Profile

William B. Dobyns, MD

William B. Dobyns, MD

Genetics

On staff since August 2010

Research Center: Center for Integrative Brain Research

"The driving force in my work is to find something new under the sun and figure out what it is, why the child has it and what can be done. I don’t like routine. In this work, I get to think about a different uncommon problem every day and talk about it with other experts interested in the same issues."

William B. Dobyns, MD, has made major contributions to the field of human genetics, particularly the nature and genetic causes of developmental disorders including mental retardation, autism and brain malformations. As both a medical geneticist and pediatric neurologist, Dr. Dobyns offers a rare combination of expertise. He examines patients with all types of genetic diseases, emphasizing children with complex developmental problems.

 He also offers genetic counseling for families of these children.  Dr. Dobyns is a recognized expert on many complex developmental disorders of the brain including mental retardation, autism, birth defects of the cerebellum such as Dandy-Walker malformation, and birth defects of the cerebral hemispheres such as microcephaly and megalencephaly (small and large brain size), lissencephaly or "smooth brain" disorder, and polymicrogyria (pebbled brain surface). He has made significant contributions to the understanding, classification and genetic cause of many different developmental disorders.

Making A Difference

  • Significant Recruits of 2010

    2010 was a banner year for recruiting at Seattle Children’s Research Institute as several nationally recognized researchers chose to continue their life’s work in Seattle. ... cont.

  • Clues to Brain Growth Found

    The discovery of mutations in genes that help regulate brain growth could lead to better treatments for brain disorders and other conditions, including cancer, autism and epilepsy. ... cont.

Recommendations

  • Carlos Mexico City, Mexico 02.26.11

    Dr. Dobyns, after having the luck of finding him, through his guidance based in his knowledge and after a series of decissions, changed literally the quality of life of a human being and his entire family. But the most rare combination of all is, his wisdom and human care. In a scale from 1 to 10 my recommendation would be 11...!

Overview

Board Certification(s)

Medical Biochemical Genetics
Psychiatry

Medical/Professional School

Mayo Medical School, Rochester

Residency

Pediatrics, Gundersen Medical Foundation - La Crosse Lutheran, La Crosse

Fellowship

Neurology, Baylor College of Medicine, Houston
Medical Biochemical Genetics, Mayo Graduate School of Medicine - Mayo Foundation, Rochester

Research Description

William Dobyns, MD, has made major contributions to the field of human genetics, particularly the nature and genetic causes of developmental disorders including mental retardation, autism and brain malformations.

As both a medical geneticist and pediatric neurologist, Dr. Dobyns offers a rare combination of expertise. He examines patients with all types of genetic diseases, emphasizing children with complex developmental problems. He also offers genetic counseling for families of these children.

Dr. Dobyns is a recognized expert on many complex developmental disorders of the brain including mental retardation, autism, birth defects of the cerebellum such as Dandy-Walker malformation, and birth defects of the cerebral hemispheres such as microcephaly and megalencephaly (small and large brain size), lissencephaly or "smooth brain" disorder, and polymicrogyria (pebbled brain surface).

He has made significant contributions to the understanding, classification and genetic cause of many different developmental disorders.

Research Focus Area

Genetics and Developmental Biology, Developmental Cognitive Neuroscience, Neuroscience / Neurodevelopment

Publications

  • 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
  • O'Driscoll MC, Daly SB, Urquhart JE, Black GC, Pilz DT, Brockmann K, McEntagart M, Abdel-Salam G, Zaki M, Wolf NI, Ladda RL, Sell S, D'Arrigo S, Squier W, Dobyns WB, Livingston JH, Crow YJ
    Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.
    American journal of human genetics , 2010 Sept. 10 : 354-64
  • O'Driscoll MC, Black GC, Clayton-Smith J, Sherr EH, Dobyns WB
    Identification of genomic loci contributing to agenesis of the corpus callosum.
    American journal of medical genetics. Part A , 2010 Sept. : 2145-59
  • Graham JM Jr, Spencer AH, Grinberg I, Niesen CE, Platt LD, Maya M, Namavar Y, Baas F, Dobyns WB
    Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible?
    American journal of medical genetics. Part A , 2010 Sept. : 2268-76
  • Rankin J, Brown R, Dobyns WB, Harington J, Patel J, Quinn M, Brown G
    Pontocerebellar hypoplasia type 6: A British case with PEHO-like features.
    American journal of medical genetics. Part A , 2010 Aug. : 2079-84
  • Cantagrel V, Lefeber DJ, Ng BG, Guan Z, Silhavy JL, Bielas SL, Lehle L, Hombauer H, Adamowicz M, Swiezewska E, De Brouwer AP, Blümel P, Sykut-Cegielska J, Houliston S, Swistun D, Ali BR, Dobyns WB, Babovic-Vuksanovic D, van Bokhoven H, Wevers RA, Raetz CR, Freeze HH, Morava E, Al-Gazali L, Gleeson JG
    SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
    Cell , 2010 July 23 : 203-17
  • Kumar RA, Pilz DT, Babatz TD, Cushion TD, Harvey K, Topf M, Yates L, Robb S, Uyanik G, Mancini GM, Rees MI, Harvey RJ, Dobyns WB
    TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.
    Human molecular genetics , 2010 July 15 : 2817-27
  • O'Driscoll MC, Jenny K, Saitta S, Dobyns WB, Gripp KW
    Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?
    American journal of medical genetics. Part A , 2010 July : 1621-6
  • Basel-Vanagaite L, Dobyns WB
    Clinical and brain imaging heterogeneity of severe microcephaly.
    Pediatric neurology , 2010 July : 7-16
  • Carr CW, Moreno-De-Luca D, Parker C, Zimmerman HH, Ledbetter N, Martin CL, Dobyns WB, Abdul-Rahman OA
    Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency.
    European journal of human genetics : EJHG , 2010 June 23
  • Mineyko A, Doja A, Hurteau J, Dobyns WB, Das S, Boycott KM
    A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism.
    Journal of child neurology , 2010 June : 738-41
  • Verkerk AJ, Schot R, van Waterschoot L, Douben H, Poddighe PJ, Lequin MH, de Vries LS, Terhal P, Hahnemann JM, de Coo IF, de Wit MC, Wafelman LS, Garavelli L, Dobyns WB, Van der Spek PJ, de Klein A, Mancini GM
    Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus.
    American journal of medical genetics. Part A , 2010 June : 1488-97
  • 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
  • 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
  • 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
  • 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
  • Aldinger KA, Lehmann OJ, Hudgins L, Chizhikov VV, Bassuk AG, Ades LC, Krantz ID, Dobyns WB, Millen KJ
    FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.
    Nature genetics , 2009 Sept. : 1037-42
  • Haverfield EV, Whited AJ, Petras KS, Dobyns WB, Das S
    Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia.
    European journal of human genetics : EJHG , 2009 July : 911-8
  • 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
  • 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
  • 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
  • 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
  • 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
  • Najm J, Horn D, Wimplinger I, Golden JA, Chizhikov VV, Sudi J, Christian SL, Ullmann R, Kuechler A, Haas CA, Flubacher A, Charnas LR, Uyanik G, Frank U, Klopocki E, Dobyns WB, Kutsche K
    Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
    Nature genetics , 2008 Sept. : 1065-7
  • Najm J, Horn D, Wimplinger I, Golden JA, Chizhikov VV, Sudi J, Christian SL, Ullmann R, Kuechler A, Haas CA, Flubacher A, Charnas LR, Uyanik G, Frank U, Klopocki E, Dobyns WB, Kutsche K
    Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
    Nature genetics , 2008 Aug. 10
  • 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
  • Dobyns WB, Mirzaa G, Christian SL, Petras K, Roseberry J, Clark GD, Curry CJ, McDonald-McGinn D, Medne L, Zackai E, Parsons J, Zand DJ, Hisama FM, Walsh CA, Leventer RJ, Martin CL, Gajecka M, Shaffer LG
    Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
    American journal of medical genetics. Part A , 2008 July 1 : 1637-54
  • Christian SL, Brune CW, Sudi J, Kumar RA, Liu S, Karamohamed S, Badner JA, Matsui S, Conroy J, McQuaid D, Gergel J, Hatchwell E, Gilliam TC, Gershon ES, Nowak NJ, Dobyns WB, Cook EH Jr
    Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
    Biological psychiatry , 2008 June 15 : 1111-7
  • 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
  • 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
  • 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
  • Kumar RA, KaraMohamed S, Sudi J, Conrad DF, Brune C, Badner JA, Gilliam TC, Nowak NJ, Cook EH Jr, Dobyns WB, Christian SL
    Recurrent 16p11.2 microdeletions in autism.
    Human molecular genetics , 2008 Feb. 15 : 628-38
  • Kornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B, Rajab A, Budde B, Nürnberg P, Foulquier F, Lefeber D, Urban Z, Gruenewald S, Annaert W, Brunner HG, van Bokhoven H, Wevers R, Morava E, Matthijs G, Van Maldergem L, Mundlos S
    Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
    Nature genetics , 2008 Jan. : 32-4
  • Leventer RJ, Guerrini R, Dobyns WB
    Malformations of cortical development and epilepsy.
    Dialogues in clinical neuroscience , 2008 : 47-62
  • Conway RL, Pressman BD, Dobyns WB, Danielpour M, Lee J, Sanchez-Lara PA, Butler MG, Zackai E, Campbell L, Saitta SC, Clericuzio CL, Milunsky JM, Hoyme HE, Shieh J, Moeschler JB, Crandall B, Lauzon JL, Viskochil DH, Harding B, Graham JM Jr
    Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.
    American journal of medical genetics. Part A , 2007 Dec. 15 : 2981-3008
  • Moog U, Jones MC, Viskochil DH, Verloes A, Van Allen MI, Dobyns WB
    Brain anomalies in encephalocraniocutaneous lipomatosis.
    American journal of medical genetics. Part A , 2007 Dec. 15 : 2963-72
  • Barkovich AJ, Millen KJ, Dobyns WB
    A developmental classification of malformations of the brainstem.
    Annals of neurology , 2007 Dec. : 625-39
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • Forman MS, Squier W, Dobyns WB, Golden JA
    Genotypically defined lissencephalies show distinct pathologies.
    Journal of neuropathology and experimental neurology , 2005 Oct. : 847-57
  • Gilbert SL, Dobyns WB, Lahn BT
    Genetic links between brain development and brain evolution.
    Nature reviews. Genetics , 2005 July : 581-90
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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 July 30 : 235-45
  • de Carvalho Aguiar P, Sweadner KJ, Penniston JT, Zaremba J, Liu L, Caton M, Linazasoro G, Borg M, Tijssen MA, Bressman SB, Dobyns WB, Brashear A, Ozelius LJ
    Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.
    Neuron , 2004 July 22 : 169-75
  • Parisi MA, Bennett CL, Eckert ML, Dobyns WB, Gleeson JG, Shaw DW, McDonald R, Eddy A, Chance PF, Glass IA
    The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
    American journal of human genetics , 2004 July : 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 July : 845-7
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • Parisi MA, Dobyns WB
    Human malformations of the midbrain and hindbrain: review and proposed classification scheme.
    Molecular genetics and metabolism , 2003 Sept. : 36-53
  • Ramocki MB, Dowling J, Grinberg I, Kimonis VE, Cardoso C, Gross A, Chung J, Martin CL, Ledbetter DH, Dobyns WB, Millen KJ
    Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32.
    European journal of human genetics : EJHG , 2003 July : 527-34
  • Guerrini R, Moro F, Andermann E, Hughes E, D'Agostino D, Carrozzo R, Bernasconi A, Flinter F, Parmeggiani L, Volzone A, Parrini E, Mei D, Jarosz JM, Morris RG, Pratt P, Tortorella G, Dubeau F, Andermann F, Dobyns WB, Das S
    Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations.
    Annals of neurology , 2003 July : 30-7
  • 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
  • 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
  • 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
  • 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
  • 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

Research Funding

Grant Title Grantor Amount Award Date
Genomic imbalances in autism Autism Speaks $99,000.00 Oct. 1, 2008
De novo copy number variation and gene discovery in … brain malformations NIH $3,398,407.00 March 1, 2008
J.P. Kennedy Mental Retardation and Developmental Disabilities Center NIH Sept. 15, 2006
The genetic basis of mid-hindbrain malformations NIH Sept. 15, 2005
Molecular characterization of Joubert syndrome NIH April 1, 2004
Human epilepsy genetics neuronal migration disorders NIH July 1, 2002