Publications

Favero CB, Henshaw RN, Grimsley-Myers CM, Shrestha A, Beier DR, Dwyer ND
Mutation of the BiP/GRP78 gene causes axon outgrowth and fasciculation defects in the thalamocortical connections of the mammalian forebrain.
The Journal of comparative neurology , 2013 Feb 15: 521(3)677-96

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: 161(1)108-13

Manning DK, Sergeev M, van Heesbeen RG, Wong MD, Oh JH, Liu Y, Henkelman RM, Drummond I, Shah JV, Beier DR
Loss of the ciliary kinase Nek8 causes left-right asymmetry defects.
Journal of the American Society of Nephrology : JASN , 2013 Jan: 24(1)100-12

Leshchiner I, Alexa K, Kelsey P, Adzhubei I, Austin-Tse CA, Cooney JD, Anderson H, King MJ, Stottmann RW, Garnaas MK, Ha S, Drummond IA, Paw BH, North TE, Beier DR, Goessling W, Sunyaev SR
Mutation mapping and identification by whole-genome sequencing.
Genome research , 2012 Aug: 22(8)1541-8

Liem KF Jr, Ashe A, He M, Satir P, Moran J, Beier D, Wicking C, Anderson KV
The IFT-A complex regulates Shh signaling through cilia structure and membrane protein trafficking.
The Journal of cell biology , 2012 Jun 11: 197(6)789-800

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

Hahn SH
Targeted next-generation sequencing expands the spectrum of mitochondrial disorders.
Genome medicine , 2012 Mar 23: 4(3)22

Fatemi SH, Aldinger KA, Ashwood P, Bauman ML, Blaha CD, Blatt GJ, Chauhan A, Chauhan V, Dager SR, Dickson PE, Estes AM, Goldowitz D, Heck DH, Kemper TL, King BH, Martin LA, Millen KJ, Mittleman G, Mosconi MW, Persico AM, Sweeney JA, Webb SJ, Welsh JP
Consensus Paper: Pathological Role of the Cerebellum in Autism.
Cerebellum (London, England) , 2012 Feb 28

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

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

Daniel A. Doherty, MD, PhD
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

Daniel A. Doherty, MD, PhD
Joubert Syndrome: Brain and Spinal Cord Malformations in Genotyped Cases and Implications for Neurodevelopmental Functions of Primary Cilia
Acta Neuropathologica , 2012: in press

Daniel A. Doherty, MD, PhD
Joubert Syndrome: Brain and Spinal Cord Malformations in Genotyped Cases and Implications for Neurodevelopmental Functions of Primary Cilia.
Acta Neuropathologica , 2012: in press

Daniel A. Doherty, MD, PhD
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures
Journal of Medical Genetics , 2012: 49(2)126-37

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

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 Sep 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 Sep 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 Sep 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 Sep 4

Veerapandiyan A, Abdul-Rahman OA, Adam MP, Lyons MJ, Manning M, Coleman K, Kobrynski L, Taneja D, Schoch K, Zimmerman HH, Shashi V
Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge.
American journal of medical genetics. Part A , 2011 Sep: 155A(9)2186-95

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 Sep: 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 Sep: 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 Sep: 2170-9

Stottmann RW, Turbe-Doan A, Tran P, Kratz LE, Moran JL, Kelley RI, Beier DR
Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo.
PLoS genetics , 2011 Sep: 7(9)e1002224

Adam MP, Polifka JE, Friedman JM
Evolving knowledge of the teratogenicity of medications in human pregnancy.
American journal of medical genetics. Part C, Seminars in medical genetics , 2011 Aug 15: 157(3)175-82

Cozzi E, Ackerman KG, Lundequist A, Drazen JM, Boyce JA, Beier DR
The naive airway hyperresponsiveness of the A/J mouse is Kit-mediated.
Proceedings of the National Academy of Sciences of the United States of America , 2011 Aug 2: 108(31)12787-92

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 Jul: 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 Jul: 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 Jun-Jul: 132(6-7)331-9

Doherty D, Millen KJ
Wormless without wingless.
Nature medicine , 2011 Jun: 17(6)663-5

Sun A, Hopwood JJ, Thompson J, Cederbaum SD
Combined Hurler and Sanfilippo syndrome in a sibling pair.
Molecular genetics and metabolism , 2011 Jun: 103(2)135-7

Chung SH, Marzban H, Aldinger K, Dixit R, Millen K, Schuurmans C, Hawkes R
Zac1 plays a key role in the development of specific neuronal subsets in the mouse cerebellum.
Neural development , 2011 May 18: 625

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

Keppler-Noreuil KM, Adam MP, Welch J, Muilenburg A, Willing MC
Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy).
American journal of medical genetics. Part A , 2011 May: 155A(5)1021-32

Slavotinek AM, Rosenfeld JA, Chao R, Niyazov D, Eswara M, Bader PI, Stockton DW, Stankiewicz P, Adam MP
A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformation.
American journal of medical genetics. Part A , 2011 May: 155A(5)1196-201

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-Jun: 28(3)333-4

Cubells JF, Deoreo EH, Harvey PD, Garlow SJ, Garber K, Adam MP, Martin CL
Pharmaco-genetically guided treatment of recurrent rage outbursts in an adult male with 15q13.3 deletion syndrome.
American journal of medical genetics. Part A , 2011 Apr: 155A(4)805-10

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

Blank MC, Grinberg I, Aryee E, Laliberte C, Chizhikov VV, Henkelman RM, Millen KJ
Multiple developmental programs are altered by loss of Zic1 and Zic4 to cause Dandy-Walker malformation cerebellar pathogenesis.
Development (Cambridge, England) , 2011 Mar: 138(6)1207-16

Daniel A. Doherty, MD, PhD
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

Daniel A. Doherty, MD, PhD
COL4A1 Mutations Associated with a Characteristic Pattern of Intracranial Calcification
Neuropediatrics , 2011: Epub ahead of print

Daniel A. Doherty, MD, PhD
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

Michael J. Bamshad, MD
Clinical Genetics and Dysmorphology in Rudolph's Textbook of Pediatrics, 22st edition, McGraw Hill
, 2011

Stephanie E. Wallace, MD
Clinical Features in a 4 year old male with trisomy 8p23.3p11.1
, 2011

Dwyer ND, Manning DK, Moran JL, Mudbhary R, Fleming MS, Favero CB, Vock VM, O'Leary DD, Walsh CA, Beier DR
A forward genetic screen with a thalamocortical axon reporter mouse yields novel neurodevelopment mutants and a distinct emx2 mutant phenotype.
Neural development , 2011 Jan 7: 63

Hussain Askree S, Hjelm LN, Ali Pervaiz M, Adam M, Bean LJ, Hedge M, Coffee B
Allelic dropout can cause false-positive results for Prader-Willi and Angelman syndrome testing.
The Journal of molecular diagnostics : JMD , 2011 Jan: 13(1)108-12

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

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

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

Bjork BC, Fujiwara Y, Davis SW, Qiu H, Saunders TL, Sandy P, Orkin S, Camper SA, Beier DR
A transient transgenic RNAi strategy for rapid characterization of gene function during embryonic development.
PloS one , 2010 Dec 16: 5(12)e14375

Moreno-De-Luca D, SGENE Consortium, Mulle JG, Simons Simplex Collection Genetics Consortium, Kaminsky EB, Sanders SJ, GeneSTAR, Myers SM, Adam MP, Pakula AT, Eisenhauer NJ, Uhas K, Weik L, Guy L, Care ME, Morel CF, Boni C, Salbert BA, Chandrareddy A, Demmer LA, Chow EW, Surti U, Aradhya S, Pickering DL, Golden DM, Sanger WG, Aston E, Brothman AR, Gliem TJ, Thorland EC, Ackley T, Iyer R, Huang S, Barber JC, Crolla JA, Warren ST, Martin CL, Ledbetter DH
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.
American journal of human genetics , 2010 Nov 12: 87(5)618-30

Shlien A, Baskin B, Achatz MI, Stavropoulos DJ, Nichols KE, Hudgins L, Morel CF, Adam MP, Zhukova N, Rotin L, Novokmet A, Druker H, Shago M, Ray PN, Hainaut P, Malkin D
A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes.
American journal of human genetics , 2010 Nov 12: 87(5)631-42

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 , Oct. 2010: 12(10)641-7

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

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 Sep 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 Sep 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 Sep 10: 354-64

Adam MP, Mehta A, Knight L, Hall DE, Rossi MR
A family with a 1.17 Mb deletion of 12q12: refining genotype-phenotype correlation.
American journal of medical genetics. Part A , 2010 Sep: 152A(9)2394-8

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 Sep: 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 Sep: 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 Sep: 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 Sep: 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 Sep: 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 Sep: 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 Sep: 2268-76

Waite A, Somer M, O'Driscoll M, Millen K, Manson FD, Chandler KE
Cerebellar hypoplasia and Cohen syndrome: a confirmed association.
American journal of medical genetics. Part A , 2010 Sep: 152A(9)2390-3

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 Sep: 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

Swanson DJ, Steshina EY, Wakenight P, Aldinger KA, Goldowitz D, Millen KJ, Chizhikov VV
Phenotypic and genetic analysis of the cerebellar mutant tmgc26, a new ENU-induced ROR-alpha allele.
The European journal of neuroscience , 2010 Aug 16

Kamp A, Peterson MA, Svenson KL, Bjork BC, Hentges KE, Rajapaksha TW, Moran J, Justice MJ, Seidman JG, Seidman CE, Moskowitz IP, Beier DR
Genome-wide identification of mouse congenital heart disease loci.
Human molecular genetics , 2010 Aug 15: 19(16)3105-13

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 Jul 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 Jul 15: 2817-27

Horslen S, Hahn SH
Genotype-phenotype correlation in Wilson disease.
Journal of clinical gastroenterology , 2010 Jul: 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 Jul: 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 Jul: 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 Jul: 1621-6

Basel-Vanagaite L, Dobyns WB
Clinical and brain imaging heterogeneity of severe microcephaly.
Pediatric neurology , 2010 Jul: 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 Jun 23

Chizhikov VV, Lindgren AG, Mishima Y, Roberts RW, Aldinger KA, Miesegaes GR, Currle DS, Monuki ES, Millen KJ
Lmx1a regulates fates and location of cells originating from the cerebellar rhombic lip and telencephalic cortical hem.
Proceedings of the National Academy of Sciences of the United States of America , 2010 Jun 8: 10725-30

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 Jun: 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 Jun: 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 Jun: 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

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
American journal of human genetics , 2010 May 14: 86(5)749-64

Royal CD, Novembre J, Fullerton SM, Goldstein DB, Long JC, Bamshad MJ, Clark AG
Inferring genetic ancestry: opportunities, challenges, and implications.
American journal of human genetics , 2010 May 14: 661-73

Bruno DL, Anderlid BM, Lindstrand A, van Ravenswaaij-Arts C, Ganesamoorthy D, Lundin J, Martin CL, Douglas J, Nowak C, Adam MP, Kooy RF, Van der Aa N, Reyniers E, Vandeweyer G, Stolte-Dijkstra I, Dijkhuizen T, Yeung A, Delatycki M, Borgström B, Thelin L, Cardoso C, van Bon B, Pfundt R, de Vries BB, Wallin A, Amor DJ, James PA, Slater HR, Schoumans J
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.
Journal of medical genetics , 2010 May: 47(5)299-311

Petek LM, Russell DW, Miller DG
Frequent endonuclease cleavage at off-target locations in vivo.
Molecular therapy : the journal of the American Society of Gene Therapy , 2010 May: 983-6

Leventer RJ, Jansen A, Pilz DT, Stoodley N, Marini C, Dubeau F, Malone J, Mitchell LA, Mandelstam S, Scheffer IE, Berkovic SF, Andermann F, Andermann E, Guerrini R, Dobyns WB
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients.
Brain : a journal of neurology , 2010 May: 1415-27

Roach JC, Glusman G, Smit AF, Huff CD, Hubley R, Shannon PT, Rowen L, Pant KP, Goodman N, Bamshad M, Shendure J, Drmanac R, Jorde LB, Hood L, Galas DJ
Analysis of genetic inheritance in a family quartet by whole-genome sequencing.
Science (New York, N.Y.) , 2010 Apr 30: 636-9

Sajan SA, Waimey KE, Millen KJ
Novel Approaches to Studying the Genetic Basis of Cerebellar Development.
Cerebellum (London, England) , 2010 Apr 13

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

Ballif BC, Theisen A, Rosenfeld JA, Traylor RN, Gastier-Foster J, Thrush DL, Astbury C, Bartholomew D, McBride KL, Pyatt RE, Shane K, Smith WE, Banks V, Gallentine WB, Brock P, Rudd MK, Adam MP, Keene JA, Phillips JA 3rd, Pfotenhauer JP, Gowans GC, Stankiewicz P, Bejjani BA, Shaffer LG
Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.
American journal of human genetics , 2010 Mar 12: 86(3)454-61

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

Bjork BC, Turbe-Doan A, Prysak M, Herron BJ, Beier DR
Prdm16 is required for normal palatogenesis in mice.
Human molecular genetics , 2010 Mar 1: 19(5)774-89

Prijoles EJ, Adam M
Mowat-Wilson syndrome with associated dysphagia.
American journal of medical genetics. Part A , 2010 Feb: 152A(2)484-5

Michael J. Bamshad, MD
Medical Genetics, 4th edition
, 2010

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

Dobyns WB
The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia.
Epilepsia , 2010 Feb: 5-9

Stephanie E. Wallace, MD
Recurrence of a 1 Mb 9q34.3 subtelomeric deletion in siblings detected by oligonucleotide array
, 2010

Stephanie E. Wallace, MD
Macrocephaly, conductive hearing loss, atrial septal defect, and congenital radial head dislocation in a father and two sons
, 2010

Stephanie E. Wallace, MD
FOXL2 copy number changes in the molecular pathogenesis of BPES: Unique cohort of 17 deletions
Human Mutation , 2010: 31((5))E1332-E1347

Smits P, Bolton AD, Funari V, Hong M, Boyden ED, Lu L, Manning DK, Dwyer ND, Moran JL, Prysak M, Merriman B, Nelson SF, Bonafé L, Superti-Furga A, Ikegawa S, Krakow D, Cohn DH, Kirchhausen T, Warman ML, Beier DR
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210.
The New England journal of medicine , 2010 Jan 21: 362(3)206-16

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

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

Mefford HC
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

Barkovich AJ, Millen KJ, Dobyns WB
A developmental and genetic classification for midbrain-hindbrain malformations.
Brain : a journal of neurology , 2009 Dec: 3199-230

Iossifov I, Rodriguez-Esteban R, Mayzus I, Millen KJ, Rzhetsky A
Looking at cerebellar malformations through text-mined interactomes of mice and humans.
PLoS computational biology , 2009 Nov: e1000559

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

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

Mishima Y, Lindgren AG, Chizhikov VV, Johnson RL, Millen KJ
Overlapping function of Lmx1a and Lmx1b in anterior hindbrain roof plate formation and cerebellar growth.
The Journal of neuroscience : the official journal of the Society for Neuroscience , 2009 Sep 9: 11377-84

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 Sep: 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 Sep: 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 Sep: 386-92.e1

Doherty D
Joubert syndrome: insights into brain development, cilium biology, and complex disease.
Seminars in pediatric neurology , 2009 Sep: 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 Sep: 1037-42

Koo SK, Hill JK, Hwang CH, Lin ZS, Millen KJ, Wu DK
Lmx1a maintains proper neurogenic, sensory, and non-sensory domains in the mammalian inner ear.
Developmental biology , 2009 Sep 1: 14-25

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 Sep: 1037-42

Aldinger KA, Elsen GE, Prince VE, Millen KJ
Model organisms inform the search for the genes and developmental pathology underlying malformations of the human hindbrain.
Seminars in pediatric neurology , 2009 Sep: 155-63

Rudd MK, Keene J, Bunke B, Kaminsky EB, Adam MP, Mulle JG, Ledbetter DH, Martin CL
Segmental duplications mediate novel, clinically relevant chromosome rearrangements.
Human molecular genetics , 2009 Aug 15: 18(16)2957-62

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 Jul 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 Jul 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 Jul: 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 Jul: 911-8

Mefford HC, Eichler EE
Duplication hotspots, rare genomic disorders, and common disease.
Current opinion in genetics & development , 2009 Jun: 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

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

Ian A. Glass, MB ChB, MD
Other chromosomal disorders
Current Management in Child Neurology , 2009: 4th edition367-374

Sihoun Hahn, MD, PhD
Inherited Metabolic Disorders.
Oxford American Handbook of Pediatrics, F. Bruder Stapleton eds. , 2009

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

J Lawrence Merritt II, MD
Chapter 26 Inherited Metabolic Disorders
Oxford American Handbood of Pediatrics , 2009: Oxford University Press; Oxford

J Lawrence Merritt II, MD
Chapter 26 Inherited Metabolic Disorders
Oxford American Handbook of Pediatrics , 2009

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

Adam MP, Justice AN, Schelley S, Kwan A, Hudgins L, Martin CL
Clinical utility of array comparative genomic hybridization: uncovering tumor susceptibility in individuals with developmental delay.
The Journal of pediatrics , 2009 Jan: 154(1)143-6

Adam MP, Hudgins L, Carey JC, Hall BD, Coleman K, Gripp KW, Perez-Aytes A, Graham JM Jr
Preaxial hallucal polydactyly as a marker for diabetic embryopathy.
Birth defects research. Part A, Clinical and molecular teratology , 2009 Jan: 85(1)13-9

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

Aldinger KA, Sokoloff G, Rosenberg DM, Palmer AA, Millen KJ
Genetic variation and population substructure in outbred CD-1 mice: implications for genome-wide association studies.
PloS one , 2009: e4729

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

Ian A. Glass, MB ChB, MD
The CC2D2A gene is mutated in Joubert syndrome and implicated in the function of the primary cilium/basal body
, Nov. 13, 2008

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

Blanchard S, Sadilek M, Scott CR, Turecek F, Gelb MH
Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I.
Clinical chemistry , 2008 Dec: 2067-70

Nichols DH, Pauley S, Jahan I, Beisel KW, Millen KJ, Fritzsch B
Lmx1a is required for segregation of sensory epithelia and normal ear histogenesis and morphogenesis.
Cell and tissue research , 2008 Dec: 339-58

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

Chanda B, Asai-Coakwell M, Ye M, Mungall AJ, Barrow M, Dobyns WB, Behesti H, Sowden JC, Carter NP, Walter MA, Lehmann OJ
A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation.
Human molecular genetics , 2008 Nov 15: 3446-58

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

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

Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, Bongers EM, de Leeuw N, Reardon W, Gimelli S, Bena F, Hennekam RC, Male A, Gaunt L, Clayton-Smith J, Simonic I, Park SM, Mehta SG, Nik-Zainal S, Woods CG, Firth HV, Parkin G, Fichera M, Reitano S, Lo Giudice M, Li KE, Casuga I, Broomer A, Conrad B, Schwerzmann M, Räber L, Gallati S, Striano P, Coppola A, Tolmie JL, Tobias ES, Lilley C, Armengol L, Spysschaert Y, Verloo P, De Coene A, Goossens L, Mortier G, Speleman F, van Binsbergen E, Nelen MR, Hochstenbach R, Poot M, Gallagher L, Gill M, McClellan J, King MC, Regan R, Skinner C, Stevenson RE, Antonarakis SE, Chen C, Estivill X, Menten B, Gimelli G, Gribble S, Schwartz S, Sutcliffe JS, Walsh T, Knight SJ, Sebat J, Romano C, Schwartz CE, Veltman JA, de Vries BB, Vermeesch JR, Barber JC, Willatt L, Tassabehji M, Eichler EE
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
The New England journal of medicine , 2008 Oct 16: 1685-99

Ian A. Glass, MB ChB, MD
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
, Aug. 8, 2008 - Aug. 13, 2008

Ian A. Glass, MB ChB, MD
Clinical features in 20 families with coach syndrome: causative mutations identified in more than one ciliary gene
, Aug. 8, 2008 - Aug. 13, 2008

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 Sep: 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 Sep: 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

Hauge X, Raca G, Cooper S, May K, Spiro R, Adam M, Martin CL
Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p.
Genetics in medicine : official journal of the American College of Medical Genetics , 2008 Aug: 10(8)599-611

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 Jul: 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 Jul 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 Jun 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

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

Binenbaum G, McDonald-McGinn DM, Zackai EH, Walker BM, Coleman K, Mach AM, Adam M, Manning M, Alcorn DM, Zabel C, Anderson DR, Forbes BJ
Sclerocornea associated with the chromosome 22q11.2 deletion syndrome.
American journal of medical genetics. Part A , 2008 Apr 1: 146(7)904-9

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

Tran PV, Haycraft CJ, Besschetnova TY, Turbe-Doan A, Stottmann RW, Herron BJ, Chesebro AL, Qiu H, Scherz PJ, Shah JV, Yoder BK, Beier DR
THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia.
Nature genetics , 2008 Apr: 40(4)403-10

Adam MP, Kobori JA, Cusmano-Ozog K, Chen KM, Hoyme HE
Progressive and symmetric supraorbital hyperostosis with bony and soft tissue overgrowth in an Ethiopian female: a newly recognized overgrowth syndrome?
American journal of medical genetics. Part A , 2008 Mar 1: 146A(5)543-7

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

Elsen GE, Choi LY, Millen KJ, Grinblat Y, Prince VE
Zic1 and Zic4 regulate zebrafish roof plate specification and hindbrain ventricle morphogenesis.
Developmental biology , 2008 Feb 15: 376-92

Millen KJ, Gleeson JG
Cerebellar development and disease.
Current opinion in neurobiology , 2008 Feb: 12-9

Adam MP, Justice AN, Bean LJ, Fernhoff PM
Mowat-Wilson syndrome with craniosynostosis: a case report.
American journal of medical genetics. Part A , 2008 Jan 15: 146A(2)245-6

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

Chen XJ, Levedakou EN, Millen KJ, Wollmann RL, Soliven B, Popko B
Proprioceptive sensory neuropathy in mice with a mutation in the cytoplasmic Dynein heavy chain 1 gene.
The Journal of neuroscience : the official journal of the Society for Neuroscience , 2007 Dec 26: 14515-24

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

Ian A. Glass, MB ChB, MD
Mutations in the gene encoding the basal body protein RPGRIP1L, a novel nephrocystin-4 interactor, cause Joubert syndrome
, Oct. 27, 2007

Niyazov DM, Nawaz Z, Justice AN, Toriello HV, Martin CL, Adam MP
Genotype/phenotype correlations in two patients with 12q subtelomere deletions.
American journal of medical genetics. Part A , 2007 Nov 15: 143A(22)2700-5

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

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

Pagon RA
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

Chizhikov VV, Davenport J, Zhang Q, Shih EK, Cabello OA, Fuchs JL, Yoder BK, Millen KJ
Cilia proteins control cerebellar morphogenesis by promoting expansion of the granule progenitor pool.
The Journal of neuroscience : the official journal of the Society for Neuroscience , 2007 Sep 5: 9780-9

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 Jul 27: 477

Ian A. Glass, MB ChB, MD
Joubert syndrome: The New Ciliopathy
, June 22, 2007

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 Jul: 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 Jul: 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 Jul: 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 Jul: 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 Jul: 9(7)571-8

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 Jun: 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

Ian A. Glass, MB ChB, MD
Prenatal diagnosis in pregnancies at risk for Joubert syndrome utilizing ultrasound and MRI: review and proposed screening protocol
, March 21, 2007 - March 25, 2007

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

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

Adam MP, Abramowsky CR, Brady AN, Coleman K, Todd NW
Rhabdomyomatous hamartomata of the pharyngeal region with bilateral microtia and aural atresia: a new association?
Birth defects research. Part A, Clinical and molecular teratology , 2007 Mar: 79(3)242-8

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

Stephanie E. Wallace, MD
Distal Phalanx and Nail Hypoplasia Associated with Osteopetrosis: Report of an Affected Mother and Son
, 2007

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

Millen KJ
Understanding cerebellar pattern formation.
Journal of visualized experiments : JoVE , 2007: 407

Blank MC, Chizhikov V, Millen KJ
In ovo electroporations of HH stage 10 chicken embryos.
Journal of visualized experiments : JoVE , 2007: 408

Adam MP, Schelley S, Gallagher R, Brady AN, Barr K, Blumberg B, Shieh JT, Graham J, Slavotinek A, Martin M, Keppler-Noreuil K, Storm AL, Hudgins L
Clinical features and management issues in Mowat-Wilson syndrome.
American journal of medical genetics. Part A , 2006 Dec 15: 140(24)2730-41

Ian A. Glass, MB ChB, MD
Outcomes in fetuses with abnormal posterior fossa imaging findings
, Nov. 9, 2006 - Nov. 12, 2006

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

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

Chizhikov V, Steshina E, Roberts R, Ilkin Y, Washburn L, Millen KJ
Molecular definition of an allelic series of mutations disrupting the mouse Lmx1a (dreher) gene.
Mammalian genome : official journal of the International Mammalian Genome Society , 2006 Oct: 1025-32

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 Sep-Oct: 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 Sep 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 Sep: 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

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: 1669-72

Aker M, Tubb J, Miller DG, Stamatoyannopoulos G, Emery DW
Integration bias of gammaretrovirus vectors following transduction and growth of primary mouse hematopoietic progenitor cells with and without selection.
Molecular therapy : the journal of the American Society of Gene Therapy , 2006 Aug: 226-35

Miller DG, Wang PR, Petek LM, Hirata RK, Sands MS, Russell DW
Gene targeting in vivo by adeno-associated virus vectors.
Nature biotechnology , 2006 Aug: 1022-6

Pagon RA
Internet resources in Medical Genetics.
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.] , 2006 Aug: Unit 9.12

Chizhikov VV, Lindgren AG, Currle DS, Rose MF, Monuki ES, Millen KJ
The roof plate regulates cerebellar cell-type specification and proliferation.
Development (Cambridge, England) , 2006 Aug: 2793-804

Power PD, Lewin MB, Hannibal MC, Glass IA
Aortic root dilatation is a rare complication of Noonan syndrome.
Pediatric cardiology , 2006 Jul-Aug: 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 Jul: 23(1)97-108

Glass IA, Li L, Cotter PD
Double aneuploidy (48,XXY,+21): molecular analysis demonstrates a maternal origin.
European journal of medical genetics , 2006 Jul-Aug: 49(4)346-8

Glass IA, Li L, Cotter PD
Double aneuploidy (48,XXY,+21): molecular analysis demonstrates a maternal origin.
European journal of medical genetics , 2006 Jul-Aug: 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 Jul: 97-108

Power PD, Lewin MB, Hannibal MC, Glass IA
Aortic root dilatation is a rare complication of Noonan syndrome.
Pediatric cardiology , 2006 Jul-Aug: 478-80

Pagon RA
GeneTests: an online genetic information resource for health care providers.
Journal of the Medical Library Association : JMLA , 2006 Jul: 343-8

Everman DB, Morgan CT, Lyle R, Laughridge ME, Bamshad MJ, Clarkson KB, Colby R, Gurrieri F, Innes AM, Roberson J, Schrander-Stumpel C, van Bokhoven H, Antonarakis SE, Schwartz CE
Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation.
American journal of medical genetics. Part A , 2006 Jul 1: 1375-83

Sayer JA, Otto EA, O'Toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, Utsch B, Khanna H, Liu Y, Drummond I, Kawakami I, Kusakabe T, Tsuda M, Ma L, Lee H, Larson RG, Allen SJ, Wilkinson CJ, Nigg EA, Shou C, Lillo C, Williams DS, Hoppe B, Kemper MJ, Neuhaus T, Parisi MA, Glass IA, Petry M, Kispert A, Gloy J, Ganner A, Walz G, Zhu X, Goldman D, Nurnberg P, Swaroop A, Leroux MR, Hildebrandt F
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
Nature genetics , 2006 Jun: 38(6)674-81

Sayer JA, Otto EA, O'Toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, Utsch B, Khanna H, Liu Y, Drummond I, Kawakami I, Kusakabe T, Tsuda M, Ma L, Lee H, Larson RG, Allen SJ, Wilkinson CJ, Nigg EA, Shou C, Lillo C, Williams DS, Hoppe B, Kemper MJ, Neuhaus T, Parisi MA, Glass IA, Petry M, Kispert A, Gloy J, Ganner A, Walz G, Zhu X, Goldman D, Nurnberg P, Swaroop A, Leroux MR, Hildebrandt F
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
Nature genetics , 2006 Jun: 674-81

Scott CR
The genetic tyrosinemias.
American journal of medical genetics. Part C, Seminars in medical genetics , 2006 May 15: 121-6

Magera MJ, Gunawardena ND, Hahn SH, Tortorelli S, Mitchell GA, Goodman SI, Rinaldo P, Matern D
Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I.
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

McDonald-McGinn DM, Reilly A, Wallgren-Pettersson C, Hoyme HE, Yang SP, Adam MP, Zackai EH, Sullivan KE
Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
American journal of medical genetics. Part A , 2006 Apr 15: 140(8)906-9

Hing AV, Leblond C, Sze RW, Starr JR, Monks S, Parisi MA
A novel oculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessive inheritance.
American journal of medical genetics. Part A , 2006 Apr 15: 804-12

Wooding S, Bufe B, Grassi C, Howard MT, Stone AC, Vazquez M, Dunn DM, Meyerhof W, Weiss RB, Bamshad MJ
Independent evolution of bitter-taste sensitivity in humans and chimpanzees.
Nature , 2006 Apr 13: 930-4

Dobyns WB
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

Fitzgerald SM, Goyal RK, Osborne WR, Roy JD, Wilson JW, Ferrell RE
Identification of functional single nucleotide polymorphism haplotypes in the cytidine deaminase promoter.
Human genetics , 2006 Apr: 119(3)276-83

Yanay O, Brzezinski M, Christensen J, Liggitt D, Dale DC, Osborne WR
An adult dog with cyclic neutropenia treated by lentivirus- mediated delivery of granulocyte colony-stimulating factor.
Human gene therapy , 2006 Apr: 17(4)464-9

Stevenson DA, Carey JC, Palumbos J, Rutherford A, Dolcourt J, Bamshad MJ
Clinical characteristics and natural history of Freeman-Sheldon syndrome.
Pediatrics , 2006 Mar: 754-62

Valente EM, Brancati F, Silhavy JL, Castori M, Marsh SE, Barrano G, Bertini E, Boltshauser E, Zaki MS, Abdel-Aleem A, Abdel-Salam GM, Bellacchio E, Battini R, Cruse RP, Dobyns WB, Krishnamoorthy KS, Lagier-Tourenne C, Magee A, Pascual-Castroviejo I, Salpietro CD, Sarco D, Dallapiccola B, Gleeson JG
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
Annals of neurology , 2006 Mar: 527-34

Ruiz-Correa S, Sze RW, Starr JR, Lin HT, Speltz ML, Cunningham ML, Hing AV
New scaphocephaly severity indices of sagittal craniosynostosis: a comparative study with cranial index quantifications.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association , 2006 Mar: 211-21

Moran JL, Bolton AD, Tran PV, Brown A, Dwyer ND, Manning DK, Bjork BC, Li C, Montgomery K, Siepka SM, Vitaterna MH, Takahashi JS, Wiltshire T, Kwiatkowski DJ, Kucherlapati R, Beier DR
Utilization of a whole genome SNP panel for efficient genetic mapping in the mouse.
Genome research , 2006 Mar: 16(3)436-40

Liou B, Kazimierczuk A, Zhang M, Scott CR, Hegde RS, Grabowski GA
Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.
The Journal of biological chemistry , 2006 Feb 17: 4242-53

Hahn SH, Minnich SJ, O'Brien JF
Stabilization of hypoglycosylation in a patient with congenital disorder of glycosylation type Ia.
Journal of inherited metabolic disease , 2006 Feb: 29(1)235-7

Yu C, Scott CR
Human biochemical genetics: an insight into inborn errors of metabolism.
Journal of Zhejiang University. Science. B , 2006 Feb: 165-6

Vajsar J, Zhang W, Dobyns WB, Biggar D, Holden KR, Hawkins C, Ray P, Olney AH, Burson CM, Srivastava AK, Schachter H
Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts.
Neuromuscular disorders : NMD , 2006 Feb: 132-6

Cunningham ML, Seto ML, Hing AV, Bull MJ, Hopkin RJ, Leppig KA
Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations.
Birth defects research. Part A, Clinical and molecular teratology , 2006 Feb: 78-85

Trobridge GD, Miller DG, Jacobs MA, Allen JM, Kiem HP, Kaul R, Russell DW
Foamy virus vector integration sites in normal human cells.
Proceedings of the National Academy of Sciences of the United States of America , 2006 Jan 31: 1498-503

Glass IA, Rauen KA, Chen E, Parkes J, Alberston DG, Pinkel D, Cotter PD
Ring chromosome 15: characterization by array CGH.
Human genetics , 2006 Jan: 118(5)611-7

Glass IA, Rauen KA, Chen E, Parkes J, Alberston DG, Pinkel D, Cotter PD
Ring chromosome 15: characterization by array CGH.
Human genetics , 2006 Jan: 611-7

Adam MP, Chueh J, El-Sayed YY, Stenzel A, Vogel H, Weaver DD, Hoyme HE
Vascular-type disruptive defects in fetuses with homozygous alpha-thalassemia: report of two cases and review of the literature.
Prenatal diagnosis , 2005 Dec: 25(12)1088-96

Wieck G, Leventer RJ, Squier WM, Jansen A, Andermann E, Dubeau F, Ramazzotti A, Guerrini R, Dobyns WB
Periventricular nodular heterotopia with overlying polymicrogyria.
Brain : a journal of neurology , 2005 Dec: 2811-21

Barry S, Brzezinski M, Yanay O, Seppen JE, Osborne WR
Sustained elevation of neutrophils in rats induced by lentivirus-mediated G-CSF delivery.
The journal of gene medicine , 2005 Dec: 7(12)1510-6

Ian A. Glass, MB ChB, MD
Joubert syndrome: a paradigm for prenatal diagnosis of specific hindbrain malformations by ultrasound and MRI
, Oct. 26, 2005 - Oct. 29, 2005

Kramer KA, Oglesbee D, Hartman SJ, Huey J, Anderson B, Magera MJ, Matern D, Rinaldo P, Robinson BH, Cameron JM, Hahn SH
Automated spectrophotometric analysis of mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblasts.
Clinical chemistry , 2005 Nov: 51(11)2110-6

Beutler E, Gelbart T, Scott CR
Hematologically important mutations: Gaucher disease.
Blood cells, molecules & diseases , 2005 Nov-Dec: 355-64

Piao X, Chang BS, Bodell A, Woods K, Benzeev B, Topcu M, Guerrini R, Goldberg-Stern H, Sztriha L, Dobyns WB, Barkovich AJ, Walsh CA
Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.
Annals of neurology , 2005 Nov: 680-7

Sze RW, Hopper RA, Ghioni V, Gruss JS, Ellenbogen RG, King D, Hing AV, Cunningham ML
MDCT diagnosis of the child with posterior plagiocephaly.
AJR. American journal of roentgenology , 2005 Nov: 1342-6

Perri RE, Hahn SH, Ferber MJ, Kamath PS
Wilson Disease--keeping the bar for diagnosis raised.
Hepatology (Baltimore, Md.) , 2005 Oct: 42(4)974

Forman MS, Squier W, Dobyns WB, Golden JA
Genotypically defined lissencephalies show distinct pathologies.
Journal of neuropathology and experimental neurology , 2005 Oct: 847-57

Miller DG, Trobridge GD, Petek LM, Jacobs MA, Kaul R, Russell DW
Large-scale analysis of adeno-associated virus vector integration sites in normal human cells.
Journal of virology , 2005 Sep: 11434-42

Adam MP, Hennekam RC, Keppen LD, Bull MJ, Clericuzio CL, Burke LW, Ormond KE, Hoyme EH
Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities.
American journal of medical genetics. Part A , 2005 Aug 30: 137(2)117-24

Pagon RA
Genetic testing: when to test, when to refer.
American family physician , 2005 Jul 1: 33-4

Gilbert SL, Dobyns WB, Lahn BT
Genetic links between brain development and brain evolution.
Nature reviews. Genetics , 2005 Jul: 581-90

Ackerman KG, Herron BJ, Vargas SO, Huang H, Tevosian SG, Kochilas L, Rao C, Pober BR, Babiuk RP, Epstein JA, Greer JJ, Beier DR
Fog2 is required for normal diaphragm and lung development in mice and humans.
PLoS genetics , 2005 Jul: 1(1)58-65

Doherty D, Glass IA, Siebert JR, Strouse PJ, Parisi MA, Shaw DW, Chance PF, Barr M Jr, Nyberg D
Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.
Prenatal diagnosis , 2005 Jun: 25(6)442-7

Doherty D, Glass IA, Siebert JR, Strouse PJ, Parisi MA, Shaw DW, Chance PF, Barr M Jr, Nyberg D
Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.
Prenatal diagnosis , 2005 Jun: 442-7

Shriver MD, Mei R, Parra EJ, Sonpar V, Halder I, Tishkoff SA, Schurr TG, Zhadanov SI, Osipova LP, Brutsaert TD, Friedlaender J, Jorde LB, Watkins WS, Bamshad MJ, Gutierrez G, Loi H, Matsuzaki H, Kittles RA, Argyropoulos G, Fernandez JR, Akey JM, Jones KW
Large-scale SNP analysis reveals clustered and continuous patterns of human genetic variation.
Human genomics , 2005 Jun: 81-9

Beck AE, Hudgins L, Hoyme HE
Autosomal dominant microtia and ocular coloboma: new syndrome or an extension of the oculo-auriculo-vertebral spectrum?
American journal of medical genetics. Part A , 2005 May 1: 359-62

Ensenauer R, Winters JL, Parton PA, Kronn DF, Kim JW, Matern D, Rinaldo P, Hahn SH
Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification.
Genetics in medicine : official journal of the American College of Medical Genetics , 2005 May-Jun: 7(5)339-43

Wang D, Eadala B, Sadilek M, Chamoles NA, Turecek F, Scott CR, Gelb MH
Tandem mass spectrometric analysis of dried blood spots for screening of mucopolysaccharidosis I in newborns.
Clinical chemistry , 2005 May: 898-900

Yoon HR, Lee KR, Kang S, Lee DH, Yoo HW, Min WK, Cho DH, Shin SM, Kim J, Song J, Yoon HJ, Seo S, Hahn SH
Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report.
Clinica chimica acta; international journal of clinical chemistry , 2005 Apr: 354(1-2)167-80

Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RC, Holmes LB, Hoyme HE, Leppig KA, Lin AE, Macleod P, Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM, Brueton L, Black GC, Biesecker LG
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.
American journal of human genetics , 2005 Apr: 609-22

Kato M, Dobyns WB
X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy".
Journal of child neurology , 2005 Apr: 392-7

Ackerman KG, Huang H, Grasemann H, Puma C, Singer JB, Hill AE, Lander E, Nadeau JH, Churchill GA, Drazen JM, Beier DR
Interacting genetic loci cause airway hyperresponsiveness.
Physiological genomics , 2005 Mar 21: 21(1)105-11

Gonzalez E, Kulkarni H, Bolivar H, Mangano A, Sanchez R, Catano G, Nibbs RJ, Freedman BI, Quinones MP, Bamshad MJ, Murthy KK, Rovin BH, Bradley W, Clark RA, Anderson SA, O'connell RJ, Agan BK, Ahuja SS, Bologna R, Sen L, Dolan MJ, Ahuja SK
The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility.
Science (New York, N.Y.) , 2005 Mar 4: 1434-40

Aligianis IA, Johnson CA, Gissen P, Chen D, Hampshire D, Hoffmann K, Maina EN, Morgan NV, Tee L, Morton J, Ainsworth JR, Horn D, Rosser E, Cole TR, Stolte-Dijkstra I, Fieggen K, Clayton-Smith J, Mégarbané A, Shield JP, Newbury-Ecob R, Dobyns WB, Graham JM Jr, Kjaer KW, Warburg M, Bond J, Trembath RC, Harris LW, Takai Y, Mundlos S, Tannahill D, Woods CG, Maher ER
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.
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

Currier SC, Lee CK, Chang BS, Bodell AL, Pai GS, Job L, Lagae LG, Al-Gazali LI, Eyaid WM, Enns G, Dobyns WB, Walsh CA
Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.
American journal of medical genetics. Part A , 2005 Feb 15: 53-7

Tortorelli S, Hahn SH, Cowan TM, Brewster TG, Rinaldo P, Matern D
The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I.
Molecular genetics and metabolism , 2005 Feb: 84(2)137-43

Kim JW, Hu JC, Lee JI, Moon SK, Kim YJ, Jang KT, Lee SH, Kim CC, Hahn SH, Simmer JP
Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II.
Human genetics , 2005 Feb: 116(3)186-91

Andersson HC, Charrow J, Kaplan P, Mistry P, Pastores GM, Prakash-Cheng A, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ
Individualization of long-term enzyme replacement therapy for Gaucher disease.
Genetics in medicine : official journal of the American College of Medical Genetics , 2005 Feb: 105-10

Wooding S, Stone AC, Dunn DM, Mummidi S, Jorde LB, Weiss RK, Ahuja S, Bamshad MJ
Contrasting effects of natural selection on human and chimpanzee CC chemokine receptor 5.
American journal of human genetics , 2005 Feb: 291-301

Chizhikov VV, Millen KJ
Roof plate-dependent patterning of the vertebrate dorsal central nervous system.
Developmental biology , 2005 Jan 15: 287-95

Elstein D, Scott CR, Zeigler M, Abrahamov A, Zimran A
Phenotypic heterogeneity in patients with Gaucher disease and the N370S/V394L genotype.
Genetic testing , 2005 Spring: 26-9

Doherty D
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

Ensenauer R, Vockley J, Willard JM, Huey JC, Sass JO, Edland SD, Burton BK, Berry SA, Santer R, Grünert S, Koch HG, Marquardt I, Rinaldo P, Hahn S, Matern D
A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.
American journal of human genetics , 2004 Dec: 75(6)1136-42

Prahalad S, O'brien E, Fraser AM, Kerber RA, Mineau GP, Pratt D, Donaldson D, Bamshad MJ, Bohnsack J
Familial aggregation of juvenile idiopathic arthritis.
Arthritis and rheumatism , 2004 Dec: 4022-7

Ian A. Glass, MB ChB, MD
COACH syndrome: description of 3 new cases and proposed minimal diagnostic criteria
, Oct. 26, 2004 - Oct. 30, 2004

Li Y, Scott CR, Chamoles NA, Ghavami A, Pinto BM, Turecek F, Gelb MH
Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening.
Clinical chemistry , 2004 Oct: 1785-96

Weinreb NJ, Aggio MC, Andersson HC, Andria G, Charrow J, Clarke JT, Erikson A, Giraldo P, Goldblatt J, Hollak C, Ida H, Kaplan P, Kolodny EH, Mistry P, Pastores GM, Pires R, Prakash-Cheng A, Rosenbloom BE, Scott CR, Sobreira E, Tylki-Szymańska A, Vellodi A, vom Dahl S, Wappner RS, Zimran A
Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients.
Seminars in hematology , 2004 Oct: 15-22

Grinberg I, Northrup H, Ardinger H, Prasad C, Dobyns WB, Millen KJ
Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation.
Nature genetics , 2004 Oct: 1053-5

Chizhikov VV, Millen KJ
Mechanisms of roof plate formation in the vertebrate CNS.
Nature reviews. Neuroscience , 2004 Oct: 808-12

Ian A. Glass, MB ChB, MD
COACH syndrome: description of 3 new cases and proposed minimal diagnostic criteria for this cerebello-oculo-renal disorder
, Aug. 18, 2004 - Aug. 21, 2004

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 Sep 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 Sep 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 Sep 1: 129A(3)235-47

Dobyns WB, Filauro A, Tomson BN, Chan AS, Ho AW, Ting NT, Oosterwijk JC, Ober C
Inheritance of most X-linked traits is not dominant or recessive, just X-linked.
American journal of medical genetics. Part A , 2004 Aug 30: 136-43

Minutti CZ, Lacey JM, Magera MJ, Hahn SH, McCann M, Schulze A, Cheillan D, Dorche C, Chace DH, Lymp JF, Zimmerman D, Rinaldo P, Matern D
Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia.
The Journal of clinical endocrinology and metabolism , 2004 Aug: 89(8)3687-93

Kim JW, Nam SH, Jang KT, Lee SH, Kim CC, Hahn SH, Hu JC, Simmer JP
A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II.
Human genetics , 2004 Aug: 115(3)248-54

Minutti CZ, Lacey JM, Magera MJ, Hahn SH, McCann M, Schulze A, Cheillan D, Dorche C, Chace DH, Lymp JF, Zimmerman D, Rinaldo P, Matern D
Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia.
The Journal of clinical endocrinology and metabolism , 2004 Aug: 89(8)3687-93

Gregorevic P, Blankinship MJ, Allen JM, Crawford RW, Meuse L, Miller DG, Russell DW, Chamberlain JS
Systemic delivery of genes to striated muscles using adeno-associated viral vectors.
Nature medicine , 2004 Aug: 828-34

Hing AV, Syed N, Cunningham ML
Familial acromelic frontonasal dysostosis: autosomal dominant inheritance with reduced penetrance.
American journal of medical genetics. Part A , 2004 Aug 1: 374-82

Graham JM Jr, Hennekam R, Dobyns WB, Roeder E, Busch D
MICRO syndrome: an entity distinct from COFS syndrome.
American journal of medical genetics. Part A , 2004 Jul 30: 235-45

de Carvalho Aguiar P, Sweadner KJ, Penniston JT, Zaremba J, Liu L, Caton M, Linazasoro G, Borg M, Tijssen MA, Bressman SB, Dobyns WB, Brashear A, Ozelius LJ
Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.
Neuron , 2004 Jul 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 Jul: 75(1)82-91

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 Jul: 82-91

Miller DG, Petek LM, Russell DW
Adeno-associated virus vectors integrate at chromosome breakage sites.
Nature genetics , 2004 Jul: 767-73

Parisi MA, Bennett CL, Eckert ML, Dobyns WB, Gleeson JG, Shaw DW, McDonald R, Eddy A, Chance PF, Glass IA
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
American journal of human genetics , 2004 Jul: 82-91

Kamm C, Leung J, Joseph S, Dobyns WB, Brashear A, Breakefield XO, Ozelius LJ
Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene.
Movement disorders : official journal of the Movement Disorder Society , 2004 Jul: 845-7

Chizhikov VV, Millen KJ
Control of roof plate development and signaling by Lmx1b in the caudal vertebrate CNS.
The Journal of neuroscience : the official journal of the Society for Neuroscience , 2004 Jun 23: 5694-703

Ian A. Glass, MB ChB, MD
Genotype-phenotype correlation in congenital heart disease
Curr Opin Cardiol , May 2004: 19(3)221-7

McKinney JT, Longo N, Hahn SH, Matern D, Rinaldo P, Strauss AW, Dobrowolski SF
Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene.
Molecular genetics and metabolism , 2004 Jun: 82(2)112-20

Tonkin ET, Wang TJ, Lisgo S, Bamshad MJ, Strachan T
NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome.
Nature genetics , 2004 Jun: 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 Jun: 631-5

Chizhikov VV, Millen KJ
Control of roof plate formation by Lmx1a in the developing spinal cord.
Development (Cambridge, England) , 2004 Jun: 2693-705

Lewin MB, Glass IA, Power P
Genotype-phenotype correlation in congenital heart disease.
Current opinion in cardiology , 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

Pagon RA
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

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

Stephanie E. Wallace, MD
Progressive Diaphyseal Dysplasia (Camurati-Engelmann Disease): Report of a Four-Generation Pedigree, Review of the Literature, and Identification of a Mutation in TGFB1
, 2004

Stephanie E. Wallace, MD
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

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

Ian A. Glass, MB ChB, MD
The spectrum of conditions with the molar tooth sign: more than just Joubert syndrome
, Nov. 4, 2003 - Nov. 8, 2003

Ian A. Glass, MB ChB, MD
Ring 15 syndrome: Clinical cytogenetic and comparative genomic hybridization-array characterization of two discordant de novo cases
, Nov. 4, 2003 - Nov. 8, 2003

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: 123A(1)72-8

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

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 Sep 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 Sep-Oct: 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 Sep-Oct: 36-53

Chizhikov V, Millen KJ
Development and malformations of the cerebellum in mice.
Molecular genetics and metabolism , 2003 Sep-Oct: 54-65

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 Jul 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 Jul 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 Jul 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 Jul 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 Jul: 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 Jul: 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 Jul: 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 Jul: 30-7

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 Jul: 527-34

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 Jun 15: 1439-47

Ian A. Glass, MB ChB, MD
The Joubert syndrome (autosomal recessive cerebellar vermis hypoplasia with brainstem malformations): A Multiplex linkage approach to disease mapping and exclusion of the ZlC1 gene
, May 6, 2003

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

Liu S, Lu W, Obara T, Kuida S, Lehoczky J, Dewar K, Drummond IA, Beier DR
A defect in a novel Nek-family kinase causes cystic kidney disease in the mouse and in zebrafish.
Development (Cambridge, England) , 2002 Dec: 129(24)5839-46

Ian A. Glass, MB ChB, MD
Multiple fetal anomalies associated with subtle subtelomeric chromosome rearrangements
, Oct. 15, 2002 - Oct. 19, 2002

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

Dobyns WB
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

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 Sep 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 Sep-Oct: 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 Jul 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 Jun: 76(2)133-6

Pagon RA
Genetic testing for disease susceptibilities: consequences for genetic counseling.
Trends in molecular medicine , 2002 Jun: 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

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

Herron BJ, Lu W, Rao C, Liu S, Peters H, Bronson RT, Justice MJ, McDonald JD, Beier DR
Efficient generation and mapping of recessive developmental mutations using ENU mutagenesis.
Nature genetics , 2002 Feb: 30(2)185-9

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

Ian A. Glass, MB ChB, MD
Clinical and molecular heterogeneity for Madelung deformity of childhood
, Oct. 12, 2001 - Oct. 16, 2001

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

Stephanie E. Wallace, MD
Progressive Diaphyseal Dysplasia (Camurati-Engelmann Disease): Report of a 6 Generation Pedigree with Remarkable Variation in Expressivity and a Review of the Literature
, 2001

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

Ian A. Glass, MB ChB, MD
Leri Weill dyschondrosteosis caused by SHOX splicing mutation
, Oct. 3, 2000 - Oct. 7, 2000

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 Jun: 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

Stephanie E. Wallace, MD
Update on Camurati-Engelmann Disease
, 2000

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

Stephanie E. Wallace, MD
Clinical Features of Camurati-Engelmann Disease
, 1999

Ian A. Glass, MB ChB, MD
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

Stephanie E. Wallace, MD
Camurati-Engelmann Disease
GeneReviews at GeneTests: Medical Genetics Information Resource [database online] Available at http://www.genetests.org , 1997 - 2010

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

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

Stephanie E. Wallace, MD
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 Jun: 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

Adam MP, Bean LJH, Miller VR, Pagon RA, Bird TD, Dolan CR, Stephens K
Mowat-Wilson Syndrome
, 1993

Adam MP, Hudgins L, Hannibal M, Pagon RA, Bird TD, Dolan CR, Stephens K
Kabuki Syndrome
, 1993

Munns C, Glass I, Pagon RA, Bird TD, Dolan CR, Stephens K
SHOX-Related Haploinsufficiency Disorders
, 1993

Parisi M, Glass I, Pagon RA, Bird TD, Dolan CR, Stephens K
Joubert Syndrome
, 1993

Wallace SE, Wilcox WR, Pagon RA, Bird TD, Dolan CR, Stephens K
Camurati-Engelmann Disease
, 1993

Ian A. Glass, MB ChB, MD
Application of DNA probes in Fragile X syndrome
Application of molecular genetics to the diagnosis of inherited disease , 1990

Ian A. Glass, MB ChB, MD
AHl1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome
,

Stephanie E. Wallace, MD
Identification of a recurrent microdeletion of 3q13.2q13.31 associated with hypotonia and developmental delay
,

Angela Sun, MD
Cystic Diseases of the Kidney
Principles and Practice of Medical Genetics ,

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