Publications

  • Chen LP, Beck AE, Tsuchiya KD, Chow PM, Mirzaa GM, Wiester RT, Feldman KW
    Institutional Protocol to Manage Consanguinity Detected by Genetic Testing in Pregnancy in a Minor
    Pediatrics , 2015 PMCID: 25687148
  • Jansen LA, Mirzaa GM, Ishak GE, O'Roak BJ, Hiatt JB, Roden WH, Gunter S, Christian
    PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia
    Brain , 2015
  • Dubchak I, Balasubramanian S, Wang S, Meyden C, Sulakhe D, Poliakov A, Brnigen D
    An integrative computational approach for prioritization of genomic variants
    PLoS One , 2014 Dec. 15 : 9(12) PMCID: 25506935
  • Lee B, Diaz GA, Rhead W, Lichter-Konecki U, Feigenbaum A, Berry SA, Le Mons C, Bartley JA, Longo N, Nagamani SC, Berquist W, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Cederbaum S, Wong D, Merritt JL 2nd, Schulze A, Vockley G, Kronn D, Zori R, Summar M, Milikien DA, Marino M, Coakley DF, Mokhtarani M, Scharschmidt BF
    Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder.
    25503497 Genetics in medicine : official journal of the American College of Medical Genetics , 2014 Dec. 11
  • Lee B, Diaz GA, Rhead W, Lichter-Konecki U, Feigenbaum A, Berry SA, Le Mons C, Bartley JA, Longo N, Nagamani SC, Berquist W, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Cederbaum S, Wong D, Merritt JL 2nd, Schulze A, Vockley G, Kronn D, Zori R, Summar M, Milikien DA, Marino M, Coakley DF, Mokhtarani M, Scharschmidt BF
    Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder.
    25503497 Genetics in medicine : official journal of the American College of Medical Genetics , 2014 Dec. 11
  • Wieczorek D, Newman WG, Wieland T, Berulava T, Kaffe M, Falkenstein D, Beetz C, Graf E, Schwarzmayr T, Douzgou S, Clayton-Smith J, Daly SB, Williams SG, Bhaskar SS, Urquhart JE, Anderson B, O'Sullivan J, Boute O, Gundlach J, Czeschik JC, van Essen AJ, Hazan F, Park S, Hing A, Kuechler A, Lohmann DR, Ludwig KU, Mangold E, Steenpaß L, Zeschnigk M, Lemke JR, Lourenco CM, Hehr U, Prott EC, Waldenberger M, Böhmer AC, Horsthemke B, O'Keefe RT, Meitinger T, Burn J, Lüdecke HJ, Strom TM
    Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome.
    25434003 American journal of human genetics , 2014 Dec. 4 : 95(6)698-707 PMCID: PMC4259969
  • Wieczorek D, Newman WG, Wieland T, Berulava T, Kaffe M, Falkenstein D, Beetz C, Graf E, Schwarzmayr T, Douzgou S, Clayton-Smith J, Daly SB, Williams SG, Bhaskar SS, Urquhart JE, Anderson B, O'Sullivan J, Boute O, Gundlach J, Czeschik JC, van Essen AJ, Hazan F, Park S, Hing A, Kuechler A, Lohmann DR, Ludwig KU, Mangold E, Steenpaß L, Zeschnigk M, Lemke JR, Lourenco CM, Hehr U, Prott EC, Waldenberger M, Böhmer AC, Horsthemke B, O'Keefe RT, Meitinger T, Burn J, Lüdecke HJ, Strom TM
    Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome.
    25434003 American journal of human genetics , 2014 Dec. 4 : 95(6)698-707 PMCID: PMC4259969
  • Tokita MJ, Chow PM, Mirzaa GM, Dikow N, Maas B, Isidor B, Le Caignec C, Penney LS, Mazzotta G, Bernardini L, Filippi T, Battaglia A, Donti E, Earl D, Prontera P
    Five children with deletions of 1p34.3 encompassing AGO1 and AGO3
    Eur J Hum Genet. , 2014 Oct. PMCID: 25271087
  • AT, Clark RD, Curry CJ, Link N, Schulze KL, Boerwinkle E, Dobyns WB, Allikmets R, Gibbs RA, Chen R, Lupski JR, Wangler MF, Bellen HJ
    A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases
    Cell , 2014 Sept. 25 : 159(1)200-14 PMCID: 25259927
  • Smith JD, Hing AV, Clarke CM, Johnson NM, Perez FA, Park SS, Horst JA, Mecham B, Maves L, Nickerson DA, University of Washington Center for Mendelian Genomics, Cunningham ML
    Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis.
    25105228 American journal of human genetics , 2014 Aug. 7 : 95(2)235-40 PMCID: PMC4129399
  • Stratigopoulos G, Martin Carli JF, O'Day DR, Wang L, Leduc CA, Lanzano P, Chung WK, Rosenbaum M, Egli D, Doherty DA, Leibel RL
    Hypomorphism for RPGRIP1L, a ciliary gene vicinal to the FTO locus, causes increased adiposity in mice.
    24807221 Cell metabolism , 2014 May 6 : 19(5)767-79 PMCID: PMC4131684
  • Stratigopoulos G, Martin Carli JF, O'Day DR, Wang L, Leduc CA, Lanzano P, Chung WK, Rosenbaum M, Egli D, Doherty DA, Leibel RL
    Hypomorphism for RPGRIP1L, a ciliary gene vicinal to the FTO locus, causes increased adiposity in mice.
    24807221 Cell metabolism , 2014 May 6 : 19(5)767-79 PMCID: PMC4131684
  • Merritt JL 2nd, Vedal S, Abdenur JE, Au SM, Barshop BA, Feuchtbaum L, Harding CO, Hermerath C, Lorey F, Sesser DE, Thompson JD, Yu A
    Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening.
    24503138 Molecular genetics and metabolism , 2014 Apr, : 111(4)484-92
  • J Lawrence Merritt II, MD, 18) Merritt JL 2nd, Vedal S, Abdenur JE, Au SM, Barshop BA, Feuchtbaum L, Harding CO, Hermerath C, Lorey F, Sesser DE, Thompson JD, Yu A.
    Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening.
    Mol Genet Metab , 2014 : 111(4)484-92
  • Mirzaa GM, Kuzniecky R, Guerrini R.
    Malformations of cortical development and epilepsy
    Wyllies treatment of epilepsy: principles and practice (6th edition) , 2014
  • J Lawrence Merritt II, MD, Underhill HR, Hahn SH, Hale S, Merritt JL 2nd.
    Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L).
    Pediatr Int. , 2013 Dec. : 55(6)e156-8
  • Ruhoy IS, Merritt JL 2nd, Amlie-Lefond C
    Cystathionine Beta-synthase Deficiency Heralded by Cerebral Sinus Venous Thrombosis and Stroke.
    24138954 Pediatric neurology , 2013 Oct.
  • Swarr DT, Khalek N, Treat J, Horton MA, Mirzaa GM, Riviere JB, Dobyns WB, Zackai EH
    Expanding the differential diagnosis of fetal hydrops: an unusual prenatal
    23754335 Prenatal Diagnosis. , 2013 Oct. : 33(10)1010-2
  • Evans KN, Gruss JS, Khanna PC, Cunningham ML, Cox TC, Hing AV
    Oculoauriculofrontonasal syndrome: case series revealing new bony nasal anomalies in an old syndrome.
    23637006 American journal of medical genetics. Part A , 2013 June : 161A(6)1345-53
  • Mirzaa GM, Paciorkowski AR, Marsh ED, Berry-Kravis EM, Medne Livija, Grix A, Wirrell EC, Powell BR, Nickels KC, Burton B, Paras A, Kim K, Chung W, Dobyns WB, Das S
    CDKL5 and ARX mutations in males with early-onset epilepsy
    23583054 Pediatric Neurology , 2013 May : 48(5)367-77
  • McDonell LM, Mirzaa GM, Alcantara D, Schwartzentruber J, Carter MT, Clericuzio CL, Graham JM, Morris-Rosendahl DJ, Polster T, Acsadi G, Townshend S11, Williams S, Halbert A, Isidor B, Smyser CD, Paciorkowski AR, Willing M, Beaulieu CL, Marcadier J, Geraghty MT, FORGE Canada Consortium, Majewski J, Bulman DE, Dobyns WB, ODriscoll M, Boycott KM
    A RASopathy caused by mutations in the deubiquitinating enzyme STAMBP.
    23542699 Nature Genetics. , 2013 May : 45(5)556-62
  • Ah Mew N, Krivitzky L, McCarter R, Batshaw M, Tuchman M, Urea Cycle Disorders Consortium of the Rare Diseases Clinical Research Network
    Clinical outcomes of neonatal onset proximal versus distal urea cycle disorders do not differ.
    22901741 The Journal of pediatrics , 2013 Feb. : 162(2)324-9.e1
  • Luquetti DV, Hing AV, Rieder MJ, Nickerson DA, Turner EH, Smith J, Park S, Cunningham ML
    "Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype.
    23239648 American journal of medical genetics. Part A , 2013 Jan. : 161A(1)108-13 PMCID: PMC3535578
  • Tonduti D, Pichiecchio A, La Piana R, Livingston JH, Doherty DA, Majumdar A, Tomkins S, Mine M, Ceroni M, Ricca I, Balottin U, Orcesi S
    COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers.
    22932948 Neuropediatrics , 2012 Oct. : 43(5)283-8
  • Tully HM, Dempsey JC, Ishak GE, Adam MP, Curry CJ, Sanchez-Lara P, Hunter A, Gripp KW, Allanson J, Cunniff C, Glass I, Millen KJ, Doherty D, Dobyns WB
    Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.
    22965664 American journal of medical genetics. Part A , 2012 Oct. : 158A(10)2393-406 PMCID: PMC3448816
  • Rieder MJ, Green GE, Park SS, Stamper BD, Gordon CT, Johnson JM, Cunniff CM, Smith JD, Emery SB, Lyonnet S, Amiel J, Holder M, Heggie AA, Bamshad MJ, Nickerson DA, Cox TC, Hing AV, Horst JA, Cunningham ML
    A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.
    22560091 American journal of human genetics , 2012 May 4 : 90(5)907-14 PMCID: PMC3376493
  • Vasta V, Merritt JL 2nd, Saneto RP, Hahn SH
    Next-generation sequencing for mitochondrial diseases reveals wide diagnostic spectrum.
    22494076 Pediatrics international : official journal of the Japan Pediatric Society , 2012 Apr, 12
  • Hahn SH
    Targeted next-generation sequencing expands the spectrum of mitochondrial disorders.
    22445237 Genome medicine , 2012 Mar. 23 : 4(3)22
  • Hahn SH
    Targeted next-generation sequencing expands the spectrum of mitochondrial disorders.
    22445237 Genome medicine , 2012 Mar. 23 : 4(3)22
  • Bachmann-Gagescu R, Ishak GE, Dempsey JC, Adkins J, O'Day D, Phelps IG, Gunay-Aygun M, Kline AD, Szczaluba K, Martorell L, Alswaid A, Alrasheed S, Pai S, Izatt L, Ronan A, Parisi MA, Mefford H, Glass I, Doherty D
    Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.
    22241855 Journal of medical genetics , 2012 Feb. : 49(2)126-37
  • Mefford HC, Rosenfeld JA, Shur N, Slavotinek AM, Cox VA, Hennekam RC, Firth HV, Willatt L, Wheeler P, Morrow EM, Cook J, Sullivan R, Oh A, McDonald MT, Zonana J, Keller K, Hannibal MC, Ball S, Kussmann J, Gorski J, Zelewski S, Banks V, Smith W, Smith R, Paull L, Rosenbaum KN, Amor DJ, Silva J, Lamb A, Eichler EE
    Further clinical and molecular delineation of the 15q24 microdeletion syndrome.
    22180641 Journal of medical genetics , 2012 Feb. : 49(2)110-8 PMCID: PMC3261729
  • Lee JE, Silhavy JL, Zaki MS, Schroth J, Bielas SL, Marsh SE, Olvera J, Brancati F, Iannicelli M, Ikegami K, Schlossman AM, Merriman B, Attié-Bitach T, Logan CV, Glass IA, Cluckey A, Louie CM, Lee JH, Raynes HR, Rapin I, Castroviejo IP, Setou M, Barbot C, Boltshauser E, Nelson SF, Hildebrandt F, Johnson CA, Doherty DA, Valente EM, Gleeson JG
    CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
    22246503 Nature genetics , 2012 Jan. 15 : 44(2)193-9 PMCID: PMC3267856
  • Hahn SH, Kerfoot S, Vasta V
    Assay to measure oxidized and reduced forms of CoQ by LC-MS/MS.
    22215547 Methods in molecular biology (Clifton, N.J.) , 2012 : 837169-79
  • Hahn SH, Kerfoot S, Vasta V
    Assay to measure oxidized and reduced forms of CoQ by LC-MS/MS.
    22215547 Methods in molecular biology (Clifton, N.J.) , 2012 : 837169-79
  • Ishak GE, Dempsey, JC, Shaw DW, Tully H, Adam MP, Sanchez-Lara PA, Glass IA, Rue TC, Millen KJ, Dobyns WB, Doherty D
    Rhombencephalosynapsis: an under-recognized hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus, and a broad spectrum of severity
    Brain , 2012 : in press
  • Juric-Sekhar G, Adkins J, Doherty D, Hevner RF
    Joubert Syndrome: Brain and Spinal Cord Malformations in Genotyped Cases and Implications for Neurodevelopmental Functions of Primary Cilia
    Acta Neuropathologica , 2012 : in press
  • Juric-Sekhar G, Adkins J, Doherty D,* Hevner RF.*
    Joubert Syndrome: Brain and Spinal Cord Malformations in Genotyped Cases and Implications for Neurodevelopmental Functions of Primary Cilia.
    Acta Neuropathologica , 2012 : in press
  • Bachmann-Gagescu R, Ishak GE, Dempsey J, Adkins J, ODay D, Phelps IG, Gunay-Aygun M, Kline AD, Szczaluba K, Martorell L, Alswaid A, Alrasheed S, Pai S, Izatt L, Ronan A, Parisi MA, Mefford H, Glass I, Doherty D
    Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures
    Journal of Medical Genetics , 2012 : 49(2)126-37 PMCID: 22241855
  • Nelsen LM, Shields KE, Cunningham ML, Stoler JM, Bamshad MJ, Eng PM, Smugar SS, Gould AL, Philip G
    Congenital malformations among infants born to women receiving montelukast, inhaled corticosteroids, and other asthma medications.
    22000568 The Journal of allergy and clinical immunology , 2012 Jan. : 251-4.e1-6
  • Hing AV, Mefford HC, Cunningham ML
    New developments in genetic diagnosis: implications for the craniofacial surgeon.
    22337411 The Journal of craniofacial surgery , 2012 Jan. : 23(1)212-6
  • Sun A, Lam C, Wong DA
    Expanded newborn screening for inborn errors of metabolism: overview and outcomes.
    22789580 Advances in pediatrics , 2012 : 59(1)209-45
  • Muhle H, Mefford HC, Obermeier T, von Spiczak S, Eichler EE, Stephani U, Sander T, Helbig I
    Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome.
    22050399 Epilepsia , 2011 Dec. : 52(12)e194-8 PMCID: PMC3270691
  • Mefford HC, Yendle SC, Hsu C, Cook J, Geraghty E, McMahon JM, Eeg-Olofsson O, Sadleir LG, Gill D, Ben-Zeev B, Lerman-Sagie T, Mackay M, Freeman JL, Andermann E, Pelakanos JT, Andrews I, Wallace G, Eichler EE, Berkovic SF, Scheffer IE
    Rare copy number variants are an important cause of epileptic encephalopathies.
    22190369 Annals of neurology , 2011 Dec. : 70(6)974-85 PMCID: PMC3245646
  • Moralejo DH, Fuller JM, Rutledge EA, Van Yserloo B, Ettinger RA, Jensen R, Osborne W, Kwitek A, Lernmark A
    BB rat Gimap gene expression in sorted lymphoid T and B cells.
    21925515 Life sciences , 2011 Nov. 7 : 89(19-20)748-54 PMCID: PMC3264544
  • Merritt JL 2nd, Askenazi D, Hahn SH
    Newborn screening and renal disease: where we have been; where we are now; where we are going.
    21947256 Pediatric nephrology (Berlin, Germany) , 2011 Sept. 27
  • Merritt JL 2nd, Askenazi D, Hahn SH
    Newborn screening and renal disease: where we have been; where we are now; where we are going.
    21947256 Pediatric nephrology (Berlin, Germany) , 2011 Sept. 27
  • Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, Shendure J
    Exome sequencing as a tool for Mendelian disease gene discovery.
    21946919 Nature reviews. Genetics , 2011 Sept. 27 : 745-55
  • Tennessen JA, O'Connor TD, Bamshad MJ, Akey JM
    The promise and limitations of population exomics for human evolution studies.
    21920050 Genome biology , 2011 Sept. 14 : 127
  • Vining NC, Done S, Glass IA, Parnell SE, Sternen DL, Leppig KA, Mosca VS, Goldberg MJ
    EXT2-positive multiple hereditary osteochondromas with some features suggestive of metachondromatosis.
    21892728 Skeletal radiology , 2011 Sept. 4
  • Weymouth KS, Blanton SH, Bamshad MJ, Beck AE, Alvarez C, Richards S, Gurnett CA, Dobbs MB, Barnes D, Mitchell LE, Hecht JT
    Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot.
    21834041 American journal of medical genetics. Part A , 2011 Sept. : 2170-9 PMCID: PMC3158831
  • Chen X, Thorburn DR, Wong LJ, Vladutiu GD, Haas RH, Le T, Hoppel C, Sedensky M, Morgan P, Hahn SH
    Quality improvement of mitochondrial respiratory chain complex enzyme assays using Caenorhabditis elegans.
    21633293 Genetics in medicine : official journal of the American College of Medical Genetics , 2011 Sept. : 13(9)794-9
  • Chen X, Thorburn DR, Wong LJ, Vladutiu GD, Haas RH, Le T, Hoppel C, Sedensky M, Morgan P, Hahn SH
    Quality improvement of mitochondrial respiratory chain complex enzyme assays using Caenorhabditis elegans.
    21633293 Genetics in medicine : official journal of the American College of Medical Genetics , 2011 Sept. : 13(9)794-9
  • Weymouth KS, Blanton SH, Bamshad MJ, Beck AE, Alvarez C, Richards S, Gurnett CA, Dobbs MB, Barnes D, Mitchell LE, Hecht JT
    Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot.
    21834041 American journal of medical genetics. Part A , 2011 Sept. : 2170-9 PMCID: PMC3158831
  • Bennett J, Hahn SH
    Clinical molecular diagnosis of Wilson disease.
    21901653 Seminars in liver disease , 2011 Aug. : 31(3)233-8
  • Wang GL, Wang J, Douglas G, Browning M, Hahn S, Ganesh J, Cox S, Aleck K, Schmitt ES, Zhang W, Wong LJ
    Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis.
    21605995 Molecular genetics and metabolism , 2011 Aug. : 103(4)349-57
  • Bennett J, Hahn SH
    Clinical molecular diagnosis of Wilson disease.
    21901653 Seminars in liver disease , 2011 Aug. : 31(3)233-8
  • Wang GL, Wang J, Douglas G, Browning M, Hahn S, Ganesh J, Cox S, Aleck K, Schmitt ES, Zhang W, Wong LJ
    Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis.
    21605995 Molecular genetics and metabolism , 2011 Aug. : 103(4)349-57
  • Lichter-Konecki U, Diaz GA, Merritt JL 2nd, Feigenbaum A, Jomphe C, Marier JF, Beliveau M, Mauney J, Dickinson K, Martinez A, Mokhtarani M, Scharschmidt B, Rhead W
    Ammonia control in children with urea cycle disorders (UCDs); phase 2 comparison of sodium phenylbutyrate and glycerol phenylbutyrate.
    21612962 Molecular genetics and metabolism , 2011 Aug. : 103(4)323-9
  • Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, Gildersleeve HI, Bigham AW, Tabor HK, Mefford HC, Cook J, Yoshiura K, Matsumoto T, Matsumoto N, Miyake N, Tonoki H, Naritomi K, Kaname T, Nagai T, Ohashi H, Kurosawa K, Hou JW, Ohta T, Liang D, Sudo A, Morris CA, Banka S, Black GC, Clayton-Smith J, Nickerson DA, Zackai EH, Shaikh TH, Donnai D, Niikawa N, Shendure J, Bamshad MJ
    Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.
    21671394 American journal of medical genetics. Part A , 2011 July : 155A(7)1511-6 PMCID: PMC3121928
  • Yang YY, Vasta V, Hahn S, Gangoiti JA, Opheim E, Sedensky MM, Morgan PG
    The role of DMQ(9) in the long-lived mutant clk-1.
    21745495 Mechanisms of ageing and development , 2011 June : 132(6-7)331-9 PMCID: PMC3156029
  • Yang YY, Vasta V, Hahn S, Gangoiti JA, Opheim E, Sedensky MM, Morgan PG
    The role of DMQ(9) in the long-lived mutant clk-1.
    21745495 Mechanisms of ageing and development , 2011 June : 132(6-7)331-9 PMCID: PMC3156029
  • Sun A, Hopwood JJ, Thompson J, Cederbaum SD
    Combined Hurler and Sanfilippo syndrome in a sibling pair.
    21393040 Molecular genetics and metabolism , 2011 June : 103(2)135-7
  • Sang L, Miller JJ, Corbit KC, Giles RH, Brauer MJ, Otto EA, Baye LM, Wen X, Scales SJ, Kwong M, Huntzicker EG, Sfakianos MK, Sandoval W, Bazan JF, Kulkarni P, Garcia-Gonzalo FR, Seol AD, O'Toole JF, Held S, Reutter HM, Lane WS, Rafiq MA, Noor A, Ansar M, Devi AR, Sheffield VC, Slusarski DC, Vincent JB, Doherty DA, Hildebrandt F, Reiter JF, Jackson PK
    Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.
    21565611 Cell , 2011 May 13 : 513-28
  • Esparza EM, Golden AS, Hahn SH, Patterson K, Brandling-Bennett HA
    What syndrome is this? Infantile periorificial and intertriginous dermatitis preceding sepsis-like respiratory failure.
    21615476 Pediatric dermatology , 2011 May : 28(3)333-4
  • Juric-Sekhar G, Kapur RP, Glass IA, Murray ML, Parnell SE, Hevner RF
    Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III.
    20857301 Acta neuropathologica , 2011 Apr, : 121(4)545-54 PMCID: PMC3059390
  • Sisodiya SM, Mefford HC
    Genetic contribution to common epilepsies.
    21252662 Current opinion in neurology , 2011 Apr, : 24(2)140-5
  • Moralejo D, Yanay O, Kernan K, Bailey A, Lernmark A, Osborne W
    Sustained glucagon-like peptide 1 expression from encapsulated transduced cells to treat obese diabetic rats.
    21216666 Journal of bioscience and bioengineering , 2011 Apr, : 111(4)383-7 PMCID: PMC3074004
  • Rödelsperger C, Krawitz P, Bauer S, Hecht J, Bigham AW, Bamshad M, de Condor BJ, Schweiger MR, Robinson PN
    Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders.
    21278187 Bioinformatics (Oxford, England) , 2011 Mar. 15 : 829-36 PMCID: PMC3051326
  • Mulley JC, Mefford HC
    Epilepsy and the new cytogenetics.
    21269290 Epilepsia , 2011 Mar. : 52(3)423-32 PMCID: PMC3079368
  • Vasta V, Sedensky M, Morgan P, Hahn SH
    Altered redox status of coenzyme Q9 reflects mitochondrial electron transport chain deficiencies in Caenorhabditis elegans.
    20849980 Mitochondrion , 2011 Jan. : 11(1)136-8
  • Vasta V, Sedensky M, Morgan P, Hahn SH
    Altered redox status of coenzyme Q9 reflects mitochondrial electron transport chain deficiencies in Caenorhabditis elegans.
    20849980 Mitochondrion , 2011 Jan. : 11(1)136-8
  • Cooper GM, Mefford HC
    Detection of copy number variation using SNP genotyping.
    21822880 Methods in molecular biology (Clifton, N.J.) , 2011 : 767243-52
  • Miller DG, Lovell EO
    Antibiotic-induced serotonin syndrome.
    18455905 The Journal of emergency medicine , 2011 Jan. : 25-7
  • 5. Huang L, Szymanska K, Jensen VL, Janecke AR, Innes AM, Davis EE, Frosk P, Li C, Willer JR, Chodirker BN, Greenberg CR, McLeod DR, Bernier FP, Chudley AE, Mller T, Shboul M, Logan CV, Loucks CM, Beaulieu CL, Bowie RV, Bell SM, Adkins J, Zuniga FI, Ross KD, Wang J, Ban MR, Becker C, Nrnberg P, Douglas S, Craft CM, Akimenko MA, Hegele RA, Ober C, Utermann G, Bolz HJ, Bulman DE, Katsanis N, Blacque OE, Doherty D, Parboosingh JS, Leroux MR, Johnson CA, Boycott KM
    TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone
    Am J Hum Genet , 2011 : 89(6)713-30 PMCID: 22152675
  • Livingston J, Doherty D, Orcesi S, Tonduti D, Piechiecchio A, La Piana R, Tournier-Lasserve E, Majumdar A, Tomkins S, Rice G, Kneen R, van der Knaap M, Crow Y
    COL4A1 Mutations Associated with a Characteristic Pattern of Intracranial Calcification
    Neuropediatrics , 2011 : Epub ahead of print PMCID: 22134833
  • 7. Bachmann-Gagescu R, Phelps IG, Stearns G, Link BA, Brockerhoff SE, Moens CB, Doherty D
    The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking
    Hum Mol Genet , 2011 : 20(20)4041-55 PMCID: 2181694
  • Bigham AW, Buckingham KJ, Husain S, Emond MJ, Bofferding KM, Gildersleeve H, Rutherford A, Astakhova NM, Perelygin AA, Busch MP, Murray KO, Sejvar JJ, Green S, Kriesel J, Brinton MA, Bamshad M
    Host genetic risk factors for West Nile virus infection and disease progression.
    21935451 PloS one , 2011 : e24745 PMCID: PMC3174177
  • Michael J. Bamshad, MD, Carey J and Bamshad M
    Clinical Genetics and Dysmorphology in Rudolph's Textbook of Pediatrics, 22st edition, McGraw Hill
  • Stephanie E. Wallace, MD
    Clinical Features in a 4 year old male with trisomy 8p23.3p11.1
  • Cunningham ML, Horst JA, Rieder MJ, Hing AV, Stanaway IB, Park SS, Samudrala R, Speltz ML
    IGF1R variants associated with isolated single suture craniosynostosis.
    21204214 American journal of medical genetics. Part A , 2011 Jan. : 155A(1)91-7 PMCID: PMC3059230
  • Snider L, Geng LN, Lemmers RJ, Kyba M, Ware CB, Nelson AM, Tawil R, Filippova GN, van der Maarel SM, Tapscott SJ, Miller DG
    Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene.
    21060811 PLoS genetics , 2010 Oct. 28 : e1001181
  • Duffey TA, Khaliq T, Scott CR, Turecek F, Gelb MH
    Design and synthesis of substrates for newborn screening of Maroteaux-Lamy and Morquio A syndromes.
    20833037 Bioorganic & medicinal chemistry letters , 2010 Oct. 15 : 5994-6
  • Ng SB, Nickerson DA, Bamshad MJ, Shendure J
    Massively parallel sequencing and rare disease.
    20846941 Human molecular genetics , 2010 Oct. 15 : R119-24 PMCID: PMC2953741
  • Mefford HC, Mulley JC
    Genetically complex epilepsies, copy number variants and syndrome constellations.
    20923578 Genome medicine , 2010 Oct. 5 : 2(10)71 PMCID: PMC2988446
  • Yu TW, Mochida GH, Tischfield DJ, Sgaier SK, Flores-Sarnat L, Sergi CM, Topçu M, McDonald MT, Barry BJ, Felie JM, Sunu C, Dobyns WB, Folkerth RD, Barkovich AJ, Walsh CA
    Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.
    20890278 Nature genetics , 2010 Oct. 3
  • Nicholas AK, Khurshid M, Désir J, Carvalho OP, Cox JJ, Thornton G, Kausar R, Ansar M, Ahmad W, Verloes A, Passemard S, Misson JP, Lindsay S, Gergely F, Dobyns WB, Roberts E, Abramowicz M, Woods CG
    WDR62 is associated with the spindle pole and is mutated in human microcephaly.
    20890279 Nature genetics , 2010 Oct. 3
  • Bachmann-Gagescu R, Mefford HC, Cowan C, Glew GM, Hing AV, Wallace S, Bader PI, Hamati A, Reitnauer PJ, Smith R, Stockton DW, Muhle H, Helbig I, Eichler EE, Ballif BC, Rosenfeld J, Tsuchiya KD
    Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.
    20808231 Genetics in medicine : official journal of the American College of Medical Genetics , 2010 Oct. : 12(10)641-7
  • Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW, Miller DG, Tapscott SJ, Tawil R, Frants RR, van der Maarel SM
    A unifying genetic model for facioscapulohumeral muscular dystrophy.
    20724583 Science (New York, N.Y.) , 2010 Sept. 24 : 1650-3
  • Juric-Sekhar G, Kapur RP, Glass IA, Murray ML, Parnell SE, Hevner RF
    Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III.
    20857301 Acta neuropathologica , 2010 Sept. 21
  • O'Driscoll MC, Daly SB, Urquhart JE, Black GC, Pilz DT, Brockmann K, McEntagart M, Abdel-Salam G, Zaki M, Wolf NI, Ladda RL, Sell S, D'Arrigo S, Squier W, Dobyns WB, Livingston JH, Crow YJ
    Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.
    20727516 American journal of human genetics , 2010 Sept. 10 : 354-64
  • Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J
    Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
    20711175 Nature genetics , 2010 Sept. : 790-3 PMCID: PMC2930028
  • Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J
    Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
    20711175 Nature genetics , 2010 Sept. : 42(9)790-3 PMCID: PMC2930028
  • Mefford HC, Shafer N, Antonacci F, Tsai JM, Park SS, Hing AV, Rieder MJ, Smyth MD, Speltz ML, Eichler EE, Cunningham ML
    Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis.
    20683987 American journal of medical genetics. Part A , 2010 Sept. : 152A(9)2203-10 PMCID: PMC3104131
  • Petek LM, Fleckman P, Miller DG
    Efficient KRT14 targeting and functional characterization of transplanted human keratinocytes for the treatment of epidermolysis bullosa simplex.
    20571545 Molecular therapy : the journal of the American Society of Gene Therapy , 2010 Sept. : 1624-32
  • Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J
    Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
    20711175 Nature genetics , 2010 Sept. : 790-3 PMCID: PMC2930028
  • O'Driscoll MC, Black GC, Clayton-Smith J, Sherr EH, Dobyns WB
    Identification of genomic loci contributing to agenesis of the corpus callosum.
    20683985 American journal of medical genetics. Part A , 2010 Sept. : 2145-59
  • Graham JM Jr, Spencer AH, Grinberg I, Niesen CE, Platt LD, Maya M, Namavar Y, Baas F, Dobyns WB
    Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible?
    20803644 American journal of medical genetics. Part A , 2010 Sept. : 2268-76
  • Mefford HC, Shafer N, Antonacci F, Tsai JM, Park SS, Hing AV, Rieder MJ, Smyth MD, Speltz ML, Eichler EE, Cunningham ML
    Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis.
    20683987 American journal of medical genetics. Part A , 2010 Sept. : 2203-10
  • Bachmann-Gagescu R, Mefford HC, Cowan C, Glew GM, Hing AV, Wallace S, Bader PI, Hamati A, Reitnauer PJ, Smith R, Stockton DW, Muhle H, Helbig I, Eichler EE, Ballif BC, Rosenfeld J, Tsuchiya KD
    Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.
    20808231 Genetics in medicine : official journal of the American College of Medical Genetics , 2010 Aug. 30
  • Bachmann-Gagescu R, Mefford HC, Cowan C, Glew GM, Hing AV, Wallace S, Bader PI, Hamati A, Reitnauer PJ, Smith R, Stockton DW, Muhle H, Helbig I, Eichler EE, Ballif BC, Rosenfeld J, Tsuchiya KD
    Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.
    20808231 Genetics in medicine : official journal of the American College of Medical Genetics , 2010 Aug. 30
  • Choiniere JR, Scott CR, Gelb MH, Turecek F
    Direct assay of delta-aminolevulinic acid dehydratase in heme biosynthesis for the detection of porphyrias by tandem mass spectrometry.
    20583792 Analytical chemistry , 2010 Aug. 1 : 6730-6
  • Rankin J, Brown R, Dobyns WB, Harington J, Patel J, Quinn M, Brown G
    Pontocerebellar hypoplasia type 6: A British case with PEHO-like features.
    20635367 American journal of medical genetics. Part A , 2010 Aug. : 2079-84
  • Cantagrel V, Lefeber DJ, Ng BG, Guan Z, Silhavy JL, Bielas SL, Lehle L, Hombauer H, Adamowicz M, Swiezewska E, De Brouwer AP, Blümel P, Sykut-Cegielska J, Houliston S, Swistun D, Ali BR, Dobyns WB, Babovic-Vuksanovic D, van Bokhoven H, Wevers RA, Raetz CR, Freeze HH, Morava E, Al-Gazali L, Gleeson JG
    SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
    20637498 Cell , 2010 July 23 : 203-17
  • Kumar RA, Pilz DT, Babatz TD, Cushion TD, Harvey K, Topf M, Yates L, Robb S, Uyanik G, Mancini GM, Rees MI, Harvey RJ, Dobyns WB
    TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.
    20466733 Human molecular genetics , 2010 July 15 : 2817-27
  • Horslen S, Hahn SH
    Genotype-phenotype correlation in Wilson disease.
    20421802 Journal of clinical gastroenterology , 2010 July : 44(6)387-8
  • Horslen S, Hahn SH
    Genotype-phenotype correlation in Wilson disease.
    20421802 Journal of clinical gastroenterology , 2010 July : 44(6)387-8
  • Stadler B, Ivanovska I, Mehta K, Song S, Nelson A, Tan Y, Mathieu J, Darby C, Blau CA, Ware C, Peters G, Miller DG, Shen L, Cleary MA, Ruohola-Baker H
    Characterization of microRNAs involved in embryonic stem cell states.
    20128659 Stem cells and development , 2010 July : 935-50
  • Illeperuma RJ, Markalanda D, Mountain JL, Ratnasooriya WD, Fernandopulle ND, Bamshad MJ
    Haplotype data for 12 Y-chromosome STR loci of Sri Lankans.
    20457052 Forensic science international. Genetics , 2010 July : e119-20
  • O'Driscoll MC, Jenny K, Saitta S, Dobyns WB, Gripp KW
    Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?
    20583147 American journal of medical genetics. Part A , 2010 July : 1621-6
  • Basel-Vanagaite L, Dobyns WB
    Clinical and brain imaging heterogeneity of severe microcephaly.
    20682196 Pediatric neurology , 2010 July : 7-16
  • Carr CW, Moreno-De-Luca D, Parker C, Zimmerman HH, Ledbetter N, Martin CL, Dobyns WB, Abdul-Rahman OA
    Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency.
    20571508 European journal of human genetics : EJHG , 2010 June 23
  • Mineyko A, Doja A, Hurteau J, Dobyns WB, Das S, Boycott KM
    A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism.
    19808989 Journal of child neurology , 2010 June : 738-41
  • Verkerk AJ, Schot R, van Waterschoot L, Douben H, Poddighe PJ, Lequin MH, de Vries LS, Terhal P, Hahnemann JM, de Coo IF, de Wit MC, Wafelman LS, Garavelli L, Dobyns WB, Van der Spek PJ, de Klein A, Mancini GM
    Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus.
    20503325 American journal of medical genetics. Part A , 2010 June : 1488-97
  • Yanay O, Moralejo D, Kernan K, Brzezinski M, Fuller JM, Barton RW, Lernmark A, Osborne WR
    Prolonged survival and improved glycemia in BioBreeding diabetic rats after early sustained exposure to glucagon-like peptide 1.
    20527046 The journal of gene medicine , 2010 June : 12(6)538-44 PMCID: PMC2882674
  • Mefford HC, Muhle H, Ostertag P, von Spiczak S, Buysse K, Baker C, Franke A, Malafosse A, Genton P, Thomas P, Gurnett CA, Schreiber S, Bassuk AG, Guipponi M, Stephani U, Helbig I, Eichler EE
    Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies.
    20502679 PLoS genetics , 2010 May 20 : 6(5)e1000962 PMCID: PMC2873910
  • Royal CD, Novembre J, Fullerton SM, Goldstein DB, Long JC, Bamshad MJ, Clark AG
    Inferring genetic ancestry: opportunities, challenges, and implications.
    20466090 American journal of human genetics , 2010 May 14 : 661-73
  • Petek LM, Russell DW, Miller DG
    Frequent endonuclease cleavage at off-target locations in vivo.
    20216527 Molecular therapy : the journal of the American Society of Gene Therapy , 2010 May : 983-6
  • Leventer RJ, Jansen A, Pilz DT, Stoodley N, Marini C, Dubeau F, Malone J, Mitchell LA, Mandelstam S, Scheffer IE, Berkovic SF, Andermann F, Andermann E, Guerrini R, Dobyns WB
    Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients.
    20403963 Brain : a journal of neurology , 2010 May : 1415-27
  • Roach JC, Glusman G, Smit AF, Huff CD, Hubley R, Shannon PT, Rowen L, Pant KP, Goodman N, Bamshad M, Shendure J, Drmanac R, Jorde LB, Hood L, Galas DJ
    Analysis of genetic inheritance in a family quartet by whole-genome sequencing.
    20220176 Science (New York, N.Y.) , 2010 Apr, 30 : 636-9 PMCID: PMC3037280
  • Cooper GM, Goode DL, Ng SB, Sidow A, Bamshad MJ, Shendure J, Nickerson DA
    Single-nucleotide evolutionary constraint scores highlight disease-causing mutations.
    20354513 Nature methods , 2010 Apr, : 250-1 PMCID: PMC3145250
  • Cooper GM, Goode DL, Ng SB, Sidow A, Bamshad MJ, Shendure J, Nickerson DA
    Single-nucleotide evolutionary constraint scores highlight disease-causing mutations.
    20354513 Nature methods , 2010 Apr, : 250-1
  • Pavone P, Ruggieri M, Lombardo I, Sudi J, Biancheri R, Castellano-Chiodo D, Rossi A, Incorpora G, Nowak NJ, Christian SL, Pavone L, Dobyns WB
    Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q.
    19838731 European journal of pediatrics , 2010 Apr, : 475-81
  • Moralejo DH, Hansen CT, Treuting P, Hessner MJ, Fuller JM, Van Yserloo B, Jensen R, Osborne W, Kwitek AE, Lernmark A
    Differential effects of leptin receptor mutation on male and female BBDR Gimap5-/Gimap5- spontaneously diabetic rats.
    19996157 Physiological genomics , 2010 Mar. 3 : 41(1)9-20 PMCID: PMC2841494
  • Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL, Dickel DE, Levy DL, Ballif BC, Platky K, Farber DM, Gowans GC, Wetherbee JJ, Asamoah A, Weaver DD, Mark PR, Dickerson J, Garg BP, Ellingwood SA, Smith R, Banks VC, Smith W, McDonald MT, Hoo JJ, French BN, Hudson C, Johnson JP, Ozmore JR, Moeschler JB, Surti U, Escobar LF, El-Khechen D, Gorski JL, Kussmann J, Salbert B, Lacassie Y, Biser A, McDonald-McGinn DM, Zackai EH, Deardorff MA, Shaikh TH, Haan E, Friend KL, Fichera M, Romano C, Gécz J, DeLisi LE, Sebat J, King MC, Shaffer LG, Eichler EE
    A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.
    20154674 Nature genetics , 2010 Mar. : 42(3)203-9 PMCID: PMC2847896
  • Kumar RA, Sudi J, Babatz TD, Brune CW, Oswald D, Yen M, Nowak NJ, Cook EH, Christian SL, Dobyns WB
    A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism.
    19546099 Journal of medical genetics , 2010 Feb. : 81-90
  • Dobyns WB
    The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia.
    20331703 Epilepsia , 2010 Feb. : 5-9
  • de Kovel CG, Trucks H, Helbig I, Mefford HC, Baker C, Leu C, Kluck C, Muhle H, von Spiczak S, Ostertag P, Obermeier T, Kleefuss-Lie AA, Hallmann K, Steffens M, Gaus V, Klein KM, Hamer HM, Rosenow F, Brilstra EH, Trenité DK, Swinkels ME, Weber YG, Unterberger I, Zimprich F, Urak L, Feucht M, Fuchs K, Møller RS, Hjalgrim H, De Jonghe P, Suls A, Rückert IM, Wichmann HE, Franke A, Schreiber S, Nürnberg P, Elger CE, Lerche H, Stephani U, Koeleman BP, Lindhout D, Eichler EE, Sander T
    Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies.
    19843651 Brain : a journal of neurology , 2010 Jan. : 133(Pt 1)23-32 PMCID: PMC2801323
  • Seminara J, Tuchman M, Krivitzky L, Krischer J, Lee HS, Lemons C, Baumgartner M, Cederbaum S, Diaz GA, Feigenbaum A, Gallagher RC, Harding CO, Kerr DS, Lanpher B, Lee B, Lichter-Konecki U, McCandless SE, Merritt JL, Oster-Granite ML, Seashore MR, Stricker T, Summar M, Waisbren S, Yudkoff M, Batshaw ML
    Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium.
    20188616 Molecular genetics and metabolism , 2010 : S97-105
  • Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ
    Exome sequencing identifies the cause of a mendelian disorder.
    19915526 Nature genetics , 2010 Jan. : 30-5 PMCID: PMC2847889
  • Xing J, Watkins WS, Hu Y, Huff CD, Sabo A, Muzny DM, Bamshad MJ, Gibbs RA, Jorde LB, Yu F
    Genetic diversity in India and the inference of Eurasian population expansion.
    21106085 Genome biology , 2010 : R113 PMCID: PMC3156952
  • Michael J. Bamshad, MD, Jorde LB, Carey JC, Bamshad M
    Medical Genetics, 4th edition
  • Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ
    Exome sequencing identifies the cause of a mendelian disorder.
    19915526 Nature genetics , 2010 Jan. : 30-5
  • Earl D, Wallace S, Tsuchiya K
    Recurrence of a 1 Mb 9q34.3 subtelomeric deletion in siblings detected by oligonucleotide array
  • Wallace SE, Earl DE, White K, Goldberg, MJ
    Macrocephaly, conductive hearing loss, atrial septal defect, and congenital radial head dislocation in a father and two sons
  • D'haene B, Nevado J, Pugeat M, Pierquin G, Lowry RB, Reardon W, Delicado A, Garcia-Minaur S, Palomares M, Courtens W, Stefanova M, Wallace S, Watkins W, Shelling AN, Wiezorek D, Veitia RA, De Paepe A, Lapunzina P, De Baere E
    FOXL2 copy number changes in the molecular pathogenesis of BPES: Unique cohort of 17 deletions
    Human Mutation , 2010 : 31((5))E1332-E1347
  • Mefford HC
    Genotype to phenotype-discovery and characterization of novel genomic disorders in a "genotype-first" era.
    20010361 Genetics in medicine : official journal of the American College of Medical Genetics , 2009 Dec. : 11(12)836-42
  • Mir A, Kaufman L, Noor A, Motazacker MM, Jamil T, Azam M, Kahrizi K, Rafiq MA, Weksberg R, Nasr T, Naeem F, Tzschach A, Kuss AW, Ishak GE, Doherty D, Ropers HH, Barkovich AJ, Najmabadi H, Ayub M, Vincent JB
    Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation.
    20004765 American journal of human genetics , 2009 Dec. : 909-15
  • Barkovich AJ, Millen KJ, Dobyns WB
    A developmental and genetic classification for midbrain-hindbrain malformations.
    19933510 Brain : a journal of neurology , 2009 Dec. : 3199-230
  • Babatz TD, Kumar RA, Sudi J, Dobyns WB, Christian SL
    Copy number and sequence variants implicate APBA2 as an autism candidate gene.
    20029827 Autism research : official journal of the International Society for Autism Research , 2009 Dec. : 359-64
  • Sadilkova K, Gospe SM Jr, Hahn SH
    Simultaneous determination of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate and pipecolic acid by LC-MS/MS for pyridoxine-dependent seizures and folinic acid-responsive seizures.
    19631689 Journal of neuroscience methods , 2009 Oct. 30 : 184(1)136-41
  • Sadilkova K, Gospe SM Jr, Hahn SH
    Simultaneous determination of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate and pipecolic acid by LC-MS/MS for pyridoxine-dependent seizures and folinic acid-responsive seizures.
    19631689 Journal of neuroscience methods , 2009 Oct. 30 : 184(1)136-41
  • Vasta V, Ng SB, Turner EH, Shendure J, Hahn SH
    Next generation sequence analysis for mitochondrial disorders.
    19852779 Genome medicine , 2009 Oct. 23 : 1(10)100 PMCID: PMC2784303
  • Vasta V, Ng SB, Turner EH, Shendure J, Hahn SH
    Next generation sequence analysis for mitochondrial disorders.
    19852779 Genome medicine , 2009 Oct. 23 : 1(10)100 PMCID: PMC2784303
  • Weiss AH, Doherty D, Parisi M, Shaw D, Glass I, Phillips JO
    Eye movement abnormalities in Joubert syndrome.
    19443711 Investigative ophthalmology & visual science , 2009 Oct. : 50(10)4669-77
  • Dibbens LM, Mullen S, Helbig I, Mefford HC, Bayly MA, Bellows S, Leu C, Trucks H, Obermeier T, Wittig M, Franke A, Caglayan H, Yapici Z, EPICURE Consortium, Sander T, Eichler EE, Scheffer IE, Mulley JC, Berkovic SF
    Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance.
    19592580 Human molecular genetics , 2009 Oct. 1 : 18(19)3626-31
  • Weiss AH, Doherty D, Parisi M, Shaw D, Glass I, Phillips JO
    Eye movement abnormalities in Joubert syndrome.
    19443711 Investigative ophthalmology & visual science , 2009 Oct. : 4669-77
  • Coene KL, Roepman R, Doherty D, Afroze B, Kroes HY, Letteboer SJ, Ngu LH, Budny B, van Wijk E, Gorden NT, Azhimi M, Thauvin-Robinet C, Veltman JA, Boink M, Kleefstra T, Cremers FP, van Bokhoven H, de Brouwer AP
    OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
    19800048 American journal of human genetics , 2009 Oct. : 465-81
  • He W, Kulkarni H, Castiblanco J, Shimizu C, Aluyen U, Maldonado R, Carrillo A, Griffin M, Lipsitt A, Beachy L, Shostakovich-Koretskaya L, Mangano A, Sen L, Nibbs RJ, Tiemessen CT, Bolivar H, Bamshad MJ, Clark RA, Burns JC, Dolan MJ, Ahuja SK
    Reply to: "Experimental aspects of copy number variant assays at CCL3L1".
    19812563 Nature medicine , 2009 Oct. : 1117-20
  • Heike CL, Cunningham ML, Hing AV, Stuhaug E, Starr JR
    Picture perfect? Reliability of craniofacial anthropometry using three-dimensional digital stereophotogrammetry.
    19935311 Plastic and reconstructive surgery , 2009 Oct. : 1261-72
  • Gunay-Aygun M, Parisi MA, Doherty D, Tuchman M, Tsilou E, Kleiner DE, Huizing M, Turkbey B, Choyke P, Guay-Woodford L, Heller T, Szymanska K, Johnson CA, Glass I, Gahl WA
    MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome.
    19540516 The Journal of pediatrics , 2009 Sept. : 155(3)386-92.e1 PMCID: PMC2925444
  • Mefford HC, Cooper GM, Zerr T, Smith JD, Baker C, Shafer N, Thorland EC, Skinner C, Schwartz CE, Nickerson DA, Eichler EE
    A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease.
    19506092 Genome research , 2009 Sept. : 19(9)1579-85 PMCID: PMC2752120
  • Gunay-Aygun M, Parisi MA, Doherty D, Tuchman M, Tsilou E, Kleiner DE, Huizing M, Turkbey B, Choyke P, Guay-Woodford L, Heller T, Szymanska K, Johnson CA, Glass I, Gahl WA
    MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome.
    19540516 The Journal of pediatrics , 2009 Sept. : 386-92.e1
  • Doherty D
    Joubert syndrome: insights into brain development, cilium biology, and complex disease.
    19778711 Seminars in pediatric neurology , 2009 Sept. : 143-54
  • Bachmann-Gagescu R, Merritt JL 2nd, Hahn SH
    A cognitively normal PDH-deficient 18-year-old man carrying the R263G mutation in the PDHA1 gene.
    19639391 Journal of inherited metabolic disease , 2009 July 29
  • Bachmann-Gagescu R, Merritt JL 2nd, Hahn SH
    A cognitively normal PDH-deficient 18-year-old man carrying the R263G mutation in the PDHA1 gene.
    19639391 Journal of inherited metabolic disease , 2009 July 29
  • Bachmann-Gagescu R, Merritt JL 2nd, Hahn SH
    A cognitively normal PDH-deficient 18-year-old man carrying the R263G mutation in the PDHA1 gene.
    19639391 Journal of inherited metabolic disease , 2009 July 29
  • Snider L, Asawachaicharn A, Tyler AE, Geng LN, Petek LM, Maves L, Miller DG, Lemmers RJ, Winokur ST, Tawil R, van der Maarel SM, Filippova GN, Tapscott SJ
    RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy.
    19359275 Human molecular genetics , 2009 July 1 : 2414-30
  • Haverfield EV, Whited AJ, Petras KS, Dobyns WB, Das S
    Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia.
    19050731 European journal of human genetics : EJHG , 2009 July : 911-8
  • Mefford HC, Eichler EE
    Duplication hotspots, rare genomic disorders, and common disease.
    19477115 Current opinion in genetics & development , 2009 June : 196-204
  • Bennett CL, Chen Y, Hahn S, Glass IA, Gospe SM Jr
    Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.
    19128417 Epilepsia , 2009 May : 50(5)1167-75
  • Bennett CL, Chen Y, Hahn S, Glass IA, Gospe SM Jr
    Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.
    19128417 Epilepsia , 2009 May : 1167-75
  • Bennett CL, Chen Y, Hahn S, Glass IA, Gospe SM Jr
    Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.
    19128417 Epilepsia , 2009 May : 50(5)1167-75
  • Bennett CL, Chen Y, Hahn S, Glass IA, Gospe SM Jr
    Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.
    19128417 Epilepsia , 2009 May : 50(5)1167-75
  • Gripp KW, Hopkins E, Vinkler C, Lev D, Malinger G, Lerman-Sagie T, Dobyns WB
    Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes.
    19353582 American journal of medical genetics. Part A , 2009 May : 868-76
  • Solomon BD, Lacbawan F, Jain M, Domené S, Roessler E, Moore C, Dobyns WB, Muenke M
    A novel SIX3 mutation segregates with holoprosencephaly in a large family.
    19353631 American journal of medical genetics. Part A , 2009 May : 919-25
  • Hing AV, Click ES, Holder U, Seto ML, Vessey K, Gruss J, Hopper R, Cunningham ML
    Bilateral lambdoid and sagittal synostosis (BLSS): a unique craniosynostosis syndrome or predictable craniofacial phenotype?
    19396832 American journal of medical genetics. Part A , 2009 May : 1024-32
  • Landsverk ML, Ruzzo EK, Mefford HC, Buysse K, Buchan JG, Eichler EE, Petty EM, Peterson EA, Knutzen DM, Barnett K, Farlow MR, Caress J, Parry GJ, Quan D, Gardner KL, Hong M, Simmons Z, Bird TD, Chance PF, Hannibal MC
    Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.
    19139049 Human molecular genetics , 2009 Apr, 1 : 1200-8
  • Toydemir RM, Bamshad MJ
    Sheldon-Hall syndrome.
    19309503 Orphanet journal of rare diseases , 2009 Mar. 23 : 11
  • Lee JH, Lee HJ, Bin JH, Hahn SH, Kim SY, Kim HH, Lee WB
    A novel homozygous missense mutation in the factor VII gene of severe factor VII deficiency in a newborn baby.
    19786945 Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis , 2009 Mar. : 20(2)161-4
  • Sparkes RL, Shetty S, Chernos JE, Mefford HC, Micheil Innes A
    Interstitial deletion of 11q in a mother and fetus: implications of directly transmitted chromosomal imbalances for prenatal genetic counseling.
    19177486 Prenatal diagnosis , 2009 Mar. : 283-6
  • Merritt JL 2nd, Nguyen T, Daniels J, Matern D, Schowalter DB
    Biochemical correction of very long-chain acyl-CoA dehydrogenase deficiency following adeno-associated virus gene therapy.
    19156135 Molecular therapy : the journal of the American Society of Gene Therapy , 2009 Mar. : 17(3)425-9 PMCID: PMC2835097
  • Merritt JL 2nd, Nguyen T, Daniels J, Matern D, Schowalter DB
    Biochemical correction of very long-chain acyl-CoA dehydrogenase deficiency following adeno-associated virus gene therapy.
    19156135 Molecular therapy : the journal of the American Society of Gene Therapy , 2009 Mar. : 425-9
  • Suzuki S, Marazita ML, Cooper ME, Miwa N, Hing A, Jugessur A, Natsume N, Shimozato K, Ohbayashi N, Suzuki Y, Niimi T, Minami K, Yamamoto M, Altannamar TJ, Erkhembaatar T, Furukawa H, Daack-Hirsch S, L'heureux J, Brandon CA, Weinberg SM, Neiswanger K, Deleyiannis FW, de Salamanca JE, Vieira AR, Lidral AC, Martin JF, Murray JC
    Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip.
    19249007 American journal of human genetics , 2009 Mar. : 84(3)406-11 PMCID: PMC2667991
  • Helbig I, Mefford HC, Sharp AJ, Guipponi M, Fichera M, Franke A, Muhle H, de Kovel C, Baker C, von Spiczak S, Kron KL, Steinich I, Kleefuss-Lie AA, Leu C, Gaus V, Schmitz B, Klein KM, Reif PS, Rosenow F, Weber Y, Lerche H, Zimprich F, Urak L, Fuchs K, Feucht M, Genton P, Thomas P, Visscher F, de Haan GJ, Møller RS, Hjalgrim H, Luciano D, Wittig M, Nothnagel M, Elger CE, Nürnberg P, Romano C, Malafosse A, Koeleman BP, Lindhout D, Stephani U, Schreiber S, Eichler EE, Sander T
    15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.
    19136953 Nature genetics , 2009 Feb. : 160-2
  • Rajab A, Aldinger KA, El-Shirbini HA, Dobyns WB, Ross ME
    Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.
    19161147 American journal of medical genetics. Part A , 2009 Feb. : 129-37
  • Glass IA, Cotter PD, Gospe SM Jr
    Other chromosomal disorders
    Current Management in Child Neurology , 2009 : 4th edition367-374
  • Hahn SH, Merritt JL II
    Inherited Metabolic Disorders.
    Oxford American Handbook of Pediatrics, F. Bruder Stapleton eds. , 2009
  • J Lawrence Merritt II, MD, Merritt, II, John Lawrence, Hahn, Sihoun
    Chapter 26 Inherited Metabolic Disorders
    Oxford American Handbood of Pediatrics , 2009 : Oxford University Press; Oxford
  • J Lawrence Merritt II, MD, Merritt, II, John Lawrence, Hahn, Sihoun
    Chapter 26 Inherited Metabolic Disorders
    Oxford American Handbook of Pediatrics , 2009
  • Kumar RA, Marshall CR, Badner JA, Babatz TD, Mukamel Z, Aldinger KA, Sudi J, Brune CW, Goh G, Karamohamed S, Sutcliffe JS, Cook EH, Geschwind DH, Dobyns WB, Scherer SW, Christian SL
    Association and mutation analyses of 16p11.2 autism candidate genes.
    19242545 PloS one , 2009 : e4582
  • Jenkins ZA, van Kogelenberg M, Morgan T, Jeffs A, Fukuzawa R, Pearl E, Thaller C, Hing AV, Porteous ME, Garcia-Miñaur S, Bohring A, Lacombe D, Stewart F, Fiskerstrand T, Bindoff L, Berland S, Adès LC, Tchan M, David A, Wilson LC, Hennekam RC, Donnai D, Mansour S, Cormier-Daire V, Robertson SP
    Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.
    19079258 Nature genetics , 2009 Jan. : 95-100
  • deWilde A, Sadilkova K, Sadilek M, Vasta V, Hahn SH
    Tryptic peptide analysis of ceruloplasmin in dried blood spots using liquid chromatography-tandem mass spectrometry: application to newborn screening.
    18845768 Clinical chemistry , 2008 Dec. : 54(12)1961-8
  • deWilde A, Sadilkova K, Sadilek M, Vasta V, Hahn SH
    Tryptic peptide analysis of ceruloplasmin in dried blood spots using liquid chromatography-tandem mass spectrometry: application to newborn screening.
    18845768 Clinical chemistry , 2008 Dec. : 54(12)1961-8
  • Blanchard S, Sadilek M, Scott CR, Turecek F, Gelb MH
    Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I.
    19042989 Clinical chemistry , 2008 Dec. : 2067-70
  • Chanda B, Asai-Coakwell M, Ye M, Mungall AJ, Barrow M, Dobyns WB, Behesti H, Sowden JC, Carter NP, Walter MA, Lehmann OJ
    A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation.
    18694899 Human molecular genetics , 2008 Nov. 15 : 3446-58
  • Doherty D, Gorden NT, Arts HH, Parisi MA, Coene KL, Letteboer SJ, van Beersum SE, Mans DA, Hikida A, Eckert M, Knutzen D, Alswaid AF, Ozyurek H, Dibooglu S, Otto EA, Liu Y, Davis EE, Hutter CM, Bammier TK, Farin FM, Dorschner M, Topcu M, Zackai EH, Rosenthal P, Owens KN, Katsanis N, Vincent JB, Hildebrandt F, Rubel EW, Raible DW, Knoers NV, Chance PF, Roepman R, Moens CB, Glass IA
    The CC2D2A gene is mutated in Joubert syndrome and implicated in the function of the primary cilium/basal body
  • Gorden NT, Arts HH, Parisi MA, Coene KL, Letteboer SJ, van Beersum SE, Mans DA, Hikida A, Eckert M, Knutzen D, Alswaid AF, Ozyurek H, Dibooglu S, Otto EA, Liu Y, Davis EE, Hutter CM, Bammler TK, Farin FM, Dorschner M, Topçu M, Zackai EH, Rosenthal P, Owens KN, Katsanis N, Vincent JB, Hildebrandt F, Rubel EW, Raible DW, Knoers NV, Chance PF, Roepman R, Moens CB, Glass IA, Doherty D
    CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
    18950740 American journal of human genetics , 2008 Nov. : 83(5)559-71 PMCID: PMC2668034
  • Gorden NT, Arts HH, Parisi MA, Coene KL, Letteboer SJ, van Beersum SE, Mans DA, Hikida A, Eckert M, Knutzen D, Alswaid AF, Ozyurek H, Dibooglu S, Otto EA, Liu Y, Davis EE, Hutter CM, Bammler TK, Farin FM, Dorschner M, Topçu M, Zackai EH, Rosenthal P, Owens KN, Katsanis N, Vincent JB, Hildebrandt F, Rubel EW, Raible DW, Knoers NV, Chance PF, Roepman R, Moens CB, Glass IA, Doherty D
    CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
    18950740 American journal of human genetics , 2008 Nov. : 559-71
  • Gorden NT, Arts HH, Parisi MA, Coene KL, Letteboer SJ, van Beersum SE, Mans DA, Hikida A, Eckert M, Knutzen D, Alswaid AF, Ozyurek H, Dibooglu S, Otto EA, Liu Y, Davis EE, Hutter CM, Bammler TK, Farin FM, Dorschner M, Topçu M, Zackai EH, Rosenthal P, Owens KN, Katsanis N, Vincent JB, Hildebrandt F, Rubel EW, Raible DW, Knoers NV, Chance PF, Roepman R, Moens CB, Glass IA, Doherty D
    CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
    18950740 American journal of human genetics , 2008 Nov. : 559-71
  • Noor A, Windpassinger C, Patel M, Stachowiak B, Mikhailov A, Azam M, Irfan M, Paterson AD, Lutufullah M, Doherty D, Vincent JB, Ayub M
    Addendum. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.
    19068953 American journal of human genetics , 2008 Nov. : 656
  • Manzini MC, Gleason D, Chang BS, Hill RS, Barry BJ, Partlow JN, Poduri A, Currier S, Galvin-Parton P, Shapiro LR, Schmidt K, Davis JG, Basel-Vanagaite L, Seidahmed MZ, Salih MA, Dobyns WB, Walsh CA
    Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
    18752264 Human mutation , 2008 Nov. : E231-41
  • Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, Bongers EM, de Leeuw N, Reardon W, Gimelli S, Bena F, Hennekam RC, Male A, Gaunt L, Clayton-Smith J, Simonic I, Park SM, Mehta SG, Nik-Zainal S, Woods CG, Firth HV, Parkin G, Fichera M, Reitano S, Lo Giudice M, Li KE, Casuga I, Broomer A, Conrad B, Schwerzmann M, Räber L, Gallati S, Striano P, Coppola A, Tolmie JL, Tobias ES, Lilley C, Armengol L, Spysschaert Y, Verloo P, De Coene A, Goossens L, Mortier G, Speleman F, van Binsbergen E, Nelen MR, Hochstenbach R, Poot M, Gallagher L, Gill M, McClellan J, King MC, Regan R, Skinner C, Stevenson RE, Antonarakis SE, Chen C, Estivill X, Menten B, Gimelli G, Gribble S, Schwartz S, Sutcliffe JS, Walsh T, Knight SJ, Sebat J, Romano C, Schwartz CE, Veltman JA, de Vries BB, Vermeesch JR, Barber JC, Willatt L, Tassabehji M, Eichler EE
    Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
    18784092 The New England journal of medicine , 2008 Oct. 16 : 1685-99
  • Najm J, Horn D, Wimplinger I, Golden JA, Chizhikov VV, Sudi J, Christian SL, Ullmann R, Kuechler A, Haas CA, Flubacher A, Charnas LR, Uyanik G, Frank U, Klopocki E, Dobyns WB, Kutsche K
    Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
    19165920 Nature genetics , 2008 Sept. : 1065-7
  • Najm J, Horn D, Wimplinger I, Golden JA, Chizhikov VV, Sudi J, Christian SL, Ullmann R, Kuechler A, Haas CA, Flubacher A, Charnas LR, Uyanik G, Frank U, Klopocki E, Dobyns WB, Kutsche K
    Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
    18690219 Nature genetics , 2008 Aug. 10
  • Parisi MA, Doherty D, Gorden NT, Hikida AM, Knutzen DM, Chance PF, Glass IA
    The molar tooth sign in 2 patients with features of Pallister Hall syndrome: evidence that Joubert syndrome has mechanistic overlap with sonic hedgehog signalling pathways
  • Glass, IA, Parisi, MA, Doherty D, Gorden, NT, Hikida AM, Knutzen DM, Gentile M, Finn L, Doybns WB, Rosenthal P, Verloes A, Stephan MJ, Chance PF
    Clinical features in 20 families with coach syndrome: causative mutations identified in more than one ciliary gene
  • Cantagrel V, Silhavy JL, Bielas SL, Swistun D, Marsh SE, Bertrand JY, Audollent S, Attié-Bitach T, Holden KR, Dobyns WB, Traver D, Al-Gazali L, Ali BR, Lindner TH, Caspary T, Otto EA, Hildebrandt F, Glass IA, Logan CV, Johnson CA, Bennett C, Brancati F, International Joubert Syndrome Related Disorders Study Group, Valente EM, Woods CG, Gleeson JG
    Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
    18674751 American journal of human genetics , 2008 Aug. : 83(2)170-9 PMCID: PMC2495072
  • Cantagrel V, Silhavy JL, Bielas SL, Swistun D, Marsh SE, Bertrand JY, Audollent S, Attié-Bitach T, Holden KR, Dobyns WB, Traver D, Al-Gazali L, Ali BR, Lindner TH, Caspary T, Otto EA, Hildebrandt F, Glass IA, Logan CV, Johnson CA, Bennett C, Brancati F, Valente EM, Woods CG, Gleeson JG
    Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
    18674751 American journal of human genetics , 2008 Aug. : 170-9
  • Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L, Dallapiccola B, Gleeson JG, Valente EM
    RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
    18565097 Clinical genetics , 2008 Aug. : 164-70
  • Cantagrel V, Silhavy JL, Bielas SL, Swistun D, Marsh SE, Bertrand JY, Audollent S, Attié-Bitach T, Holden KR, Dobyns WB, Traver D, Al-Gazali L, Ali BR, Lindner TH, Caspary T, Otto EA, Hildebrandt F, Glass IA, Logan CV, Johnson CA, Bennett C, Brancati F, Valente EM, Woods CG, Gleeson JG
    Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
    18674751 American journal of human genetics , 2008 Aug. : 170-9
  • Prahalad S, Bohnsack JF, Whiting A, Clifford B, Jorde LB, Guthery SL, Thompson SD, Glass DN, Bamshad MJ
    Lack of association of functional CTLA4 polymorphisms with juvenile idiopathic arthritis.
    18576317 Arthritis and rheumatism , 2008 July : 2147-52
  • Dobyns WB, Mirzaa G, Christian SL, Petras K, Roseberry J, Clark GD, Curry CJ, McDonald-McGinn D, Medne L, Zackai E, Parsons J, Zand DJ, Hisama FM, Walsh CA, Leventer RJ, Martin CL, Gajecka M, Shaffer LG
    Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
    18536050 American journal of medical genetics. Part A , 2008 July 1 : 1637-54
  • Christian SL, Brune CW, Sudi J, Kumar RA, Liu S, Karamohamed S, Badner JA, Matsui S, Conroy J, McQuaid D, Gergel J, Hatchwell E, Gilliam TC, Gershon ES, Nowak NJ, Dobyns WB, Cook EH Jr
    Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
    18374305 Biological psychiatry , 2008 June 15 : 1111-7
  • Hruska KS, LaMarca ME, Scott CR, Sidransky E
    Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
    18338393 Human mutation , 2008 May : 567-83
  • Bodensteiner D, Scott CR, Sims KB, Shepherd GM, Cintron RD, Germain DP
    Successful reinstitution of agalsidase beta therapy in Fabry disease patients with previous IgE-antibody or skin-test reactivity to the recombinant enzyme.
    18496035 Genetics in medicine : official journal of the American College of Medical Genetics , 2008 May : 353-8
  • Merello E, Swanson E, De Marco P, Akhter M, Striano P, Rossi A, Cama A, Leventer RJ, Guerrini R, Capra V, Dobyns WB
    No major role for the EMX2 gene in schizencephaly.
    18409201 American journal of medical genetics. Part A , 2008 May 1 : 1142-50
  • Tsuchiya KD, Opheim KE, Hannibal MC, Hing AV, Glass IA, Raff ML, Norwood T, Torchia BA
    Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization.
    18471320 Molecular cytogenetics , 2008 Apr, 21 : 17 PMCID: PMC2375883
  • Tsuchiya KD, Opheim KE, Hannibal MC, Hing AV, Glass IA, Raff ML, Norwood T, Torchia BA
    Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization.
    18471320 Molecular Cytogenetics , 2008 Apr, 21 : 7
  • Tsuchiya KD, Opheim KE, Hannibal MC, Hing AV, Glass IA, Raff ML, Norwood T, Torchia BA
    Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization.
    18471320 Molecular Cytogenetics , 2008 Apr, 21 : 7
  • Merritt JL, Lindor NM
    Further clinical description of duplication of Williams-Beuren region presenting with congenital glaucoma and brachycephaly.
    18266245 American journal of medical genetics. Part A , 2008 Apr, 15 : 146A(8)1055-8
  • Wang Y, Gatti P, Sadílek M, Scott CR, Turecek F, Gelb MH
    Direct assay of enzymes in heme biosynthesis for the detection of porphyrias by tandem mass spectrometry. Uroporphyrinogen decarboxylase and coproporphyrinogen III oxidase.
    18294003 Analytical chemistry , 2008 Apr, 1 : 2599-605
  • Wang Y, Scott CR, Gelb MH, Turecek F
    Direct assay of enzymes in heme biosynthesis for the detection of porphyrias by tandem mass spectrometry. Porphobilinogen deaminase.
    18294005 Analytical chemistry , 2008 Apr, 1 : 2606-11
  • Jalali A, Aldinger KA, Chary A, McLone DG, Bowman RM, Le LC, Jardine P, Newbury-Ecob R, Mallick A, Jafari N, Russell EJ, Curran J, Nguyen P, Ouahchi K, Lee C, Dobyns WB, Millen KJ, Pina-Neto JM, Kessler JA, Bassuk AG
    Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity.
    18204864 Human genetics , 2008 Apr, : 237-45
  • Sharp AJ, Mefford HC, Li K, Baker C, Skinner C, Stevenson RE, Schroer RJ, Novara F, De Gregori M, Ciccone R, Broomer A, Casuga I, Wang Y, Xiao C, Barbacioru C, Gimelli G, Bernardina BD, Torniero C, Giorda R, Regan R, Murday V, Mansour S, Fichera M, Castiglia L, Failla P, Ventura M, Jiang Z, Cooper GM, Knight SJ, Romano C, Zuffardi O, Chen C, Schwartz CE, Eichler EE
    A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.
    18278044 Nature genetics , 2008 Mar. : 322-8
  • Guerrini R, Dobyns WB, Barkovich AJ
    Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options.
    18262290 Trends in neurosciences , 2008 Mar. : 154-62
  • Tarini BA, Burke W, Scott CR, Wilfond BS
    Waiving informed consent in newborn screening research: balancing social value and respect.
    18200521 American journal of medical genetics. Part C, Seminars in medical genetics , 2008 Feb. 15 : 23-30
  • Kumar RA, KaraMohamed S, Sudi J, Conrad DF, Brune C, Badner JA, Gilliam TC, Nowak NJ, Cook EH Jr, Dobyns WB, Christian SL
    Recurrent 16p11.2 microdeletions in autism.
    18156158 Human molecular genetics , 2008 Feb. 15 : 628-38
  • Kornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B, Rajab A, Budde B, Nürnberg P, Foulquier F, Lefeber D, Urban Z, Gruenewald S, Annaert W, Brunner HG, van Bokhoven H, Wevers R, Morava E, Matthijs G, Van Maldergem L, Mundlos S
    Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
    18157129 Nature genetics , 2008 Jan. : 32-4
  • Leventer RJ, Guerrini R, Dobyns WB
    Malformations of cortical development and epilepsy.
    18472484 Dialogues in clinical neuroscience , 2008 : 47-62
  • Conway RL, Pressman BD, Dobyns WB, Danielpour M, Lee J, Sanchez-Lara PA, Butler MG, Zackai E, Campbell L, Saitta SC, Clericuzio CL, Milunsky JM, Hoyme HE, Shieh J, Moeschler JB, Crandall B, Lauzon JL, Viskochil DH, Harding B, Graham JM Jr
    Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.
    18000912 American journal of medical genetics. Part A , 2007 Dec. 15 : 2981-3008
  • Moog U, Jones MC, Viskochil DH, Verloes A, Van Allen MI, Dobyns WB
    Brain anomalies in encephalocraniocutaneous lipomatosis.
    18000987 American journal of medical genetics. Part A , 2007 Dec. 15 : 2963-72
  • Sanchez-Lara PA, Graham JM Jr, Hing AV, Lee J, Cunningham M
    The morphogenesis of wormian bones: a study of craniosynostosis and purposeful cranial deformation.
    18000970 American journal of medical genetics. Part A , 2007 Dec. 15 : 3243-51
  • Barkovich AJ, Millen KJ, Dobyns WB
    A developmental classification of malformations of the brainstem.
    17924529 Annals of neurology , 2007 Dec. : 625-39
  • Kang HC, Kwon JW, Lee YM, Kim HD, Lee HJ, Hahn SH
    Nonspecific mitochondrial disease with epilepsy in children: diagnostic approaches and epileptic phenotypes.
    17576572 Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery , 2007 Nov. : 23(11)1301-7
  • Kang HC, Kwon JW, Lee YM, Kim HD, Lee HJ, Hahn SH
    Nonspecific mitochondrial disease with epilepsy in children: diagnostic approaches and epileptic phenotypes.
    17576572 Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery , 2007 Nov. : 23(11)1301-7
  • Mefford HC, Clauin S, Sharp AJ, Moller RS, Ullmann R, Kapur R, Pinkel D, Cooper GM, Ventura M, Ropers HH, Tommerup N, Eichler EE, Bellanne-Chantelot C
    Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.
    17924346 American journal of human genetics , 2007 Nov. : 1057-69
  • Doherty D, Arts HH, van Beersum SEC, Parisi MA, Letteboer SJF, Gorden NT, Peters TA, Marker T, Voesenek K, Kartono A, Ozyurek H, Farin FM, Kroes HY, Wolfrum U, Brunner HG, Cremers FPM, Glass IA, Knoers NVAM, Roepman R
    Mutations in the gene encoding the basal body protein RPGRIP1L, a novel nephrocystin-4 interactor, cause Joubert syndrome
  • Tatake RJ, O'Neill MM, Kennedy CA, Reale VD, Runyan JD, Monaco KA, Yu K, Osborne WR, Barton RW, Schneiderman RD
    Glucose-regulated insulin production from genetically engineered human non-beta cells.
    17920636 Life sciences , 2007 Oct. 13 : 81(17-18)1346-54
  • Helou J, Otto EA, Attanasio M, Allen SJ, Parisi MA, Glass I, Utsch B, Hashmi S, Fazzi E, Omran H, O'Toole JF, Sayer JA, Hildebrandt F
    Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome.
    17617513 Journal of medical genetics , 2007 Oct. : 44(10)657-63 PMCID: PMC2597962
  • Borozdin W, Graham JM Jr, Böhm D, Bamshad MJ, Spranger S, Burke L, Leipoldt M, Kohlhase J
    Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay.
    17623483 Human mutation , 2007 Aug. : 830
  • Boland E, Clayton-Smith J, Woo VG, McKee S, Manson FD, Medne L, Zackai E, Swanson EA, Fitzpatrick D, Millen KJ, Sherr EH, Dobyns WB, Black GC
    Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.
    17668379 American journal of human genetics , 2007 Aug. : 292-303
  • Donsante A, Miller DG, Li Y, Vogler C, Brunt EM, Russell DW, Sands MS
    AAV vector integration sites in mouse hepatocellular carcinoma.
    17656716 Science (New York, N.Y.) , 2007 July 27 : 477
  • Arts HH, Doherty D, van Beersum SE, Parisi MA, Letteboer SJ, Gorden NT, Peters TA, Märker T, Voesenek K, Kartono A, Ozyurek H, Farin FM, Kroes HY, Wolfrum U, Brunner HG, Cremers FP, Glass IA, Knoers NV, Roepman R
    Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
    17558407 Nature genetics , 2007 July : 39(7)882-8
  • Arts HH, Doherty D, van Beersum SE, Parisi MA, Letteboer SJ, Gorden NT, Peters TA, Märker T, Voesenek K, Kartono A, Ozyurek H, Farin FM, Kroes HY, Wolfrum U, Brunner HG, Cremers FP, Glass IA, Knoers NV, Roepman R
    Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
    17558407 Nature genetics , 2007 July : 882-8
  • Beard BC, Dickerson D, Beebe K, Gooch C, Fletcher J, Okbinoglu T, Miller DG, Jacobs MA, Kaul R, Kiem HP, Trobridge GD
    Comparison of HIV-derived lentiviral and MLV-based gammaretroviral vector integration sites in primate repopulating cells.
    17440443 Molecular therapy : the journal of the American Society of Gene Therapy , 2007 July : 1356-65
  • Arts HH, Doherty D, van Beersum SE, Parisi MA, Letteboer SJ, Gorden NT, Peters TA, Märker T, Voesenek K, Kartono A, Ozyurek H, Farin FM, Kroes HY, Wolfrum U, Brunner HG, Cremers FP, Glass IA, Knoers NV, Roepman R
    Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
    17558407 Nature genetics , 2007 July : 882-8
  • Brzezinski M, Yanay O, Waldron L, Barry SC, Osborne WR
    G-CSF-lentivirus administration in rats provided sustained elevated neutrophil counts and subsequent EPO-lentivirus administration increased hematocrits.
    17510917 The journal of gene medicine , 2007 July : 9(7)571-8
  • Doherty D, Parisi MA, Glass IA
    Joubert syndrome: The New Ciliopathy
  • Parisi MA, Doherty D, Chance PF, Glass IA
    Joubert syndrome (and related disorders) (OMIM 213300).
    17377524 European journal of human genetics : EJHG , 2007 May : 15(5)511-21
  • Parisi MA, Doherty D, Chance PF, Glass IA
    Joubert syndrome (and related disorders) (OMIM 213300).
    17377524 European journal of human genetics : EJHG , 2007 May : 511-21
  • Beard BC, Keyser KA, Trobridge GD, Peterson LJ, Miller DG, Jacobs M, Kaul R, Kiem HP
    Unique integration profiles in a canine model of long-term repopulating cells transduced with gammaretrovirus, lentivirus, or foamy virus.
    17518616 Human gene therapy , 2007 May : 423-34
  • Parisi MA, Doherty D, Chance PF, Glass IA
    Joubert syndrome (and related disorders) (OMIM 213300).
    17377524 European journal of human genetics : EJHG , 2007 May : 511-21
  • Zaki M, Shehab M, El-Aleem AA, Abdel-Salam G, Koeller HB, Ilkin Y, Ross ME, Dobyns WB, Gleeson JG
    Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.
    17431900 American journal of medical genetics. Part A , 2007 May 1 : 939-44
  • Heike CL, Avellino AM, Mirza SK, Kifle Y, Perkins J, Sze R, Egbert M, Hing AV
    Sleep disturbances in 22q11.2 deletion syndrome: a case with obstructive and central sleep apnea.
    17477750 The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association , 2007 May : 340-6
  • Cunningham ML, Seto ML, Ratisoontorn C, Heike CL, Hing AV
    Syndromic craniosynostosis: from history to hydrogen bonds.
    17552943 Orthodontics & craniofacial research , 2007 May : 67-81
  • Souter VL, Parisi MA, Nyholt DR, Kapur RP, Henders AK, Opheim KE, Gunther DF, Mitchell ME, Glass IA, Montgomery GW
    A case of true hermaphroditism reveals an unusual mechanism of twinning.
    17165045 Human genetics , 2007 Apr, : 121(2)179-85
  • Souter VL, Parisi MA, Nyholt DR, Kapur RP, Henders AK, Opheim KE, Gunther DF, Mitchell ME, Glass IA, Montgomery GW
    A case of true hermaphroditism reveals an unusual mechanism of twinning.
    17165045 Human genetics , 2007 Apr, : 179-85
  • Kim JW, Lee SK, Lee ZH, Shin CU, Jung YJ, Jang KT, Lee SH, Hahn SH
    Gene symbol: DSPP.
    17598224 Human genetics , 2007 Apr, : 121(2)299
  • Williams MS, Elliott CG, Bamshad MJ
    Pulmonary disease is a component of distal arthrogryposis type 5.
    17345626 American journal of medical genetics. Part A , 2007 Apr, 1 : 752-6
  • Cantagrel V, Lossi AM, Lisgo S, Missirian C, Borges A, Philip N, Fernandez C, Cardoso C, Figarella-Branger D, Moncla A, Lindsay S, Dobyns WB, Villard L
    Truncation of NHEJ1 in a patient with polymicrogyria.
    17191205 Human mutation , 2007 Apr, : 356-64
  • Seto ML, Hing AV, Chang J, Hu M, Kapp-Simon KA, Patel PK, Burton BK, Kane AA, Smyth MD, Hopper R, Ellenbogen RG, Stevenson K, Speltz ML, Cunningham ML
    Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations.
    17343269 American journal of medical genetics. Part A , 2007 Apr, 1 : 678-86
  • Parisi MA, Doherty D, Siebert JR, Knutzen D, Shaw DW, Chance PF, Nyberg D, Glass IA
    Prenatal diagnosis in pregnancies at risk for Joubert syndrome utilizing ultrasound and MRI: review and proposed screening protocol
  • Merritt JL 2nd, Zou Y, Jalal SM, Michels VV
    Delineation of the cryptic 1qter deletion phenotype.
    17304549 American journal of medical genetics. Part A , 2007 Mar. 15 : 143(6)599-603
  • Merritt JL 2nd, Zou Y, Jalal SM, Michels VV
    Delineation of the cryptic 1qter deletion phenotype.
    17304549 American journal of medical genetics. Part A , 2007 Mar. 15 : 599-603
  • Brashear A, Dobyns WB, de Carvalho Aguiar P, Borg M, Frijns CJ, Gollamudi S, Green A, Guimaraes J, Haake BC, Klein C, Linazasoro G, Münchau A, Raymond D, Riley D, Saunders-Pullman R, Tijssen MA, Webb D, Zaremba J, Bressman SB, Ozelius LJ
    The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.
    17282997 Brain : a journal of neurology , 2007 Mar. : 828-35
  • Oglesbee D, He M, Majumder N, Vockley J, Ahmad A, Angle B, Burton B, Charrow J, Ensenauer R, Ficicioglu CH, Keppen LD, Marsden D, Tortorelli S, Hahn SH, Matern D
    Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.
    17304052 Genetics in medicine : official journal of the American College of Medical Genetics , 2007 Feb. : 9(2)108-16
  • Oglesbee D, He M, Majumder N, Vockley J, Ahmad A, Angle B, Burton B, Charrow J, Ensenauer R, Ficicioglu CH, Keppen LD, Marsden D, Tortorelli S, Hahn SH, Matern D
    Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.
    17304052 Genetics in medicine : official journal of the American College of Medical Genetics , 2007 Feb. : 9(2)108-16
  • Hu WT, Kantarci OH, Merritt JL 2nd, McGrann P, Dyck PJ, Lucchinetti CF, Tippmann-Peikert M
    Ornithine transcarbamylase deficiency presenting as encephalopathy during adulthood following bariatric surgery.
    17210820 Archives of neurology , 2007 Jan. : 64(1)126-8
  • Hu WT, Kantarci OH, Merritt JL 2nd, McGrann P, Dyck PJ, Lucchinetti CF, Tippmann-Peikert M
    Ornithine transcarbamylase deficiency presenting as encephalopathy during adulthood following bariatric surgery.
    17210820 Archives of neurology , 2007 Jan. : 126-8
  • Wang D, Wood T, Sadilek M, Scott CR, Turecek F, Gelb MH
    Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for mucopolysaccharidosis II (Hunter disease).
    17082248 Clinical chemistry , 2007 Jan. : 137-40
  • Turecek F, Scott CR, Gelb MH
    Tandem mass spectrometry in the detection of inborn errors of metabolism for newborn screening.
    17484116 Methods in molecular biology (Clifton, N.J.) , 2007 : 143-57
  • Wallace SE, Goldberg MJ, Done S
    Distal Phalanx and Nail Hypoplasia Associated with Osteopetrosis: Report of an Affected Mother and Son
  • Toydemir RM, Chen H, Proud VK, Martin R, van Bokhoven H, Hamel BC, Tuerlings JH, Stratakis CA, Jorde LB, Bamshad MJ
    Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8.
    17041932 American journal of medical genetics. Part A , 2006 Nov. 15 : 2387-93
  • Robin NH, Taylor CJ, McDonald-McGinn DM, Zackai EH, Bingham P, Collins KJ, Earl D, Gill D, Granata T, Guerrini R, Katz N, Kimonis V, Lin JP, Lynch DR, Mohammed SN, Massey RF, McDonald M, Rogers RC, Splitt M, Stevens CA, Tischkowitz MD, Stoodley N, Leventer RJ, Pilz DT, Dobyns WB
    Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.
    17036343 American journal of medical genetics. Part A , 2006 Nov. 15 : 2416-25
  • Doherty D, Levine D, Glass IA
    Outcomes in fetuses with abnormal posterior fossa imaging findings
  • Toydemir RM, Brassington AE, Bayrak-Toydemir P, Krakowiak PA, Jorde LB, Whitby FG, Longo N, Viskochil DH, Carey JC, Bamshad MJ
    A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.
    17033969 American journal of human genetics , 2006 Nov. : 935-41
  • Bleyl SB, Botto LD, Carey JC, Young LT, Bamshad MJ, Leppert MF, Ward K
    Analysis of a Scottish founder effect narrows the TAPVR-1 gene interval to chromosome 4q12.
    17036341 American journal of medical genetics. Part A , 2006 Nov. 1 : 2368-73
  • Martin RD, Maclarnon AM, Phillips JL, Dobyns WB
    Flores hominid: new species or microcephalic dwarf?
    17031806 The anatomical record. Part A, Discoveries in molecular, cellular, and evolutionary biology , 2006 Nov. : 1123-45
  • Oglesbee D, Freedenberg D, Kramer KA, Anderson BD, Hahn SH
    Normal muscle respiratory chain enzymes can complicate mitochondrial disease diagnosis.
    16996407 Pediatric neurology , 2006 Oct. : 35(4)289-92
  • Oglesbee D, Freedenberg D, Kramer KA, Anderson BD, Hahn SH
    Normal muscle respiratory chain enzymes can complicate mitochondrial disease diagnosis.
    16996407 Pediatric neurology , 2006 Oct. : 35(4)289-92
  • Kroll CA, Ferber MJ, Dawson BD, Jacobson RM, Mensink KA, Lorey F, Sherwin J, Cunningham G, Rinaldo P, Matern D, Hahn SH
    Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease.
    16644258 Molecular genetics and metabolism , 2006 Sept. : 89(1-2)134-8
  • Kroll CA, Ferber MJ, Dawson BD, Jacobson RM, Mensink KA, Lorey F, Sherwin J, Cunningham G, Rinaldo P, Matern D, Hahn SH
    Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease.
    16644258 Molecular genetics and metabolism , 2006 Sept. : 89(1-2)134-8
  • Borozdin W, Bravo-Ferrer Acosta AM, Seemanova E, Leipoldt M, Bamshad MJ, Unger S, Kohlhase J
    Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes.
    16892408 American journal of medical genetics. Part A , 2006 Sept. 1 : 1880-6
  • Borozdin W, Bravo Ferrer Acosta AM, Bamshad MJ, Botzenhart EM, Froster UG, Lemke J, Schinzel A, Spranger S, McGaughran J, Wand D, Chrzanowska KH, Kohlhase J
    Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations.
    16917909 Human mutation , 2006 Sept. : 975-6
  • Enns GM, Bai RK, Beck AE, Wong LJ
    Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load.
    16546428 Molecular genetics and metabolism , 2006 Aug. : 364-71
  • Merritt JL 2nd, Matern D, Vockley J, Daniels J, Nguyen TV, Schowalter DB
    In vitro characterization and in vivo expression of human very-long chain acyl-CoA dehydrogenase.
    16621643 Molecular genetics and metabolism , 2006 Aug. : 88(4)351-8
  • Merritt JL 2nd, Matern D, Vockley J, Daniels J, Nguyen TV, Schowalter DB
    In vitro characterization and in vivo expression of human very-long chain acyl-CoA dehydrogenase.
    16621643 Molecular genetics and metabolism , 2006 Aug. : 351-8
  • Merritt JL 2nd, Davis DM, Pittelkow MR, Babovic-Vuksanovic D
    Extensive acrochordons and pancreatic islet-cell tumors in tuberous sclerosis associated with TSC2 mutations.
    16835931 American journal of medical genetics. Part A , 2006 Aug. 1 : 1669-72
  • Aker M, Tubb J, Miller DG, Stamatoyannopoulos G, Emery DW
    Integration bias of gammaretrovirus vectors following transduction and growth of primary mouse hematopoietic progenitor cells with and without selection.
    16647882 Molecular therapy : the journal of the American Society of Gene Therapy , 2006 Aug. : 226-35
  • Miller DG, Wang PR, Petek LM, Hirata RK, Sands MS, Russell DW
    Gene targeting in vivo by adeno-associated virus vectors.
    16878127 Nature biotechnology , 2006 Aug. : 1022-6
  • Power PD, Lewin MB, Hannibal MC, Glass IA
    Aortic root dilatation is a rare complication of Noonan syndrome.
    16830086 Pediatric cardiology , 2006 July : 27(4)478-80
  • Chen YZ, Hashemi SH, Anderson SK, Huang Y, Moreira MC, Lynch DR, Glass IA, Chance PF, Bennett CL
    Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease.
    16644229 Neurobiology of disease , 2006 July : 23(1)97-108
  • Glass IA, Li L, Cotter PD
    Double aneuploidy (48,XXY,+21): molecular analysis demonstrates a maternal origin.
    16461030 European journal of medical genetics , 2006 July : 49(4)346-8
  • Glass IA, Li L, Cotter PD
    Double aneuploidy (48,XXY,+21): molecular analysis demonstrates a maternal origin.
    16461030 European journal of medical genetics , 2006 July : 346-8
  • Chen YZ, Hashemi SH, Anderson SK, Huang Y, Moreira MC, Lynch DR, Glass IA, Chance PF, Bennett CL
    Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease.
    16644229 Neurobiology of disease , 2006 July : 97-108
  • Power PD, Lewin MB, Hannibal MC, Glass IA
    Aortic root dilatation is a rare complication of Noonan syndrome.
    16830086 Pediatric cardiology , 2006 July : 478-80
  • Everman DB, Morgan CT, Lyle R, Laughridge ME, Bamshad MJ, Clarkson KB, Colby R, Gurrieri F, Innes AM, Roberson J, Schrander-Stumpel C, van Bokhoven H, Antonarakis SE, Schwartz CE
    Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation.
    16761290 American journal of medical genetics. Part A , 2006 July 1 : 1375-83
  • Sayer JA, Otto EA, O'Toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, Utsch B, Khanna H, Liu Y, Drummond I, Kawakami I, Kusakabe T, Tsuda M, Ma L, Lee H, Larson RG, Allen SJ, Wilkinson CJ, Nigg EA, Shou C, Lillo C, Williams DS, Hoppe B, Kemper MJ, Neuhaus T, Parisi MA, Glass IA, Petry M, Kispert A, Gloy J, Ganner A, Walz G, Zhu X, Goldman D, Nurnberg P, Swaroop A, Leroux MR, Hildebrandt F
    The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
    16682973 Nature genetics , 2006 June : 38(6)674-81
  • Sayer JA, Otto EA, O'Toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, Utsch B, Khanna H, Liu Y, Drummond I, Kawakami I, Kusakabe T, Tsuda M, Ma L, Lee H, Larson RG, Allen SJ, Wilkinson CJ, Nigg EA, Shou C, Lillo C, Williams DS, Hoppe B, Kemper MJ, Neuhaus T, Parisi MA, Glass IA, Petry M, Kispert A, Gloy J, Ganner A, Walz G, Zhu X, Goldman D, Nurnberg P, Swaroop A, Leroux MR, Hildebrandt F
    The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
    16682973 Nature genetics , 2006 June : 674-81
  • Scott CR
    The genetic tyrosinemias.
    16602095 American journal of medical genetics. Part C, Seminars in medical genetics , 2006 May 15 : 121-6
  • Magera MJ, Gunawardena ND, Hahn SH, Tortorelli S, Mitchell GA, Goodman SI, Rinaldo P, Matern D
    Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I.
    16448836 Molecular genetics and metabolism , 2006 May : 88(1)16-21
  • Magera MJ, Gunawardena ND, Hahn SH, Tortorelli S, Mitchell GA, Goodman SI, Rinaldo P, Matern D
    Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I.
    16448836 Molecular genetics and metabolism , 2006 May : 88(1)16-21
  • Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ
    Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome.
    16642020 Nature genetics , 2006 May : 561-5
  • Hing AV, Leblond C, Sze RW, Starr JR, Monks S, Parisi MA
    A novel oculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessive inheritance.
    16523509 American journal of medical genetics. Part A , 2006 Apr, 15 : 804-12
  • Wooding S, Bufe B, Grassi C, Howard MT, Stone AC, Vazquez M, Dunn DM, Meyerhof W, Weiss RB, Bamshad MJ
    Independent evolution of bitter-taste sensitivity in humans and chimpanzees.
    16612383 Nature , 2006 Apr, 13 : 930-4
  • Dobyns WB
    The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked.
    16720459 Acta paediatrica (Oslo, Norway : 1992). Supplement , 2006 Apr, : 11-5
  • Fitzgerald SM, Goyal RK, Osborne WR, Roy JD, Wilson JW, Ferrell RE
    Identification of functional single nucleotide polymorphism haplotypes in the cytidine deaminase promoter.
    16446974 Human genetics , 2006 Apr, : 119(3)276-83
  • Yanay O, Brzezinski M, Christensen J, Liggitt D, Dale DC, Osborne WR
    An adult dog with cyclic neutropenia treated by lentivirus- mediated delivery of granulocyte colony-stimulating factor.
    16610934 Human gene therapy , 2006 Apr, : 17(4)464-9
  • Stevenson DA, Carey JC, Palumbos J, Rutherford A, Dolcourt J, Bamshad MJ
    Clinical characteristics and natural history of Freeman-Sheldon syndrome.
    16510655 Pediatrics , 2006 Mar. : 754-62
  • Valente EM, Brancati F, Silhavy JL, Castori M, Marsh SE, Barrano G, Bertini E, Boltshauser E, Zaki MS, Abdel-Aleem A, Abdel-Salam GM, Bellacchio E, Battini R, Cruse RP, Dobyns WB, Krishnamoorthy KS, Lagier-Tourenne C, Magee A, Pascual-Castroviejo I, Salpietro CD, Sarco D, Dallapiccola B, Gleeson JG
    AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
    16453322 Annals of neurology , 2006 Mar. : 527-34
  • Ruiz-Correa S, Sze RW, Starr JR, Lin HT, Speltz ML, Cunningham ML, Hing AV
    New scaphocephaly severity indices of sagittal craniosynostosis: a comparative study with cranial index quantifications.
    16526927 The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association , 2006 Mar. : 211-21
  • Liou B, Kazimierczuk A, Zhang M, Scott CR, Hegde RS, Grabowski GA
    Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.
    16293621 The Journal of biological chemistry , 2006 Feb. 17 : 4242-53
  • Hahn SH, Minnich SJ, O'Brien JF
    Stabilization of hypoglycosylation in a patient with congenital disorder of glycosylation type Ia.
    16601903 Journal of inherited metabolic disease , 2006 Feb. : 29(1)235-7
  • Yu C, Scott CR
    Human biochemical genetics: an insight into inborn errors of metabolism.
    16421978 Journal of Zhejiang University. Science. B , 2006 Feb. : 165-6
  • Vajsar J, Zhang W, Dobyns WB, Biggar D, Holden KR, Hawkins C, Ray P, Olney AH, Burson CM, Srivastava AK, Schachter H
    Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts.
    16427280 Neuromuscular disorders : NMD , 2006 Feb. : 132-6
  • Cunningham ML, Seto ML, Hing AV, Bull MJ, Hopkin RJ, Leppig KA
    Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations.
    16463420 Birth defects research. Part A, Clinical and molecular teratology , 2006 Feb. : 78-85
  • Trobridge GD, Miller DG, Jacobs MA, Allen JM, Kiem HP, Kaul R, Russell DW
    Foamy virus vector integration sites in normal human cells.
    16428288 Proceedings of the National Academy of Sciences of the United States of America , 2006 Jan. 31 : 1498-503
  • Glass IA, Rauen KA, Chen E, Parkes J, Alberston DG, Pinkel D, Cotter PD
    Ring chromosome 15: characterization by array CGH.
    16267671 Human genetics , 2006 Jan. : 118(5)611-7
  • Glass IA, Rauen KA, Chen E, Parkes J, Alberston DG, Pinkel D, Cotter PD
    Ring chromosome 15: characterization by array CGH.
    16267671 Human genetics , 2006 Jan. : 611-7
  • Wieck G, Leventer RJ, Squier WM, Jansen A, Andermann E, Dubeau F, Ramazzotti A, Guerrini R, Dobyns WB
    Periventricular nodular heterotopia with overlying polymicrogyria.
    16311271 Brain : a journal of neurology , 2005 Dec. : 2811-21
  • Barry S, Brzezinski M, Yanay O, Seppen JE, Osborne WR
    Sustained elevation of neutrophils in rats induced by lentivirus-mediated G-CSF delivery.
    16041689 The journal of gene medicine , 2005 Dec. : 7(12)1510-6
  • Kramer KA, Oglesbee D, Hartman SJ, Huey J, Anderson B, Magera MJ, Matern D, Rinaldo P, Robinson BH, Cameron JM, Hahn SH
    Automated spectrophotometric analysis of mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblasts.
    16141288 Clinical chemistry , 2005 Nov. : 51(11)2110-6
  • Kramer KA, Oglesbee D, Hartman SJ, Huey J, Anderson B, Magera MJ, Matern D, Rinaldo P, Robinson BH, Cameron JM, Hahn SH
    Automated spectrophotometric analysis of mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblasts.
    16141288 Clinical chemistry , 2005 Nov. : 51(11)2110-6
  • Beutler E, Gelbart T, Scott CR
    Hematologically important mutations: Gaucher disease.
    16185900 Blood cells, molecules & diseases , 2005 Nov. : 355-64
  • Piao X, Chang BS, Bodell A, Woods K, Benzeev B, Topcu M, Guerrini R, Goldberg-Stern H, Sztriha L, Dobyns WB, Barkovich AJ, Walsh CA
    Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.
    16240336 Annals of neurology , 2005 Nov. : 680-7
  • Sze RW, Hopper RA, Ghioni V, Gruss JS, Ellenbogen RG, King D, Hing AV, Cunningham ML
    MDCT diagnosis of the child with posterior plagiocephaly.
    16247160 AJR. American journal of roentgenology , 2005 Nov. : 1342-6
  • Doherty D, Nyberg D, Siebert JR, Parisi MA, Shaw DWW, Strouse PJ, Chance PF, Barr M, Maria B, Glass IA
    Joubert syndrome: a paradigm for prenatal diagnosis of specific hindbrain malformations by ultrasound and MRI
  • Perri RE, Hahn SH, Ferber MJ, Kamath PS
    Wilson Disease--keeping the bar for diagnosis raised.
    16175588 Hepatology (Baltimore, Md.) , 2005 Oct. : 42(4)974
  • Perri RE, Hahn SH, Ferber MJ, Kamath PS
    Wilson Disease--keeping the bar for diagnosis raised.
    16175588 Hepatology (Baltimore, Md.) , 2005 Oct. : 42(4)974
  • Forman MS, Squier W, Dobyns WB, Golden JA
    Genotypically defined lissencephalies show distinct pathologies.
    16215456 Journal of neuropathology and experimental neurology , 2005 Oct. : 847-57
  • Miller DG, Trobridge GD, Petek LM, Jacobs MA, Kaul R, Russell DW
    Large-scale analysis of adeno-associated virus vector integration sites in normal human cells.
    16103194 Journal of virology , 2005 Sept. : 11434-42
  • Gilbert SL, Dobyns WB, Lahn BT
    Genetic links between brain development and brain evolution.
    15951746 Nature reviews. Genetics , 2005 July : 581-90
  • Doherty D, Glass IA, Siebert JR, Strouse PJ, Parisi MA, Shaw DW, Chance PF, Barr M Jr, Nyberg D
    Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.
    15966043 Prenatal diagnosis , 2005 June : 25(6)442-7
  • Doherty D, Glass IA, Siebert JR, Strouse PJ, Parisi MA, Shaw DW, Chance PF, Barr M Jr, Nyberg D
    Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.
    15966043 Prenatal diagnosis , 2005 June : 442-7
  • Doherty D, Glass IA, Siebert JR, Strouse PJ, Parisi MA, Shaw DW, Chance PF, Barr M Jr, Nyberg D
    Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.
    15966043 Prenatal diagnosis , 2005 June : 442-7
  • Shriver MD, Mei R, Parra EJ, Sonpar V, Halder I, Tishkoff SA, Schurr TG, Zhadanov SI, Osipova LP, Brutsaert TD, Friedlaender J, Jorde LB, Watkins WS, Bamshad MJ, Gutierrez G, Loi H, Matsuzaki H, Kittles RA, Argyropoulos G, Fernandez JR, Akey JM, Jones KW
    Large-scale SNP analysis reveals clustered and continuous patterns of human genetic variation.
    16004724 Human genomics , 2005 June : 81-9
  • Beck AE, Hudgins L, Hoyme HE
    Autosomal dominant microtia and ocular coloboma: new syndrome or an extension of the oculo-auriculo-vertebral spectrum?
    15800906 American journal of medical genetics. Part A , 2005 May 1 : 359-62
  • Ensenauer R, Winters JL, Parton PA, Kronn DF, Kim JW, Matern D, Rinaldo P, Hahn SH
    Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification.
    15915086 Genetics in medicine : official journal of the American College of Medical Genetics , 2005 May : 7(5)339-43
  • Ensenauer R, Winters JL, Parton PA, Kronn DF, Kim JW, Matern D, Rinaldo P, Hahn SH
    Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification.
    15915086 Genetics in medicine : official journal of the American College of Medical Genetics , 2005 May : 7(5)339-43
  • Wang D, Eadala B, Sadilek M, Chamoles NA, Turecek F, Scott CR, Gelb MH
    Tandem mass spectrometric analysis of dried blood spots for screening of mucopolysaccharidosis I in newborns.
    15695324 Clinical chemistry , 2005 May : 898-900
  • Yoon HR, Lee KR, Kang S, Lee DH, Yoo HW, Min WK, Cho DH, Shin SM, Kim J, Song J, Yoon HJ, Seo S, Hahn SH
    Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report.
    15748614 Clinica chimica acta; international journal of clinical chemistry , 2005 Apr, : 354(1-2)167-80
  • Yoon HR, Lee KR, Kang S, Lee DH, Yoo HW, Min WK, Cho DH, Shin SM, Kim J, Song J, Yoon HJ, Seo S, Hahn SH
    Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report.
    15748614 Clinica chimica acta; international journal of clinical chemistry , 2005 Apr, : 354(1-2)167-80
  • Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RC, Holmes LB, Hoyme HE, Leppig KA, Lin AE, Macleod P, Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM, Brueton L, Black GC, Biesecker LG
    Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.
    15739154 American journal of human genetics , 2005 Apr, : 609-22
  • Kato M, Dobyns WB
    X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy".
    15921244 Journal of child neurology , 2005 Apr, : 392-7
  • Gonzalez E, Kulkarni H, Bolivar H, Mangano A, Sanchez R, Catano G, Nibbs RJ, Freedman BI, Quinones MP, Bamshad MJ, Murthy KK, Rovin BH, Bradley W, Clark RA, Anderson SA, O'connell RJ, Agan BK, Ahuja SS, Bologna R, Sen L, Dolan MJ, Ahuja SK
    The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility.
    15637236 Science (New York, N.Y.) , 2005 Mar. 4 : 1434-40
  • Aligianis IA, Johnson CA, Gissen P, Chen D, Hampshire D, Hoffmann K, Maina EN, Morgan NV, Tee L, Morton J, Ainsworth JR, Horn D, Rosser E, Cole TR, Stolte-Dijkstra I, Fieggen K, Clayton-Smith J, Mégarbané A, Shield JP, Newbury-Ecob R, Dobyns WB, Graham JM Jr, Kjaer KW, Warburg M, Bond J, Trembath RC, Harris LW, Takai Y, Mundlos S, Tannahill D, Woods CG, Maher ER
    Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.
    15696165 Nature genetics , 2005 Mar. : 221-3
  • Merritt JL 2nd, Jalal SM, Barbaresi WJ, Babovic-Vuksanovic D
    14q32.3 deletion syndrome with autism.
    15657934 American journal of medical genetics. Part A , 2005 Feb. 15 : 99-100
  • Currier SC, Lee CK, Chang BS, Bodell AL, Pai GS, Job L, Lagae LG, Al-Gazali LI, Eyaid WM, Enns G, Dobyns WB, Walsh CA
    Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.
    15637732 American journal of medical genetics. Part A , 2005 Feb. 15 : 53-7
  • Tortorelli S, Hahn SH, Cowan TM, Brewster TG, Rinaldo P, Matern D
    The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I.
    15670719 Molecular genetics and metabolism , 2005 Feb. : 84(2)137-43
  • Kim JW, Hu JC, Lee JI, Moon SK, Kim YJ, Jang KT, Lee SH, Kim CC, Hahn SH, Simmer JP
    Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II.
    15592686 Human genetics , 2005 Feb. : 116(3)186-91
  • Andersson HC, Charrow J, Kaplan P, Mistry P, Pastores GM, Prakash-Cheng A, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ
    Individualization of long-term enzyme replacement therapy for Gaucher disease.
    15714077 Genetics in medicine : official journal of the American College of Medical Genetics , 2005 Feb. : 105-10
  • Wooding S, Stone AC, Dunn DM, Mummidi S, Jorde LB, Weiss RK, Ahuja S, Bamshad MJ
    Contrasting effects of natural selection on human and chimpanzee CC chemokine receptor 5.
    15625621 American journal of human genetics , 2005 Feb. : 291-301
  • Elstein D, Scott CR, Zeigler M, Abrahamov A, Zimran A
    Phenotypic heterogeneity in patients with Gaucher disease and the N370S/V394L genotype.
    15857183 Genetic testing , 2005 : 26-9
  • Doherty D
    Physiotherapy compared with advice for low back pain: study supports concept of self management of pain...
    15591572 BMJ (Clinical research ed.) , 2004 Dec. 11 : 1402; discussion 1403
  • Ensenauer R, Vockley J, Willard JM, Huey JC, Sass JO, Edland SD, Burton BK, Berry SA, Santer R, Grünert S, Koch HG, Marquardt I, Rinaldo P, Hahn S, Matern D
    A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.
    15486829 American journal of human genetics , 2004 Dec. : 75(6)1136-42 PMCID: PMC1182150
  • Ensenauer R, Vockley J, Willard JM, Huey JC, Sass JO, Edland SD, Burton BK, Berry SA, Santer R, Grünert S, Koch HG, Marquardt I, Rinaldo P, Hahn S, Matern D
    A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.
    15486829 American journal of human genetics , 2004 Dec. : 75(6)1136-42 PMCID: PMC1182150
  • Prahalad S, O'brien E, Fraser AM, Kerber RA, Mineau GP, Pratt D, Donaldson D, Bamshad MJ, Bohnsack J
    Familial aggregation of juvenile idiopathic arthritis.
    15593218 Arthritis and rheumatism , 2004 Dec. : 4022-7
  • Ian A. Glass, MB ChB, MD
    COACH syndrome: description of 3 new cases and proposed minimal diagnostic criteria
  • Li Y, Scott CR, Chamoles NA, Ghavami A, Pinto BM, Turecek F, Gelb MH
    Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening.
    15292070 Clinical chemistry , 2004 Oct. : 1785-96
  • Li Y, Scott CR, Chamoles NA, Ghavami A, Pinto BM, Turecek F, Gelb MH
    Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening.
    15292070 Clinical chemistry , 2004 Oct. : 1785-96
  • Weinreb NJ, Aggio MC, Andersson HC, Andria G, Charrow J, Clarke JT, Erikson A, Giraldo P, Goldblatt J, Hollak C, Ida H, Kaplan P, Kolodny EH, Mistry P, Pastores GM, Pires R, Prakash-Cheng A, Rosenbloom BE, Scott CR, Sobreira E, Tylki-Szymanska A, Vellodi A, vom Dahl S, Wappner RS, Zimran A
    Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients.
    15468046 Seminars in hematology , 2004 Oct. : 15-22
  • Grinberg I, Northrup H, Ardinger H, Prasad C, Dobyns WB, Millen KJ
    Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation.
    15338008 Nature genetics , 2004 Oct. : 1053-5
  • Walters BA, Raff ML, Hoeve JV, Tesser R, Langer LO, France TD, Glass IA, Pauli RM
    Spondylometaphyseal dysplasia with cone-rod dystrophy.
    15326626 American journal of medical genetics. Part A , 2004 Sept. 1 : 129A(3)265-76
  • Walters BA, Raff ML, Hoeve JV, Tesser R, Langer LO, France TD, Glass IA, Pauli RM
    Spondylometaphyseal dysplasia with cone-rod dystrophy.
    15326626 American journal of medical genetics. Part A , 2004 Sept. 1 : 265-76
  • Wallace SE, Lachman RS, Mekikian PB, Bui KK, Wilcox WR
    Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review.
    15326622 American journal of medical genetics. Part A , 2004 Sept. 1 : 129A(3)235-47
  • Dobyns WB, Filauro A, Tomson BN, Chan AS, Ho AW, Ting NT, Oosterwijk JC, Ober C
    Inheritance of most X-linked traits is not dominant or recessive, just X-linked.
    15316978 American journal of medical genetics. Part A , 2004 Aug. 30 : 136-43
  • Ian A. Glass, MB ChB, MD
    COACH syndrome: description of 3 new cases and proposed minimal diagnostic criteria for this cerebello-oculo-renal disorder
  • Minutti CZ, Lacey JM, Magera MJ, Hahn SH, McCann M, Schulze A, Cheillan D, Dorche C, Chace DH, Lymp JF, Zimmerman D, Rinaldo P, Matern D
    Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia.
    15292289 The Journal of clinical endocrinology and metabolism , 2004 Aug. : 89(8)3687-93
  • Kim JW, Nam SH, Jang KT, Lee SH, Kim CC, Hahn SH, Hu JC, Simmer JP
    A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II.
    15241678 Human genetics , 2004 Aug. : 115(3)248-54
  • Minutti CZ, Lacey JM, Magera MJ, Hahn SH, McCann M, Schulze A, Cheillan D, Dorche C, Chace DH, Lymp JF, Zimmerman D, Rinaldo P, Matern D
    Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia.
    15292289 The Journal of clinical endocrinology and metabolism , 2004 Aug. : 89(8)3687-93
  • Gregorevic P, Blankinship MJ, Allen JM, Crawford RW, Meuse L, Miller DG, Russell DW, Chamberlain JS
    Systemic delivery of genes to striated muscles using adeno-associated viral vectors.
    15273747 Nature medicine , 2004 Aug. : 828-34
  • Hing AV, Syed N, Cunningham ML
    Familial acromelic frontonasal dysostosis: autosomal dominant inheritance with reduced penetrance.
    15264282 American journal of medical genetics. Part A , 2004 Aug. 1 : 374-82
  • Graham JM Jr, Hennekam R, Dobyns WB, Roeder E, Busch D
    MICRO syndrome: an entity distinct from COFS syndrome.
    15216543 American journal of medical genetics. Part A , 2004 July 30 : 235-45
  • de Carvalho Aguiar P, Sweadner KJ, Penniston JT, Zaremba J, Liu L, Caton M, Linazasoro G, Borg M, Tijssen MA, Bressman SB, Dobyns WB, Brashear A, Ozelius LJ
    Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.
    15260953 Neuron , 2004 July 22 : 169-75
  • Parisi MA, Bennett CL, Eckert ML, Dobyns WB, Gleeson JG, Shaw DW, McDonald R, Eddy A, Chance PF, Glass IA
    The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
    15138899 American journal of human genetics , 2004 July : 75(1)82-91 PMCID: PMC1182011
  • Parisi MA, Bennett CL, Eckert ML, Dobyns WB, Gleeson JG, Shaw DW, McDonald R, Eddy A, Chance PF, Glass IA
    The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
    15138899 American journal of human genetics , 2004 July : 82-91
  • Miller DG, Petek LM, Russell DW
    Adeno-associated virus vectors integrate at chromosome breakage sites.
    15208627 Nature genetics , 2004 July : 767-73
  • Parisi MA, Bennett CL, Eckert ML, Dobyns WB, Gleeson JG, Shaw DW, McDonald R, Eddy A, Chance PF, Glass IA
    The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
    15138899 American journal of human genetics , 2004 July : 82-91
  • Kamm C, Leung J, Joseph S, Dobyns WB, Brashear A, Breakefield XO, Ozelius LJ
    Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene.
    15254951 Movement disorders : official journal of the Movement Disorder Society , 2004 July : 845-7
  • McKinney JT, Longo N, Hahn SH, Matern D, Rinaldo P, Strauss AW, Dobrowolski SF
    Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene.
    15171998 Molecular genetics and metabolism , 2004 June : 82(2)112-20
  • Tonkin ET, Wang TJ, Lisgo S, Bamshad MJ, Strachan T
    NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome.
    15146185 Nature genetics , 2004 June : 636-41
  • Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, Jukofsky L, Wasserman N, Bottani A, Morris CA, Nowaczyk MJ, Toriello H, Bamshad MJ, Carey JC, Rappaport E, Kawauchi S, Lander AD, Calof AL, Li HH, Devoto M, Jackson LG
    Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.
    15146186 Nature genetics , 2004 June : 631-5
  • Lewin MB, Glass IA, Power P
    Genotype-phenotype correlation in congenital heart disease.
    15096954 Current opinion in cardiology , 2004 May : 19(3)221-7
  • Lewin MB, Glass IA, Power P
    Genotype-phenotype correlation in congenital heart disease
    Curr Opin Cardiol , 2004 May : 19(3)221-7
  • Lewin MB, Glass IA, Power P
    Genotype-phenotype correlation in congenital heart disease.
    15096954 Current opinion in cardiology , 2004 May : 221-7
  • Wooding S, Kim UK, Bamshad MJ, Larsen J, Jorde LB, Drayna D
    Natural selection and molecular evolution in PTC, a bitter-taste receptor gene.
    14997422 American journal of human genetics , 2004 Apr, : 637-46
  • Piao X, Hill RS, Bodell A, Chang BS, Basel-Vanagaite L, Straussberg R, Dobyns WB, Qasrawi B, Winter RM, Innes AM, Voit T, Ross ME, Michaud JL, Déscarie JC, Barkovich AJ, Walsh CA
    G protein-coupled receptor-dependent development of human frontal cortex.
    15044805 Science (New York, N.Y.) , 2004 Mar. 26 : 2033-6
  • Shamseddine A, Taher A, Fakhani S, Zhang M, Scott CR, Habbal MZ
    Novel mutation, L371V, causing multigenerational Gaucher disease in a Lebanese family.
    14994233 American journal of medical genetics. Part A , 2004 Mar. 15 : 257-60
  • Keegan CE, Vilain E, Mohammed M, Lehoczky J, Dobyns WB, Archer SM, Innis JW
    Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal.
    14994240 American journal of medical genetics. Part A , 2004 Mar. 15 : 293-8
  • Parisi MA, Pinter JD, Glass IA, Field K, Maria BL, Chance PF, Mahurin RK, Cramer SC
    Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome: functional magnetic resonance imaging (MRI) study.
    15119482 Journal of child neurology , 2004 Mar. : 19(3)214-8
  • Bennett CL, Parisi MA, Eckert ML, Huynh HM, Chance PF, Glass IA
    Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene.
    14981711 American journal of medical genetics. Part A , 2004 Mar. 1 : 125A(2)117-24; discussion 117
  • Gleeson JG, Keeler LC, Parisi MA, Marsh SE, Chance PF, Glass IA, Graham Jr JM, Maria BL, Barkovich AJ, Dobyns WB
    Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.
    14981712 American journal of medical genetics. Part A , 2004 Mar. 1 : 125A(2)125-34; discussion 117
  • Bennett CL, Parisi MA, Eckert ML, Huynh HM, Chance PF, Glass IA
    Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene.
    14981711 American journal of medical genetics. Part A , 2004 Mar. 1 : 117-24; discussion 117
  • Gleeson JG, Keeler LC, Parisi MA, Marsh SE, Chance PF, Glass IA, Graham Jr JM, Maria BL, Barkovich AJ, Dobyns WB
    Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.
    14981712 American journal of medical genetics. Part A , 2004 Mar. 1 : 125-34; discussion 117
  • Parisi MA, Pinter JD, Glass IA, Field K, Maria BL, Chance PF, Mahurin RK, Cramer SC
    Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome: functional magnetic resonance imaging (MRI) study.
    15119482 Journal of child neurology , 2004 Mar. : 214-8
  • Lacey JM, Minutti CZ, Magera MJ, Tauscher AL, Casetta B, McCann M, Lymp J, Hahn SH, Rinaldo P, Matern D
    Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry.
    14656905 Clinical chemistry , 2004 Mar. : 50(3)621-5
  • Lacey JM, Minutti CZ, Magera MJ, Tauscher AL, Casetta B, McCann M, Lymp J, Hahn SH, Rinaldo P, Matern D
    Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry.
    14656905 Clinical chemistry , 2004 Mar. : 50(3)621-5
  • Li Y, Brockmann K, Turecek F, Scott CR, Gelb MH
    Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for Krabbe disease.
    14981030 Clinical chemistry , 2004 Mar. : 638-40
  • Gleeson JG, Keeler LC, Parisi MA, Marsh SE, Chance PF, Glass IA, Graham Jr JM, Maria BL, Barkovich AJ, Dobyns WB
    Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.
    14981712 American journal of medical genetics. Part A , 2004 Mar. 1 : 125-34; discussion 117
  • Stevens CA, Dobyns WB
    Septo-optic dysplasia and amniotic bands: further evidence for a vascular pathogenesis.
    14755460 American journal of medical genetics. Part A , 2004 Feb. 15 : 12-6
  • Tiranti V, D'Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E, Mandel H, Balestri P, Garcia-Silva MT, Vollmer B, Rinaldo P, Hahn SH, Leonard J, Rahman S, Dionisi-Vici C, Garavaglia B, Gasparini P, Zeviani M
    Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.
    14732903 American journal of human genetics , 2004 Feb. : 74(2)239-52 PMCID: PMC1181922
  • Tiranti V, D'Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E, Mandel H, Balestri P, Garcia-Silva MT, Vollmer B, Rinaldo P, Hahn SH, Leonard J, Rahman S, Dionisi-Vici C, Garavaglia B, Gasparini P, Zeviani M
    Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.
    14732903 American journal of human genetics , 2004 Feb. : 74(2)239-52 PMCID: PMC1181922
  • Kato M, Das S, Petras K, Kitamura K, Morohashi K, Abuelo DN, Barr M, Bonneau D, Brady AF, Carpenter NJ, Cipero KL, Frisone F, Fukuda T, Guerrini R, Iida E, Itoh M, Lewanda AF, Nanba Y, Oka A, Proud VK, Saugier-Veber P, Schelley SL, Selicorni A, Shaner R, Silengo M, Stewart F, Sugiyama N, Toyama J, Toutain A, Vargas AL, Yanazawa M, Zackai EH, Dobyns WB
    Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
    14722918 Human mutation , 2004 Feb. : 147-59
  • Roscioli T, Taylor PJ, Bohlken A, Donald JA, Masel J, Glass IA, Buckley MF
    The 10q24-linked split hand/split foot syndrome (SHFM3): narrowing of the critical region and confirmation of the clinical phenotype.
    14699611 American journal of medical genetics. Part A , 2004 Jan. 15 : 124A(2)136-41
  • Roscioli T, Taylor PJ, Bohlken A, Donald JA, Masel J, Glass IA, Buckley MF
    The 10q24-linked split hand/split foot syndrome (SHFM3): narrowing of the critical region and confirmation of the clinical phenotype.
    14699611 American journal of medical genetics. Part A , 2004 Jan. 15 : 136-41
  • Giampietro PF, Babu D, Koehn MA, Jacobson DM, Mueller-Schrader KA, Moretti C, Patten SF, Shaffer LG, Gorlin RJ, Dobyns WB
    New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria.
    14699622 American journal of medical genetics. Part A , 2004 Jan. 15 : 202-8
  • Hirata RK, Xu C, Dong R, Miller DG, Ferguson S, Russell DW
    Efficient PRNP gene targeting in bovine fibroblasts by adeno-associated virus vectors.
    15107244 Cloning and stem cells , 2004 : 31-6
  • Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Prakash-Cheng A, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ
    Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations.
    14722528 The Journal of pediatrics , 2004 Jan. : 112-20
  • Gilbert SL, Ozdag F, Ulas UH, Dobyns WB, Lahn BT
    Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families.
    15771552 Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology , 2004 : 151-5
  • Wallace SE, Lachman RS, Mekikian PB, Bui KK, Wilcox WR
    Progressive Diaphyseal Dysplasia (Camurati-Engelmann Disease): Report of a Four-Generation Pedigree, Review of the Literature, and Identification of a Mutation in TGFB1
  • Wallace SE, Lachman RS, Mekikian PB, Bui KK, Wilcox WR
    Marked Phenotype Variability in Progressive Diaphyseal Dysplasia (Camurati-Engelmann Disease): Report of a Four-Generation Pedigree, Identification of a Mutation in TGFBI, and Review
    American Journal of Medical Genetics , 2004 : 129A(3)235-247
  • Doherty MJ, Glass IA, Bennett CL, Cotter PD, Watson NF, Mitchell AL, Bird TD, Farrell DF
    An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits.
    14636323 Epilepsia , 2003 Dec. : 44(12)1529-35
  • Doherty MJ, Glass IA, Bennett CL, Cotter PD, Watson NF, Mitchell AL, Bird TD, Farrell DF
    An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits.
    14636323 Epilepsia , 2003 Dec. : 1529-35
  • Bamshad MJ, Olson SE
    Does race exist?
    14631734 Scientific American , 2003 Dec. : 78-85
  • Yanay O, Barry SC, Flint LY, Brzezinski M, Barton RW, Osborne WR
    Long-term erythropoietin gene expression from transduced cells in bioisolator devices.
    14633401 Human gene therapy , 2003 Nov. 20 : 14(17)1587-93
  • Adam MP, Manning MA, Beck AE, Kwan A, Enns GM, Clericuzio C, Hoyme HE
    Methotrexate/misoprostol embryopathy: report of four cases resulting from failed medical abortion.
    14556250 American journal of medical genetics. Part A , 2003 Nov. 15 : 72-8
  • Ian A. Glass, MB ChB, MD
    The spectrum of conditions with the molar tooth sign: more than just Joubert syndrome
  • Ian A. Glass, MB ChB, MD
    Ring 15 syndrome: Clinical cytogenetic and comparative genomic hybridization-array characterization of two discordant de novo cases
  • Callinan PA, Hedges DJ, Salem AH, Xing J, Walker JA, Garber RK, Watkins WS, Bamshad MJ, Jorde LB, Batzer MA
    Comprehensive analysis of Alu-associated diversity on the human sex chromosomes.
    14604797 Gene , 2003 Oct. 23 : 103-10
  • Yanay O, Barry SC, Katen LJ, Brzezinski M, Flint LY, Christensen J, Liggitt D, Dale DC, Osborne WR
    Treatment of canine cyclic neutropenia by lentivirus-mediated G-CSF delivery.
    12750178 Blood , 2003 Sept. 15 : 102(6)2046-52
  • Brautbar A, Elstein D, Abrahamov A, Zeigler M, Chicco G, Beutler E, Scott CR, Zimran A
    The 1604A (R496H) mutation in Gaucher disease: genotype/phenotype correlation.
    12972024 Blood cells, molecules & diseases , 2003 Sept. : 187-9; discussion 190-1
  • Parisi MA, Dobyns WB
    Human malformations of the midbrain and hindbrain: review and proposed classification scheme.
    14567956 Molecular genetics and metabolism , 2003 Sept. : 36-53
  • de Mollerat XJ, Gurrieri F, Morgan CT, Sangiorgi E, Everman DB, Gaspari P, Amiel J, Bamshad MJ, Lyle R, Blouin JL, Allanson JE, Le Marec B, Wilson M, Braverman NE, Radhakrishna U, Delozier-Blanchet C, Abbott A, Elghouzzi V, Antonarakis S, Stevenson RE, Munnich A, Neri G, Schwartz CE
    A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.
    12913067 Human molecular genetics , 2003 Aug. 15 : 1959-71
  • Hyland VJ, Robertson SP, Flanagan S, Savarirayan R, Roscioli T, Masel J, Hayes M, Glass IA
    Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia.
    12833394 American journal of medical genetics. Part A , 2003 July 15 : 120A(2)157-68
  • Hyland VJ, Robertson SP, Flanagan S, Savarirayan R, Roscioli T, Masel J, Hayes M, Glass IA
    Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia.
    12833394 American journal of medical genetics. Part A , 2003 July 15 : 157-68
  • Souter VL, Kapur RP, Nyholt DR, Skogerboe K, Myerson D, Ton CC, Opheim KE, Easterling TR, Shields LE, Montgomery GW, Glass IA
    A report of dizygous monochorionic twins.
    12853588 The New England journal of medicine , 2003 July 10 : 349(2)154-8
  • Souter VL, Kapur RP, Nyholt DR, Skogerboe K, Myerson D, Ton CC, Opheim KE, Easterling TR, Shields LE, Montgomery GW, Glass IA
    A report of dizygous monochorionic twins.
    12853588 The New England journal of medicine , 2003 July 10 : 154-8
  • Brassington AM, Sung SS, Toydemir RM, Le T, Roeder AD, Rutherford AE, Whitby FG, Jorde LB, Bamshad MJ
    Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype.
    12789647 American journal of human genetics , 2003 July : 74-85
  • Watkins WS, Rogers AR, Ostler CT, Wooding S, Bamshad MJ, Brassington AM, Carroll ML, Nguyen SV, Walker JA, Prasad BV, Reddy PG, Das PK, Batzer MA, Jorde LB
    Genetic variation among world populations: inferences from 100 Alu insertion polymorphisms.
    12805277 Genome research , 2003 July : 1607-18
  • Ramocki MB, Dowling J, Grinberg I, Kimonis VE, Cardoso C, Gross A, Chung J, Martin CL, Ledbetter DH, Dobyns WB, Millen KJ
    Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32.
    12825074 European journal of human genetics : EJHG , 2003 July : 527-34
  • Guerrini R, Moro F, Andermann E, Hughes E, D'Agostino D, Carrozzo R, Bernasconi A, Flinter F, Parmeggiani L, Volzone A, Parrini E, Mei D, Jarosz JM, Morris RG, Pratt P, Tortorella G, Dubeau F, Andermann F, Dobyns WB, Das S
    Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations.
    12838518 Annals of neurology , 2003 July : 30-7
  • Ian A. Glass, MB ChB, MD
    The Joubert syndrome (autosomal recessive cerebellar vermis hypoplasia with brainstem malformations): A Multiplex linkage approach to disease mapping and exclusion of the ZlC1 gene
  • Miller DG, Petek LM, Russell DW
    Human gene targeting by adeno-associated virus vectors is enhanced by DNA double-strand breaks.
    12724413 Molecular and cellular biology , 2003 May : 3550-7
  • Chang BS, Piao X, Bodell A, Basel-Vanagaite L, Straussberg R, Dobyns WB, Qasrawi B, Winter RM, Innes AM, Voit T, Grant PE, Barkovich AJ, Walsh CA
    Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.
    12730993 Annals of neurology , 2003 May : 596-606
  • Park HJ, Shaukat S, Liu XZ, Hahn SH, Naz S, Ghosh M, Kim HN, Moon SK, Abe S, Tukamoto K, Riazuddin S, Kabra M, Erdenetungalag R, Radnaabazar J, Khan S, Pandya A, Usami SI, Nance WE, Wilcox ER, Riazuddin S, Griffith AJ
    Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.
    12676893 Journal of medical genetics , 2003 Apr, : 40(4)242-8 PMCID: PMC1735432
  • Cardoso C, Leventer RJ, Ward HL, Toyo-Oka K, Chung J, Gross A, Martin CL, Allanson J, Pilz DT, Olney AH, Mutchinick OM, Hirotsune S, Wynshaw-Boris A, Dobyns WB, Ledbetter DH
    Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.
    12621583 American journal of human genetics , 2003 Apr, : 918-30
  • Kato M, Dobyns WB
    Lissencephaly and the molecular basis of neuronal migration.
    12668601 Human molecular genetics , 2003 Apr, 1 : R89-96
  • Bamshad MJ, Wooding S, Watkins WS, Ostler CT, Batzer MA, Jorde LB
    Human population genetic structure and inference of group membership.
    12557124 American journal of human genetics , 2003 Mar. : 578-89
  • Fu X, Rinaldo P, Hahn SH, Kodama H, Packman S
    Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes.
    12872841 Journal of inherited metabolic disease , 2003 : 26(1)55-66
  • Kim SN, Ryu KH, Lee EH, Kim JS, Hahn SH
    Molecular analysis of PCCB gene in Korean patients with propionic acidemia.
    12409268 Molecular genetics and metabolism , 2002 Nov. : 77(3)209-16
  • Kim SN, Ryu KH, Lee EH, Kim JS, Hahn SH
    Molecular analysis of PCCB gene in Korean patients with propionic acidemia.
    12409268 Molecular genetics and metabolism , 2002 Nov. : 77(3)209-16
  • Beltrán-Valero de Bernabé D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, van Bokhoven H, Brunner HG
    Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
    12369018 American journal of human genetics , 2002 Nov. : 1033-43
  • Dobyns WB
    Primary microcephaly: new approaches for an old disorder.
    12376930 American journal of medical genetics , 2002 Nov. 1 : 315-7
  • Kitamura K, Yanazawa M, Sugiyama N, Miura H, Iizuka-Kogo A, Kusaka M, Omichi K, Suzuki R, Kato-Fukui Y, Kamiirisa K, Matsuo M, Kamijo S, Kasahara M, Yoshioka H, Ogata T, Fukuda T, Kondo I, Kato M, Dobyns WB, Yokoyama M, Morohashi K
    Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.
    12379852 Nature genetics , 2002 Nov. : 359-69
  • D'Agostino MD, Bernasconi A, Das S, Bastos A, Valerio RM, Palmini A, Costa da Costa J, Scheffer IE, Berkovic S, Guerrini R, Dravet C, Ono J, Gigli G, Federico A, Booth F, Bernardi B, Volpi L, Tassinari CA, Guggenheim MA, Ledbetter DH, Gleeson JG, Lopes-Cendes I, Vossler DG, Malaspina E, Franzoni E, Sartori RJ, Mitchell MH, Mercho S, Dubeau F, Andermann F, Dobyns WB, Andermann E
    Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females.
    12390976 Brain : a journal of neurology , 2002 Nov. : 2507-22
  • Ian A. Glass, MB ChB, MD
    Multiple fetal anomalies associated with subtle subtelomeric chromosome rearrangements
  • Gonzalez E, Rovin BH, Sen L, Cooke G, Dhanda R, Mummidi S, Kulkarni H, Bamshad MJ, Telles V, Anderson SA, Walter EA, Stephan KT, Deucher M, Mangano A, Bologna R, Ahuja SS, Dolan MJ, Ahuja SK
    HIV-1 infection and AIDS dementia are influenced by a mutant MCP-1 allele linked to increased monocyte infiltration of tissues and MCP-1 levels.
    12374865 Proceedings of the National Academy of Sciences of the United States of America , 2002 Oct. 15 : 13795-800
  • Ogata Y, Scampavia L, Ruzicka J, Scott CR, Gelb MH, Turecek F
    Automated affinity capture-release of biotin-containing conjugates using a lab-on-valve apparatus coupled to UV/visible and electrospray ionization mass spectrometry.
    12349973 Analytical chemistry , 2002 Sept. 15 : 4702-8
  • Bamshad MJ, Mummidi S, Gonzalez E, Ahuja SS, Dunn DM, Watkins WS, Wooding S, Stone AC, Jorde LB, Weiss RB, Ahuja SK
    A strong signature of balancing selection in the 5' cis-regulatory region of CCR5.
    12149450 Proceedings of the National Academy of Sciences of the United States of America , 2002 Aug. 6 : 10539-44
  • Weinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Zimran A
    Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry.
    12133749 The American journal of medicine , 2002 Aug. 1 : 112-9
  • Katen LJ, Aprikyan AG, Dale DC, Osborne WR
    Cloning and sequencing of the canine neutrophil elastase cDNA.
    12487025 DNA sequence : the journal of DNA sequencing and mapping , 2002 Aug. : 13(4)221-3
  • Gygi MP, Ferguson MD, Mefford HC, Lund KP, O'Day C, Zhou P, Friedman C, van den Engh G, Stolowitz ML, Trask BJ
    Use of fluorescent sequence-specific polyamides to discriminate human chromosomes by microscopy and flow cytometry.
    12087162 Nucleic acids research , 2002 July 1 : 2790-9
  • Hahn SH, Lee SY, Jang YJ, Kim SN, Shin HC, Park SY, Han HS, Yu ES, Yoo HW, Lee JS, Chung CS, Lee SY, Lee DH
    Pilot study of mass screening for Wilson's disease in Korea.
    12083810 Molecular genetics and metabolism , 2002 June : 76(2)133-6
  • Hahn SH, Lee SY, Jang YJ, Kim SN, Shin HC, Park SY, Han HS, Yu ES, Yoo HW, Lee JS, Chung CS, Lee SY, Lee DH
    Pilot study of mass screening for Wilson's disease in Korea.
    12083810 Molecular genetics and metabolism , 2002 June : 76(2)133-6
  • Bodamer OA, Church HJ, Cooper A, Wraith JE, Scott CR, Scaglia F
    Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S).
    11992489 American journal of medical genetics , 2002 May 15 : 328-31
  • Freitas AC, Bento FM, Ramesh N, Osborne WR, Han SW
    Modified blasticidin S resistance gene (bsrm) as a selectable marker for construction of retroviral vectors.
    11879712 Journal of biotechnology , 2002 Apr, 25 : 95(1)57-62
  • Oh WJ, Kim EK, Ko JH, Yoo SH, Hahn SH, Yoo OJ
    Nuclear proteins that bind to metal response element a (MREa) in the Wilson disease gene promoter are Ku autoantigens and the Ku-80 subunit is necessary for basal transcription of the WD gene.
    11985593 European journal of biochemistry / FEBS , 2002 Apr, : 269(8)2151-61
  • Oh WJ, Kim EK, Ko JH, Yoo SH, Hahn SH, Yoo OJ
    Nuclear proteins that bind to metal response element a (MREa) in the Wilson disease gene promoter are Ku autoantigens and the Ku-80 subunit is necessary for basal transcription of the WD gene.
    11985593 European journal of biochemistry / FEBS , 2002 Apr, : 269(8)2151-61
  • Villard L, Nguyen K, Cardoso C, Martin CL, Weiss AM, Sifry-Platt M, Grix AW, Graham JM Jr, Winter RM, Leventer RJ, Dobyns WB
    A locus for bilateral perisylvian polymicrogyria maps to Xq28.
    11822025 American journal of human genetics , 2002 Apr, : 1003-8
  • Premaratne C, Klingberg S, Glass I, Wright K, Murrell D
    Epidermolysis bullosa simplex Dowling-Meara due to an arginine to cysteine substitution in exon 1 of keratin 14.
    11869205 The Australasian journal of dermatology , 2002 Feb. : 43(1)28-34
  • Mefford HC, Trask BJ
    The complex structure and dynamic evolution of human subtelomeres.
    11836503 Nature reviews. Genetics , 2002 Feb. : 91-102
  • Miller DG, Rutledge EA, Russell DW
    Chromosomal effects of adeno-associated virus vector integration.
    11799395 Nature genetics , 2002 Feb. : 147-8
  • Cardoso C, Leventer RJ, Dowling JJ, Ward HL, Chung J, Petras KS, Roseberry JA, Weiss AM, Das S, Martin CL, Pilz DT, Dobyns WB, Ledbetter DH
    Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).
    11754098 Human mutation , 2002 Jan. : 4-15
  • Yoon HR, Hahn SH, Ahn YM, Jang SH, Shin YJ, Lee EH, Ryu KH, Eun BL, Rinaldo P, Yamaguchi S
    Therapeutic trial in the first three Asian cases of ethylmalonic encephalopathy: response to riboflavin.
    11916321 Journal of inherited metabolic disease , 2001 Dec. : 24(8)870-3
  • Ian A. Glass, MB ChB, MD
    Clinical and molecular heterogeneity for Madelung deformity of childhood
  • Hahn SH, Yoo OJ, Gahl WA
    Effect of metal ions on the stability of metallothionein in the degradation by cellular fractions in vitro.
    11322484 Experimental & molecular medicine , 2001 Mar. 31 : 33(1)32-6
  • Wallace SE, Salazar D, Cormier-Daire V, Lachman RS, Wilcox WR
    Progressive Diaphyseal Dysplasia (Camurati-Engelmann Disease): Report of a 6 Generation Pedigree with Remarkable Variation in Expressivity and a Review of the Literature
  • Hong KM, Paik MK, Yoo OJ, Hahn SH
    The first successful prenatal diagnosis on a Korean family with citrullinemia.
    11211875 Molecules and cells , 2000 Dec. 31 : 10(6)692-4
  • Kim SZ, Kupke KG, Ierardi-Curto L, Holme E, Greter J, Tanguay RM, Poudrier J, D'Astous M, Lettre F, Hahn SH, Levy HL
    Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I.
    11196105 Journal of inherited metabolic disease , 2000 Dec. : 23(8)791-804
  • Ian A. Glass, MB ChB, MD
    Leri Weill dyschondrosteosis caused by SHOX splicing mutation
  • Hong KM, Shin CH, Choi YB, Song WK, Lee SD, Rhee KI, Jang P, Pak GS, Kim JK, Paik MK, Hahn SH
    Mutation analysis of Korean patients with citrullinemia.
    10987146 Molecules and cells , 2000 Aug. 31 : 10(4)465-8
  • Lee EH, Park JH, Coe CJ, Hahn SH
    A novel mutation in the beta-hexosaminidase beta-subunit gene in a 14-month-old Korean boy with Sandhoff disease: first reported Korean case.
    10923050 Human mutation , 2000 Aug. : 16(2)180-1
  • Hong KM, Hahn SH, Paik MK
    Novel 67-bp insertional mutation in the ASS gene in a patient with citrullinemia.
    10862106 Human mutation , 2000 June : 15(6)585
  • Lee JY, Yoo KH, Hahn SH
    HFE gene mutation, C282Y causing hereditary hemochromatosis in Caucasian is extremely rare in Korean population.
    10803694 Journal of Korean medical science , 2000 Apr, : 15(2)179-82 PMCID: PMC3054623
  • Wallace SE, Lachman RS, Wilcox WR
    Update on Camurati-Engelmann Disease
  • Hahn SH, Lee EH, Jung JW, Hong CH, Yoon HR, Rinaldo P, Sims H, Gibson B, Strauss AW
    Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutation.
    10431122 The Journal of pediatrics , 1999 Aug. : 135(2 Pt 1)250-3
  • Oh WJ, Kim EK, Park KD, Hahn SH, Yoo OJ
    Cloning and characterization of the promoter region of the Wilson disease gene.
    10334941 Biochemical and biophysical research communications , 1999 May 27 : 259(1)206-11
  • Wallace SE, Lachman RS, Wilcox WR
    Clinical Features of Camurati-Engelmann Disease
  • Desnick RJ, Glass IA, Xu W, Solis C, Astrin KH
    Molecular genetics of congenital erythropoietic porphyria
    Sem Liver Dis , 1998 : 1877-84
  • Kim EK, Yoo OJ, Song KY, Yoo HW, Choi SY, Cho SW, Hahn SH
    Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease.
    9554743 Human mutation , 1998 : 11(4)275-8
  • Arakawa T, Chong DK, Merritt JL, Langridge WH
    Expression of cholera toxin B subunit oligomers in transgenic potato plants.
    9423288 Transgenic research , 1997 Nov. : 6(6)403-13
  • Jeong H, Kim M, Lee J, Hahn SH, Park S, Yoo OJ
    A 5-nucleotide insertion in the antithrombin gene causing a quantitative antithrombin deficiency.
    9031474 Thrombosis and haemostasis , 1997 Jan. : 77(1)212-3
  • Wallace SE, Wilcox WR
    Camurati-Engelmann Disease
    GeneReviews at GeneTests: Medical Genetics Information Resource [database online] Available at http://www.genetests.org , 1997 - 2010
  • Yim SY, Lee IY, Rah UW, Moon HW, Hahn SH, Lee ES, Yim HL
    Linear and whorled nevoid hypermelanosis with delayed psychomotor development.
    8942300 Yonsei medical journal , 1996 Aug. : 37(4)290-4
  • Stephanie E. Wallace, MD, Lambert S and Kaneko CRS
    Possible Roles of the Nucleus Prepositus Hypoglossi in Smooth-Pursuit Eye Movements
    BIOS , 1996 : 66203-211
  • Goldstein DS, Hahn SH, Holmes C, Tifft C, Harvey-White J, Milstien S, Kaufman S
    Monoaminergic effects of folinic acid, L-DOPA, and 5-hydroxytryptophan in dihydropteridine reductase deficiency.
    7760062 Journal of neurochemistry , 1995 June : 64(6)2810-3
  • Hahn SH, Tanner MS, Danks DM, Gahl WA
    Normal metallothionein synthesis in fibroblasts obtained from children with Indian childhood cirrhosis or copper-associated childhood cirrhosis.
    8581360 Biochemical and molecular medicine , 1995 Apr, : 54(2)142-5
  • Hahn SH, Krasnewich D, Brantly M, Kvittingen EA, Gahl WA
    Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.
    7550234 Human mutation , 1995 : 6(1)66-73
  • Hahn SH, Brantly ML, Oliver C, Adamson M, Kaler SG, Gahl WA
    Metallothionein synthesis and degradation in Indian childhood cirrhosis fibroblasts.
    8165055 Pediatric research , 1994 Feb. : 35(2)197-204
  • Hahn SH, Gahl WA
    Copper effects on metal regulatory factors of cultured human fibroblasts.
    8123298 Biochemical medicine and metabolic biology , 1993 Dec. : 50(3)346-57
  • Munns C, Glass I, Pagon RA, Bird TD, Dolan CR, Stephens K
    SHOX-Related Haploinsufficiency Disorders
    20301394
  • Parisi M, Glass I, Pagon RA, Bird TD, Dolan CR, Stephens K
    Joubert Syndrome
    20301500
  • Wallace SE, Wilcox WR, Pagon RA, Bird TD, Dolan CR, Stephens K
    Camurati-Engelmann Disease
    20301335
  • Glass IA and Connor JM
    Application of DNA probes in Fragile X syndrome
    Application of molecular genetics to the diagnosis of inherited disease , 1990
  • Parisi MA, Doherty D, Eckert ML, Shaw DW, Ozyurek H, Giray O, Al Swaid A, Al Shahwan S, Dohayan N, Bakhsh E, Indridason OS, Dobyns WB, Bennett CL, Chance PF, Glass IA
    AHl1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome
  • Ravnan JB, Rosenfeld JA, Neill NJ, Bialer MG, Moore C, Wheeler P, Wallace SE, Hannibal MC, Murray MF, Giovanni MA, Schultz RA, Ballif BC, Shaffer LG
    Identification of a recurrent microdeletion of 3q13.2q13.31 associated with hypotonia and developmental delay
  • Sun A, Wang R, Puliyanda D.
    Cystic Diseases of the Kidney
    Principles and Practice of Medical Genetics