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William B. Dobyns - Publications

Affiliations: 
Human Genetics University of Chicago, Chicago, IL 
Area:
Pediatric Neurology
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Year Citation  Score
2020 Adam AP, Curry CJ, Hall JG, Keppler-Noreuil KM, Adam MP, Dobyns WB. Recurrent constellations of embryonic malformations re-conceptualized as an overlapping group of disorders with shared pathogenesis. American Journal of Medical Genetics. Part A. PMID 32924308 DOI: 10.1002/Ajmg.A.61847  0.359
2020 Oegema R, Barakat TS, Wilke M, Stouffs K, Amrom D, Aronica E, Bahi-Buisson N, Conti V, Fry AE, Geis T, Andres DG, Parrini E, Pogledic I, Said E, Soler D, ... ... Dobyns WB, et al. International consensus recommendations on the diagnostic work-up for malformations of cortical development. Nature Reviews. Neurology. PMID 32895508 DOI: 10.1038/S41582-020-0395-6  0.355
2020 Brock S, Vanderhasselt T, Vermaning S, Keymolen K, Régal L, Romaniello R, Wieczorek D, Storm TM, Schaeferhoff K, Hehr U, Kuechler A, Krägeloh-Mann I, Haack TB, Kasteleijn E, Schot R, ... ... Dobyns WB, et al. Defining the phenotypical spectrum associated with variants in . Journal of Medical Genetics. PMID 32571897 DOI: 10.1136/jmedgenet-2019-106740  0.317
2020 Lennox AL, Hoye ML, Jiang R, Johnson-Kerner BL, Suit LA, Venkataramanan S, Sheehan CJ, Alsina FC, Fregeau B, Aldinger KA, Moey C, Lobach I, Afenjar A, Babovic-Vuksanovic D, Bézieau S, ... ... Dobyns W, et al. Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development. Neuron. PMID 32135084 DOI: 10.1016/J.Neuron.2020.01.042  0.333
2020 Nambot S, Faivre L, Mirzaa G, Thevenon J, Bruel AL, Mosca-Boidron AL, Masurel-Paulet A, Goldenberg A, Le Meur N, Charollais A, Mignot C, Petit F, Rossi M, Metreau J, Layet V, ... ... Dobyns WB, et al. De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature. European Journal of Human Genetics : Ejhg. PMID 32005960 DOI: 10.1038/S41431-020-0571-6  0.324
2019 Mak CCY, Doherty D, Lin AE, Vegas N, Cho MT, Viot G, Dimartino C, Weisfeld-Adams JD, Lessel D, Joss S, Li C, Gonzaga-Jauregui C, Zarate YA, Ehmke N, Horn D, ... ... Dobyns WB, et al. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. Brain : a Journal of Neurology. PMID 31834374 DOI: 10.1093/Brain/Awz379  0.352
2019 Marzin P, Rondeau S, Aldinger KA, Alessandri JL, Isidor B, Heron D, Keren B, Dobyns WB, Cormier-Daire V. SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. PMID 31643139 DOI: 10.1002/ajmg.c.31746  0.369
2019 Haldipur P, Aldinger KA, Bernardo S, Deng M, Timms AE, Overman LM, Winter C, Lisgo SN, Razavi F, Silvestri E, Manganaro L, Adle-Biasette H, Guilmiot F, Russo R, Kidron D, ... ... Dobyns WB, et al. Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum. Science (New York, N.Y.). 366: 454-460. PMID 31624095 DOI: 10.1126/Science.Aax7526  0.608
2019 Lee S, Chen DY, Zaki MS, Maroofian R, Houlden H, Di Donato N, Abdin D, Morsy H, Mirzaa GM, Dobyns WB, McEvoy-Venneri J, Stanley V, James KN, Mancini GMS, Schot R, et al. Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay. American Journal of Human Genetics. 105: 844-853. PMID 31585108 DOI: 10.1016/J.Ajhg.2019.08.013  0.56
2019 Vabres P, Sorlin A, Kholmanskikh SS, Demeer B, St-Onge J, Duffourd Y, Kuentz P, Courcet JB, Carmignac V, Garret P, Bessis D, Boute O, Bron A, Captier G, Carmi E, ... ... Dobyns WB, et al. Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome. Nature Genetics. PMID 31570889 DOI: 10.1038/S41588-019-0498-4  0.355
2019 Zenner K, Cheng CV, Jensen DM, Timms AE, Shivaram G, Bly R, Ganti S, Whitlock KB, Dobyns WB, Perkins J, Bennett JT. Genotype correlates with clinical severity in PIK3CA-associated lymphatic malformations. Jci Insight. PMID 31536475 DOI: 10.1172/Jci.Insight.129884  0.326
2019 Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, ... ... Dobyns WB, et al. Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. American Journal of Human Genetics. PMID 31495489 DOI: 10.1016/J.Ajhg.2019.08.006  0.496
2019 Aldinger KA, Timms AE, Thomson Z, Mirzaa GM, Bennett JT, Rosenberg AB, Roco CM, Hirano M, Abidi F, Haldipur P, Cheng CV, Collins S, Park K, Zeiger J, Overmann LM, ... ... Dobyns WB, et al. Redefining the Etiologic Landscape of Cerebellar Malformations. American Journal of Human Genetics. PMID 31474318 DOI: 10.1016/J.Ajhg.2019.07.019  0.722
2019 Dobyns WB, Mirzaa GM. Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. PMID 31441589 DOI: 10.1002/ajmg.c.31736  0.363
2019 Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, ... ... Dobyns WB, et al. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. American Journal of Human Genetics. PMID 31327508 DOI: 10.1016/J.Ajhg.2019.06.014  0.448
2019 Vandervore LV, Schot R, Kasteleijn E, Oegema R, Stouffs K, Gheldof A, Grochowska MM, van der Sterre MLT, van Unen LMA, Wilke M, Elfferich P, van der Spek PJ, Heijsman D, Grandone A, Demmers JAA, ... ... Dobyns WB, et al. Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics. Brain : a Journal of Neurology. PMID 30879067 DOI: 10.1093/brain/awz045  0.33
2019 Moog U, Dobyns WB. An update on oculocerebrocutaneous (Delleman-Oorthuys) syndrome. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 178: 414-422. PMID 30580480 DOI: 10.1002/ajmg.c.31667  0.318
2018 Aldinger KA, Dempsey JC, Tully HM, Grout ME, Mehaffey MG, Dobyns WB, Doherty D. Rhombencephalosynapsis: Fused cerebellum, confused geneticists. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 178: 432-439. PMID 30580482 DOI: 10.1002/Ajmg.C.31666  0.419
2018 Dobyns WB, Aldinger KA, Ishak GE, Mirzaa GM, Timms AE, Grout ME, Dremmen MHG, Schot R, Vandervore L, van Slegtenhorst MA, Wilke M, Kasteleijn E, Lee AS, Barry BJ, Chao KR, et al. MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. American Journal of Human Genetics. PMID 30471716 DOI: 10.1016/J.Ajhg.2018.10.019  0.448
2018 Tripathy R, Leca I, van Dijk T, Weiss J, van Bon BW, Sergaki MC, Gstrein T, Breuss M, Tian G, Bahi-Buisson N, Paciorkowski AR, Pagnamenta AT, Wenninger-Weinzierl A, Martinez-Reza MF, Landler L, ... ... Dobyns WB, et al. Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations. Neuron. PMID 30449657 DOI: 10.1016/J.Neuron.2018.10.044  0.496
2018 Schanze I, Bunt J, Lim JWC, Schanze D, Dean RJ, Alders M, Blanchet P, Attié-Bitach T, Berland S, Boogert S, Boppudi S, Bridges CJ, Cho MT, Dobyns WB, Donnai D, et al. NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly. American Journal of Human Genetics. 103: 752-768. PMID 30388402 DOI: 10.1016/J.Ajhg.2018.10.006  0.336
2018 Schaffer AE, Breuss MW, Caglayan AO, Al-Sanaa N, Al-Abdulwahed HY, Kaymakçalan H, Yılmaz C, Zaki MS, Rosti RO, Copeland B, Baek ST, Musaev D, Scott EC, Ben-Omran T, Kariminejad A, ... ... Dobyns WB, et al. Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. Nature Genetics. PMID 30013181 DOI: 10.1038/S41588-018-0166-0  0.514
2018 Heinzen EL, O'Neill AC, Zhu X, Allen AS, Bahlo M, Chelly J, Dobyns WB, Freytag S, Guerrini R, Leventer RJ, Poduri A, Robertson SP, Walsh CA, Zhang M, et al. De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. Plos Genetics. 14: e1007281. PMID 29738522 DOI: 10.1371/journal.pgen.1007281  0.31
2018 Brock S, Stouffs K, Scalais E, D'Hooghe M, Keymolen K, Guerrini R, Dobyns WB, Di Donato N, Jansen AC. Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1. European Journal of Human Genetics : Ejhg. PMID 29706637 DOI: 10.1038/s41431-018-0146-y  0.304
2018 Di Donato N, Timms AE, Aldinger KA, Mirzaa GM, Bennett JT, Collins S, Olds C, Mei D, Chiari S, Carvill G, Myers CT, Rivière JB, Zaki MS, Gleeson JG, ... ... Dobyns WB, et al. Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29671837 DOI: 10.1038/Gim.2018.8  0.613
2018 Fry AE, Fawcett KA, Zelnik N, Yuan H, Thompson BAN, Shemer-Meiri L, Cushion TD, Mugalaasi H, Sims D, Stoodley N, Chung SK, Rees MI, Patel CV, Brueton LA, Layet V, ... ... Dobyns WB, et al. De novo mutations in GRIN1 cause extensive bilateral polymicrogyria. Brain : a Journal of Neurology. PMID 29365063 DOI: 10.1093/Brain/Awx358  0.308
2018 Steiner JE, McCoy GN, Hess CP, Dobyns WB, Metry DW, Drolet BA, Maheshwari M, Siegel DH. Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome. American Journal of Medical Genetics. Part A. 176: 48-55. PMID 29171184 DOI: 10.1002/ajmg.a.38523  0.304
2018 Vabres P, Sorlin A, Kholmanskikh S, Duffourd Y, Kuentz P, Carmignac V, Bessis D, Dobyns W, Polubothu S, Faravelli F, Kinsler V, Faivre L, Ross M, Rivière J. 794 Postzygotic dominant-negative mutations of RHOA cause a mosaic neuroectodermal syndrome Journal of Investigative Dermatology. 138: S135. DOI: 10.1016/J.Jid.2018.03.804  0.323
2017 Leibovitz Z, Mandel H, Falik-Zaccai TC, Ben Harouch S, Savitzki D, Krajden-Haratz K, Gindes L, Tamarkin M, Lev D, Dobyns WB, Lerman-Sagie T. Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. PMID 29337005 DOI: 10.1016/j.ejpn.2017.12.012  0.302
2017 Syrbe S, Harms FL, Parrini E, Montomoli M, Mütze U, Helbig KL, Polster T, Albrecht B, Bernbeck U, van Binsbergen E, Biskup S, Burglen L, Denecke J, Heron B, Heyne HO, ... ... Dobyns WB, et al. Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy. Brain : a Journal of Neurology. 140: 2322-2336. PMID 29050398 DOI: 10.1093/brain/awx195  0.376
2017 Alcantara D, Timms AE, Gripp K, Baker L, Park K, Collins S, Cheng C, Stewart F, Mehta SG, Saggar A, Sztriha L, Zombor M, Caluseriu O, Mesterman R, Van Allen MI, ... ... Dobyns WB, et al. Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly. Brain : a Journal of Neurology. 140: 2610-2622. PMID 28969385 DOI: 10.1093/Brain/Awx203  0.476
2017 De Mori R, Romani M, D'Arrigo S, Zaki MS, Lorefice E, Tardivo S, Biagini T, Stanley V, Musaev D, Fluss J, Micalizzi A, Nuovo S, Illi B, Chiapparini L, Di Marcotullio L, ... ... Dobyns WB, et al. Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. American Journal of Human Genetics. PMID 28965847 DOI: 10.1016/J.Ajhg.2017.08.017  0.558
2017 Van De Weghe JC, Rusterholz TDS, Latour B, Grout ME, Aldinger KA, Shaheen R, Dempsey JC, Maddirevula S, Cheng YH, Phelps IG, Gesemann M, Goel H, Birk OS, Alanzi T, Rawashdeh R, ... ... Dobyns WB, et al. Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. American Journal of Human Genetics. PMID 28625504 DOI: 10.1016/J.Ajhg.2017.05.010  0.407
2017 Oegema R, Baillat D, Schot R, van Unen LM, Brooks A, Kia SK, Hoogeboom AJM, Xia Z, Li W, Cesaroni M, Lequin MH, van Slegtenhorst M, Dobyns WB, de Coo IFM, Verheijen FW, et al. Human mutations in integrator complex subunits link transcriptome integrity to brain development. Plos Genetics. 13: e1006809. PMID 28542170 DOI: 10.1371/Journal.Pgen.1006809  0.355
2017 Di Donato N, Chiari S, Mirzaa GM, Aldinger K, Parrini E, Olds C, Barkovich AJ, Guerrini R, Dobyns WB. Lissencephaly: Expanded imaging and clinical classification. American Journal of Medical Genetics. Part A. 173: 1473-1488. PMID 28440899 DOI: 10.1002/Ajmg.A.38245  0.37
2017 Lardelli RM, Schaffer AE, Eggens VR, Zaki MS, Grainger S, Sathe S, Van Nostrand EL, Schlachetzki Z, Rosti B, Akizu N, Scott E, Silhavy JL, Heckman LD, Rosti RO, Dikoglu E, ... ... Dobyns WB, et al. Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nature Genetics. PMID 28092684 DOI: 10.1038/Ng.3762  0.549
2017 Haldipur P, Dang D, Aldinger KA, Janson OK, Guimiot F, Adle-Biasette H, Dobyns WB, Siebert JR, Russo R, Millen KJ. Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms. Elife. 6. PMID 28092268 DOI: 10.7554/Elife.20898  0.611
2017 Vabres P, Sorlin A, Kholmanskikh S, Demeer B, St-Onge J, Duffourd Y, Kuentz P, Courcet J, carmignac v, Bessis D, Bernard G, Dobyns W, Faivre L, Ross M, Rivière J. 616 Postzygotic mutations of RHOA cause a mosaic neuroectodermal syndrome Journal of Investigative Dermatology. 137: S298. DOI: 10.1016/J.Jid.2017.07.292  0.33
2016 Garavelli L, Ivanovski I, Caraffi SG, Santodirocco D, Pollazzon M, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Baldo C, Bayat A, Belligni E, Bonvicini F, Breckpot J, Callewaert B, ... ... Dobyns WB, et al. Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 27831545 DOI: 10.1038/gim.2016.176  0.327
2016 Moore CA, Staples JE, Dobyns WB, Pessoa A, Ventura CV, Fonseca EB, Ribeiro EM, Ventura LO, Neto NN, Arena JF, Rasmussen SA. Characterizing the Pattern of Anomalies in Congenital Zika Syndrome for Pediatric Clinicians. Jama Pediatrics. PMID 27812690 DOI: 10.1001/Jamapediatrics.2016.3982  0.339
2016 Parrini E, Conti V, Dobyns WB, Guerrini R. Genetic Basis of Brain Malformations. Molecular Syndromology. 7: 220-233. PMID 27781032 DOI: 10.1159/000448639  0.367
2016 Di Donato N, Jean YY, Maga AM, Krewson BD, Shupp AB, Avrutsky MI, Roy A, Collins S, Olds C, Willert RA, Czaja AM, Johnson R, Stover JA, Gottlieb S, Bartholdi D, ... ... Dobyns WB, et al. Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. American Journal of Human Genetics. PMID 27773430 DOI: 10.1016/J.Ajhg.2016.09.010  0.619
2016 Ravenscroft G, Di Donato N, Hahn G, Davis MR, Craven PD, Poke G, Neas KR, Neuhann TM, Dobyns WB, Laing NG. Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria. Neuromuscular Disorders : Nmd. PMID 27751653 DOI: 10.1016/J.Nmd.2016.09.009  0.457
2016 Mirzaa G, Timms AE, Conti V, Boyle EA, Girisha KM, Martin B, Kircher M, Olds C, Juusola J, Collins S, Park K, Carter M, Glass I, Krägeloh-Mann I, Chitayat D, ... ... Dobyns WB, et al. PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. Jci Insight. 1. PMID 27631024 DOI: 10.1172/Jci.Insight.87623  0.451
2016 Gripp KW, Aldinger KA, Bennett JT, Baker L, Tusi J, Powell-Hamilton N, Stabley D, Sol-Church K, Timms AE, Dobyns WB. A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. American Journal of Medical Genetics. Part A. PMID 27264673 DOI: 10.1002/Ajmg.A.37781  0.343
2016 Di Donato N, Kuechler A, Velgano S, Heinritz W, Bodurtha J, Merchant SR, Breningstall G, Ladda R, Sell S, Altmüller J, Bögershausen N, Timms AE, Hackmann K, Schrock E, Collins S, ... ... Dobyns WB, et al. Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. American Journal of Medical Genetics. Part A. PMID 27240540 DOI: 10.1002/Ajmg.A.37771  0.405
2016 Twigg SR, Hufnagel RB, Miller KA, Zhou Y, McGowan SJ, Taylor J, Craft J, Taylor JC, Santoro SL, Huang T, Hopkin RJ, Brady AF, Clayton-Smith J, Clericuzio CL, Grange DK, ... ... Dobyns WB, et al. A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. American Journal of Human Genetics. PMID 27236920 DOI: 10.1016/J.Ajhg.2016.04.007  0.359
2016 Mirzaa GM, Campbell CD, Solovieff N, Goold CP, Jansen LA, Menon S, Timms AE, Conti V, Biag JD, Olds C, Boyle EA, Collins S, Ishak G, Poliachik SL, Girisha KM, ... ... Dobyns WB, et al. Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. Jama Neurology. PMID 27159400 DOI: 10.1001/Jamaneurol.2016.0363  0.398
2016 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, ... ... Dobyns WB, et al. Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. American Journal of Human Genetics. 98: 579-87. PMID 26942290 DOI: 10.1016/J.Ajhg.2016.02.006  0.305
2015 Mishra-Gorur K, Çağlayan AO, Schaffer AE, Chabu C, Henegariu O, Vonhoff F, Akgümüş GT, Nishimura S, Han W, Tu S, Baran B, Gümüş H, Dilber C, Zaki MS, Hossni HAA, ... ... Dobyns WB, et al. Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors. Neuron. 85: 228. PMID 29654772 DOI: 10.1016/J.Neuron.2014.12.046  0.522
2015 Aldinger KA, Mendelsohn NJ, Chung BH, Zhang W, Cohn DH, Fernandez B, Alkuraya FS, Dobyns WB, Curry CJ. Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations. Journal of Medical Genetics. PMID 26671912 DOI: 10.1136/jmedgenet-2015-103476  0.353
2015 Roy A, Skibo J, Kalume F, Ni J, Rankin S, Lu Y, Dobyns WB, Mills GB, Zhao JJ, Baker SJ, Millen KJ. Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy. Elife. 4. PMID 26633882 DOI: 10.7554/Elife.12703  0.627
2015 Mirzaa GM, Conti V, Timms AE, Smyser CD, Ahmed S, Carter M, Barnett S, Hufnagel RB, Goldstein A, Narumi-Kishimoto Y, Olds C, Collins S, Johnston K, Deleuze JF, Nitschké P, ... ... Dobyns WB, et al. Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. The Lancet. Neurology. PMID 26520804 DOI: 10.1016/S1474-4422(15)00278-1  0.416
2015 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, et al. Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. Human Mutation. PMID 26507355 DOI: 10.1002/Humu.22924  0.364
2015 Leto K, Arancillo M, Becker EB, Buffo A, Chiang C, Ding B, Dobyns WB, Dusart I, Haldipur P, Hatten ME, Hoshino M, Joyner AL, Kano M, Kilpatrick DL, Koibuchi N, et al. Consensus Paper: Cerebellar Development. Cerebellum (London, England). PMID 26439486 DOI: 10.1007/S12311-015-0724-2  0.561
2015 McMahon KQ, Papandreou A, Ma M, Barry BJ, Mirzaa GM, Dobyns WB, Scott RH, Trump N, Kurian MA, Paciorkowski AR. Familial recurrences of FOXG1-related disorder: Evidence for mosaicism. American Journal of Medical Genetics. Part A. PMID 26364767 DOI: 10.1002/ajmg.a.37353  0.305
2015 Tully HM, Ishak GE, Rue TC, Dempsey JC, Browd SR, Millen KJ, Doherty D, Dobyns WB. Two Hundred Thirty-Six Children With Developmental Hydrocephalus: Causes and Clinical Consequences. Journal of Child Neurology. PMID 26184484 DOI: 10.1177/0883073815592222  0.568
2015 Oegema R, Cushion TD, Phelps IG, Chung SK, Dempsey JC, Collins S, Mullins JG, Dudding T, Gill H, Green AJ, Dobyns WB, Ishak GE, Rees MI, Doherty D. Recognisable cerebellar dysplasia associated with mutations in multiple tubulin genes. Human Molecular Genetics. PMID 26130693 DOI: 10.1093/hmg/ddv250  0.376
2015 Roosing S, Hofree M, Kim S, Scott E, Copeland B, Romani M, Silhavy JL, Rosti RO, Schroth J, Mazza T, Miccinilli E, Zaki MS, Swoboda KJ, Milisa-Drautz J, Dobyns WB, et al. Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. Elife. 4. PMID 26026149 DOI: 10.7554/Elife.06602  0.554
2015 Hansen J, Snow C, Tuttle E, Ghoneim DH, Yang CS, Spencer A, Gunter SA, Smyser CD, Gurnett CA, Shinawi M, Dobyns WB, Wheless J, Halterman MW, Jansen LA, Paschal BM, et al. De novo mutations in SIK1 cause a spectrum of developmental epilepsies. American Journal of Human Genetics. 96: 682-90. PMID 25839329 DOI: 10.1016/J.Ajhg.2015.02.013  0.339
2015 Jansen LA, Mirzaa GM, Ishak GE, O'Roak BJ, Hiatt JB, Roden WH, Gunter SA, Christian SL, Collins S, Adams C, Rivière JB, St-Onge J, Ojemann JG, Shendure J, Hevner RF, ... Dobyns WB, et al. PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia. Brain : a Journal of Neurology. 138: 1613-28. PMID 25722288 DOI: 10.1093/Brain/Awv045  0.358
2015 Luks VL, Kamitaki N, Vivero MP, Uller W, Rab R, Bovée JV, Rialon KL, Guevara CJ, Alomari AI, Greene AK, Fishman SJ, Kozakewich HP, Maclellan RA, Mulliken JB, Rahbar R, ... ... Dobyns WB, et al. Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA. The Journal of Pediatrics. 166: 1048-54.e1-5. PMID 25681199 DOI: 10.1016/J.Jpeds.2014.12.069  0.319
2015 Keppler-Noreuil KM, Rios JJ, Parker VE, Semple RK, Lindhurst MJ, Sapp JC, Alomari A, Ezaki M, Dobyns W, Biesecker LG. PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. American Journal of Medical Genetics. Part A. 167: 287-95. PMID 25557259 DOI: 10.1002/Ajmg.A.36836  0.439
2015 Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, ... ... Dobyns WB, et al. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. European Journal of Human Genetics : Ejhg. 23: 292-301. PMID 25052316 DOI: 10.1038/Ejhg.2014.95  0.399
2015 Barkovich AJ, Dobyns WB, Guerrini R. Malformations of cortical development and epilepsy Cold Spring Harbor Perspectives in Medicine. 5. DOI: 10.1101/Cshperspect.A022392  0.39
2014 Mishra-Gorur K, Ça?layan AO, Schaffer AE, Chabu C, Henegariu O, Vonhoff F, Akgümü? GT, Nishimura S, Han W, Tu S, Baran B, Gümü? H, Dilber C, Zaki MS, Hossni HA, ... ... Dobyns WB, et al. Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors. Neuron. 84: 1226-39. PMID 25521378 DOI: 10.1016/J.Neuron.2014.12.014  0.577
2014 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, et al. Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease. The Journal of Clinical Investigation. 124: 4877-81. PMID 25250569 DOI: 10.1172/Jci75109  0.618
2014 Kakar N, Ahmad J, Morris-Rosendahl DJ, Altmüller J, Friedrich K, Barbi G, Nürnberg P, Kubisch C, Dobyns WB, Borck G. STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly Human Genetics. 134: 45-51. PMID 25218063 DOI: 10.1007/s00439-014-1487-4  0.411
2014 Guerrini R, Dobyns WB. Malformations of cortical development: Clinical features and genetic causes The Lancet Neurology. 13: 710-726. PMID 24932993 DOI: 10.1016/S1474-4422(14)70040-7  0.345
2014 Mirzaa GM, Vitre B, Carpenter G, Abramowicz I, Gleeson JG, Paciorkowski AR, Cleveland DW, Dobyns WB, O'Driscoll M. Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. Human Genetics. 133: 1023-39. PMID 24748105 DOI: 10.1007/S00439-014-1443-3  0.539
2014 Mirzaa GM, Parry DA, Fry AE, Giamanco KA, Schwartzentruber J, Vanstone M, Logan CV, Roberts N, Johnson CA, Singh S, Kholmanskikh SS, Adams C, Hodge RD, Hevner RF, Bonthron DT, ... ... Dobyns WB, et al. De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Nature Genetics. 46: 510-5. PMID 24705253 DOI: 10.1038/Ng.2948  0.413
2014 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. American Journal of Human Genetics. 94: 634-41. PMID 24702957 DOI: 10.1016/j.ajhg.2014.03.009  0.325
2014 Mirzaa GM, Millen KJ, Barkovich AJ, Dobyns WB, Paciorkowski AR. The Developmental Brain Disorders Database (DBDB): a curated neurogenetics knowledge base with clinical and research applications. American Journal of Medical Genetics. Part A. 164: 1503-11. PMID 24700709 DOI: 10.1002/ajmg.a.36517  0.63
2014 Johnston JJ, Sapp JC, Curry C, Horton M, Leon E, Cusmano-Ozog K, Dobyns WB, Hudgins L, Zackai E, Biesecker LG. Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism. American Journal of Medical Genetics. Part A. 164: 120-8. PMID 24259342 DOI: 10.1002/ajmg.a.36212  0.36
2014 Cacciagli P, Desvignes JP, Girard N, Delepine M, Zelenika D, Lathrop M, Lévy N, Ledbetter DH, Dobyns WB, Villard L. AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). European Journal of Human Genetics : Ejhg. 22: 363-8. PMID 23756445 DOI: 10.1038/Ejhg.2013.135  0.39
2013 Shiba N, Daza RA, Shaffer LG, Barkovich AJ, Dobyns WB, Hevner RF. Neuropathology of brain and spinal malformations in a case of monosomy 1p36. Acta Neuropathologica Communications. 1: 45. PMID 24252393 DOI: 10.1186/2051-5960-1-45  0.302
2013 Tully HM, Dempsey JC, Ishak GE, Adam MP, Mink JW, Dobyns WB, Gospe SM, Weiss A, Phillips JO, Doherty D. Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis. Movement Disorders : Official Journal of the Movement Disorder Society. 28: 2019-23. PMID 24105968 DOI: 10.1002/Mds.25634  0.541
2013 Sajan SA, Fernandez L, Nieh SE, Rider E, Bukshpun P, Wakahiro M, Christian SL, Rivière JB, Sullivan CT, Sudi J, Herriges MJ, Paciorkowski AR, Barkovich AJ, Glessner JT, Millen KJ, ... ... Dobyns WB, et al. Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. Plos Genetics. 9: e1003823. PMID 24098143 DOI: 10.1371/Journal.Pgen.1003823  0.657
2013 Conti V, Carabalona A, Pallesi-Pocachard E, Parrini E, Leventer RJ, Buhler E, McGillivray G, Michel FJ, Striano P, Mei D, Watrin F, Lise S, Pagnamenta AT, Taylor JC, Kini U, ... ... Dobyns WB, et al. Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. Brain : a Journal of Neurology. 136: 3378-94. PMID 24056535 DOI: 10.1093/Brain/Awt249  0.418
2013 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 American Journal of Medical Genetics, Part A. 161: 2420-2430. PMID 23918763 DOI: 10.1002/ajmg.a.36098  0.4
2013 Curry CJ, Rosenfeld JA, Grant E, Gripp KW, Anderson C, Aylsworth AS, Saad TB, Chizhikov VV, Dybose G, Fagerberg C, Falco M, Fels C, Fichera M, Graakjaer J, Greco D, ... ... Dobyns WB, et al. The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes. American Journal of Medical Genetics. Part A. 161: 1833-52. PMID 23813913 DOI: 10.1002/Ajmg.A.35996  0.426
2013 Paciorkowski AR, Keppler-Noreuil K, Robinson L, Sullivan C, Sajan S, Christian SL, Bukshpun P, Gabriel SB, Gleeson JG, Sherr EH, Dobyns WB. Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption. American Journal of Medical Genetics. Part A. 161: 1523-30. PMID 23704059 DOI: 10.1002/Ajmg.A.35969  0.61
2013 Darbro BW, Mahajan VB, Gakhar L, Skeie JM, Campbell E, Wu S, Bing X, Millen KJ, Dobyns WB, Kessler JA, Jalali A, Cremer J, Segre A, Manak JR, Aldinger KA, et al. Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles. Human Mutation. 34: 1075-9. PMID 23674478 DOI: 10.1002/Humu.22351  0.634
2013 Mirzaa GM, Rivière JB, Dobyns WB. Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 163: 122-130. PMID 23592320 DOI: 10.1002/ajmg.c.31361  0.378
2013 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, et al. CDKL5 and ARX mutations in males with early-onset epilepsy. Pediatric Neurology. 48: 367-77. PMID 23583054 DOI: 10.1016/J.Pediatrneurol.2012.12.030  0.312
2013 McDonell LM, Mirzaa GM, Alcantara D, Schwartzentruber J, Carter MT, Lee LJ, Clericuzio CL, Graham JM, Morris-Rosendahl DJ, Polster T, Acsadi G, Townshend S, Williams S, Halbert A, Isidor B, ... ... Dobyns WB, et al. Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. Nature Genetics. 45: 556-62. PMID 23542699 DOI: 10.1038/Ng.2602  0.371
2013 Radmanesh F, Caglayan AO, Silhavy JL, Yilmaz C, Cantagrel V, Omar T, Rosti B, Kaymakcalan H, Gabriel S, Li M, Sestan N, Bilguvar K, Dobyns WB, Zaki MS, Gunel M, et al. Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. American Journal of Human Genetics. 92: 468-74. PMID 23472759 DOI: 10.1016/J.Ajhg.2013.02.005  0.615
2013 Stevens E, Carss KJ, Cirak S, Foley AR, Torelli S, Willer T, Tambunan DE, Yau S, Brodd L, Sewry CA, Feng L, Haliloglu G, Orhan D, Dobyns WB, Enns GM, et al. Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan. American Journal of Human Genetics. 92: 354-65. PMID 23453667 DOI: 10.1016/J.Ajhg.2013.01.016  0.333
2013 Cushion TD, Dobyns WB, Mullins JGL, Stoodley N, Chung SK, Fry AE, Hehr U, Gunny R, Aylsworth AS, Prabhakar P, Uyanik G, Rankin J, Rees MI, Pilz DT. Overlapping cortical malformations and mutations in TUBB2B and TUBA1A Brain. 136: 536-548. PMID 23361065 DOI: 10.1093/brain/aws338  0.404
2013 Rush ET, Adam MP, Clark RD, Curry C, Hartmann JE, Dobyns WB, Olney AH. Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria. American Journal of Medical Genetics. Part A. 161: 320-6. PMID 23292994 DOI: 10.1002/Ajmg.A.35817  0.408
2013 Aldinger KA, Kogan J, Kimonis V, Fernandez B, Horn D, Klopocki E, Chung B, Toutain A, Weksberg R, Millen KJ, Barkovich AJ, Dobyns WB. Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion. American Journal of Medical Genetics. Part A. 161: 131-6. PMID 23225497 DOI: 10.1002/Ajmg.A.35700  0.659
2013 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, ... ... Dobyns WB, et al. Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability. Human Mutation. 34: 237-47. PMID 23033313 DOI: 10.1002/humu.22224  0.432
2012 Traylor RN, Dobyns WB, Rosenfeld JA, Wheeler P, Spence JE, Bandholz AM, Bawle EV, Carmany EP, Powell CM, Hudson B, Schultz RA, Shaffer LG, Ballif BC. Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions. Molecular Syndromology. 3: 102-112. PMID 23112752 DOI: 10.1159/000342008  0.358
2012 Tully HM, Dempsey JC, Ishak GE, Adam MP, Curry CJ, Sanchez-Lara P, Hunter A, Gripp KW, Allanson J, Cunniff C, Glass I, Millen KJ, Doherty D, Dobyns WB. Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis. American Journal of Medical Genetics. Part A. 158: 2393-406. PMID 22965664 DOI: 10.1002/Ajmg.A.35561  0.651
2012 Pisano T, Barkovich AJ, Leventer RJ, Squier W, Scheffer IE, Parrini E, Blaser S, Marini C, Robertson S, Tortorella G, Rosenow F, Thomas P, McGillivray G, Andermann E, Andermann F, ... ... Dobyns WB, et al. Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis. Neurology. 79: 1244-51. PMID 22914838 DOI: 10.1212/WNL.0b013e31826aac88  0.393
2012 Zaki MS, Saleem SN, Dobyns WB, Barkovich AJ, Bartsch H, Dale AM, Ashtari M, Akizu N, Gleeson JG, Grijalvo-Perez AM. Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation. Brain : a Journal of Neurology. 135: 2416-27. PMID 22822038 DOI: 10.1093/Brain/Aws162  0.52
2012 Rivière JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, ... ... Dobyns WB, et al. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nature Genetics. 44: 934-40. PMID 22729224 DOI: 10.1038/Ng.2331  0.463
2012 Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, de Bernabe DB, Venzke D, Cirak S, Schachter H, Vajsar J, Voit T, Muntoni F, Loder AS, Dobyns WB, Winder TL, Strahl S, et al. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nature Genetics. 44: 575-80. PMID 22522420 DOI: 10.1038/Ng.2252  0.475
2012 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. Brain : a Journal of Neurology. 135: 1370-86. PMID 22451504 DOI: 10.1093/Brain/Aws065  0.67
2012 Rivière JB, van Bon BW, Hoischen A, Kholmanskikh SS, O'Roak BJ, Gilissen C, Gijsen S, Sullivan CT, Christian SL, Abdul-Rahman OA, Atkin JF, Chassaing N, Drouin-Garraud V, Fry AE, Fryns JP, ... ... Dobyns WB, et al. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nature Genetics. 44: 440-4, S1-2. PMID 22366783 DOI: 10.1038/Ng.1091  0.508
2012 Mirzaa GM, Conway RL, Gripp KW, Lerman-Sagie T, Siegel DH, deVries LS, Lev D, Kramer N, Hopkins E, Graham JM, Dobyns WB. Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis American Journal of Medical Genetics, Part A. 158: 269-291. PMID 22228622 DOI: 10.1002/Ajmg.A.34402  0.434
2011 Paciorkowski AR, Thio LL, Dobyns WB. Genetic and biologic classification of infantile spasms Pediatric Neurology. 45: 355-367. PMID 22114996 DOI: 10.1016/j.pediatrneurol.2011.08.010  0.318
2011 Zaki MS, Salam GM, Saleem SN, Dobyns WB, Issa MY, Sattar S, Gleeson JG. New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect. American Journal of Medical Genetics. Part A. 155: 3035-41. PMID 22002884 DOI: 10.1002/Ajmg.A.34078  0.542
2011 Moog U, Kutsche K, Kortüm F, Chilian B, Bierhals T, Apeshiotis N, Balg S, Chassaing N, Coubes C, Das S, Engels H, Van Esch H, Grasshoff U, Heise M, Isidor B, ... ... Dobyns WB, et al. Phenotypic spectrum associated with CASK loss-of-function mutations. Journal of Medical Genetics. 48: 741-51. PMID 21954287 DOI: 10.1136/Jmedgenet-2011-100218  0.434
2011 Gripp KW, Hopkins E, Johnston JJ, Krause C, Dobyns WB, Biesecker LG. Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene American Journal of Medical Genetics, Part A. 155: 2516-2520. PMID 21910224 DOI: 10.1002/ajmg.a.34190  0.369
2011 Mirzaa GM, Paciorkowski AR, Smyser CD, Willing MC, Lind AC, Dobyns WB. The microcephaly-capillary malformation syndrome American Journal of Medical Genetics, Part A. 155: 2080-2087. PMID 21815250 DOI: 10.1002/ajmg.a.34118  0.309
2011 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. American Journal of Medical Genetics. Part A. 155: 1865-76. PMID 21739582 DOI: 10.1002/Ajmg.A.34081  0.367
2011 Labelle-Dumais C, Dilworth DJ, Harrington EP, de Leau M, Lyons D, Kabaeva Z, Manzini MC, Dobyns WB, Walsh CA, Michele DE, Gould DB. COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. Plos Genetics. 7: e1002062. PMID 21625620 DOI: 10.1371/Journal.Pgen.1002062  0.474
2011 Bem D, Yoshimura S, Nunes-Bastos R, Bond FC, Bond FF, Kurian MA, Rahman F, Handley MT, Hadzhiev Y, Masood I, Straatman-Iwanowska AA, Cullinane AR, McNeill A, Pasha SS, Kirby GA, ... ... Dobyns WB, et al. Loss-of-function mutations in RAB18 cause Warburg micro syndrome. American Journal of Human Genetics. 88: 499-507. PMID 21473985 DOI: 10.1016/J.Ajhg.2011.03.012  0.489
2011 Kortüm F, Das S, Flindt M, Morris-Rosendahl DJ, Stefanova I, Goldstein A, Horn D, Klopocki E, Kluger G, Martin P, Rauch A, Roumer A, Saitta S, Walsh LE, Wieczorek D, ... ... Dobyns WB, et al. The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. Journal of Medical Genetics. 48: 396-406. PMID 21441262 DOI: 10.1136/Jmg.2010.087528  0.528
2011 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 American Journal of Medical Genetics, Part A. 155: 892-897. PMID 21416597 DOI: 10.1002/ajmg.a.33923  0.367
2011 Hanna RM, Marsh SE, Swistun D, Al-Gazali L, Zaki MS, Abdel-Salam GM, Al-Tawari A, Bastaki L, Kayserili H, Rajab A, Boglárka B, Dietrich RB, Dobyns WB, Truwit CL, Sattar S, et al. Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families. Neurology. 76: 373-82. PMID 21263138 DOI: 10.1212/Wnl.0B013E318208F492  0.591
2011 Namavar Y, Barth PG, Kasher PR, van Ruissen F, Brockmann K, Bernert G, Writzl K, Ventura K, Cheng EY, Ferriero DM, Basel-Vanagaite L, Eggens VR, Krägeloh-Mann I, De Meirleir L, King M, ... ... Dobyns WB, et al. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain : a Journal of Neurology. 134: 143-56. PMID 20952379 DOI: 10.1093/Brain/Awq287  0.476
2010 Oegema R, de Klein A, Verkerk AJ, Schot R, Dumee B, Douben H, Eussen B, Dubbel L, Poddighe PJ, van der Laar I, Dobyns WB, van der Spek PJ, Lequin MH, de Coo IF, de Wit MC, et al. Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A. Molecular Syndromology. 1: 113-120. PMID 21031080 DOI: 10.1159/000320113  0.449
2010 Basel-Vanagaite L, Raas-Rotchild A, Kornreich L, Har-Zahav A, Yeshaya J, Latarowski V, Lerer I, Dobyns WB, Shohat M. Familial hydrocephalus with normal cognition and distinctive radiological features American Journal of Medical Genetics, Part A. 152: 2743-2748. PMID 20979187 DOI: 10.1002/Ajmg.A.33688  0.409
2010 Kaufmann R, Straussberg R, Mandel H, Fattal-Valevski A, Ben-Zeev B, Naamati A, Shaag A, Zenvirt S, Konen O, Mimouni-Bloch A, Dobyns WB, Edvardson S, Pines O, Elpeleg O. Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex American Journal of Human Genetics. 87: 667-670. PMID 20950787 DOI: 10.1016/J.Ajhg.2010.09.016  0.506
2010 Reese J, Aldinger KA, Dobyns WB, Gripp KW. X-linked hereditary hemihypotrophy hemiparesis hemiathetosis. American Journal of Medical Genetics. Part A. 152: 2727-30. PMID 20949603 DOI: 10.1002/Ajmg.A.33545  0.35
2010 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, et al. WDR62 is associated with the spindle pole and is mutated in human microcephaly. Nature Genetics. 42: 1010-4. PMID 20890279 DOI: 10.1038/Ng.682  0.434
2010 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. 42: 1015-20. PMID 20890278 DOI: 10.1038/Ng.683  0.382
2010 Graham JM, 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. 152: 2268-76. PMID 20803644 DOI: 10.1002/Ajmg.A.33579  0.468
2010 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, et al. 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. 87: 354-64. PMID 20727516 DOI: 10.1016/J.Ajhg.2010.07.012  0.494
2010 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. 152: 2145-59. PMID 20683985 DOI: 10.1002/Ajmg.A.33558  0.43
2010 Basel-Vanagaite L, Dobyns WB. Clinical and Brain Imaging Heterogeneity of Severe Microcephaly Pediatric Neurology. 43: 7-16. PMID 20682196 DOI: 10.1016/J.Pediatrneurol.2010.02.015  0.39
2010 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, ... ... Dobyns WB, et al. SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell. 142: 203-17. PMID 20637498 DOI: 10.1016/J.Cell.2010.06.001  0.574
2010 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. 152: 2079-2084. PMID 20635367 DOI: 10.1002/Ajmg.A.33531  0.442
2010 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. 152: 1621-1626. PMID 20583147 DOI: 10.1002/Ajmg.A.33200  0.419
2010 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. 18: 1216-1220. PMID 20571508 DOI: 10.1038/Ejhg.2010.96  0.372
2010 Verkerk AJMH, Schot R, Van Waterschoot L, Douben H, Poddighe PJ, Lequin MH, De Vries LS, Terhal P, Hahnemann JMD, De Coo IFM, De Wit MCY, Wafelman LS, Garavelli L, Dobyns WB, Van Der Spek PJ, et al. Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus American Journal of Medical Genetics, Part A. 152: 1488-1497. PMID 20503325 DOI: 10.1002/Ajmg.A.33408  0.388
2010 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. 19: 2817-27. PMID 20466733 DOI: 10.1093/Hmg/Ddq182  0.466
2010 Gripp KW, Hopkins E, Doyle D, Dobyns WB. High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: Brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities American Journal of Medical Genetics, Part A. 152: 1161-1168. PMID 20425820 DOI: 10.1002/Ajmg.A.33391  0.44
2010 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. 133: 1415-1427. PMID 20403963 DOI: 10.1093/Brain/Awq078  0.353
2010 Dobyns WB. The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia: Malformations of cortical development - Genetics Epilepsia. 51: 5-9. PMID 20331703 DOI: 10.1111/J.1528-1167.2009.02433.X  0.302
2010 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. 169: 475-481. PMID 19838731 DOI: 10.1007/S00431-009-1061-6  0.429
2010 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. 25: 738-741. PMID 19808989 DOI: 10.1177/0883073809343312  0.437
2010 Doherty D, Parisi MA, Finn LS, Gunay-Aygun M, Al-Mateen M, Bates D, Clericuzio C, Demir H, Dorschner M, van Essen AJ, Gahl WA, Gentile M, Gorden NT, Hikida A, Knutzen D, ... ... Dobyns WB, et al. Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). Journal of Medical Genetics. 47: 8-21. PMID 19574260 DOI: 10.1136/Jmg.2009.067249  0.471
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. 47: 81-90. PMID 19546099 DOI: 10.1136/Jmg.2008.065821  0.426
2010 Barkovich AJ, Dobyns WB, Millen KJ. Letter to the editor: Reply: Sagging and swelling of the midbrain suggest spontaneous intracranial hypotension rather than a malformation Brain. 133: e149. DOI: 10.1093/brain/awq031  0.548
2010 Aldinger K, Blank M, Lehmann O, Dobyns W, Millen K. [S7.3]: Cerebellar malformations in mice and humans illuminate novel developmental principles International Journal of Developmental Neuroscience. 28: 651-651. DOI: 10.1016/J.Ijdevneu.2010.07.036  0.575
2009 Babatz TD, Kumar RA, Sudi J, Dobyns WB, Christian SL. Copy number and sequence variants implicate APBA2 as an autism candidate gene Autism Research. 2: 359-364. PMID 20029827 DOI: 10.1002/Aur.107  0.448
2009 Barkovich AJ, Millen KJ, Dobyns WB. A developmental and genetic classification for midbrain-hindbrain malformations. Brain : a Journal of Neurology. 132: 3199-230. PMID 19933510 DOI: 10.1093/Brain/Awp247  0.654
2009 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. 41: 1037-42. PMID 19668217 DOI: 10.1038/Ng.422  0.705
2009 Marsh E, Fulp C, Gomez E, Nasrallah I, Minarcik J, Sudi J, Christian SL, Mancini G, Labosky P, Dobyns W, Brooks-Kayal A, Golden JA. Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females. Brain : a Journal of Neurology. 132: 1563-76. PMID 19439424 DOI: 10.1093/Brain/Awp107  0.448
2009 Solomon BD, Lacbawan F, Jain M, Domene 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. 149: 919-925. PMID 19353631 DOI: 10.1002/Ajmg.A.32813  0.483
2009 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. 149: 868-876. PMID 19353582 DOI: 10.1002/Ajmg.A.32732  0.449
2009 Lacbawan F, Solomon BD, Roessler E, El-Jaick K, Domené S, Vélez JI, Zhou N, Hadley D, Balog JZ, Long R, Fryer A, Smith W, Omar S, McLean SD, Clarkson K, ... ... Dobyns WB, et al. Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. Journal of Medical Genetics. 46: 389-98. PMID 19346217 DOI: 10.1136/Jmg.2008.063818  0.485
2009 Kumar RA, Marshall CR, Badner JA, Babatz TD, Mukamel Z, Aldinger KA, Sudi J, Brune CW, Goh G, Karamohamed S, Sutcliffe JS, Cook EH, Geschwind DH, Dobyns WB, Scherer SW, et al. Association and mutation analyses of 16p11.2 autism candidate genes. Plos One. 4: e4582. PMID 19242545 DOI: 10.1371/Journal.Pone.0004582  0.431
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. 149: 129-37. PMID 19161147 DOI: 10.1002/Ajmg.A.32630  0.447
2009 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. 17: 911-8. PMID 19050731 DOI: 10.1038/Ejhg.2008.213  0.385
2009 Nicholas AK, Swanson EA, Cox JJ, Karbani G, Malik S, Springell K, Hampshire D, Ahmed M, Bond J, Di Benedetto D, Fichera M, Romano C, Dobyns WB, Woods CG. The molecular landscape of ASPM mutations in primary microcephaly. Journal of Medical Genetics. 46: 249-53. PMID 19028728 DOI: 10.1136/Jmg.2008.062380  0.456
2009 Shrimpton AE, Kessler JA, Shaffer LG, Stack C, Jalali A, Little R, Goldstein J, Angle B, Chary A, Coppinger J, Mathison DJ, Khan S, Poznanski AK, Dobyns WB, Craig DW, et al. Variability of epilepsy, autism, brachydactyly, and other clinical features in familial and sporadic 2q37.3 deletion Journal of Pediatric Neurology. 7: 279-283. DOI: 10.3233/Jpn-2009-0312  0.4
2009 Manzini M, Gleason D, Chang B, Hill R, Partlow J, Barry B, Poduri A, Basel-Vanagaite L, Seidhamed M, Salih M, Dobyns W, Walsh C. EM.P.2.04 Unraveling the genetic complexity of alpha-dystroglycanopathies: Ethnically diverse pathogenic mutations Neuromuscular Disorders. 19: 552-553. DOI: 10.1016/J.Nmd.2009.06.033  0.33
2008 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, et al. Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nature Genetics. 40: 1065-7. PMID 19165920 DOI: 10.1038/Ng.194  0.485
2008 Briggs TA, Wolf NI, D'Arrigo S, Ebinger F, Harting I, Dobyns WB, Livingston JH, Rice GI, Crooks D, Rowland-Hill CA, Squier W, Stoodley N, Pilz DT, Crow YJ. Band-like intracranial calcification with simplified gyration and polymicrogyria: A distinct "pseudo-TORCH" phenotype American Journal of Medical Genetics, Part A. 146: 3173-3180. PMID 19012351 DOI: 10.1002/Ajmg.A.32614  0.377
2008 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, et al. Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. Human Mutation. 29: E231-41. PMID 18752264 DOI: 10.1002/Humu.20844  0.486
2008 Van Maldergem L, Yuksel-Apak M, Kayserili H, Seemanova E, Giurgea S, Basel-Vanagaite L, Leao-Teles E, Vigneron J, Foulon M, Greally M, Jaeken J, Mundlos S, Dobyns WB. Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type. Neurology. 71: 1602-8. PMID 18716235 DOI: 10.1212/01.Wnl.0000327822.52212.C7  0.452
2008 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. 17: 3446-58. PMID 18694899 DOI: 10.1093/Hmg/Ddn238  0.351
2008 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, et al. Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. American Journal of Human Genetics. 83: 170-9. PMID 18674751 DOI: 10.1016/J.Ajhg.2008.06.023  0.628
2008 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. 146: 1142-50. PMID 18409201 DOI: 10.1002/Ajmg.A.32264  0.483
2008 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, et al. Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biological Psychiatry. 63: 1111-7. PMID 18374305 DOI: 10.1016/J.Biopsych.2008.01.009  0.388
2008 Zaki MS, Abdel-Aleem A, Abdel-Salam G, Marsh SE, Silhavy JL, Barkovich AJ, Ross ME, Saleem SN, Dobyns WB, Gleeson JG. The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families. Neurology. 70: 556-65. PMID 18268248 DOI: 10.1212/01.Wnl.0000277644.12087.Fd  0.619
2008 Guerrini R, Dobyns WB, Barkovich AJ. Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options Trends in Neurosciences. 31: 154-162. PMID 18262290 DOI: 10.1016/J.Tins.2007.12.004  0.341
2008 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, et al. Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity. Human Genetics. 123: 237-45. PMID 18204864 DOI: 10.1007/S00439-008-0467-Y  0.65
2008 Kumar RA, KaraMohamed S, Sudi J, Conrad DF, Brune C, Badner JA, Gilliam TC, Nowak NJ, Cook EH, Dobyns WB, Christian SL. Recurrent 16p11.2 microdeletions in autism. Human Molecular Genetics. 17: 628-38. PMID 18156158 DOI: 10.1093/Hmg/Ddm376  0.361
2007 Garavelli L, Guareschi E, Errico S, Simoni A, Bergonzini P, Zollino M, Gurrieri F, Mancini GM, Schot R, Van Der Spek PJ, Frigieri G, Zonari P, Albertini E, Della Giustina E, Amarri S, ... ... Dobyns WB, et al. Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): Report of a new case Neuropediatrics. 38: 200-203. PMID 18058629 DOI: 10.1055/S-2007-985908  0.389
2007 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. 143: 2963-2972. PMID 18000987 DOI: 10.1002/Ajmg.A.32074  0.414
2007 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, et al. Neuroimaging findings in Macrocephaly-Capillary Malformation: A longitudinal study of 17 patients American Journal of Medical Genetics, Part A. 143: 2981-3008. PMID 18000912 DOI: 10.1002/Ajmg.A.32040  0.413
2007 Barkovich AJ, Millen KJ, Dobyns WB. A developmental classification of malformations of the brainstem. Annals of Neurology. 62: 625-39. PMID 17924529 DOI: 10.1002/Ana.21239  0.65
2007 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. 81: 292-303. PMID 17668379 DOI: 10.1086/519999  0.633
2007 Guerrini R, Moro F, Kato M, Barkovich AJ, Shiihara T, McShane MA, Hurst J, Loi M, Tohyama J, Norci V, Hayasaka K, Kang UJ, Das S, Dobyns WB. Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. Neurology. 69: 427-33. PMID 17664401 DOI: 10.1212/01.Wnl.0000266594.16202.C1  0.487
2007 O'Driscoll M, Dobyns WB, van Hagen JM, Jeggo PA. Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling. American Journal of Human Genetics. 81: 77-86. PMID 17564965 DOI: 10.1086/518696  0.391
2007 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. 143: 939-44. PMID 17431900 DOI: 10.1002/Ajmg.A.31667  0.632
2007 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, et al. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. Brain : a Journal of Neurology. 130: 828-35. PMID 17282997 DOI: 10.1093/Brain/Awl340  0.459
2007 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. 28: 356-64. PMID 17191205 DOI: 10.1002/Humu.20450  0.442
2007 Kumar RA, Leach S, Bonaguro R, Chen J, Yokom DW, Abrahams BS, Seaver L, Schwartz CE, Dobyns W, Brooks-Wilson A, Simpson EM. Mutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformations. Genes, Brain, and Behavior. 6: 503-16. PMID 17054721 DOI: 10.1111/J.1601-183X.2006.00277.X  0.452
2006 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, ... ... Dobyns WB, et al. Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation. American Journal of Medical Genetics. Part A. 140: 2416-25. PMID 17036343 DOI: 10.1002/Ajmg.A.31443  0.463
2006 Dobyns WB. The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked Acta Paediatrica, International Journal of Paediatrics. 95: 11-15. PMID 16720459 DOI: 10.1080/08035320600618759  0.333
2006 Martin RD, Maclarnon AM, Phillips JL, Dussubieux L, Williams PR, Dobyns WB. Comment on "The Brain of LB1, Homo floresiensis". Science (New York, N.Y.). 312: 999; author reply 99. PMID 16709768 DOI: 10.1126/Science.1121144  0.326
2006 Parrini E, Ramazzotti A, Dobyns WB, Mei D, Moro F, Veggiotti P, Marini C, Brilstra EH, Dalla Bernardina B, Goodwin L, Bodell A, Jones MC, Nangeroni M, Palmeri S, Said E, et al. Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. Brain : a Journal of Neurology. 129: 1892-906. PMID 16684786 DOI: 10.1093/brain/awl125  0.397
2006 Tsao JW, Neal J, Apse K, Stephan MJ, Dobyns WB, Hill RS, Walsh CA, Sheen VL. Cerebellar ataxia with progressive improvement. Archives of Neurology. 63: 594-7. PMID 16606775 DOI: 10.1001/Archneur.63.4.594  0.353
2006 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, et al. AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Annals of Neurology. 59: 527-34. PMID 16453322 DOI: 10.1002/Ana.20749  0.652
2006 Parisi MA, Doherty D, Eckert ML, Shaw DW, Ozyurek H, Aysun S, Giray O, Al Swaid A, Al Shahwan S, Dohayan N, Bakhsh E, Indridason OS, Dobyns WB, Bennett CL, Chance PF, et al. AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. Journal of Medical Genetics. 43: 334-9. PMID 16155189 DOI: 10.1136/Jmg.2005.036608  0.485
2005 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. 128: 2811-2821. PMID 16311271 DOI: 10.1093/Brain/Awh658  0.444
2005 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. 58: 680-7. PMID 16240336 DOI: 10.1002/Ana.20616  0.516
2005 Forman MS, Squier W, Dobyns WB, Golden JA. Genotypically defined lissencephalies show distinct pathologies. Journal of Neuropathology and Experimental Neurology. 64: 847-57. PMID 16215456 DOI: 10.1097/01.Jnen.0000182978.56612.41  0.489
2005 Barkovich AJ, Kuzniecky RI, Jackson GD, Guerrini R, Dobyns WB. A developmental and genetic classification for malformations of cortical development. Neurology. 65: 1873-87. PMID 16192428 DOI: 10.1212/01.Wnl.0000183747.05269.2D  0.396
2005 Gilbert SL, Dobyns WB, Lahn BT. Genetic links between brain development and brain evolution. Nature Reviews. Genetics. 6: 581-90. PMID 15951746 DOI: 10.1038/Nrg1634  0.351
2005 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. 20: 392-397. PMID 15921244 DOI: 10.1177/08830738050200042001  0.442
2005 Pancoast M, Dobyns W, Golden JA. Interneuron deficits in patients with the Miller-Dieker syndrome. Acta Neuropathologica. 109: 400-4. PMID 15739099 DOI: 10.1007/S00401-004-0979-Z  0.413
2005 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, ... ... Dobyns WB, et al. Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nature Genetics. 37: 221-3. PMID 15696165 DOI: 10.1038/Ng1517  0.45
2005 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. 133: 53-7. PMID 15637732 DOI: 10.1002/Ajmg.A.30487  0.449
2004 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. 8: 151-5. PMID 15771552 DOI: 10.1007/Bf03260058  0.451
2004 Mirzaa G, Dodge NN, Glass I, Day C, Gripp K, Nicholson L, Straub V, Voit T, Dobyns WB. Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures. Neuropediatrics. 35: 353-9. PMID 15627943 DOI: 10.1055/S-2004-830497  0.439
2004 Diesen C, Saarinen A, Pihko H, Rosenlew C, Cormand B, Dobyns WB, Dieguez J, Valanne L, Joensuu T, Lehesjoki AE. POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. Journal of Medical Genetics. 41: e115. PMID 15466003 DOI: 10.1136/Jmg.2004.020701  0.346
2004 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. 36: 1053-5. PMID 15338008 DOI: 10.1038/Ng1420  0.66
2004 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. 129: 136-43. PMID 15316978 DOI: 10.1002/Ajmg.A.30123  0.33
2004 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. 43: 169-75. PMID 15260953 DOI: 10.1016/J.Neuron.2004.06.028  0.383
2004 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. 19: 845-7. PMID 15254951 DOI: 10.1002/Mds.20095  0.394
2004 Guerrini R, Mei D, Sisodiya S, Sicca F, Harding B, Takahashi Y, Dorn T, Yoshida A, Campistol J, Krämer G, Moro F, Dobyns WB, Parrini E. Germline and mosaic mutations of FLN1 in men with periventricular heterotopia Neurology. 63: 51-56. PMID 15249610 DOI: 10.1212/01.Wnl.0000132818.84827.4D  0.463
2004 Graham JM, Hennekam R, Dobyns WB, Roeder E, Busch D. MICRO syndrome: An entity distinct from COFS syndrome American Journal of Medical Genetics. 128: 235-245. PMID 15216543 DOI: 10.1002/Ajmg.A.30060  0.425
2004 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. 75: 82-91. PMID 15138899 DOI: 10.1086/421846  0.613
2004 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, et al. G protein-coupled receptor-dependent development of human frontal cortex. Science (New York, N.Y.). 303: 2033-6. PMID 15044805 DOI: 10.1126/Science.1092780  0.335
2004 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. 125: 293-8. PMID 14994240 DOI: 10.1002/Ajmg.A.20455  0.352
2004 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. 125: 125-34; discussion 1. PMID 14981712 DOI: 10.1002/Ajmg.A.20437  0.609
2004 Stevens CA, Dobyns WB. Septo-Optic Dysplasia and Amniotic Bands: Further Evidence for a Vascular Pathogenesis American Journal of Medical Genetics. 125: 12-16. PMID 14755460 DOI: 10.1002/Ajmg.A.20417  0.385
2004 Kato M, Das S, Petras K, Kitamura K, Morohashi KI, Abuelo DN, Barr M, Bonneau D, Brady AF, Carpenter NJ, Cipero KL, Frisone F, Fukuda T, Guerrini R, Iida E, ... ... Dobyns WB, et al. Mutations of ARX Are Associated with Striking Pleiotropy and Consistent Genotype-Phenotype Correlation Human Mutation. 23: 147-159. PMID 14722918 DOI: 10.1002/Humu.10310  0.498
2004 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. 124: 202-8. PMID 14699622 DOI: 10.1002/Ajmg.A.20377  0.346
2003 Leeflang EP, Marsh SE, Parrini E, Moro F, Pilz D, Dobyns WB, Guerrini R, Wheless JW, Gleeson JG. Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes. Journal of Medical Genetics. 40: e128. PMID 14684696 DOI: 10.1136/Jmg.40.12.E128  0.558
2003 Rossi M, Guerrini R, Dobyns WB, Andria G, Winter RM. Characterization of Brain Malformations in the Baraitser-Winter Syndrome and Review of the Literature Neuropediatrics. 34: 287-292. PMID 14681753 DOI: 10.1055/S-2003-44666  0.42
2003 de Bernabé DB, van Bokhoven H, van Beusekom E, Van den Akker W, Kant S, Dobyns WB, Cormand B, Currier S, Hamel B, Talim B, Topaloglu H, Brunner HG. A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. Journal of Medical Genetics. 40: 845-8. PMID 14627679 DOI: 10.1136/Jmg.40.11.845  0.452
2003 Sicca F, Kelemen A, Genton P, Das S, Mei D, Moro F, Dobyns WB, Guerrini R. Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. Neurology. 61: 1042-6. PMID 14581661 DOI: 10.1212/Wnl.61.8.1042  0.459
2003 Parisi MA, Dobyns WB. Human malformations of the midbrain and hindbrain: review and proposed classification scheme. Molecular Genetics and Metabolism. 80: 36-53. PMID 14567956 DOI: 10.1016/J.Ymgme.2003.08.010  0.439
2003 Toriello HV, Carey JC, Addor MC, Allen W, Burke L, Chun N, Dobyns W, Elias E, Gallagher R, Hordijk R, Hoyme G, Irons M, Jewett T, LeMerrer M, Lubinsky M, et al. Toriello-Carey syndrome: delineation and review. American Journal of Medical Genetics. Part A. 123: 84-90. PMID 14556252 DOI: 10.1002/Ajmg.A.20493  0.371
2003 Kato M, Das S, Petras K, Sawaishi Y, Dobyns WB. Polyalanine expansion of ARX associated with cryptogenic West syndrome Neurology. 61: 267-268. PMID 12874418 DOI: 10.1212/01.Wnl.0000068012.69928.92  0.476
2003 Zhang W, Vajsar J, Cao P, Breningstall G, Diesen C, Dobyns W, Herrmann R, Lehesjoki AE, Steinbrecher A, Talim B, Toda T, Topaloglu H, Voit T, Schachter H. Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents. Clinical Biochemistry. 36: 339-44. PMID 12849864 DOI: 10.1016/S0009-9120(03)00036-5  0.344
2003 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, ... ... Dobyns WB, et al. Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations. Annals of Neurology. 54: 30-7. PMID 12838518 DOI: 10.1002/Ana.10588  0.452
2003 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. 11: 527-34. PMID 12825074 DOI: 10.1038/Sj.Ejhg.5200995  0.627
2003 Philip N, Chabrol B, Lossi AM, Cardoso C, Guerrini R, Dobyns WB, Raybaud C, Villard L. Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia. Journal of Medical Genetics. 40: 441-6. PMID 12807966 DOI: 10.1136/Jmg.40.6.441  0.494
2003 Toyo-oka K, Shionoya A, Gambello MJ, Cardoso C, Leventer R, Ward HL, Ayala R, Tsai LH, Dobyns W, Ledbetter D, Hirotsune S, Wynshaw-Boris A. 14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome. Nature Genetics. 34: 274-85. PMID 12796778 DOI: 10.1038/Ng1169  0.404
2003 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. 53: 596-606. PMID 12730993 DOI: 10.1002/Ana.10520  0.467
2003 Kato M, Dobyns WB. Lissencephaly and the molecular basis of neuronal migration Human Molecular Genetics. 12: R89-R96. PMID 12668601 DOI: 10.1093/Hmg/Ddg086  0.434
2003 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. 72: 918-930. PMID 12621583 DOI: 10.1086/374320  0.424
2003 Barkovich AJ, Kuzniecky RI, Jackson GD, Guerrini R, Dobyns WB. Classification system for malformations of cortical development: update 2001. Neurology. 57: 2168-78. PMID 11785496 DOI: 10.1212/Wnl.57.12.2168  0.388
2002 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, ... ... Dobyns WB, et al. Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females. Brain : a Journal of Neurology. 125: 2507-22. PMID 12390976 DOI: 10.1093/Brain/Awf248  0.604
2002 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 SI, Kasahara M, Yoshioka H, Ogata T, ... ... Dobyns WB, et al. Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans Nature Genetics. 32: 359-369. PMID 12379852 DOI: 10.1038/Ng1009  0.471
2002 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, et al. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. American Journal of Human Genetics. 71: 1033-43. PMID 12369018 DOI: 10.1086/342975  0.474
2002 Martin CL, Waggoner DJ, Wong A, Uhrig S, Roseberry JA, Hedrick JF, Pack SD, Russell K, Zackai E, Dobyns WB, Ledbetter DH. "Molecular rulers" for calibrating phenotypic effects of telomere imbalance. Journal of Medical Genetics. 39: 734-40. PMID 12362030 DOI: 10.1136/Jmg.39.10.734  0.409
2002 Villard L, Nguyen K, Cardoso C, Martin CL, Weiss AM, Sifry-Platt M, Grix AW, Graham JM, Winter RM, Leventer RJ, Dobyns WB. A locus for bilateral perisylvian polymicrogyria maps to Xq28. American Journal of Human Genetics. 70: 1003-8. PMID 11822025 DOI: 10.1086/339433  0.429
2002 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. 19: 4-15. PMID 11754098 DOI: 10.1002/Humu.10028  0.484
2002 Leventer RJ, Cardoso C, Ledbetter DH, Dobyns WB. LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ. Neurology. 57: 416-22. PMID 11502906 DOI: 10.1212/Wnl.57.3.416  0.476
2001 Ross ME, Swanson K, Dobyns WB. Lissencephaly with cerebellar hypoplasia (LCH): A heterogeneous group of cortical malformations Neuropediatrics. 32: 256-263. PMID 11748497 DOI: 10.1055/S-2001-19120  0.486
2001 Sheen VL, Dixon PH, Fox JW, Hong SE, Kinton L, Sisodiya SM, Duncan JS, Dubeau F, Scheffer IE, Schachter SC, Wilner A, Henchy R, Crino P, Kamuro K, DiMario F, ... ... Dobyns WB, et al. Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. Human Molecular Genetics. 10: 1775-83. PMID 11532987 DOI: 10.1093/Hmg/10.17.1775  0.386
2001 Leventer RJ, Cardoso C, Ledbetter DH, Dobyns WB. LIS1: from cortical malformation to essential protein of cellular dynamics. Trends in Neurosciences. 24: 489-92. PMID 11506866 DOI: 10.1016/S0166-2236(00)01887-7  0.332
2001 Demelas L, Serra G, Conti M, Achene A, Mastropaolo C, Matsumoto N, Dudlicek LL, Mills PL, Dobyns WB, Ledbetter DH, Das S. Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene. Neurology. 57: 327-30. PMID 11468322 DOI: 10.1212/Wnl.57.2.327  0.447
2001 Leventer RJ, Mills PL, Dobyns WB. X-linked malformations of cortical development. American Journal of Medical Genetics. 97: 213-20. PMID 11449490 DOI: 10.1002/1096-8628(200023)97:3<213::Aid-Ajmg1039>3.0.Co;2-W  0.446
2001 Cormand B, Pihko H, Bayés M, Valanne L, Santavuori P, Talim B, Gershoni-Baruch R, Ahmad A, van Bokhoven H, Brunner HG, Voit T, Topaloglu H, Dobyns WB, Lehesjoki AE. Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. Neurology. 56: 1059-69. PMID 11320179 DOI: 10.1212/Wnl.56.8.1059  0.44
2001 Barkovich AJ, Kuzniecky RI, Dobyns WB. Radiologic classification of malformations of cortical development. Current Opinion in Neurology. 14: 145-9. PMID 11262727 DOI: 10.1097/00019052-200104000-00002  0.412
2001 Matsumoto N, Leventer RJ, Kuc JA, Mewborn SK, Dudlicek LL, Ramocki MB, Pilz DT, Mills PL, Das S, Ross ME, Ledbetter DH, Dobyns WB. Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia. European Journal of Human Genetics : Ejhg. 9: 5-12. PMID 11175293 DOI: 10.1038/Sj.Ejhg.5200548  0.451
2001 Nassogne MC, Henrot B, Saint-Martin C, Kadhim H, Dobyns WB, Sébire G. Polymicrogyria and motor neuropathy in Micro syndrome. Neuropediatrics. 31: 218-21. PMID 11071150 DOI: 10.1055/S-2000-7463  0.366
2000 Cardoso C, Leventer RJ, Matsumoto N, Kuc JA, Ramocki MB, Mewborn SK, Dudlicek LL, May LF, Mills PL, Das S, Pilz DT, Dobyns WB, Ledbetter DH. The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene. Human Molecular Genetics. 9: 3019-28. PMID 11115846  0.366
2000 Poussaint TY, Fox JW, Dobyns WB, Radtke R, Scheffer IE, Berkovic SF, Barnes PD, Huttenlocher PR, Walsh CA. Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings. Pediatric Radiology. 30: 748-55. PMID 11100490 DOI: 10.1007/S002470000312  0.41
2000 Pavone L, Rizzo R, Pavone P, Curatolo P, Dobyns WB. Diffuse polymicrogyria associated with congenital hydrocephalus, craniosynostosis, severe mental retardation, and minor facial and genital anomalies. Journal of Child Neurology. 15: 493-5. PMID 10921525 DOI: 10.1177/088307380001500715  0.378
2000 Gleeson JG, Minnerath S, Kuzniecky RI, Dobyns WB, Young ID, Ross ME, Walsh CA. Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes. American Journal of Human Genetics. 67: 574-81. PMID 10915612 DOI: 10.1086/303043  0.616
2000 Leventer RJ, Pilz DT, Matsumoto N, Ledbetter DH, Dobyns WB. Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis. Molecular Medicine Today. 6: 277-84. PMID 10859564 DOI: 10.1016/S1357-4310(00)01730-5  0.422
2000 Sweeney KJ, Clark GD, Prokscha A, Dobyns WB, Eichele G. Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development. Mechanisms of Development. 92: 263-71. PMID 10727864 DOI: 10.1016/S0925-4773(00)00242-2  0.416
2000 Gleeson JG, Luo RF, Grant PE, Guerrini R, Huttenlocher PR, Berg MJ, Ricci S, Cusmai R, Wheless JW, Berkovic S, Scheffer I, Dobyns WB, Walsh CA. Genetic and neuroradiological heterogeneity of double cortex syndrome. Annals of Neurology. 47: 265-9. PMID 10665503 DOI: 10.1002/1531-8249(200002)47:2<265::Aid-Ana22>3.0.Co;2-N  0.616
2000 Guerreiro MM, Andermann E, Guerrini R, Dobyns WB, Kuzniecky R, Silver K, Van Bogaert P, Gillain C, David P, Ambrosetto G, Rosati A, Bartolomei F, Parmeggiani A, Paetau R, Salonen O, et al. Familial perisylvian polymicrogyria: A new familial syndrome of cortical maldevelopment Annals of Neurology. 48: 39-48. DOI: 10.1002/1531-8249(200007)48:1<39::Aid-Ana7>3.0.Co;2-X  0.38
1999 Kerner B, Graham JM, Golden JA, Pepkowitz SH, Dobyns WB. Familial lissencephaly with cleft palate and severe cerebellar hypoplasia American Journal of Medical Genetics. 87: 440-445. PMID 10594886 DOI: 10.1002/(SICI)1096-8628(19991222)87:5<440::AID-AJMG14>3.0.CO;2-#  0.463
1999 Schimmenti LA, Shim HH, Wirtschafter JD, Panzarino VA, Kashtan CE, Kirkpatrick SJ, Wargowski DS, France TD, Michel E, Dobyns WB. Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome. Human Mutation. 14: 369-76. PMID 10533062 DOI: 10.1002/(Sici)1098-1004(199911)14:5<369::Aid-Humu2>3.0.Co;2-E  0.464
1999 Chance PF, Cavalier L, Satran D, Pellegrino JE, Koenig M, Dobyns WB. Clinical nosologic and genetic aspects of Joubert and related syndromes. Journal of Child Neurology. 14: 660-6; discussion 66. PMID 10511339 DOI: 10.1177/088307389901401007  0.41
1999 Satran D, Pierpont ME, Dobyns WB. Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome. American Journal of Medical Genetics. 86: 459-69. PMID 10508989 DOI: 10.1002/(Sici)1096-8628(19991029)86:5<459::Aid-Ajmg12>3.0.Co;2-C  0.404
1999 Dobyns WB, Berry-Kravis E, Havernick NJ, Holden KR, Viskochil D. X-linked lissencephaly with absent corpus callosum and ambiguous genitalia. American Journal of Medical Genetics. 86: 331-7. PMID 10494089 DOI: 10.1002/(Sici)1096-8628(19991008)86:4<331::Aid-Ajmg7>3.0.Co;2-P  0.422
1999 Kramer PL, Mineta M, Klein C, Schilling K, de Leon D, Farlow MR, Breakefield XO, Bressman SB, Dobyns WB, Ozelius LJ, Brashear A. Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13. Annals of Neurology. 46: 176-82. PMID 10443882 DOI: 10.1002/1531-8249(199908)46:2<176::Aid-Ana6>3.0.Co;2-2  0.384
1999 Pilz DT, Kuc J, Matsumoto N, Bodurtha J, Bernadi B, Tassinari CA, Dobyns WB, Ledbetter DH. Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. Human Molecular Genetics. 8: 1757-60. PMID 10441340 DOI: 10.1093/Hmg/8.9.1757  0.447
1999 Dobyns WB, Truwit CL, Ross ME, Matsumoto N, Pilz DT, Ledbetter DH, Gleeson JG, Walsh CA, Barkovich AJ. Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. Neurology. 53: 270-7. PMID 10430413 DOI: 10.1212/Wnl.53.2.270  0.65
1999 Pollin TI, Dobyns WB, Crowe CA, Ledbetter DH, Bailey-Wilson JE, Smith ACM. Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3 American Journal of Medical Genetics. 85: 369-375. PMID 10398263 DOI: 10.1002/(Sici)1096-8628(19990806)85:4<369::Aid-Ajmg13>3.0.Co;2-L  0.333
1999 Peiffer A, Singh N, Leppert M, Dobyns WB, Carey JC. Microcephaly with simplified gyral pattern in six related children. American Journal of Medical Genetics. 84: 137-44. PMID 10323739 DOI: 10.1002/(Sici)1096-8628(19990521)84:2<137::Aid-Ajmg10>3.0.Co;2-J  0.392
1999 Gleeson JG, Minnerath SR, Fox JW, Allen KM, Luo RF, Hong SE, Berg MJ, Kuzniecky R, Reitnauer PJ, Borgatti R, Mira AP, Guerrini R, Holmes GL, Rooney CM, Berkovic S, ... ... Dobyns WB, et al. Characterization of mutations in the gene doublecortin in patients with double cortex syndrome. Annals of Neurology. 45: 146-53. PMID 9989615 DOI: 10.1002/1531-8249(199902)45:2<146::Aid-Ana3>3.0.Co;2-N  0.603
1999 Fox JW, Lamperti ED, Ekşioğlu YZ, Hong SE, Feng Y, Graham DA, Scheffer IE, Dobyns WB, Hirsch BA, Radtke RA, Berkovic SF, Huttenlocher PR, Walsh CA. Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron. 21: 1315-25. PMID 9883725 DOI: 10.1016/S0896-6273(00)80651-0  0.348
1999 Allanson JE, Ledbetter DH, Dobyns WB. Classical lissencephaly syndromes: does the face reflect the brain? Journal of Medical Genetics. 35: 920-3. PMID 9832039 DOI: 10.1136/Jmg.35.11.920  0.368
1999 Henrot B, Nassogne M, Saint-Martin C, Dobyns W, Sébire G. 279 Neurological features of Micro syndrome: Mental retardation, polymicrogyria and motor neuropathy European Journal of Paediatric Neurology. 3: A59-A60. DOI: 10.1016/S1090-3798(99)91145-5  0.314
1999 Wyllie E, Dobyns WB. Epidermal Nevus Syndrome Neurology. 41: 77-80. DOI: 10.1016/B978-012422150-5/50011-1  0.406
1998 Pilz DT, Macha ME, Precht KS, Smith AC, Dobyns WB, Ledbetter DH. Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 1: 29-33. PMID 11261426 DOI: 10.1097/00125817-199811000-00007  0.354
1998 Pilz DT, Matsumoto N, Minnerath S, Mills P, Gleeson JG, Allen KM, Walsh CA, Barkovich AJ, Dobyns WB, Ledbetter DH, Ross ME. LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. Human Molecular Genetics. 7: 2029-37. PMID 9817918 DOI: 10.1093/Hmg/7.13.2029  0.63
1998 Guerrini R, Dobyns WB. Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation. Neurology. 51: 499-503. PMID 9710025 DOI: 10.1212/Wnl.51.2.499  0.413
1998 Sossey-Alaoui K, Hartung AJ, Guerrini R, Manchester DK, Posar A, Puche-Mira A, Andermann E, Dobyns WB, Srivastava AK. Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects Human Molecular Genetics. 7: 1327-1332. PMID 9668176 DOI: 10.1093/Hmg/7.8.1327  0.445
1998 Brashear A, Butler IJ, Hyland K, Farlow MR, Dobyns WB. Cerebrospinal fluid homovanillic acid levels in rapid-onset dystonia-parkinsonism. Annals of Neurology. 43: 521-6. PMID 9546335 DOI: 10.1002/Ana.410430417  0.32
1998 Gleeson JG, Allen KM, Fox JW, Lamperti ED, Berkovic S, Scheffer I, Cooper EC, Dobyns WB, Minnerath SR, Ross ME, Walsh CA. Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell. 92: 63-72. PMID 9489700 DOI: 10.1016/S0092-8674(00)80899-5  0.6
1997 Gomez CM, Thompson RM, Gammack JT, Perlman SL, Dobyns WB, Truwit CL, Zee DS, Clark HB, Anderson JH. Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. Annals of Neurology. 42: 933-50. PMID 9403487 DOI: 10.1002/Ana.410420616  0.409
1997 Dobyns WB, Guerrini R, Czapansky-Beilman DK, Pierpont ME, Breningstall G, Yock DH, Bonanni P, Truwit CL. Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome. Neurology. 49: 1042-7. PMID 9339687 DOI: 10.1212/WNL.49.4.1042  0.312
1997 Fink JM, Dobyns WB, Guerrini R, Hirsch BA. Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia. American Journal of Human Genetics. 61: 379-87. PMID 9311743 DOI: 10.1086/514863  0.444
1997 Moore CA, Toriello HV, Abuelo DN, Bull MJ, Curry CJ, Hall BD, Higgins JV, Stevens CA, Twersky S, Weksberg R, Dobyns WB. Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities. American Journal of Medical Genetics. 70: 67-73. PMID 9129744 DOI: 10.1002/(Sici)1096-8628(19970502)70:1<67::Aid-Ajmg13>3.0.Co;2-V  0.342
1997 Brashear A, DeLeon D, Bressman SB, Thyagarajan D, Farlow MR, Dobyns WB. Rapid-onset dystonia-parkinsonism in a second family. Neurology. 48: 1066-9. PMID 9109901 DOI: 10.1212/Wnl.48.4.1066  0.353
1997 Ross ME, Allen KM, Srivastava AK, Featherstone T, Gleeson JG, Hirsch B, Harding BN, Andermann E, Abdullah R, Berg M, Czapansky-Bielman D, Flanders DJ, Guerrini R, Motté J, Mira AP, ... ... Dobyns WB, et al. Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain. Human Molecular Genetics. 6: 555-62. PMID 9097958 DOI: 10.1093/Hmg/6.4.555  0.539
1997 Lo Nigro C, Chong CS, Smith AC, Dobyns WB, Carrozzo R, Ledbetter DH. Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. Human Molecular Genetics. 6: 157-64. PMID 9063735 DOI: 10.1093/Hmg/6.2.157  0.425
1997 Chong SS, Pack SD, Roschke AV, Tanigami A, Carrozzo R, Smith AC, Dobyns WB, Ledbetter DH. A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. Human Molecular Genetics. 6: 147-55. PMID 9063734 DOI: 10.1093/Hmg/6.2.147  0.382
1997 Au KS, Rodriguez JA, Rodriguez E, Dobyns WB, Delgado MR, Northrup H. Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16 Human Mutation. 9: 23-29. PMID 8990004 DOI: 10.1002/(Sici)1098-1004(1997)9:1<23::Aid-Humu4>3.0.Co;2-Q  0.431
1997 Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nature Genetics. 15: 62-9. PMID 8988170 DOI: 10.1038/Ng0197-62  0.494
1997 Pavone L, Fiumara A, Barone R, Rizzo R, Buttitta P, Dobyns WB, Jaeken J. Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I. Journal of Neurology. 243: 700-5. PMID 8923302 DOI: 10.1007/Bf00873975  0.402
1996 Mostofsky SH, Blasco PA, Butler IJ, Dobyns WB. Autosomal dominant torsion dystonia with onset in infancy Pediatric Neurology. 15: 245-248. PMID 8916165 DOI: 10.1016/S0887-8994(96)00169-5  0.408
1996 Dobyns WB, Andermann E, Andermann F, Czapansky-Beilman D, Dubeau F, Dulac O, Guerrini R, Hirsch B, Ledbetter DH, Lee NS, Motte J, Pinard JM, Radtke RA, Ross ME, Tampieri D, et al. X-linked malformations of neuronal migration. Neurology. 47: 331-9. PMID 8757001 DOI: 10.1212/Wnl.47.2.331  0.324
1996 Dobyns WB, Patton MA, Stratton RF, Mastrobattista JM, Blanton SH, Northrup H. Cobblestone lissencephaly with normal eyes and muscle Neuropediatrics. 27: 70-75. PMID 8737821 DOI: 10.1055/S-2007-973752  0.403
1996 Barkovich AJ, Kuzniecky RI, Dobyns WB, Jackson GD, Becker LE, Evrard P. A classification scheme for malformations of cortical development. Neuropediatrics. 27: 59-63. PMID 8737819 DOI: 10.1055/S-2007-973750  0.34
1996 Cohn RD, Gillessen-Kaesbach G, Dobyns WB, Kahn T, Lenard HG, Voit T. Diffuse polymicrogyria associated with an unusual pattern of multiple congenital anomalies including turribrachycephaly and hypogenitalism. American Journal of Medical Genetics. 63: 314-7. PMID 8723127 DOI: 10.1002/(Sici)1096-8628(19960503)63:1<314::Aid-Ajmg52>3.0.Co;2-N  0.344
1996 Brashear A, Farlow MR, Butler IJ, Kasarskis EJ, Dobyns WB. Variable phenotype of rapid-onset dystonia-parkinsonism. Movement Disorders : Official Journal of the Movement Disorder Society. 11: 151-6. PMID 8684384 DOI: 10.1002/Mds.870110206  0.367
1996 Dobyns WB. Chromosome X and 17-linked lissencephaly (smooth brain) syndromes Mental Retardation and Developmental Disabilities Research Reviews. 2: 118-121. DOI: 10.1002/(Sici)1098-2779(1996)2:3<118::Aid-Mrdd1>3.0.Co;2-O  0.451
1995 Sanyanusin P, Schimmenti LA, McNoe LA, Ward TA, Pierpont ME, Sullivan MJ, Dobyns WB, Eccles MR. Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nature Genetics. 9: 358-64. PMID 7795640 DOI: 10.1038/Ng0495-358  0.4
1995 Dodge NN, Dobyns WB. Agenesis of the corpus callosum and Dandy-Walker malformation associated with hemimegalencephaly in the sebaceous nevus syndrome. American Journal of Medical Genetics. 56: 147-50. PMID 7625436 DOI: 10.1002/Ajmg.1320560206  0.411
1995 Dobyns WB, Truwit CL. Lissencephaly and other malformations of cortical development: 1995 update. Neuropediatrics. 26: 132-47. PMID 7477752 DOI: 10.1055/S-2007-979744  0.342
1994 Pavone L, Rizzo R, Dobyns WB. Clinical manifestations and evaluation of isolated lissencephaly. Child's Nervous System : Chns : Official Journal of the International Society For Pediatric Neurosurgery. 9: 387-90. PMID 8306352 DOI: 10.1007/Bf00306189  0.425
1994 Wheeler PG, Dobyns WB, Plager DA, Ellis FD. Familial remitting chorea, nystagmus, and cataracts. American Journal of Medical Genetics. 47: 1215-7. PMID 8291559 DOI: 10.1002/Ajmg.1320470817  0.335
1993 Reiner O, Carrozzo R, Shen Y, Wehnert M, Faustinella F, Dobyns WB, Caskey CT, Ledbetter DH. Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature. 364: 717-21. PMID 8355785 DOI: 10.1038/364717A0  0.446
1993 Wheeler PG, Weaver DD, Dobyns WB. Benign hereditary chorea. Pediatric Neurology. 9: 337-40. PMID 8292207 DOI: 10.1016/0887-8994(93)90101-H  0.303
1993 Dobyns WB, Ozelius LJ, Kramer PL, Brashear A, Farlow MR, Perry TR, Walsh LE, Kasarskis EJ, Butler IJ, Breakefield XO. Rapid-onset dystonia-parkinsonism. Neurology. 43: 2596-602. PMID 8255463 DOI: 10.1212/Wnl.43.12.2596  0.386
1993 Dobyns WB, Reiner O, Carrozzo R, Ledbetter DH. Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. Jama. 270: 2838-42. PMID 7907669 DOI: 10.1001/Jama.1993.03510230076039  0.447
1991 Pavone L, Curatolo P, Rizzo R, Micali G, Incorpora G, Garg BP, Dunn DW, Dobyns WB. Epidermal nevus syndrome: a neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophy. Neurology. 41: 266-71. PMID 1992373 DOI: 10.1212/WNL.41.2_Part_1.266  0.354
1990 Pavone L, Gullotta F, Incorpora G, Grasso S, Dobyns WB. Isolated lissencephaly: report of four patients from two unrelated families. Journal of Child Neurology. 5: 52-9. PMID 2299140 DOI: 10.1177/088307389000500113  0.314
1989 Dobyns WB, Pagon RA, Armstrong D, Curry CJ, Greenberg F, Grix A, Holmes LB, Laxova R, Michels VV, Robinow M. Diagnostic criteria for Walker-Warburg syndrome. American Journal of Medical Genetics. 32: 195-210. PMID 2494887 DOI: 10.1002/Ajmg.1320320213  0.356
1986 Stratton RF, Dobyns WB, Greenberg F, DeSana JB, Moore C, Fidone G, Runge GH, Feldman P, Sekhon GS, Pauli RM. Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome. American Journal of Medical Genetics. 24: 421-32. PMID 3728561 DOI: 10.1002/Ajmg.1320240305  0.421
1985 Dobyns WB, Kirkpatrick JB, Hittner HM, Roberts RM, Kretzer FL. Syndromes with lissencephaly. II: Walker-Warburg and cerebro-oculo-muscular syndromes and a new syndrome with type II lissencephaly. American Journal of Medical Genetics. 22: 157-95. PMID 3931474 DOI: 10.1002/Ajmg.1320220118  0.41
1984 Stratton RF, Dobyns WB, Airhart SD, Ledbetter DH. New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13. Human Genetics. 67: 193-200. PMID 6745939 DOI: 10.1007/Bf00273000  0.433
1983 Dobyns WB, Stratton RF, Parke JT, Greenberg F, Nussbaum RL, Ledbetter DH. Miller-Dieker syndrome: lissencephaly and monosomy 17p. The Journal of Pediatrics. 102: 552-8. PMID 6834189 DOI: 10.1016/S0022-3476(83)80183-8  0.312
Low-probability matches (unlikely to be authored by this person)
1992 Dobyns WB, Elias ER, Newlin AC, Pagon RA, Ledbetter DH. Causal heterogeneity in isolated lissencephaly. Neurology. 42: 1375-88. PMID 1620349 DOI: 10.1212/Wnl.42.7.1375  0.299
2011 Paciorkowski AR, Thio LL, Rosenfeld JA, Gajecka M, Gurnett CA, Kulkarni S, Chung WK, Marsh ED, Gentile M, Reggin JD, Wheless JW, Balasubramanian S, Kumar R, Christian SL, Marini C, ... ... Dobyns WB, et al. Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function. European Journal of Human Genetics : Ejhg. 19: 1238-45. PMID 21694734 DOI: 10.1038/Ejhg.2011.121  0.298
1984 Dobyns WB, Stratton RF, Greenberg F. Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly. American Journal of Medical Genetics. 18: 509-26. PMID 6476009 DOI: 10.1002/AJMG.1320180320  0.297
1985 Dobyns WB, Dewald GW, Carlson RO, Mair DD, Michels VV. Deficiency of chromosome 8p21.1----8pter: case report and review of the literature. American Journal of Medical Genetics. 22: 125-34. PMID 3901750 DOI: 10.1002/ajmg.1320220114  0.296
2006 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. 288: 1123-45. PMID 17031806 DOI: 10.1002/Ar.A.20389  0.296
2018 Ramos EM, Carecchio M, Lemos R, Ferreira J, Legati A, Sears RL, Hsu SC, Panteghini C, Magistrelli L, Salsano E, Esposito S, Taroni F, Richard AC, Tranchant C, Anheim M, ... ... Dobyns WB, et al. Primary brain calcification: an international study reporting novel variants and associated phenotypes. European Journal of Human Genetics : Ejhg. PMID 29955172 DOI: 10.1038/S41431-018-0185-4  0.296
2012 Kheradmand Kia S, Verbeek E, Engelen E, Schot R, Poot RA, de Coo IF, Lequin MH, Poulton CJ, Pourfarzad F, Grosveld FG, Brehm A, de Wit MC, Oegema R, Dobyns WB, Verheijen FW, et al. RTTN mutations link primary cilia function to organization of the human cerebral cortex. American Journal of Human Genetics. 91: 533-40. PMID 22939636 DOI: 10.1016/j.ajhg.2012.07.008  0.296
1995 Phelan MC, Rogers RC, Clarkson KB, Bowyer FP, Levine MA, Estabrooks LL, Severson MC, Dobyns WB. Albright hereditary osteodystrophy and del(2) (q37.3) in four unrelated individuals. American Journal of Medical Genetics. 58: 1-7. PMID 7573148 DOI: 10.1002/ajmg.1320580102  0.294
2005 Moog U, Jones MC, Bird LM, Dobyns WB. Oculocerebrocutaneous syndrome: The brain malformation defines a core phenotype Journal of Medical Genetics. 42: 913-921. PMID 15879499 DOI: 10.1136/jmg.2005.031369  0.294
2014 Yamamoto S, Jaiswal M, Charng WL, Gambin T, Karaca E, Mirzaa G, Wiszniewski W, Sandoval H, Haelterman NA, Xiong B, Zhang K, Bayat V, David G, Li T, Chen K, ... ... Dobyns WB, et al. A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell. 159: 200-14. PMID 25259927 DOI: 10.1016/J.Cell.2014.09.002  0.294
1997 Schwabe MJ, Dobyns WB, Burke B, Armstrong DL. Valproate-induced liver failure in one of two siblings with Alpers disease. Pediatric Neurology. 16: 337-43. PMID 9258971 DOI: 10.1016/S0887-8994(97)00030-1  0.291
2014 Paciorkowski AR, Weisenberg J, Kelley JB, Spencer A, Tuttle E, Ghoneim D, Thio LL, Christian SL, Dobyns WB, Paschal BM. Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation. European Journal of Human Genetics : Ejhg. 22: 587-93. PMID 24045845 DOI: 10.1038/Ejhg.2013.196  0.291
2020 Wenger TL, Bly RA, Wu N, Albert CM, Park J, Shieh J, Chenbhanich J, Heike CL, Adam MP, Chang I, Sun A, Miller DE, Beck AE, Gupta D, Boos MD, ... ... Dobyns WB, et al. Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy. American Journal of Medical Genetics. Part A. PMID 32500973 DOI: 10.1002/Ajmg.A.61615  0.29
2004 Beltran-Valero de Bernabé D, Voit T, Longman C, Steinbrecher A, Straub V, Yuva Y, Herrmann R, Sperner J, Korenke C, Diesen C, Dobyns WB, Brunner HG, van Bokhoven H, Brockington M, Muntoni F. Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. Journal of Medical Genetics. 41: e61. PMID 15121789 DOI: 10.1136/jmg.2003.013870  0.287
2002 Poolos NP, Das S, Clark GD, Lardizabal D, Noebels JL, Wyllie E, Dobyns WB. Males with epilepsy, complete subcortical band heterotopia, and somatic mosaicism for DCX. Neurology. 58: 1559-62. PMID 12034802 DOI: 10.1212/Wnl.58.10.1559  0.286
2020 Vabres P, Sorlin A, Kholmanskikh SS, Demeer B, St-Onge J, Duffourd Y, Kuentz P, Courcet JB, Carmignac V, Garret P, Bessis D, Boute O, Bron A, Captier G, Carmi E, ... ... Dobyns WB, et al. Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome. Nature Genetics. PMID 32034319 DOI: 10.1038/s41588-019-0565-x  0.285
2019 Vabres P, Sorlin A, Kholmanskikh SS, Demeer B, St-Onge J, Duffourd Y, Kuentz P, Courcet JB, Carmignac V, Garret P, Bessis D, Boute O, Bron A, Captier G, Carmi E, ... ... Dobyns WB, et al. Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome. Nature Genetics. PMID 31611689 DOI: 10.1038/S41588-019-0527-3  0.285
2011 Gripp KW, Hopkins E, Sol-Church K, Stabley DL, Axelrad ME, Doyle D, Dobyns WB, Hudson C, Johnson J, Tenconi R, Graham GE, Sousa AB, Heller R, Piccione M, Corsello G, et al. Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C American Journal of Medical Genetics, Part A. 155: 706-716. PMID 21438134 DOI: 10.1002/Ajmg.A.33884  0.284
1999 Webb DW, Broderick A, Brashear A, Dobyns WB. Rapid onset dystonia-parkinsonism in a 14-year-old girl. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. 3: 171-3. PMID 10476366 DOI: 10.1016/S1090-3798(99)90051-X  0.284
2015 Paciorkowski AR, McDaniel SS, Jansen LA, Tully H, Tuttle E, Ghoneim DH, Tupal S, Gunter SA, Vasta V, Zhang Q, Tran T, Liu YB, Ozelius LJ, Brashear A, Sweadner KJ, ... Dobyns WB, et al. Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly. Epilepsia. 56: 422-30. PMID 25656163 DOI: 10.1111/Epi.12914  0.284
2004 Laan Mvd, Essen AJv, Timmer A, Dobyns WB, Arabin B. P14.68: Three consecutive pregnancies with Dekaban-Arima syndrome with variable expression Ultrasound in Obstetrics & Gynecology. 24: 364-364. DOI: 10.1002/Uog.1666  0.282
2006 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. 16: 132-6. PMID 16427280 DOI: 10.1016/J.Nmd.2005.11.012  0.282
1996 Zelnik N, Dobyns WB, Forem SL, Kolodny EH. Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations. Neuroradiology. 38: 684-7. PMID 8912329 DOI: 10.1007/S002340050334  0.281
2013 Paciorkowski AR, Traylor RN, Rosenfeld JA, Hoover JM, Harris CJ, Winter S, Lacassie Y, Bialer M, Lamb AN, Schultz RA, Berry-Kravis E, Porter BE, Falk M, Venkat A, Vanzo RJ, ... ... Dobyns WB, et al. MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways. Neurogenetics. 14: 99-111. PMID 23389741 DOI: 10.1007/S10048-013-0356-Y  0.28
2014 Seltzer LE, Ma M, Ahmed S, Bertrand M, Dobyns WB, Wheless J, Paciorkowski AR. Epilepsy and outcome in FOXG1-related disorders. Epilepsia. 55: 1292-300. PMID 24836831 DOI: 10.1111/Epi.12648  0.279
1979 Dobyns WB, Gunderson CB, Deering WM. Unsuccessful physostigmine therapy in Reye syndrome. Annals of Neurology. 6: 141. PMID 496413 DOI: 10.1002/Ana.410060218  0.278
2014 Mirzaa GM, Enyedi L, Parsons G, Collins S, Medne L, Adams C, Ward T, Davitt B, Bicknese A, Zackai E, Toriello H, Dobyns WB, Christian S. Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature American Journal of Medical Genetics, Part A. 164: 2879-2886. DOI: 10.1002/ajmg.a.36707  0.277
2013 Siegel DH, Shieh JT, Kwon EK, Baselga E, Blei F, Cordisco M, Dobyns WB, Duffy KJ, Garzon MC, Gibbs DL, Grimmer JF, Hayflick SJ, Krol AL, Kwok PY, Lorier R, et al. Copy number variation analysis in 98 individuals with PHACE syndrome. The Journal of Investigative Dermatology. 133: 677-84. PMID 23096700 DOI: 10.1038/Jid.2012.367  0.277
2019 Amrom D, Poduri A, Goldman JS, Dan B, Deconinck N, Pichon B, Nadaf J, Andermann F, Andermann E, Walsh CA, Dobyns WB. Duplication 2p16 is associated with perisylvian polymicrogyria. American Journal of Medical Genetics. Part A. PMID 31660690 DOI: 10.1002/ajmg.a.61342  0.276
1995 Ramer JC, Lin AE, Dobyns WB, Winter R, Ayme S, Pallotta R, Ladda RL. Previously apparently undescribed syndrome: Shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation American Journal of Medical Genetics. 57: 403-409. PMID 7545868 DOI: 10.1002/ajmg.1320570308  0.276
2018 Ruaud L, Rice GI, Cabrol C, Piard J, Rodero M, van Eyk L, Boucher-Brischoux E, de Noordhout AM, Maré R, Scalais E, Pauly F, Debray FG, Dobyns W, Uggenti C, Park JW, et al. Autosomal dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function. Human Mutation. PMID 29782060 DOI: 10.1002/humu.23554  0.275
2016 Donato ND, Neuhann T, Kahlert AK, Klink B, Hackmann K, Neuhann I, Novotna B, Schallner J, Krause C, Glass IA, Parnell SE, Benet-Pages A, Nissen AM, Berger W, Altmüller J, ... ... Dobyns WB, et al. Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt Journal of Medical Genetics. DOI: 10.1136/jmedgenet-2015-103511  0.274
1993 Dobyns WB. Classification of the cerebro-oculo-muscular syndrome(s). Commentary to Kimura's paper (pp. 182-91) Brain & Development. 15: 242-4. PMID 8214354 DOI: 10.1016/0387-7604(93)90074-I  0.274
2020 Rabin R, Radmanesh A, Glass IA, Dobyns WB, Aldinger KA, Shieh JT, Romoser S, Bombei H, Dowsett L, Trapane P, Bernat JA, Baker J, Mendelsohn NJ, Popp B, Siekmeyer M, et al. Genotype-phenotype correlation at codon 1740 of SETD2. American Journal of Medical Genetics. Part A. PMID 32710489 DOI: 10.1002/ajmg.a.61724  0.272
2020 Park KB, Chapman T, Aldinger KA, Mirzaa GM, Zeiger J, Beck A, Glass IA, Hevner RF, Jansen AC, Marshall DA, Oegema R, Parrini E, Saneto RP, Curry CJ, Hall JG, ... ... Dobyns WB, et al. The spectrum of brain malformations and disruptions in twins. American Journal of Medical Genetics. Part A. PMID 33205886 DOI: 10.1002/ajmg.a.61972  0.272
2016 Mirzaa GM, Collins S, Dobyns WB. Corrigendum to "Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature. Am J Med Genet Part A 2014 164A:2879-86" American Journal of Medical Genetics, Part A. 170: 547. DOI: 10.1002/ajmg.a.37449  0.272
2008 Kornak U, Reynders E, Dimopoulou A, Van Reeuwijk J, Fischer B, Rajab A, Budde B, Nürnberg P, Foulquier F, Dobyns WB, Quelhas D, Vilarinho L, Leao-Teles E, Greally M, Seemanova E, et al. Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2 Nature Genetics. 40: 32-34. PMID 18157129 DOI: 10.1038/Ng.2007.45  0.27
2021 Muir AM, Gardner JF, van Jaarsveld RH, de Lange IM, van der Smagt JJ, Wilson GN, Dubbs H, Goldberg EM, Zitano L, Bupp C, Martinez J, Srour M, Accogli A, Alhakeem A, Meltzer M, ... ... Dobyns WB, et al. Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 33473207 DOI: 10.1038/s41436-020-01076-8  0.27
2019 Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, et al. SLC35A2-CDG: Functional Characterization, Expanded Molecular, Clinical, and Biochemical Phenotypes of 30 Unreported Individuals. Human Mutation. PMID 30817854 DOI: 10.1002/Humu.23731  0.269
2020 Jayakody H, Zarei S, Nguyen H, Dalton J, Chen K, Hudgins L, Day J, Withrow K, Pandya A, Teasley J, Dobyns WB, Mathews KD, Moore SA. Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A). Journal of Neuropathology and Experimental Neurology. PMID 32827036 DOI: 10.1093/Jnen/Nlaa062  0.269
2015 Cohen AS, Yap DB, Lewis ME, Chijiwa C, Ramos-Arroyo MA, Tkachenko N, Milano V, Fradin M, McKinnon ML, Townsend KN, Xu J, Van Allen MI, Ross CJ, Dobyns WB, Weaver DD, et al. Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function in Vitro. Human Mutation. PMID 26694085 DOI: 10.1002/humu.22946  0.269
2000 Guerrini R, Barkovich AJ, Sztriha L, Dobyns WB. Bilateral frontal polymicrogyria: a newly recognized brain malformation syndrome. Neurology. 54: 909-13. PMID 10690985 DOI: 10.1212/WNL.54.4.909  0.266
1986 Kelley RI, Datta NS, Dobyns WB, Hajra AK, Moser AB, Noetzel MJ, Zackai EH, Moser HW. Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes. American Journal of Medical Genetics. 23: 869-901. PMID 3515938 DOI: 10.1002/Ajmg.1320230404  0.264
1989 Dobyns WB. Agenesis of the corpus callosum and gyral malformations are frequent manifestations of nonketotic hyperglycinemia. Neurology. 39: 817-20. PMID 2786166 DOI: 10.1212/WNL.39.6.817  0.264
1986 Greenberg F, Stratton RF, Lockhart LH, Elder FF, Dobyns WB, Ledbetter DH. Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17. American Journal of Medical Genetics. 23: 853-9. PMID 3963054 DOI: 10.1002/Ajmg.1320230402  0.262
2003 Dobyns WB. Primary microcephaly: new approaches for an old disorder. American Journal of Medical Genetics. 112: 315-7. PMID 12376930 DOI: 10.1002/Ajmg.10580  0.26
2019 Holt RJ, Young RM, Crespo B, Ceroni F, Curry CJ, Bellacchio E, Bax DA, Ciolfi A, Simon M, Fagerberg CR, van Binsbergen E, De Luca A, Memo L, Dobyns WB, Mohammed AA, et al. De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies. American Journal of Human Genetics. PMID 31402090 DOI: 10.1016/J.Ajhg.2019.07.005  0.257
2007 Dobyns WB. The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked: X-linked inheritance Acta Paediatrica. 95: 11-15. DOI: 10.1111/J.1651-2227.2006.Tb02383.X  0.256
2015 Di Donato N, Rump A, Mirzaa GM, Alcantara D, Oliver A, Schrock E, Dobyns WB, O'Driscoll M. Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum" Human Mutation. DOI: 10.1002/humu.22933  0.254
2009 Ashwal S, Michelson D, Plawner L, Dobyns WB. Practice parameter: Evaluation of the child with microcephaly (an evidence-based review): Report of the quality standards subcommittee of the American academy of neurology and the practice committee of the child neurology society Neurology. 73: 887-897. PMID 19752457 DOI: 10.1212/WNL.0b013e3181b783f7  0.254
2010 Oegema R, De Klein A, Verkerk AJ, Schot R, Dumee B, Douben H, Eussen B, Dubbel L, Poddighe PJ, Van Der Laar I, Dobyns WB, Van Der Spek PJ, Lequin MH, De Coo IFM, De Wit MCY, et al. Distinctive phenotypic abnormalities associated with submicroscopic 21q22 deletion including DYRK1A Molecular Syndromology. 1: 113-120. DOI: 10.1159/000320113  0.249
1993 Dobyns WB. Cerebral dysgenesis: Embryology and clinical expression Pediatric Neurology. 9: 415. DOI: 10.1016/0887-8994(93)90120-2  0.249
2013 Mirzaa GM, Dobyns WB. The "megalencephaly-capillary malformation" (MCAP) syndrome: The nomenclature of a highly recognizable multiple congenital anomaly syndrome American Journal of Medical Genetics, Part A. 161: 2115-2116. PMID 23798482 DOI: 10.1002/ajmg.a.35940  0.247
2012 Barkovich AJ, Guerrini R, Kuzniecky RI, Jackson GD, Dobyns WB. A developmental and genetic classification for malformations of cortical development: Update 2012 Brain. 135: 1348-1369. PMID 22427329 DOI: 10.1093/brain/aws019  0.247
2018 El-Saafin F, Curry C, Ye T, Garnier JM, Kolb-Cheynel I, Stierle M, Downer NL, Dixon MP, Negroni L, Berger I, Thomas T, Voss AK, Dobyns W, Devys D, Tora L. Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA Polymerase II transcription. Human Molecular Genetics. PMID 29648665 DOI: 10.1093/Hmg/Ddy126  0.246
2021 Biesecker LG, Adam MP, Alkuraya FS, Amemiya AR, Bamshad MJ, Beck AE, Bennett JT, Bird LM, Carey JC, Chung B, Clark RD, Cox TC, Curry C, Dinulos MBP, Dobyns WB, et al. A dyadic approach to the delineation of diagnostic entities in clinical genomics. American Journal of Human Genetics. 108: 8-15. PMID 33417889 DOI: 10.1016/j.ajhg.2020.11.013  0.241
1998 Barkovich AJ, Ferriero DM, Barr RM, Gressens P, Dobyns WB, Truwit CL, Evrard P. Microlissencephaly: a heterogeneous malformation of cortical development. Neuropediatrics. 29: 113-9. PMID 9706619 DOI: 10.1055/s-2007-973545  0.241
2019 Gripp KW, Morse LA, Axelrad M, Chatfield KC, Chidekel A, Dobyns W, Doyle D, Kerr B, Lin AE, Schwartz DD, Sibbles BJ, Siegel D, Shankar SP, Stevenson DA, Thacker MM, et al. Costello syndrome: Clinical phenotype, genotype, and management guidelines. American Journal of Medical Genetics. Part A. PMID 31222966 DOI: 10.1002/Ajmg.A.61270  0.238
2000 Das S, Mills PL, Hedrick J, Dobyns WB, Ledbetter DH. Orphan Genetic Disease – making testing a reality Genetics in Medicine. 2: 49-49. DOI: 10.1097/00125817-200001000-00021  0.238
1994 Olson JC, Konkol RJ, Gill JC, Dobyns WB, Coull BM. Childhood stroke and lupus anticoagulant. Pediatric Neurology. 10: 54-7. PMID 8198673 DOI: 10.1016/0887-8994(94)90068-X  0.236
1999 Dobyns W, Barkovich A. Microcephaly with Simplified Gyral Pattern (Oligogyric Microcephaly) and Microlissencephaly Neuropediatrics. 30: 104-106. DOI: 10.1055/S-2007-973471  0.236
1985 Dobyns WB, Gilbert EF, Opitz JM. Further comments on the lissencephaly syndromes. American Journal of Medical Genetics. 22: 197-211. PMID 3901751 DOI: 10.1002/AJMG.1320220119  0.233
2008 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, et al. Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum (Nature Genetics (2008) 40, (1065-1067)) Nature Genetics. 40: 1384. DOI: 10.1038/ng1108-1384b  0.232
1999 Cormand B, Pihko H, Dobyns W, Valanne L, Topaloglu H, Voit T, Santavuori P, Lehesjoki A. 146 Muscle-eye-brain disease and classical Walker-Warburg syndrome are two distinct disorders: A molecular genetic and clinical study European Journal of Paediatric Neurology. 3: A111. DOI: 10.1016/S1090-3798(99)91281-3  0.227
2019 Osbun JW, Karasozen Y, Parada C, Busald T, Tatman P, Gonzalez-Cuyar L, Hale C, Alcantra D, O’Driscoll M, Dobyns W, Murray M, Kim LJ, Byers P, Dorschner M, Ferreira M. Somatic Platelet Derived Growth Factor Receptor Beta Activating Variants in Fusiform Cerebral Aneurysms Neurosurgery. 66. DOI: 10.1093/Neuros/Nyz310_677  0.225
1988 Johnson DD, Dobyns WB, Gordon H, Dewald GW. Familial pericentric and paracentric inversions of chromosome 1. Human Genetics. 79: 315-20. PMID 3410456 DOI: 10.1007/BF00282168  0.225
1991 Dobyns WB, Garg BP. Vascular abnormalities in epidermal nevus syndrome. Neurology. 41: 276-8. PMID 1992375 DOI: 10.1212/WNL.41.2_Part_1.276  0.224
2019 Burkardt DD, Tatton-Brown K, Dobyns W, Graham JM. Approach to overgrowth syndromes in the genome era. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. PMID 31793186 DOI: 10.1002/ajmg.c.31757  0.219
2021 Rodríguez-Palmero A, Boerrigter MM, Gómez-Andrés D, Aldinger KA, Marcos-Alcalde Í, Popp B, Everman DB, Lovgren AK, Arpin S, Bahrambeigi V, Beunders G, Bisgaard AM, Bjerregaard VA, Bruel AL, Challman TD, ... ... Dobyns WB, et al. DLG4-related synaptopathy: a new rare brain disorder. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 33597769 DOI: 10.1038/s41436-020-01075-9  0.219
2017 Oegema R, Baillat D, Schot R, van Unen LM, Brooks A, Kia SK, Hoogeboom AJM, Xia Z, Li W, Cesaroni M, Lequin MH, van Slegtenhorst M, Dobyns WB, de Coo IFM, van den Berg D, et al. Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development. Plos Genetics. 13: e1006923. PMID 28763441 DOI: 10.1371/Journal.Pgen.1006923  0.215
2016 Ma M, Adams HR, Seltzer LE, Dobyns WB, Paciorkowski AR. Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies. The Journal of Pediatrics. PMID 27640358 DOI: 10.1016/j.jpeds.2016.08.032  0.215
1989 Dobyns WB. The Neurogenetics of Lissencephaly Neurologic Clinics. 7: 89-105. DOI: 10.1016/S0733-8619(18)30830-2  0.213
1998 Peters C, Anderson JR, Lockman LA, Shapiro EG, Dobyns WB, Ziegler RS, Dusenbery KE, Wagner JE, Krivit W. Treatment of High Risk Childhood Onset Cerebral Adrenoleukodystrophy (COCALD) with Modified Hematopoietic Stem Cell Transplantation (HSCT) • 1893 Pediatric Research. 43: 323-323. DOI: 10.1203/00006450-199804001-01916  0.212
2008 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, et al. 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. 146: 1637-54. PMID 18536050 DOI: 10.1002/ajmg.a.32293  0.21
2013 Swarr DT, Khalek N, Treat J, Horton MA, Mirzaa GM, Riviere JB, Dobyns WB, Zackai EH. Expanding the differential diagnosis of fetal hydrops: An unusual prenatal presentation of megalencephaly-capillary malformation syndrome Prenatal Diagnosis. 33: 1010-1012. PMID 23754335 DOI: 10.1002/pd.4178  0.209
2020 Blumkin L, Leibovitz Z, Krajden-Haratz K, Arad A, Yosovich K, Gindes L, Zerem A, Ben-Sira L, Lev D, Nissenkorn A, Kidron D, Dobyns WB, Malinger G, Bahi-Buisson N, Leventer RJ, et al. Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. PMID 32169460 DOI: 10.1016/j.ejpn.2020.03.001  0.209
2016 Byers HM, Adam MP, LaCroix A, Leary SE, Cole B, Dobyns WB, Mefford HC. Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22. American Journal of Medical Genetics. Part A. PMID 27734605 DOI: 10.1002/ajmg.a.37993  0.205
2013 Sullivan CT, Christian SL, Shieh JTC, Metry D, Blei F, Krol A, Drolet BA, Frieden IJ, Dobyns WB, Siegel DH. X chromosome-inactivation patterns in 31 individuals with PHACE syndrome Molecular Syndromology. 4: 114-118. DOI: 10.1159/000343489  0.204
2013 Woodbine L, Neal JA, Sasi NK, Shimada M, Deem K, Coleman H, Dobyns WB, Ogi T, Meek K, Davies EG, Jeggo PA. PRKDC mutations in a SCID patient with profound neurological abnormalities. The Journal of Clinical Investigation. 123: 2969-80. PMID 23722905 DOI: 10.1172/Jci67349  0.203
1985 Dobyns WB, Fabian RH, Bordarier C, Aicardi J. Walker-Warburg syndrome Neurology. 35: 1082-1082. DOI: 10.1212/WNL.35.7.1082-a  0.198
2011 Judkins AR, Martinez D, Ferreira P, Dobyns WB, Golden JA. Polymicrogyria includes fusion of the molecular layer and decreased neuronal populations but normal cortical laminar organization. Journal of Neuropathology and Experimental Neurology. 70: 438-43. PMID 21572338 DOI: 10.1097/Nen.0B013E31821Ccf1C  0.198
2007 de Wit M, Lequin M, de Coo I, Brusse E, Halley D, van de Graaf R, Dobyns W, Schot R, Verheijen F, Mancini G. DMO01 Cortical brain malformations: impact of clinical, neuroradiological and modern genetic classification European Journal of Paediatric Neurology. 11: 27-28. DOI: 10.1016/S1090-3798(08)70344-1  0.196
2019 Karasozen Y, Osbun JW, Parada CA, Busald T, Tatman P, Gonzalez-Cuyar LF, Hale CJ, Alcantara D, O'Driscoll M, Dobyns WB, Murray M, Kim LJ, Byers P, Dorschner MO, Ferreira M. Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms. American Journal of Human Genetics. PMID 31031011 DOI: 10.1016/J.Ajhg.2019.03.014  0.196
2018 Berg AT, Chakravorty S, Koh S, Grinspan ZM, Shellhaas RA, Saneto RP, Wirrell EC, Coryell J, Chu CJ, Mytinger JR, Gaillard WD, Valencia I, Knupp KG, Loddenkemper T, Sullivan JE, ... ... Dobyns WB, et al. Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms. Plos One. 13: e0193599. PMID 29518120 DOI: 10.1371/Journal.Pone.0193599  0.194
2019 Monteiro FP, Curry CJ, Hevner R, Elliott S, Fisher JH, Turocy J, Dobyns WB, Costa LA, Freitas E, Kitajima JP, Kok F. Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. European Journal of Medical Genetics. PMID 30690204 DOI: 10.1016/j.ejmg.2019.01.014  0.192
2016 Yang J, Bassuk AG, Merl-Pham J, Hsu CW, Colgan DF, Li X, Au KS, Zhang L, Smemo S, Justus S, Nagahama Y, Grossbach AJ, Howard MA, Kawasaki H, Feldstein NA, ... Dobyns WB, et al. Catenin delta-1 (CTNND1) phosphorylation controls the mesenchymal to epithelial transition in astrocytic tumors. Human Molecular Genetics. PMID 27516388 DOI: 10.1093/Hmg/Ddw253  0.192
1990 Batanian JR, Ledbetter SA, Wolff RK, Nakamura Y, White R, Dobyns WB, Ledbetter DH. Rapid diagnosis of Miller-Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction. Human Genetics. 85: 555-9. PMID 2227942 DOI: 10.1007/Bf00194237  0.188
2012 Mochida GH, Ganesh VS, de Michelena MI, Dias H, Atabay KD, Kathrein KL, Huang HT, Hill RS, Felie JM, Rakiec D, Gleason D, Hill AD, Malik AN, Barry BJ, Partlow JN, ... ... Dobyns WB, et al. CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development. Nature Genetics. 44: 1260-4. PMID 23023333 DOI: 10.1038/Ng.2425  0.188
2015 Berg AT, Dobyns WB. Progress in autism and related disorders of brain development The Lancet Neurology. DOI: 10.1016/S1474-4422(15)00048-4  0.188
2012 Andermann E, Amrom D, D'Agostino D, Dubeau F, Andermann F, Dobyns W. Subcortical Band Heterotopia without Detectable DCX or LIS1 Gene Mutations (PD3.002) Neurology. 78: PD3.002-PD3.002. DOI: 10.1212/WNL.78.1_MEETINGABSTRACTS.PD3.002  0.187
1995 Parano E, Pavone L, Fiumara A, Falsaperla R, Trifiletti RR, Dobyns WB. Congenital muscular dystrophies: Clinical review and proposed classification Pediatric Neurology. 13: 97-103. PMID 8534290 DOI: 10.1016/0887-8994(95)00148-9  0.184
2018 Waldorf KMA, Nelson BR, Stencel-Baerenwald JE, Studholme C, Kapur RP, Armistead B, Walker CL, Merillat S, Vornhagen J, Tisoncik-Go J, Baldessari A, Coleman M, Dighe MK, Shaw DWW, Roby JA, ... ... Dobyns WB, et al. Congenital Zika virus infection as a silent pathology with loss of neurogenic output in the fetal brain. Nature Medicine. PMID 29400709 DOI: 10.1038/Nm.4485  0.18
2001 Ungaro P, Christian SL, Fantes JA, Mutirangura A, Black S, Reynolds J, Malcolm S, Dobyns WB, Ledbetter DH. Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14. Journal of Medical Genetics. 38: 26-34. PMID 11134237 DOI: 10.1136/Jmg.38.1.26  0.18
1987 Dobyns WB, Michels VV, Groover RV, Mokri B, Trautmann JC, Forbes GS, Laws ER. Familial cavernous malformations of the central nervous system and retina. Annals of Neurology. 21: 578-83. PMID 3606045 DOI: 10.1002/ana.410210609  0.173
1990 Khatri BO, Flamini JR, Baruah JK, Dobyns WB, Konkol RJ. Plasmapheresis with acute inflammatory polyneuropathy. Pediatric Neurology. 6: 17-9. PMID 2310433 DOI: 10.1016/0887-8994(90)90073-A  0.169
2018 Liu WA, Chen S, Li Z, Lee CH, Mirzaa G, Dobyns WB, Ross ME, Zhang J, Shi SH. PARD3 dysfunction in conjunction with dynamic HIPPO signaling drives cortical enlargement with massive heterotopia. Genes & Development. PMID 29899142 DOI: 10.1101/Gad.313171.118  0.169
2006 Golden J, Dobyns W, Forman M. Response [3] Journal of Neuropathology and Experimental Neurology. 65: 302-303. DOI: 10.1097/01.Jnen.0000223200.80447.9F  0.167
2019 Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, ... ... Dobyns WB, et al. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. American Journal of Human Genetics. 105: 672-674. PMID 31491411 DOI: 10.1016/J.Ajhg.2019.07.017  0.164
2017 Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, ... ... Dobyns WB, et al. GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. Journal of Medical Genetics. PMID 28377535 DOI: 10.1136/Jmedgenet-2016-104509  0.159
2007 Judkins AR, Dobyns WB, Golden JA. Pathological subtypes of polymicrogyria and brain development Journal of Neuropathology and Experimental Neurology. 66: 436. DOI: 10.1097/01.Jnen.0000268878.60312.C9  0.156
2007 Judkins AR, Dobyns WB, Golden JA. Pathological subtypes of polymicrogyria and brain development The Faseb Journal. 21. DOI: 10.1096/Fasebj.21.5.A75  0.156
2017 Vabres P, Sorlin A, Kholmanskikh S, Demeer B, St-Onge J, Duffourd Y, Kuentz P, Courcet J, Carmignac V, Bessis D, Boute O, Bron A, Captier G, Carmi E, Devauchelle B, ... ... Dobyns W, et al. Caractérisation clinique et génétique d’une nouvelle dysplasie ectodermique en mosaïque Annales De Dermatologie Et De VéNéRéOlogie. 144: S95. DOI: 10.1016/J.Annder.2017.09.103  0.15
2020 Zenner K, Jensen DM, Cook TT, Dmyterko V, Bly RA, Ganti S, Mirzaa GM, Dobyns WB, Perkins JA, Bennett JT. Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32884133 DOI: 10.1038/S41436-020-00943-8  0.149
2015 De Ciantis A, Barkovich AJ, Cosottini M, Barba C, Montanaro D, Costagli M, Tosetti M, Biagi L, Dobyns WB, Guerrini R. Ultra-high-field MR imaging in polymicrogyria and epilepsy. Ajnr. American Journal of Neuroradiology. 36: 309-16. PMID 25258368 DOI: 10.3174/ajnr.A4116  0.148
2017 Berg AT, Coryell J, Saneto RP, Grinspan ZM, Alexander JJ, Kekis M, Sullivan JE, Wirrell EC, Shellhaas RA, Mytinger JR, Gaillard WD, Kossoff EH, Valencia I, Knupp KG, Wusthoff C, ... ... Dobyns WB, et al. Early-Life Epilepsies and the Emerging Role of Genetic Testing. Jama Pediatrics. PMID 28759667 DOI: 10.1001/Jamapediatrics.2017.1743  0.145
2017 Brun BN, Mockler SR, Laubscher KM, Stephan CM, Wallace AM, Collison JA, Zimmerman MB, Dobyns WB, Mathews KD. Comparison of brain MRI findings with language and motor function in the dystroglycanopathies. Neurology. PMID 28087826 DOI: 10.1212/WNL.0000000000003609  0.141
2018 Amlie-Lefond C, Flanagan J, Kanter J, Dobyns WB. The Genetic Landscape of Cerebral Steno-Occlusive Arteriopathy and Stroke in Sickle Cell Anemia. Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association. 27: 2897-2904. PMID 30076115 DOI: 10.1016/j.jstrokecerebrovasdis.2018.06.004  0.141
2016 Gobius I, Morcom L, Suárez R, Bunt J, Bukshpun P, Reardon W, Dobyns WB, Rubenstein JL, Barkovich AJ, Sherr EH, Richards LJ. Astroglial-Mediated Remodeling of the Interhemispheric Midline Is Required for the Formation of the Corpus Callosum. Cell Reports. 17: 735-747. PMID 27732850 DOI: 10.1016/J.Celrep.2016.09.033  0.138
2016 Adams Waldorf KM, Stencel-Baerenwald JE, Kapur RP, Studholme C, Boldenow E, Vornhagen J, Baldessari A, Dighe MK, Thiel J, Merillat S, Armistead B, Tisoncik-Go J, Green RR, Davis MA, Dewey EC, ... ... Dobyns WB, et al. Fetal brain lesions after subcutaneous inoculation of Zika virus in a pregnant nonhuman primate. Nature Medicine. PMID 27618651 DOI: 10.1038/Nm.4193  0.136
1992 Fischer M, Ryan SB, Dobyns WB. Mechanisms of interhemispheric transfer and patterns of cognitive function in acallosal patients of normal intelligence. Archives of Neurology. 49: 271-7. PMID 1536630 DOI: 10.1001/ARCHNEUR.1992.00530270085023  0.127
1990 Dobyns WB, Pagon RA, Curry CJR, Greenberg F. Response to Santavuori et al. regarding Walker-Warburg syndrome and muscle-eye-brain disease American Journal of Medical Genetics. 36: 373-374. DOI: 10.1002/AJMG.1320360335  0.125
2019 Nelson BR, Roby JA, Dobyns WB, Rajagopal L, Gale M, Adams Waldorf KM. Immune Evasion Strategies Used by Zika Virus to Infect the Fetal Eye and Brain. Viral Immunology. PMID 31687902 DOI: 10.1089/Vim.2019.0082  0.125
1995 Schimmenti LA, Pierpont ME, Carpenter BL, Kashtan CE, Johnson MR, Dobyns WB. Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies. American Journal of Medical Genetics. 59: 204-8. PMID 8588587 DOI: 10.1002/ajmg.1320590217  0.123
2016 Tully HM, Wenger TL, Kukull WA, Doherty D, Dobyns WB. Anatomical configurations associated with posthemorrhagic hydrocephalus among premature infants with intraventricular hemorrhage. Neurosurgical Focus. 41: E5. PMID 27798978 DOI: 10.3171/2016.8.Focus16241  0.112
2014 Tully HM, Dobyns WB. Infantile hydrocephalus: A review of epidemiology, classification and causes European Journal of Medical Genetics. 57: 359-368. DOI: 10.1016/j.ejmg.2014.06.002  0.109
1983 Goodman JC, Dobyns WB, Kirkpatrick JB. 145 THE PATHOLOGY OF CEREBRAL GIGANTISM Journal of Neuropathology and Experimental Neurology. 42: 352. DOI: 10.1097/00005072-198305000-00150  0.107
1994 Selky AK, Dobyns WB, Yee RD. Idiopathic intracranial hypertension and facial diplegia. Neurology. 44: 357. PMID 8198627 DOI: 10.1212/WNL.44.2.357  0.074
1989 D'Cruz OF, Shapiro ED, Spiegelman KN, Leicher CR, Breningstall GN, Khatri BO, Dobyns WB. Acute inflammatory demyelinating polyradiculoneuropathy (Guillain-Barré syndrome) after immunization with Haemophilus influenzae type b conjugate vaccine The Journal of Pediatrics. 115: 743-746. PMID 2809907 DOI: 10.1016/S0022-3476(89)80653-5  0.073
2016 Berg AT, Dobyns WB. Progress in autism research and postgenomic studies - Authors' reply The Lancet Neurology. 15: 136-137. DOI: 10.1016/S1474-4422(15)00403-2  0.073
2015 Roth CL, Eslamy H, Werny D, Elfers C, Shaffer ML, Pihoker C, Ojemann J, Dobyns WB. Semiquantitative analysis of hypothalamic damage on MRI predicts risk for hypothalamic obesity. Obesity (Silver Spring, Md.). 23: 1226-33. PMID 25884561 DOI: 10.1002/Oby.21067  0.065
1998 Peters C, Lockman LA, Shapiros EG, Dobyns W, Ziegler R, Dusenbery K, Wagner JE, Krivit W. #640 Modified hematopoietic stem cell transplant (HSCT) preparative theraphy for high risk childhood onset cerebral adrenoleukodystrophy (COCALD) Journal of Pediatric Hematology/Oncology. 20: 387. DOI: 10.1097/00043426-199807000-00077  0.06
1993 Pranzatelli MR, Kao PC, Tate ED, Chaves E, Chez M, Dobyns WB, Kang H, Rothner DA. Antibodies to ACTH in opsoclonus-myoclonus. Neuropediatrics. 24: 131-3. PMID 8395029 DOI: 10.1055/S-2008-1071529  0.053
2011 Barga R, Howe B, Beck D, Bowers S, Dobyns W, Haynes W, Higdon R, Howard C, Roth C, Stewart E, Welch D, Kolker E. Bioinformatics and data-intensive scientific discovery in the beginning of the 21st century. Omics : a Journal of Integrative Biology. 15: 199-201. PMID 21476840 DOI: 10.1089/omi.2011.0024  0.029
2017 Adam A, Robison J, Lu J, Jose R, Badran N, Vivas-Buitrago T, Rigamonti D, Sattar A, Omoush O, Hammad M, Dawood M, Maghaslah M, Belcher T, Carson K, Hoffberger J, ... ... Dobyns WB, et al. Abstracts from Hydrocephalus 2016. Fluids and Barriers of the Cns. 14: 15. PMID 28929972 DOI: 10.1186/S12987-017-0054-5  0.019
2020 Pierpont EI, Berry SA, Lin AE, Lohr JL, Schimmenti LA, Dobyns WB. Mary Ella Mascia Pierpont: Geneticist, scientist, mentor, friend (1945-2020). American Journal of Medical Genetics. Part A. PMID 33241662 DOI: 10.1002/ajmg.a.61963  0.01
2020 Nambot S, Hevner RF, Dobyns WB. Reply to Hsueh YP et al. European Journal of Human Genetics : Ejhg. PMID 32273581 DOI: 10.1038/s41431-020-0622-z  0.01
1990 Shapiro ED, Dobyns WB. Polio vaccine and GBS Neurology. 40: 729. PMID 2320265 DOI: 10.1212/WNL.40.4.729-a  0.01
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