Publications

  • Gallagher ER, Evans KN, Hing AV, Cunningham ML
    Bathrocephaly: a head shape associated with a persistent mendosal suture.
    The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association , 2013 Jan. : 50(1)104-8
  • 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.
    American journal of medical genetics. Part A , 2013 Jan. : 161A(1)108-13
  • Birgfeld CB, Saltzman BS, Hing AV, Heike CL, Khanna PC, Gruss JS, Hopper RA
    Making the diagnosis: metopic ridge versus metopic craniosynostosis.
    The Journal of craniofacial surgery , 2013 Jan. : 24(1)178-85
  • 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.
    American journal of human genetics , 2012 May 4 : 90(5)907-14
  • Vasta V, Merritt JL 2nd, Saneto RP, Hahn SH
    Next-generation sequencing for mitochondrial diseases reveals wide diagnostic spectrum.
    Pediatrics international : official journal of the Japan Pediatric Society , 2012 Apr, 12
  • Targeted next-generation sequencing expands the spectrum of mitochondrial disorders.
    Genome medicine , 2012 Mar. 23 : 4(3)22
  • Targeted next-generation sequencing expands the spectrum of mitochondrial disorders.
    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.
    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.
    Journal of medical genetics , 2012 Feb. : 49(2)110-8
  • 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.
    Nature genetics , 2012 Jan. 15 : 44(2)193-9
  • Hahn SH, Kerfoot S, Vasta V
    Assay to measure oxidized and reduced forms of CoQ by LC-MS/MS.
    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.
    Methods in molecular biology (Clifton, N.J.) , 2012 : 837169-79
  • 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
  • Joubert Syndrome: Brain and Spinal Cord Malformations in Genotyped Cases and Implications for Neurodevelopmental Functions of Primary Cilia
    Acta Neuropathologica , 2012 : in press
  • Joubert Syndrome: Brain and Spinal Cord Malformations in Genotyped Cases and Implications for Neurodevelopmental Functions of Primary Cilia.
    Acta Neuropathologica , 2012 : in press
  • Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures
    Journal of Medical Genetics , 2012 : 49(2)126-37
  • 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.
    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.
    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.
    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.
    Epilepsia , 2011 Dec. : 52(12)e194-8
  • 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.
    Annals of neurology , 2011 Dec. : 70(6)974-85
  • Tabor HK, Berkman BE, Hull SC, Bamshad MJ
    Genomics really gets personal: how exome and whole genome sequencing challenge the ethical framework of human genetics research.
    American journal of medical genetics. Part A , 2011 Dec. : 2916-24
  • 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.
    Life sciences , 2011 Nov. 7 : 89(19-20)748-54
  • Merritt JL 2nd, Askenazi D, Hahn SH
    Newborn screening and renal disease: where we have been; where we are now; where we are going.
    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.
    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.
    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.
    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.
    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.
    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.
    American journal of medical genetics. Part A , 2011 Sept. : 2170-9
  • 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.
    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.
    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.
    American journal of medical genetics. Part A , 2011 Sept. : 2170-9
  • Bennett J, Hahn SH
    Clinical molecular diagnosis of Wilson disease.
    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.
    Molecular genetics and metabolism , 2011 Aug. : 103(4)349-57
  • Bennett J, Hahn SH
    Clinical molecular diagnosis of Wilson disease.
    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.
    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.
    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.
    American journal of medical genetics. Part A , 2011 July : 1511-6
  • 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.
    American journal of medical genetics. Part A , 2011 July : 155A(7)1511-6
  • 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.
    Mechanisms of ageing and development , 2011 June : 132(6-7)331-9
  • 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.
    Mechanisms of ageing and development , 2011 June : 132(6-7)331-9
  • Sun A, Hopwood JJ, Thompson J, Cederbaum SD
    Combined Hurler and Sanfilippo syndrome in a sibling pair.
    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.
    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.
    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.
    Acta neuropathologica , 2011 Apr, : 121(4)545-54
  • Sisodiya SM, Mefford HC
    Genetic contribution to common epilepsies.
    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.
    Journal of bioscience and bioengineering , 2011 Apr, : 111(4)383-7
  • 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.
    Bioinformatics (Oxford, England) , 2011 Mar. 15 : 829-36
  • Mulley JC, Mefford HC
    Epilepsy and the new cytogenetics.
    Epilepsia , 2011 Mar. : 52(3)423-32
  • Vasta V, Sedensky M, Morgan P, Hahn SH
    Altered redox status of coenzyme Q9 reflects mitochondrial electron transport chain deficiencies in Caenorhabditis elegans.
    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.
    Mitochondrion , 2011 Jan. : 11(1)136-8
  • Cooper GM, Mefford HC
    Detection of copy number variation using SNP genotyping.
    Methods in molecular biology (Clifton, N.J.) , 2011 : 767243-52
  • Miller DG, Lovell EO
    Antibiotic-induced serotonin syndrome.
    The Journal of emergency medicine , 2011 Jan. : 25-7
  • 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
  • COL4A1 Mutations Associated with a Characteristic Pattern of Intracranial Calcification
    Neuropediatrics , 2011 : Epub ahead of print
  • 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
  • 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.
    PloS one , 2011 : e24745
  • Clinical Genetics and Dysmorphology in Rudolph's Textbook of Pediatrics, 22st edition, McGraw Hill
  • 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.
    American journal of medical genetics. Part A , 2011 Jan. : 155A(1)91-7
  • 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.
    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.
    Bioorganic & medicinal chemistry letters , 2010 Oct. 15 : 5994-6
  • Ng SB, Nickerson DA, Bamshad MJ, Shendure J
    Massively parallel sequencing and rare disease.
    Human molecular genetics , 2010 Oct. 15 : R119-24
  • Mefford HC, Mulley JC
    Genetically complex epilepsies, copy number variants and syndrome constellations.
    Genome medicine , 2010 Oct. 5 : 2(10)71
  • 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.
    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.
    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.
    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.
    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.
    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.
    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.
    Nature genetics , 2010 Sept. : 790-3
  • 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.
    Nature genetics , 2010 Sept. : 42(9)790-3
  • 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.
    American journal of medical genetics. Part A , 2010 Sept. : 152A(9)2203-10
  • Petek LM, Fleckman P, Miller DG
    Efficient KRT14 targeting and functional characterization of transplanted human keratinocytes for the treatment of epidermolysis bullosa simplex.
    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.
    Nature genetics , 2010 Sept. : 790-3
  • O'Driscoll MC, Black GC, Clayton-Smith J, Sherr EH, Dobyns WB
    Identification of genomic loci contributing to agenesis of the corpus callosum.
    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?
    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.
    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.
    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.
    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.
    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.
    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.
    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.
    Human molecular genetics , 2010 July 15 : 2817-27
  • Horslen S, Hahn SH
    Genotype-phenotype correlation in Wilson disease.
    Journal of clinical gastroenterology , 2010 July : 44(6)387-8
  • Horslen S, Hahn SH
    Genotype-phenotype correlation in Wilson disease.
    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.
    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.
    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?
    American journal of medical genetics. Part A , 2010 July : 1621-6
  • Basel-Vanagaite L, Dobyns WB
    Clinical and brain imaging heterogeneity of severe microcephaly.
    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.
    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.
    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.
    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.
    The journal of gene medicine , 2010 June : 12(6)538-44
  • 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.
    PLoS genetics , 2010 May 20 : 6(5)e1000962
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    Inferring genetic ancestry: opportunities, challenges, and implications.
    American journal of human genetics , 2010 May 14 : 661-73
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    Frequent endonuclease cleavage at off-target locations in vivo.
    Molecular therapy : the journal of the American Society of Gene Therapy , 2010 May : 983-6
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    Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients.
    Brain : a journal of neurology , 2010 May : 1415-27
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    Analysis of genetic inheritance in a family quartet by whole-genome sequencing.
    Science (New York, N.Y.) , 2010 Apr, 30 : 636-9
  • Cooper GM, Goode DL, Ng SB, Sidow A, Bamshad MJ, Shendure J, Nickerson DA
    Single-nucleotide evolutionary constraint scores highlight disease-causing mutations.
    Nature methods , 2010 Apr, : 250-1
  • Cooper GM, Goode DL, Ng SB, Sidow A, Bamshad MJ, Shendure J, Nickerson DA
    Single-nucleotide evolutionary constraint scores highlight disease-causing mutations.
    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.
    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.
    Physiological genomics , 2010 Mar. 3 : 41(1)9-20
  • 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.
    Nature genetics , 2010 Mar. : 42(3)203-9
  • 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.
    Journal of medical genetics , 2010 Feb. : 81-90
  • The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia.
    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.
    Brain : a journal of neurology , 2010 Jan. : 133(Pt 1)23-32
  • 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.
    Molecular genetics and metabolism , 2010 : 100 Suppl 1S97-105
  • 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.
    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.
    Nature genetics , 2010 Jan. : 30-5
  • 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.
    Genome biology , 2010 : R113
  • 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.
    Nature genetics , 2010 Jan. : 30-5
  • Recurrence of a 1 Mb 9q34.3 subtelomeric deletion in siblings detected by oligonucleotide array
  • Macrocephaly, conductive hearing loss, atrial septal defect, and congenital radial head dislocation in a father and two sons
  • FOXL2 copy number changes in the molecular pathogenesis of BPES: Unique cohort of 17 deletions
    Human Mutation , 2010 : 31((5))E1332-E1347
  • Genotype to phenotype-discovery and characterization of novel genomic disorders in a "genotype-first" era.
    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.
    American journal of human genetics , 2009 Dec. : 909-15
  • Barkovich AJ, Millen KJ, Dobyns WB
    A developmental and genetic classification for midbrain-hindbrain malformations.
    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.
    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.
    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.
    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.
    Genome medicine , 2009 Oct. 23 : 1(10)100
  • Vasta V, Ng SB, Turner EH, Shendure J, Hahn SH
    Next generation sequence analysis for mitochondrial disorders.
    Genome medicine , 2009 Oct. 23 : 1(10)100
  • Weiss AH, Doherty D, Parisi M, Shaw D, Glass I, Phillips JO
    Eye movement abnormalities in Joubert syndrome.
    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.
    Human molecular genetics , 2009 Oct. 1 : 18(19)3626-31
  • Cohn DM, Pagon RA, Hudgins L, Schwartz CE, Stevenson RE, Friez MJ
    Partial ATRX gene duplication causes ATR-X syndrome.
    American journal of medical genetics. Part A , 2009 Oct. : 2317-20
  • Weiss AH, Doherty D, Parisi M, Shaw D, Glass I, Phillips JO
    Eye movement abnormalities in Joubert syndrome.
    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.
    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".
    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.
    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.
    The Journal of pediatrics , 2009 Sept. : 155(3)386-92.e1
  • 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.
    Genome research , 2009 Sept. : 19(9)1579-85
  • 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.
    The Journal of pediatrics , 2009 Sept. : 386-92.e1
  • Joubert syndrome: insights into brain development, cilium biology, and complex disease.
    Seminars in pediatric neurology , 2009 Sept. : 143-54
  • Aldinger KA, Lehmann OJ, Hudgins L, Chizhikov VV, Bassuk AG, Ades LC, Krantz ID, Dobyns WB, Millen KJ
    FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.
    Nature genetics , 2009 Sept. : 1037-42
  • Khoury MJ, Bertram L, Boffetta P, Butterworth AS, Chanock SJ, Dolan SM, Fortier I, Garcia-Closas M, Gwinn M, Higgins JP, Janssens AC, Ostell J, Owen RP, Pagon RA, Rebbeck TR, Rothman N, Bernstein JL, Burton PR, Campbell H, Chockalingam A, Furberg H, Little J, O'Brien TR, Seminara D, Vineis P, Winn DM, Yu W, Ioannidis JP
    Genome-wide association studies, field synopses, and the development of the knowledge base on genetic variation and human diseases.
    American journal of epidemiology , 2009 Aug. 1 : 269-79
  • 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.
    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.
    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.
    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.
    Human molecular genetics , 2009 July 1 : 2414-30
  • Waggoner DJ, Pagon RA
    Internet resources in medical genetics.
    Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.] , 2009 July : Unit 9.12
  • 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.
    European journal of human genetics : EJHG , 2009 July : 911-8
  • Mefford HC, Eichler EE
    Duplication hotspots, rare genomic disorders, and common disease.
    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.
    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.
    Epilepsia , 2009 May : 1167-75
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    Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.
    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.
    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.
    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.
    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?
    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.
    Human molecular genetics , 2009 Apr, 1 : 1200-8
  • Toydemir RM, Bamshad MJ
    Sheldon-Hall syndrome.
    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.
    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.
    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.
    Molecular therapy : the journal of the American Society of Gene Therapy , 2009 Mar. : 17(3)425-9
  • 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.
    Molecular therapy : the journal of the American Society of Gene Therapy , 2009 Mar. : 425-9
  • Lubin IM, McGovern MM, Gibson Z, Gross SJ, Lyon E, Pagon RA, Pratt VM, Rashid J, Shaw C, Stoddard L, Trotter TL, Williams MS, Amos Wilson J, Pass K
    Clinician perspectives about molecular genetic testing for heritable conditions and development of a clinician-friendly laboratory report.
    The Journal of molecular diagnostics : JMD , 2009 Mar. : 162-71
  • 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.
    American journal of human genetics , 2009 Mar. : 84(3)406-11
  • 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.
    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.
    American journal of medical genetics. Part A , 2009 Feb. : 129-37
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    Current Management in Child Neurology , 2009 : 4th edition367-374
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    Oxford American Handbook of Pediatrics, F. Bruder Stapleton eds. , 2009
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    Oxford American Handbood of Pediatrics , 2009 : Oxford University Press; Oxford
  • 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.
    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.
    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.
    Clinical chemistry , 2008 Dec. : 54(12)1961-8
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    Tryptic peptide analysis of ceruloplasmin in dried blood spots using liquid chromatography-tandem mass spectrometry: application to newborn screening.
    Clinical chemistry , 2008 Dec. : 54(12)1961-8
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    Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I.
    Clinical chemistry , 2008 Dec. : 2067-70
  • Sweet IR, Yanay O, Waldron L, Gilbert M, Fuller JM, Tupling T, Lernmark A, Osborne WR
    Treatment of diabetic rats with encapsulated islets.
    Journal of cellular and molecular medicine , 2008 Dec. : 12(6B)2644-50
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    A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation.
    Human molecular genetics , 2008 Nov. 15 : 3446-58
  • 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.
    American journal of human genetics , 2008 Nov. : 83(5)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.
    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.
    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.
    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.
    Human mutation , 2008 Nov. : E231-41
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    Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
    The New England journal of medicine , 2008 Oct. 16 : 1685-99
  • Lubin IM, Caggana M, Constantin C, Gross SJ, Lyon E, Pagon RA, Trotter TL, Wilson JA, McGovern MM
    Ordering molecular genetic tests and reporting results: practices in laboratory and clinical settings.
    The Journal of molecular diagnostics : JMD , 2008 Sept. : 459-68
  • 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.
    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.
    Nature genetics , 2008 Aug. 10
  • 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
  • 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.
    American journal of human genetics , 2008 Aug. : 83(2)170-9
  • 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.
    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.
    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.
    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.
    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.
    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.
    Biological psychiatry , 2008 June 15 : 1111-7
  • Faucett WA, Hart S, Pagon RA, Neall LF, Spinella G
    A model program to increase translation of rare disease genetic tests: collaboration, education, and test translation program.
    Genetics in medicine : official journal of the American College of Medical Genetics , 2008 May : 343-8
  • Hruska KS, LaMarca ME, Scott CR, Sidransky E
    Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
    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.
    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.
    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.
    Molecular cytogenetics , 2008 Apr, 21 : 17
  • 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.
    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.
    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.
    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.
    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.
    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.
    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.
    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.
    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.
    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.
    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.
    Nature genetics , 2008 Jan. : 32-4
  • Leventer RJ, Guerrini R, Dobyns WB
    Malformations of cortical development and epilepsy.
    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.
    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.
    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.
    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.
    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.
    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.
    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.
    American journal of human genetics , 2007 Nov. : 1057-69
  • 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.
    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.
    Journal of medical genetics , 2007 Oct. : 44(10)657-63
  • 2006 ASHG Award for Excellence in Human Genetics Education. GeneTests: Integrating genetic services into patient care.
    American journal of human genetics , 2007 Oct. : 658-9
  • 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.
    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.
    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.
    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.
    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.
    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.
    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.
    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.
    The journal of gene medicine , 2007 July : 9(7)571-8
  • Joubert syndrome: The New Ciliopathy
  • Parisi MA, Ramsdell LA, Burns MW, Carr MC, Grady RE, Gunther DF, Kletter GB, McCauley E, Mitchell ME, Opheim KE, Pihoker C, Richards GE, Soules MR, Pagon RA
    A Gender Assessment Team: experience with 250 patients over a period of 25 years.
    Genetics in medicine : official journal of the American College of Medical Genetics , 2007 June : 348-57
  • Parisi MA, Doherty D, Chance PF, Glass IA
    Joubert syndrome (and related disorders) (OMIM 213300).
    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).
    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.
    Human gene therapy , 2007 May : 423-34
  • Parisi MA, Doherty D, Chance PF, Glass IA
    Joubert syndrome (and related disorders) (OMIM 213300).
    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.
    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.
    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.
    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.
    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.
    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.
    Human genetics , 2007 Apr, : 121(2)299
  • Williams MS, Elliott CG, Bamshad MJ
    Pulmonary disease is a component of distal arthrogryposis type 5.
    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.
    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.
    American journal of medical genetics. Part A , 2007 Apr, 1 : 678-86
  • 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.
    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.
    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.
    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.
    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.
    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.
    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.
    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).
    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.
    Methods in molecular biology (Clifton, N.J.) , 2007 : 143-57
  • 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.
    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.
    American journal of medical genetics. Part A , 2006 Nov. 15 : 2416-25
  • 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.
    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.
    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?
    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.
    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.
    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.
    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.
    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.
    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.
    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.
    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.
    Molecular genetics and metabolism , 2006 Aug. : 88(4)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.
    American journal of medical genetics. Part A , 2006 Aug. 1 : 140(15)1669-72
  • 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.
    Molecular genetics and metabolism , 2006 Aug. : 351-8
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    Extensive acrochordons and pancreatic islet-cell tumors in tuberous sclerosis associated with TSC2 mutations.
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    Integration bias of gammaretrovirus vectors following transduction and growth of primary mouse hematopoietic progenitor cells with and without selection.
    Molecular therapy : the journal of the American Society of Gene Therapy , 2006 Aug. : 226-35
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    Gene targeting in vivo by adeno-associated virus vectors.
    Nature biotechnology , 2006 Aug. : 1022-6
  • Internet resources in Medical Genetics.
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  • Power PD, Lewin MB, Hannibal MC, Glass IA
    Aortic root dilatation is a rare complication of Noonan syndrome.
    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.
    Neurobiology of disease , 2006 July : 23(1)97-108
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    Double aneuploidy (48,XXY,+21): molecular analysis demonstrates a maternal origin.
    European journal of medical genetics , 2006 July : 49(4)346-8
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    Double aneuploidy (48,XXY,+21): molecular analysis demonstrates a maternal origin.
    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.
    Neurobiology of disease , 2006 July : 97-108
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    Aortic root dilatation is a rare complication of Noonan syndrome.
    Pediatric cardiology , 2006 July : 478-80
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    Journal of the Medical Library Association : JMLA , 2006 July : 343-8
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    Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation.
    American journal of medical genetics. Part A , 2006 July 1 : 1375-83
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    The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
    Nature genetics , 2006 June : 38(6)674-81
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    The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
    Nature genetics , 2006 June : 674-81
  • The genetic tyrosinemias.
    American journal of medical genetics. Part C, Seminars in medical genetics , 2006 May 15 : 121-6
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    Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I.
    Molecular genetics and metabolism , 2006 May : 88(1)16-21
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    Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I.
    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.
    Nature genetics , 2006 May : 561-5
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    A novel oculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessive inheritance.
    American journal of medical genetics. Part A , 2006 Apr, 15 : 804-12
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    Independent evolution of bitter-taste sensitivity in humans and chimpanzees.
    Nature , 2006 Apr, 13 : 930-4
  • The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked.
    Acta paediatrica (Oslo, Norway : 1992). Supplement , 2006 Apr, : 11-5
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    Identification of functional single nucleotide polymorphism haplotypes in the cytidine deaminase promoter.
    Human genetics , 2006 Apr, : 119(3)276-83
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    An adult dog with cyclic neutropenia treated by lentivirus- mediated delivery of granulocyte colony-stimulating factor.
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    Clinical characteristics and natural history of Freeman-Sheldon syndrome.
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    AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
    Annals of neurology , 2006 Mar. : 527-34
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    New scaphocephaly severity indices of sagittal craniosynostosis: a comparative study with cranial index quantifications.
    The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association , 2006 Mar. : 211-21
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    Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.
    The Journal of biological chemistry , 2006 Feb. 17 : 4242-53
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    Stabilization of hypoglycosylation in a patient with congenital disorder of glycosylation type Ia.
    Journal of inherited metabolic disease , 2006 Feb. : 29(1)235-7
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    Human biochemical genetics: an insight into inborn errors of metabolism.
    Journal of Zhejiang University. Science. B , 2006 Feb. : 165-6
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    Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts.
    Neuromuscular disorders : NMD , 2006 Feb. : 132-6
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    Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations.
    Birth defects research. Part A, Clinical and molecular teratology , 2006 Feb. : 78-85
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    Foamy virus vector integration sites in normal human cells.
    Proceedings of the National Academy of Sciences of the United States of America , 2006 Jan. 31 : 1498-503
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    Ring chromosome 15: characterization by array CGH.
    Human genetics , 2006 Jan. : 118(5)611-7
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    Human genetics , 2006 Jan. : 611-7
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    Periventricular nodular heterotopia with overlying polymicrogyria.
    Brain : a journal of neurology , 2005 Dec. : 2811-21
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    Sustained elevation of neutrophils in rats induced by lentivirus-mediated G-CSF delivery.
    The journal of gene medicine , 2005 Dec. : 7(12)1510-6
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    Automated spectrophotometric analysis of mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblasts.
    Clinical chemistry , 2005 Nov. : 51(11)2110-6
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    Automated spectrophotometric analysis of mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblasts.
    Clinical chemistry , 2005 Nov. : 51(11)2110-6
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    Hematologically important mutations: Gaucher disease.
    Blood cells, molecules & diseases , 2005 Nov. : 355-64
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    Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.
    Annals of neurology , 2005 Nov. : 680-7
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    MDCT diagnosis of the child with posterior plagiocephaly.
    AJR. American journal of roentgenology , 2005 Nov. : 1342-6
  • Joubert syndrome: a paradigm for prenatal diagnosis of specific hindbrain malformations by ultrasound and MRI
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    Wilson Disease--keeping the bar for diagnosis raised.
    Hepatology (Baltimore, Md.) , 2005 Oct. : 42(4)974
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    Wilson Disease--keeping the bar for diagnosis raised.
    Hepatology (Baltimore, Md.) , 2005 Oct. : 42(4)974
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    Genotypically defined lissencephalies show distinct pathologies.
    Journal of neuropathology and experimental neurology , 2005 Oct. : 847-57
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    Large-scale analysis of adeno-associated virus vector integration sites in normal human cells.
    Journal of virology , 2005 Sept. : 11434-42
  • Genetic testing: when to test, when to refer.
    American family physician , 2005 July 1 : 33-4
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    Genetic links between brain development and brain evolution.
    Nature reviews. Genetics , 2005 July : 581-90
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    Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.
    Prenatal diagnosis , 2005 June : 25(6)442-7
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    Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.
    Prenatal diagnosis , 2005 June : 442-7
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    Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.
    Prenatal diagnosis , 2005 June : 442-7
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    Large-scale SNP analysis reveals clustered and continuous patterns of human genetic variation.
    Human genomics , 2005 June : 81-9
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    Autosomal dominant microtia and ocular coloboma: new syndrome or an extension of the oculo-auriculo-vertebral spectrum?
    American journal of medical genetics. Part A , 2005 May 1 : 359-62
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    Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification.
    Genetics in medicine : official journal of the American College of Medical Genetics , 2005 May : 7(5)339-43
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    Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification.
    Genetics in medicine : official journal of the American College of Medical Genetics , 2005 May : 7(5)339-43
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    Tandem mass spectrometric analysis of dried blood spots for screening of mucopolysaccharidosis I in newborns.
    Clinical chemistry , 2005 May : 898-900
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    Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report.
    Clinica chimica acta; international journal of clinical chemistry , 2005 Apr, : 354(1-2)167-80
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    Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report.
    Clinica chimica acta; international journal of clinical chemistry , 2005 Apr, : 354(1-2)167-80
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    Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.
    American journal of human genetics , 2005 Apr, : 609-22
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    X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy".
    Journal of child neurology , 2005 Apr, : 392-7
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    The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility.
    Science (New York, N.Y.) , 2005 Mar. 4 : 1434-40
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    Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.
    Nature genetics , 2005 Mar. : 221-3
  • Merritt JL 2nd, Jalal SM, Barbaresi WJ, Babovic-Vuksanovic D
    14q32.3 deletion syndrome with autism.
    American journal of medical genetics. Part A , 2005 Feb. 15 : 99-100
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    Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.
    American journal of medical genetics. Part A , 2005 Feb. 15 : 53-7
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    The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I.
    Molecular genetics and metabolism , 2005 Feb. : 84(2)137-43
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    Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II.
    Human genetics , 2005 Feb. : 116(3)186-91
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    Individualization of long-term enzyme replacement therapy for Gaucher disease.
    Genetics in medicine : official journal of the American College of Medical Genetics , 2005 Feb. : 105-10
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    Contrasting effects of natural selection on human and chimpanzee CC chemokine receptor 5.
    American journal of human genetics , 2005 Feb. : 291-301
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    Phenotypic heterogeneity in patients with Gaucher disease and the N370S/V394L genotype.
    Genetic testing , 2005 : 26-9
  • Physiotherapy compared with advice for low back pain: study supports concept of self management of pain...
    BMJ (Clinical research ed.) , 2004 Dec. 11 : 1402; discussion 1403
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    A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.
    American journal of human genetics , 2004 Dec. : 75(6)1136-42
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    A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.
    American journal of human genetics , 2004 Dec. : 75(6)1136-42
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    Familial aggregation of juvenile idiopathic arthritis.
    Arthritis and rheumatism , 2004 Dec. : 4022-7
  • COACH syndrome: description of 3 new cases and proposed minimal diagnostic criteria
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    Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening.
    Clinical chemistry , 2004 Oct. : 1785-96
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    Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening.
    Clinical chemistry , 2004 Oct. : 1785-96
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    Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients.
    Seminars in hematology , 2004 Oct. : 15-22
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    Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation.
    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.
    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.
    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.
    American journal of medical genetics. Part A , 2004 Sept. 1 : 129A(3)235-47
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    Inheritance of most X-linked traits is not dominant or recessive, just X-linked.
    American journal of medical genetics. Part A , 2004 Aug. 30 : 136-43
  • COACH syndrome: description of 3 new cases and proposed minimal diagnostic criteria for this cerebello-oculo-renal disorder
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    Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia.
    The Journal of clinical endocrinology and metabolism , 2004 Aug. : 89(8)3687-93
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    A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II.
    Human genetics , 2004 Aug. : 115(3)248-54
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    Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia.
    The Journal of clinical endocrinology and metabolism , 2004 Aug. : 89(8)3687-93
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    Systemic delivery of genes to striated muscles using adeno-associated viral vectors.
    Nature medicine , 2004 Aug. : 828-34
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    Familial acromelic frontonasal dysostosis: autosomal dominant inheritance with reduced penetrance.
    American journal of medical genetics. Part A , 2004 Aug. 1 : 374-82
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    MICRO syndrome: an entity distinct from COFS syndrome.
    American journal of medical genetics. Part A , 2004 July 30 : 235-45
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    Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.
    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.
    American journal of human genetics , 2004 July : 75(1)82-91
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    The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
    American journal of human genetics , 2004 July : 82-91
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    Adeno-associated virus vectors integrate at chromosome breakage sites.
    Nature genetics , 2004 July : 767-73
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    The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
    American journal of human genetics , 2004 July : 82-91
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    Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene.
    Movement disorders : official journal of the Movement Disorder Society , 2004 July : 845-7
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    Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene.
    Molecular genetics and metabolism , 2004 June : 82(2)112-20
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    NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome.
    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.
    Nature genetics , 2004 June : 631-5
  • Lewin MB, Glass IA, Power P
    Genotype-phenotype correlation in congenital heart disease.
    Current opinion in cardiology , 2004 May : 19(3)221-7
  • 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.
    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.
    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.
    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.
    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.
    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.
    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.
    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.
    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.
    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.
    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.
    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.
    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.
    Clinical chemistry , 2004 Mar. : 50(3)621-5
  • Molecular genetic testing for inherited disorders.
    Expert review of molecular diagnostics , 2004 Mar. : 135-40
  • 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.
    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.
    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.
    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.
    American journal of human genetics , 2004 Feb. : 74(2)239-52
  • 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.
    American journal of human genetics , 2004 Feb. : 74(2)239-52
  • 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.
    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.
    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.
    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.
    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.
    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.
    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.
    Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology , 2004 : 151-5
  • Progressive Diaphyseal Dysplasia (Camurati-Engelmann Disease): Report of a Four-Generation Pedigree, Review of the Literature, and Identification of a Mutation in TGFB1
  • 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.
    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.
    Epilepsia , 2003 Dec. : 1529-35
  • Bamshad MJ, Olson SE
    Does race exist?
    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.
    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.
    American journal of medical genetics. Part A , 2003 Nov. 15 : 72-8
  • The spectrum of conditions with the molar tooth sign: more than just Joubert syndrome
  • 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.
    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.
    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.
    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.
    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.
    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.
    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.
    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.
    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.
    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.
    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.
    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.
    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.
    Annals of neurology , 2003 July : 30-7
  • Sock E, Pagon RA, Keymolen K, Lissens W, Wegner M, Scherer G
    Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia.
    Human molecular genetics , 2003 June 15 : 1439-47
  • 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.
    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.
    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.
    Journal of medical genetics , 2003 Apr, : 40(4)242-8
  • 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.
    American journal of human genetics , 2003 Apr, : 918-30
  • Kato M, Dobyns WB
    Lissencephaly and the molecular basis of neuronal migration.
    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.
    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.
    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.
    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.
    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.
    American journal of human genetics , 2002 Nov. : 1033-43
  • Primary microcephaly: new approaches for an old disorder.
    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.
    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.
    Brain : a journal of neurology , 2002 Nov. : 2507-22
  • 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.
    Proceedings of the National Academy of Sciences of the United States of America , 2002 Oct. 15 : 13795-800
  • Ogata Y, Scampavia L, Růzicka 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.
    Analytical chemistry , 2002 Sept. 15 : 4702-8
  • Beaudet N, Brodkin CA, Stover B, Daroowalla F, Flack J, Doherty D
    Crab allergen exposures aboard five crab-processing vessels.
    AIHA journal : a journal for the science of occupational and environmental health and safety , 2002 Sept. : 605-9
  • 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.
    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.
    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.
    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.
    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.
    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.
    Molecular genetics and metabolism , 2002 June : 76(2)133-6
  • Genetic testing for disease susceptibilities: consequences for genetic counseling.
    Trends in molecular medicine , 2002 June : 306-7
  • Parisi MA, Kletter GB, Grady R, Mitchell M, Ramsdell LA, Pagon RA
    Micropenis with testicular regression, low LH levels, and poor androgen and HCG responses: a distinct syndrome?
    American journal of medical genetics , 2002 May 15 : 271-7
  • 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).
    American journal of medical genetics , 2002 May 15 : 328-31
  • Pagon RA, Tarczy-Hornoch P, Baskin PK, Edwards JE, Covington ML, Espeseth M, Beahler C, Bird TD, Popovich B, Nesbitt C, Dolan C, Marymee K, Hanson NB, Neufeld-Kaiser W, Grohs GM, Kicklighter T, Abair C, Malmin A, Barclay M, Palepu RD
    GeneTests-GeneClinics: genetic testing information for a growing audience.
    Human mutation , 2002 May : 501-9
  • 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.
    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.
    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.
    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.
    American journal of human genetics , 2002 Apr, : 1003-8
  • Souter V, Nyberg D, Siebert JR, Gonzales A, Luthardt F, Hannibal M, Glass I
    Upper limb phocomelia associated with increased nuchal translucency in a monochorionic twin pregnancy.
    Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine , 2002 Mar. : 21(3)355-60
  • 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.
    The Australasian journal of dermatology , 2002 Feb. : 43(1)28-34
  • Mefford HC, Trask BJ
    The complex structure and dynamic evolution of human subtelomeres.
    Nature reviews. Genetics , 2002 Feb. : 91-102
  • Miller DG, Rutledge EA, Russell DW
    Chromosomal effects of adeno-associated virus vector integration.
    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).
    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.
    Journal of inherited metabolic disease , 2001 Dec. : 24(8)870-3
  • 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.
    Experimental & molecular medicine , 2001 Mar. 31 : 33(1)32-6
  • 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.
    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.
    Journal of inherited metabolic disease , 2000 Dec. : 23(8)791-804
  • 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.
    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.
    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.
    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.
    Journal of Korean medical science , 2000 Apr, : 15(2)179-82
  • 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.
    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.
    Biochemical and biophysical research communications , 1999 May 27 : 259(1)206-11
  • Clinical Features of Camurati-Engelmann Disease
  • 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.
    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.
    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.
    Thrombosis and haemostasis , 1997 Jan. : 77(1)212-3
  • 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.
    Yonsei medical journal , 1996 Aug. : 37(4)290-4
  • 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.
    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.
    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.
    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.
    Pediatric research , 1994 Feb. : 35(2)197-204
  • Hahn SH, Gahl WA
    Copper effects on metal regulatory factors of cultured human fibroblasts.
    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
  • Parisi M, Glass I, Pagon RA, Bird TD, Dolan CR, Stephens K
    Joubert Syndrome
  • Wallace SE, Wilcox WR, Pagon RA, Bird TD, Dolan CR, Stephens K
    Camurati-Engelmann Disease
  • Application of DNA probes in Fragile X syndrome
    Application of molecular genetics to the diagnosis of inherited disease , 1990
  • AHl1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome
  • Identification of a recurrent microdeletion of 3q13.2q13.31 associated with hypotonia and developmental delay
  • Cystic Diseases of the Kidney
    Principles and Practice of Medical Genetics