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.

    • 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...!

    • Bennett JT, Tan TY, Alcantara D, Tétrault M, Timms AE, Jensen D, Collins S, Nowaczyk MJ, Lindhurst MJ, Christensen KM, Braddock SR, Brandling-Bennett H, Hennekam RC, Chung B, Lehman A, Su J, Ng S, Amor DJ, University of Washington Center for Mendelian Genomics, Care4Rare Canada Consortium, Majewski J, Biesecker LG, Boycott KM, Dobyns WB, O'Driscoll M, Moog U, McDonell LM
      Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.
      26942290 American journal of human genetics , 2016 Mar. 3 - 2016 Mar. 3 : 98(3)579-87
    • Huang L, Vanstone MR, Hartley T, Osmond M, Barrowman N, Allanson J, Baker L, Dabir TA, Dipple KM, Dobyns WB, Estrella J, Faghfoury H, Favaro FP, Goel H, Gregersen PA, Gripp KW, Grix A, Guion-Almeida ML, Harr MH, Hudson C, Hunter AG, Johnson J, Joss SK, Kimball A, Kini U, Kline AD, Lauzon J, Lildballe DL, López-González V, Martinezmoles J, Meldrum C, Mirzaa GM, Morel CF, Morton JE, Pyle LC, Quintero-Rivera F, Richer J, Scheuerle AE, Schönewolf-Greulich B, Shears DJ, Silver J, Smith AC, Temple IK, UCLA Clinical Genomics Center, van de Kamp JM, van Dijk FS, Vandersteen AM, White SM, Zackai EH, Zou R, Consortium CC, Bulman DE, Boycott KM, Lines MA
      Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
      26507355 Human mutation , 2016 Feb. - 2016 Feb. : 37(2)148-154
    • Berg AT, Dobyns WB
      Progress in autism and related disorders of brain development.
      25891008 The Lancet. Neurology , 2015 Nov. - 2015 Nov. : 14(11)1069-70
    • French CR, Seshadri S, Destefano AL, Fornage M, Arnold CR, Gage PJ, Skarie JM, Dobyns WB, Millen KJ, Liu T, Dietz W, Kume T, Hofker M, Emery DJ, Childs SJ, Waskiewicz AJ, Lehmann OJ
      Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease.
      25250569 The Journal of clinical investigation , 2014 Nov. - 2014 Nov. : 124(11)4877-81 PMCID: PMC4347243
    • Cushion TD, Paciorkowski AR, Pilz DT, Mullins JG, Seltzer LE, Marion RW, Tuttle E, Ghoneim D, Christian SL, Chung SK, Rees MI, Dobyns WB
      De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy.
      24702957 American journal of human genetics , 2014 Apr, 3 - 2014 Apr, 3 : 94(4)634-41 PMCID: PMC3980418
    • Gripp KW, Zand DJ, Demmer L, Anderson CE, Dobyns WB, Zackai EH, Denenberg E, Jenny K, Stabley DL, Sol-Church K
      Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.
      23918763 American journal of medical genetics. Part A , 2013 Oct. - 2013 Oct. : 161A(10)2420-30 PMCID: PMC3787995
    • Mirzaa GM, Paciorkowski AR, Marsh ED, Berry-Kravis EM, Medne L, Alkhateeb A, Grix A, Wirrell EC, Powell BR, Nickels KC, Burton B, Paras A, Kim K, Chung W, Dobyns WB, Das S
      CDKL5 and ARX mutations in males with early-onset epilepsy.
      23583054 Pediatric neurology , 2013 May - 2013 May : 48(5)367-77 PMCID: PMC3742321
    • Bisschoff IJ, Zeschnigk C, Horn D, Wellek B, Rieß A, Wessels M, Willems P, Jensen P, Busche A, Bekkebraten J, Chopra M, Hove HD, Evers C, Heimdal K, Kaiser AS, Kunstmann E, Robinson KL, Linné M, Martin P, McGrath J, Pradel W, Prescott KE, Roesler B, Rudolf G, Siebers-Renelt U, Tyshchenko N, Wieczorek D, Wolff G, Dobyns WB, Morris-Rosendahl DJ
      Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.
      23033313 Human mutation , 2013 Jan. - 2013 Jan. : 34(1)237-47
    • Ishak GE, Dempsey JC, Shaw DW, Tully H, Adam MP, Sanchez-Lara PA, Glass I, Rue TC, Millen KJ, Dobyns WB, Doherty D
      Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity.
      22451504 Brain : a journal of neurology , 2012 May - 2012 May : 135(Pt 5)1370-86 PMCID: PMC3338925
    • Osbun N, Li J, O'Driscoll MC, Strominger Z, Wakahiro M, Rider E, Bukshpun P, Boland E, Spurrell CH, Schackwitz W, Pennacchio LA, Dobyns WB, Black GC, Sherr EH
      Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene.
      21739582 American journal of medical genetics. Part A , 2011 Aug. - 2011 Aug. : 155A(8)1865-76
    • Conti V, Marini C, Gana S, Sudi J, Dobyns WB, Guerrini R
      Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX.
      21416597 American journal of medical genetics. Part A , 2011 Apr, - 2011 Apr, : 155A(4)892-7
    • Yu TW, Mochida GH, Tischfield DJ, Sgaier SK, Flores-Sarnat L, Sergi CM, Topçu M, McDonald MT, Barry BJ, Felie JM, Sunu C, Dobyns WB, Folkerth RD, Barkovich AJ, Walsh CA
      Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.
      20890278 Nature genetics , 2010 Oct. 3
    • Nicholas AK, Khurshid M, Désir J, Carvalho OP, Cox JJ, Thornton G, Kausar R, Ansar M, Ahmad W, Verloes A, Passemard S, Misson JP, Lindsay S, Gergely F, Dobyns WB, Roberts E, Abramowicz M, Woods CG
      WDR62 is associated with the spindle pole and is mutated in human microcephaly.
      20890279 Nature genetics , 2010 Oct. 3
    • O'Driscoll MC, Daly SB, Urquhart JE, Black GC, Pilz DT, Brockmann K, McEntagart M, Abdel-Salam G, Zaki M, Wolf NI, Ladda RL, Sell S, D'Arrigo S, Squier W, Dobyns WB, Livingston JH, Crow YJ
      Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.
      20727516 American journal of human genetics , 2010 Sept. 10 : 354-64
    • O'Driscoll MC, Daly SB, Urquhart JE, Black GC, Pilz DT, Brockmann K, McEntagart M, Abdel-Salam G, Zaki M, Wolf NI, Ladda RL, Sell S, D'Arrigo S, Squier W, Dobyns WB, Livingston JH, Crow YJ
      Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.
      20727516 American journal of human genetics , 2010 Sept. 10 - 2010 Sept. 10 : 87(3)354-64 PMCID: PMC2933344
    • O'Driscoll MC, Black GC, Clayton-Smith J, Sherr EH, Dobyns WB
      Identification of genomic loci contributing to agenesis of the corpus callosum.
      20683985 American journal of medical genetics. Part A , 2010 Sept. : 2145-59
    • Graham JM Jr, Spencer AH, Grinberg I, Niesen CE, Platt LD, Maya M, Namavar Y, Baas F, Dobyns WB
      Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible?
      20803644 American journal of medical genetics. Part A , 2010 Sept. : 2268-76
    • Rankin J, Brown R, Dobyns WB, Harington J, Patel J, Quinn M, Brown G
      Pontocerebellar hypoplasia type 6: A British case with PEHO-like features.
      20635367 American journal of medical genetics. Part A , 2010 Aug. : 2079-84
    • Cantagrel V, Lefeber DJ, Ng BG, Guan Z, Silhavy JL, Bielas SL, Lehle L, Hombauer H, Adamowicz M, Swiezewska E, De Brouwer AP, Blümel P, Sykut-Cegielska J, Houliston S, Swistun D, Ali BR, Dobyns WB, Babovic-Vuksanovic D, van Bokhoven H, Wevers RA, Raetz CR, Freeze HH, Morava E, Al-Gazali L, Gleeson JG
      SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
      20637498 Cell , 2010 July 23 : 203-17
    • Kumar RA, Pilz DT, Babatz TD, Cushion TD, Harvey K, Topf M, Yates L, Robb S, Uyanik G, Mancini GM, Rees MI, Harvey RJ, Dobyns WB
      TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.
      20466733 Human molecular genetics , 2010 July 15 : 2817-27
    • Kumar RA, Pilz DT, Babatz TD, Cushion TD, Harvey K, Topf M, Yates L, Robb S, Uyanik G, Mancini GM, Rees MI, Harvey RJ, Dobyns WB
      TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.
      20466733 Human molecular genetics , 2010 July 15 - 2010 July 15 : 19(14)2817-27 PMCID: PMC2893812
    • O'Driscoll MC, Jenny K, Saitta S, Dobyns WB, Gripp KW
      Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?
      20583147 American journal of medical genetics. Part A , 2010 July : 1621-6
    • Basel-Vanagaite L, Dobyns WB
      Clinical and brain imaging heterogeneity of severe microcephaly.
      20682196 Pediatric neurology , 2010 July : 7-16
    • Carr CW, Moreno-De-Luca D, Parker C, Zimmerman HH, Ledbetter N, Martin CL, Dobyns WB, Abdul-Rahman OA
      Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency.
      20571508 European journal of human genetics : EJHG , 2010 June 23
    • Mineyko A, Doja A, Hurteau J, Dobyns WB, Das S, Boycott KM
      A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism.
      19808989 Journal of child neurology , 2010 June : 738-41
    • Verkerk AJ, Schot R, van Waterschoot L, Douben H, Poddighe PJ, Lequin MH, de Vries LS, Terhal P, Hahnemann JM, de Coo IF, de Wit MC, Wafelman LS, Garavelli L, Dobyns WB, Van der Spek PJ, de Klein A, Mancini GM
      Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus.
      20503325 American journal of medical genetics. Part A , 2010 June : 1488-97
    • Leventer RJ, Jansen A, Pilz DT, Stoodley N, Marini C, Dubeau F, Malone J, Mitchell LA, Mandelstam S, Scheffer IE, Berkovic SF, Andermann F, Andermann E, Guerrini R, Dobyns WB
      Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients.
      20403963 Brain : a journal of neurology , 2010 May : 1415-27
    • Pavone P, Ruggieri M, Lombardo I, Sudi J, Biancheri R, Castellano-Chiodo D, Rossi A, Incorpora G, Nowak NJ, Christian SL, Pavone L, Dobyns WB
      Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q.
      19838731 European journal of pediatrics , 2010 Apr, : 475-81
    • Pavone P, Ruggieri M, Lombardo I, Sudi J, Biancheri R, Castellano-Chiodo D, Rossi A, Incorpora G, Nowak NJ, Christian SL, Pavone L, Dobyns WB
      Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q.
      19838731 European journal of pediatrics , 2010 Apr, - 2010 Apr, : 169(4)475-81 PMCID: PMC2820683
    • Kumar RA, Sudi J, Babatz TD, Brune CW, Oswald D, Yen M, Nowak NJ, Cook EH, Christian SL, Dobyns WB
      A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism.
      19546099 Journal of medical genetics , 2010 Feb. : 81-90
    • Dobyns WB
      The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia.
      20331703 Epilepsia , 2010 Feb. : 5-9
    • Barkovich AJ, Millen KJ, Dobyns WB
      A developmental and genetic classification for midbrain-hindbrain malformations.
      19933510 Brain : a journal of neurology , 2009 Dec. : 3199-230
    • Babatz TD, Kumar RA, Sudi J, Dobyns WB, Christian SL
      Copy number and sequence variants implicate APBA2 as an autism candidate gene.
      20029827 Autism research : official journal of the International Society for Autism Research , 2009 Dec. : 359-64
    • Haverfield EV, Whited AJ, Petras KS, Dobyns WB, Das S
      Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia.
      19050731 European journal of human genetics : EJHG , 2009 July : 911-8
    • Gripp KW, Hopkins E, Vinkler C, Lev D, Malinger G, Lerman-Sagie T, Dobyns WB
      Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes.
      19353582 American journal of medical genetics. Part A , 2009 May : 868-76
    • Solomon BD, Lacbawan F, Jain M, Domené S, Roessler E, Moore C, Dobyns WB, Muenke M
      A novel SIX3 mutation segregates with holoprosencephaly in a large family.
      19353631 American journal of medical genetics. Part A , 2009 May : 919-25
    • Rajab A, Aldinger KA, El-Shirbini HA, Dobyns WB, Ross ME
      Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.
      19161147 American journal of medical genetics. Part A , 2009 Feb. : 129-37
    • Kumar RA, Marshall CR, Badner JA, Babatz TD, Mukamel Z, Aldinger KA, Sudi J, Brune CW, Goh G, Karamohamed S, Sutcliffe JS, Cook EH, Geschwind DH, Dobyns WB, Scherer SW, Christian SL
      Association and mutation analyses of 16p11.2 autism candidate genes.
      19242545 PloS one , 2009 : e4582
    • Kumar RA, Marshall CR, Badner JA, Babatz TD, Mukamel Z, Aldinger KA, Sudi J, Brune CW, Goh G, Karamohamed S, Sutcliffe JS, Cook EH, Geschwind DH, Dobyns WB, Scherer SW, Christian SL
      Association and mutation analyses of 16p11.2 autism candidate genes.
      19242545 PloS one , 2009 - 2009 : 4(2)e4582 PMCID: PMC2644762
    • Chanda B, Asai-Coakwell M, Ye M, Mungall AJ, Barrow M, Dobyns WB, Behesti H, Sowden JC, Carter NP, Walter MA, Lehmann OJ
      A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation.
      18694899 Human molecular genetics , 2008 Nov. 15 : 3446-58
    • Manzini MC, Gleason D, Chang BS, Hill RS, Barry BJ, Partlow JN, Poduri A, Currier S, Galvin-Parton P, Shapiro LR, Schmidt K, Davis JG, Basel-Vanagaite L, Seidahmed MZ, Salih MA, Dobyns WB, Walsh CA
      Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
      18752264 Human mutation , 2008 Nov. : E231-41
    • Najm J, Horn D, Wimplinger I, Golden JA, Chizhikov VV, Sudi J, Christian SL, Ullmann R, Kuechler A, Haas CA, Flubacher A, Charnas LR, Uyanik G, Frank U, Klopocki E, Dobyns WB, Kutsche K
      Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
      19165920 Nature genetics , 2008 Sept. : 1065-7
    • Najm J, Horn D, Wimplinger I, Golden JA, Chizhikov VV, Sudi J, Christian SL, Ullmann R, Kuechler A, Haas CA, Flubacher A, Charnas LR, Uyanik G, Frank U, Klopocki E, Dobyns WB, Kutsche K
      Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
      18690219 Nature genetics , 2008 Aug. 10
    • Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L, Dallapiccola B, Gleeson JG, Valente EM
      RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
      18565097 Clinical genetics , 2008 Aug. : 164-70
    • Cantagrel V, Silhavy JL, Bielas SL, Swistun D, Marsh SE, Bertrand JY, Audollent S, Attié-Bitach T, Holden KR, Dobyns WB, Traver D, Al-Gazali L, Ali BR, Lindner TH, Caspary T, Otto EA, Hildebrandt F, Glass IA, Logan CV, Johnson CA, Bennett C, Brancati F, Valente EM, Woods CG, Gleeson JG
      Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
      18674751 American journal of human genetics , 2008 Aug. : 170-9
    • Dobyns WB, Mirzaa G, Christian SL, Petras K, Roseberry J, Clark GD, Curry CJ, McDonald-McGinn D, Medne L, Zackai E, Parsons J, Zand DJ, Hisama FM, Walsh CA, Leventer RJ, Martin CL, Gajecka M, Shaffer LG
      Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
      18536050 American journal of medical genetics. Part A , 2008 July 1 : 1637-54
    • Dobyns WB, Mirzaa G, Christian SL, Petras K, Roseberry J, Clark GD, Curry CJ, McDonald-McGinn D, Medne L, Zackai E, Parsons J, Zand DJ, Hisama FM, Walsh CA, Leventer RJ, Martin CL, Gajecka M, Shaffer LG
      Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
      18536050 American journal of medical genetics. Part A , 2008 July 1 - 2008 July 1 : 146A(13)1637-54 PMCID: PMC2801020
    • Christian SL, Brune CW, Sudi J, Kumar RA, Liu S, Karamohamed S, Badner JA, Matsui S, Conroy J, McQuaid D, Gergel J, Hatchwell E, Gilliam TC, Gershon ES, Nowak NJ, Dobyns WB, Cook EH Jr
      Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
      18374305 Biological psychiatry , 2008 June 15 : 1111-7
    • Merello E, Swanson E, De Marco P, Akhter M, Striano P, Rossi A, Cama A, Leventer RJ, Guerrini R, Capra V, Dobyns WB
      No major role for the EMX2 gene in schizencephaly.
      18409201 American journal of medical genetics. Part A , 2008 May 1 : 1142-50
    • Jalali A, Aldinger KA, Chary A, McLone DG, Bowman RM, Le LC, Jardine P, Newbury-Ecob R, Mallick A, Jafari N, Russell EJ, Curran J, Nguyen P, Ouahchi K, Lee C, Dobyns WB, Millen KJ, Pina-Neto JM, Kessler JA, Bassuk AG
      Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity.
      18204864 Human genetics , 2008 Apr, : 237-45
    • Guerrini R, Dobyns WB, Barkovich AJ
      Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options.
      18262290 Trends in neurosciences , 2008 Mar. : 154-62
    • Kumar RA, KaraMohamed S, Sudi J, Conrad DF, Brune C, Badner JA, Gilliam TC, Nowak NJ, Cook EH Jr, Dobyns WB, Christian SL
      Recurrent 16p11.2 microdeletions in autism.
      18156158 Human molecular genetics , 2008 Feb. 15 : 628-38
    • Kornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B, Rajab A, Budde B, Nürnberg P, Foulquier F, Lefeber D, Urban Z, Gruenewald S, Annaert W, Brunner HG, van Bokhoven H, Wevers R, Morava E, Matthijs G, Van Maldergem L, Mundlos S
      Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
      18157129 Nature genetics , 2008 Jan. : 32-4
    • Leventer RJ, Guerrini R, Dobyns WB
      Malformations of cortical development and epilepsy.
      18472484 Dialogues in clinical neuroscience , 2008 : 47-62
    • Conway RL, Pressman BD, Dobyns WB, Danielpour M, Lee J, Sanchez-Lara PA, Butler MG, Zackai E, Campbell L, Saitta SC, Clericuzio CL, Milunsky JM, Hoyme HE, Shieh J, Moeschler JB, Crandall B, Lauzon JL, Viskochil DH, Harding B, Graham JM Jr
      Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.
      18000912 American journal of medical genetics. Part A , 2007 Dec. 15 : 2981-3008
    • Moog U, Jones MC, Viskochil DH, Verloes A, Van Allen MI, Dobyns WB
      Brain anomalies in encephalocraniocutaneous lipomatosis.
      18000987 American journal of medical genetics. Part A , 2007 Dec. 15 : 2963-72
    • Conway RL, Pressman BD, Dobyns WB, Danielpour M, Lee J, Sanchez-Lara PA, Butler MG, Zackai E, Campbell L, Saitta SC, Clericuzio CL, Milunsky JM, Hoyme HE, Shieh J, Moeschler JB, Crandall B, Lauzon JL, Viskochil DH, Harding B, Graham JM Jr
      Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.
      18000912 American journal of medical genetics. Part A , 2007 Dec. 15 - 2007 Dec. 15 : 143A(24)2981-3008
    • Barkovich AJ, Millen KJ, Dobyns WB
      A developmental classification of malformations of the brainstem.
      17924529 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.
      17668379 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.
      17431900 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.
      17191205 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.
      17282997 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.
      17036343 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?
      17031806 The anatomical record. Part A, Discoveries in molecular, cellular, and evolutionary biology , 2006 Nov. : 1123-45
    • Martin RD, Maclarnon AM, Phillips JL, Dobyns WB
      Flores hominid: new species or microcephalic dwarf?
      17031806 The anatomical record. Part A, Discoveries in molecular, cellular, and evolutionary biology , 2006 Nov. - 2006 Nov. : 288(11)1123-45
    • Dobyns WB
      The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked.
      16720459 Acta paediatrica (Oslo, Norway : 1992). Supplement , 2006 Apr, : 11-5
    • Valente EM, Brancati F, Silhavy JL, Castori M, Marsh SE, Barrano G, Bertini E, Boltshauser E, Zaki MS, Abdel-Aleem A, Abdel-Salam GM, Bellacchio E, Battini R, Cruse RP, Dobyns WB, Krishnamoorthy KS, Lagier-Tourenne C, Magee A, Pascual-Castroviejo I, Salpietro CD, Sarco D, Dallapiccola B, Gleeson JG
      AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
      16453322 Annals of neurology , 2006 Mar. : 527-34
    • Vajsar J, Zhang W, Dobyns WB, Biggar D, Holden KR, Hawkins C, Ray P, Olney AH, Burson CM, Srivastava AK, Schachter H
      Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts.
      16427280 Neuromuscular disorders : NMD , 2006 Feb. : 132-6
    • Wieck G, Leventer RJ, Squier WM, Jansen A, Andermann E, Dubeau F, Ramazzotti A, Guerrini R, Dobyns WB
      Periventricular nodular heterotopia with overlying polymicrogyria.
      16311271 Brain : a journal of neurology , 2005 Dec. : 2811-21
    • Piao X, Chang BS, Bodell A, Woods K, Benzeev B, Topcu M, Guerrini R, Goldberg-Stern H, Sztriha L, Dobyns WB, Barkovich AJ, Walsh CA
      Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.
      16240336 Annals of neurology , 2005 Nov. : 680-7
    • Forman MS, Squier W, Dobyns WB, Golden JA
      Genotypically defined lissencephalies show distinct pathologies.
      16215456 Journal of neuropathology and experimental neurology , 2005 Oct. : 847-57
    • Gilbert SL, Dobyns WB, Lahn BT
      Genetic links between brain development and brain evolution.
      15951746 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".
      15921244 Journal of child neurology , 2005 Apr, : 392-7
    • Kato M, Dobyns WB
      X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy".
      15921244 Journal of child neurology , 2005 Apr, - 2005 Apr, : 20(4)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.
      15696165 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.
      15637732 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.
      15338008 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.
      15316978 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.
      15216543 American journal of medical genetics. Part A , 2004 July 30 : 235-45
    • de Carvalho Aguiar P, Sweadner KJ, Penniston JT, Zaremba J, Liu L, Caton M, Linazasoro G, Borg M, Tijssen MA, Bressman SB, Dobyns WB, Brashear A, Ozelius LJ
      Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.
      15260953 Neuron , 2004 July 22 : 169-75
    • de Carvalho Aguiar P, Sweadner KJ, Penniston JT, Zaremba J, Liu L, Caton M, Linazasoro G, Borg M, Tijssen MA, Bressman SB, Dobyns WB, Brashear A, Ozelius LJ
      Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.
      15260953 Neuron , 2004 July 22 - 2004 July 22 : 43(2)169-75
    • Parisi MA, Bennett CL, Eckert ML, Dobyns WB, Gleeson JG, Shaw DW, McDonald R, Eddy A, Chance PF, Glass IA
      The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
      15138899 American journal of human genetics , 2004 July : 82-91
    • Kamm C, Leung J, Joseph S, Dobyns WB, Brashear A, Breakefield XO, Ozelius LJ
      Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene.
      15254951 Movement disorders : official journal of the Movement Disorder Society , 2004 July : 845-7
    • Piao X, Hill RS, Bodell A, Chang BS, Basel-Vanagaite L, Straussberg R, Dobyns WB, Qasrawi B, Winter RM, Innes AM, Voit T, Ross ME, Michaud JL, Déscarie JC, Barkovich AJ, Walsh CA
      G protein-coupled receptor-dependent development of human frontal cortex.
      15044805 Science (New York, N.Y.) , 2004 Mar. 26 : 2033-6
    • Keegan CE, Vilain E, Mohammed M, Lehoczky J, Dobyns WB, Archer SM, Innis JW
      Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal.
      14994240 American journal of medical genetics. Part A , 2004 Mar. 15 : 293-8
    • Gleeson JG, Keeler LC, Parisi MA, Marsh SE, Chance PF, Glass IA, Graham Jr JM, Maria BL, Barkovich AJ, Dobyns WB
      Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.
      14981712 American journal of medical genetics. Part A , 2004 Mar. 1 : 125-34; discussion 117
    • Stevens CA, Dobyns WB
      Septo-optic dysplasia and amniotic bands: further evidence for a vascular pathogenesis.
      14755460 American journal of medical genetics. Part A , 2004 Feb. 15 : 12-6
    • Kato M, Das S, Petras K, Kitamura K, Morohashi K, Abuelo DN, Barr M, Bonneau D, Brady AF, Carpenter NJ, Cipero KL, Frisone F, Fukuda T, Guerrini R, Iida E, Itoh M, Lewanda AF, Nanba Y, Oka A, Proud VK, Saugier-Veber P, Schelley SL, Selicorni A, Shaner R, Silengo M, Stewart F, Sugiyama N, Toyama J, Toutain A, Vargas AL, Yanazawa M, Zackai EH, Dobyns WB
      Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
      14722918 Human mutation , 2004 Feb. : 147-59
    • Giampietro PF, Babu D, Koehn MA, Jacobson DM, Mueller-Schrader KA, Moretti C, Patten SF, Shaffer LG, Gorlin RJ, Dobyns WB
      New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria.
      14699622 American journal of medical genetics. Part A , 2004 Jan. 15 : 202-8
    • Giampietro PF, Babu D, Koehn MA, Jacobson DM, Mueller-Schrader KA, Moretti C, Patten SF, Shaffer LG, Gorlin RJ, Dobyns WB
      New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria.
      14699622 American journal of medical genetics. Part A , 2004 Jan. 15 - 2004 Jan. 15 : 124A(2)202-8
    • Gilbert SL, Ozdag F, Ulas UH, Dobyns WB, Lahn BT
      Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families.
      15771552 Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology , 2004 : 151-5
    • Parisi MA, Dobyns WB
      Human malformations of the midbrain and hindbrain: review and proposed classification scheme.
      14567956 Molecular genetics and metabolism , 2003 Sept. : 36-53
    • Ramocki MB, Dowling J, Grinberg I, Kimonis VE, Cardoso C, Gross A, Chung J, Martin CL, Ledbetter DH, Dobyns WB, Millen KJ
      Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32.
      12825074 European journal of human genetics : EJHG , 2003 July : 527-34
    • Guerrini R, Moro F, Andermann E, Hughes E, D'Agostino D, Carrozzo R, Bernasconi A, Flinter F, Parmeggiani L, Volzone A, Parrini E, Mei D, Jarosz JM, Morris RG, Pratt P, Tortorella G, Dubeau F, Andermann F, Dobyns WB, Das S
      Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations.
      12838518 Annals of neurology , 2003 July : 30-7
    • Chang BS, Piao X, Bodell A, Basel-Vanagaite L, Straussberg R, Dobyns WB, Qasrawi B, Winter RM, Innes AM, Voit T, Grant PE, Barkovich AJ, Walsh CA
      Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.
      12730993 Annals of neurology , 2003 May : 596-606
    • Cardoso C, Leventer RJ, Ward HL, Toyo-Oka K, Chung J, Gross A, Martin CL, Allanson J, Pilz DT, Olney AH, Mutchinick OM, Hirotsune S, Wynshaw-Boris A, Dobyns WB, Ledbetter DH
      Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.
      12621583 American journal of human genetics , 2003 Apr, : 918-30
    • Kato M, Dobyns WB
      Lissencephaly and the molecular basis of neuronal migration.
      12668601 Human molecular genetics , 2003 Apr, 1 : R89-96
    • Kato M, Dobyns WB
      Lissencephaly and the molecular basis of neuronal migration.
      12668601 Human molecular genetics , 2003 Apr, 1 - 2003 Apr, 1 : 12 Spec No 1R89-96
    • 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.
      12369018 American journal of human genetics , 2002 Nov. : 1033-43
    • Dobyns WB
      Primary microcephaly: new approaches for an old disorder.
      12376930 American journal of medical genetics , 2002 Nov. 1 : 315-7
    • Kitamura K, Yanazawa M, Sugiyama N, Miura H, Iizuka-Kogo A, Kusaka M, Omichi K, Suzuki R, Kato-Fukui Y, Kamiirisa K, Matsuo M, Kamijo S, Kasahara M, Yoshioka H, Ogata T, Fukuda T, Kondo I, Kato M, Dobyns WB, Yokoyama M, Morohashi K
      Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.
      12379852 Nature genetics , 2002 Nov. : 359-69
    • D'Agostino MD, Bernasconi A, Das S, Bastos A, Valerio RM, Palmini A, Costa da Costa J, Scheffer IE, Berkovic S, Guerrini R, Dravet C, Ono J, Gigli G, Federico A, Booth F, Bernardi B, Volpi L, Tassinari CA, Guggenheim MA, Ledbetter DH, Gleeson JG, Lopes-Cendes I, Vossler DG, Malaspina E, Franzoni E, Sartori RJ, Mitchell MH, Mercho S, Dubeau F, Andermann F, Dobyns WB, Andermann E
      Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females.
      12390976 Brain : a journal of neurology , 2002 Nov. : 2507-22
    • Villard L, Nguyen K, Cardoso C, Martin CL, Weiss AM, Sifry-Platt M, Grix AW, Graham JM Jr, Winter RM, Leventer RJ, Dobyns WB
      A locus for bilateral perisylvian polymicrogyria maps to Xq28.
      11822025 American journal of human genetics , 2002 Apr, : 1003-8
    • Cardoso C, Leventer RJ, Dowling JJ, Ward HL, Chung J, Petras KS, Roseberry JA, Weiss AM, Das S, Martin CL, Pilz DT, Dobyns WB, Ledbetter DH
      Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).
      11754098 Human mutation , 2002 Jan. : 4-15

  • Grant Title Grantor Amount Award Date
    MEGALENCEPHALY AND SEGMENTAL BRAIN OVERGROWTH IN HUMANS NIH Oct. 1, 2015 - Sept. 30, 2020
    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
    ACC: CALLOSAL AGENESIS AS A WINDOW INTO COMMON NEURODEVELOPMENTAL DISORDERS (DE NOVO COPY NUMBER VARIATION AND GENE DISCOVERY IN HUMAN BRAIN MALFORMATIONS) NIH March 1, 2008 - April 30, 2020
    J.P. Kennedy Mental Retardation and Developmental Disabilities Center NIH Sept. 15, 2006
    The genetic basis of mid-hindbrain malformations NIH Sept. 15, 2005
    THE GENETIC BASIS OF DANDY-WALKER AND OTHER MID-HINDBRAIN MALFORMATIONS NIH Dec. 1, 2004 - May 31, 2020
    Molecular characterization of Joubert syndrome NIH April 1, 2004
    Human epilepsy genetics neuronal migration disorders NIH July 1, 2002
    MOSAIC: POST-ZYGOTIC MUTATIONS IN VASCULAR AND LYMPHATIC DEVELOPMENTAL DISORDERS NIH

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