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William Dobyns

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Farid Radmanesh; Başak Rosti; Nenad Sestan; Jennifer L Silhavy; Cahide Yilmaz; Maha S Zaki; Kaya Bilguvar; Ahmet Okay Caglayan; Vincent Cantagrel; William B Dobyns; Stacey Gabriel; Murat Gunel; Hande Kaymakcalan; Mingfeng Li; Tarek Omar; Joseph G Gleeson
Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.
Thomas D Cushion; William B Dobyns; Andrew E Fry; Roxana Gunny; Ute Hehr; Jonathan G L Mullins; Prab Prabhakar; Julia Rankin; Mark I Rees; Neil Stoodley; Gökhan Uyanik; Arthur S Aylsworth; Seo-Kyung Chung; Daniela T Pilz
Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.
Kimberly A Aldinger; A James Barkovich; Brian Chung; Bridget Fernandez; Denise Horn; Virginia E Kimonis; Eva Klopocki; Jillene Kogan; Kathleen J Millen; Annick Toutain; Rosanna Weksberg; William B Dobyns
Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.

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All Publications

2013: Farid Radmanesh; Başak Rosti; Nenad Sestan; Jennifer L Silhavy; Cahide Yilmaz; Maha S Zaki; Kaya Bilguvar; Ahmet Okay Caglayan; Vincent Cantagrel; William B Dobyns; Stacey Gabriel; Murat Gunel; Hande Kaymakcalan; Mingfeng Li; Tarek Omar; Joseph G Gleeson
Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.
American journal of human genetics 2013;92(3):468-74.
2013: Thomas D Cushion; William B Dobyns; Andrew E Fry; Roxana Gunny; Ute Hehr; Jonathan G L Mullins; Prab Prabhakar; Julia Rankin; Mark I Rees; Neil Stoodley; Gökhan Uyanik; Arthur S Aylsworth; Seo-Kyung Chung; Daniela T Pilz
Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.
Brain : a journal of neurology 2013;136(Pt 2):536-48.
2013: Kimberly A Aldinger; A James Barkovich; Brian Chung; Bridget Fernandez; Denise Horn; Virginia E Kimonis; Eva Klopocki; Jillene Kogan; Kathleen J Millen; Annick Toutain; Rosanna Weksberg; William B Dobyns
Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.
American journal of medical genetics. Part A 2013;161A(1):131-6.
2012: Hannah M Tully; Margaret P Adam; Judith Allanson; Christopher Cunniff; Cynthia J R Curry; Jennifer C Dempsey; Daniel Doherty; Ian Glass; Karen W Gripp; Alasdair Hunter; Gisele E Ishak; Kathleen J Millen; Pedro Sanchez-Lara; William B Dobyns
Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.
American journal of medical genetics. Part A 2012;158A(10):2393-406.
2012: Tiziana Pisano; Stephen Robertson; Felix Rosenow; Ingrid E Scheffer; Waney Squier; Pierre Thomas; Gaetano Tortorella; Eva Andermann; Frederick Andermann; A James Barkovich; Samuel F Berkovic; Susan Blaser; William B Dobyns; Richard J Leventer; Carla Marini; George McGillivray; Elena Parrini; Renzo Guerrini
Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis.
Neurology 2012;79(12):1244-51.
2012: Maha S Zaki; Sahar Saleem; Naiara Akizu; Manzar Ashtari; A James Barkovich; Hauke Bartsch; Anders M Dale; William B Dobyns; Joseph G Gleeson; Ana Maria Grijalvo-Perez
Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation.
Brain : a journal of neurology 2012;135(Pt 8):2416-27.
2012: Gisele E Ishak; Kathleen J Millen; Tessa C Rue; Pedro A Sanchez-Lara; Dennis W W Shaw; Hannah Tully; Margaret P Adam; Jennifer C Dempsey; William B Dobyns; Ian Glass; Dan Doherty
Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity.
Brain : a journal of neurology 2012;135(Pt 5):1370-86.
2012: A James Barkovich; Renzo Guerrini; Graeme D Jackson; Ruben I Kuzniecky; William B Dobyns
A developmental and genetic classification for malformations of cortical development: update 2012.
Brain : a journal of neurology 2012;135(Pt 5):1348-69.
2012: Ghayda M Mirzaa; Dawn H Siegel; Robert L Conway; Linda S deVries; John M Graham; Karen W Gripp; Elizabeth Hopkins; Nancy Kramer; Tally Lerman-Sagie; Dorit Lev; William B Dobyns
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 2012;158A(2):269-91.
2011: Maha S Zaki; William B Dobyns; Mahmoud Y Issa; Ghada M H Abdel Salam; Sahar Saleem; Shifteh Sattar; Joseph G Gleeson
New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect.
American journal of medical genetics. Part A 2011;155A(12):3035-41.
2011: Ghayda M Mirzaa; Alex R Paciorkowski; Christopher D Smyser; Marcia C Willing; Anne C Lind; William B Dobyns
The microcephaly-capillary malformation syndrome.
American journal of medical genetics. Part A 2011;155A(9):2080-7.
2011: Nathan Osbun; Len A Pennacchio; Eric Rider; Wendy Schackwitz; Graeme C M Black; Elena Boland; Polina Bukshpun; William B Dobyns; Jiang Li; Mary C O'Driscoll; Cailyn H Spurrell; Zoe Strominger; Mari Wakahiro; Elliott H Sherr
Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene.
American journal of medical genetics. Part A 2011;155A(8):1865-76.
2011: Alexander R Judkins; Daniel Martinez; Pamela Ferreira; William B Dobyns; Jeffrey A Golden
Polymicrogyria includes fusion of the molecular layer and decreased neuronal populations but normal cortical laminar organization.
Journal of neuropathology and experimental neurology 2011;70(6):438-43.
2011: Cassandre Labelle-Dumais; David J Dilworth; Emily P Harrington; Michelle de Leau; David Lyons; Zhyldyz Kabaeva; M Chiara Manzini; William B Dobyns; Christopher Walsh; Daniel Michele; Douglas B Gould
COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.
PLoS genetics 2011;7(5):e1002062.
2011: Valerio Conti; Carla Marini; Simone Gana; Jyotsna Sudi; William B Dobyns; Renzo Guerrini
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 2011;155A(4):892-7.
2011: R M Hanna; Sarah E Marsh; D Swistun; Lihadh Al-Gazali; M S Zaki; G M Abdel-Salam; A Al-Tawari; L Bastaki; Hulya Kayserili; A Rajab; B Boglárka; R B Dietrich; William B Dobyns; C L Truwit; S Sattar; N A Chuang; Elliott H Sherr; Joseph G Gleeson
Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families.
Neurology 2011;76(4):373-82.
2010: Vincent Cantagrel; Dirk J Lefeber; Bobby G Ng; Ziqiang Guan; Jennifer L Silhavy; Stephanie L Bielas; Ludwig Lehle; Hans Hombauer; Maciej Adamowicz; Ewa Swiezewska; Arjan P De Brouwer; Peter Blümel; Jolanta Sykut-Cegielska; Scott Houliston; Dominika Swistun; bassam rushdi ali; William B Dobyns; Dusica Babovic-Vuksanovic; Hans van Bokhoven; Ron A Wevers; Christian R H Raetz; Hudson H Freeze; Eva Morava; Lihadh Al-Gazali; Joseph G Gleeson
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
Cell 2010;142(2):203-17.
2010: Richard J Leventer; Anna Jansen; Daniela T Pilz; Neil Stoodley; Carla Marini; Francois Dubeau; Jodie Malone; L Anne Mitchell; Simone Mandelstam; Ingrid E Scheffer; Samuel F Berkovic; Frederick Andermann; Eva Andermann; Renzo Guerrini; William B Dobyns
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients.
Brain : a journal of neurology 2010;133(Pt 5):1415-27.
2010: William B Dobyns
The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia.
Epilepsia 2010;51 Suppl 1():5-9.
2010: Ravinesh A Kumar; Jyotsna Sudi; Timothy D Babatz; Camille W. Brune; Donald Oswald; Mayon Yen; Norma J Nowak; Edwin H Cook; Susan L Christian; William B Dobyns
A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism.
Journal of medical genetics 2010;47(2):81-90.
2010: Dan Doherty; Melissa A Parisi; L S Finn; M Gunay-Aygun; M Al-Mateen; D Bates; C Clericuzio; H Demir; Michael O Dorschner; A J van Essen; William A Gahl; M Gentile; N T Gorden; A Hikida; D Knutzen; H Ozyurek; I Phelps; P Rosenthal; Alain Verloes; H Weigand; Phillip F Chance; William B Dobyns; Ian A Glass
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
Journal of medical genetics 2010;47(1):8-21.
2009: Timothy D Babatz; Ravinesh A Kumar; Jyotsna Sudi; William B Dobyns; Susan L Christian
Copy number and sequence variants implicate APBA2 as an autism candidate gene.
Autism research : official journal of the International Society for Autism Research 2009;2(6):359-64.
2009: A James Barkovich; Kathleen J Millen; William B Dobyns
A developmental and genetic classification for midbrain-hindbrain malformations.
Brain : a journal of neurology 2009;132(Pt 12):3199-230.
2009: Eden V Haverfield; Amanda J Whited; Kristin S Petras; William B Dobyns; Soma Das
Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia.
European journal of human genetics : EJHG 2009;17(7):911-8.
2009: Ravinesh A Kumar; Christian R Marshall; Judith A Badner; Timothy D Babatz; Zohar Mukamel; Kimberly A Aldinger; Jyotsna Sudi; Camille W. Brune; Gerald Goh; Samer Karamohamed; James S Sutcliffe; Edwin H Cook; Daniel Geschwind; William B Dobyns; Stephen W Scherer; Susan L Christian
Association and mutation analyses of 16p11.2 autism candidate genes.
PloS one 2009;4(2):e4582.
2008: Bhaskar Chanda; Mika Asai-Coakwell; Ming Ye; Andrew J Mungall; Margaret Barrow; William B Dobyns; Hourinaz Behesti; Jane C Sowden; Nigel P Carter; Michael A Walter; Ordan J Lehmann
A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation.
Human molecular genetics 2008;17(22):3446-58.
2008: M Chiara Manzini; Danielle Gleason; Bernard S Chang; R Sean Hill; Brenda J Barry; Jennifer N Partlow; Annapurna Poduri; Sophie Currier; Patricia Galvin-Parton; Lawrence R Shapiro; Karen Schmidt; Jessica G Davis; Lina Basel-Vanagaite; Mohamed Z Seidahmed; Mustafa A Salih; William B Dobyns; Christopher Walsh
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
Human mutation 2008;29(11):E231-41.
2008: Vincent Cantagrel; Jennifer L Silhavy; Stephanie L Bielas; Dominika Swistun; Sarah E Marsh; Julien Y Bertrand; Sophie Audollent; Tania Attié-Bitach; Kenton R Holden; William B Dobyns; David Traver; Lihadh Al-Gazali; bassam rushdi ali; Tom H Lindner; Tamara Caspary; Edgar Otto; Friedhelm Hildebrandt; Ian A Glass; Clare V Logan; Colin A Johnson; Christopher Bennett; Francesco Brancati; Enza Maria Valente; C Geoffrey Woods; Joseph G Gleeson
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
American journal of human genetics 2008;83(2):170-9.
2008: William B Dobyns; Ghayda Mirzaa; Susan L Christian; Kristin Petras; Jessica Roseberry; Gary D Clark; Cynthia J R Curry; Donna McDonald-McGinn; Livija Medne; Elaine Zackai; Julie Parsons; Dina J Zand; Fuki M Hisama; Christopher Walsh; Richard J Leventer; Christa Lese Martin; Marzena Gajecka; Lisa Shaffer
Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
American journal of medical genetics. Part A 2008;146A(13):1637-54.
2008: Susan L Christian; Camille W. Brune; Jyotsna Sudi; Ravinesh A Kumar; Shaung Liu; Samer Karamohamed; Judith A Badner; Seiichi Matsui; Jeffrey Conroy; Devin McQuaid; James Gergel; Eli Hatchwell; T Conrad Gilliam; Elliot S Gershon; Norma J Nowak; William B Dobyns; Edwin H Cook
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Biological psychiatry 2008;63(12):1111-7.
2008: Elisa Merello; Eric Swanson; Patrizia De Marco; Murtaza Akhter; Pasquale Striano; Andrea Rossi; Armando Cama; Richard J Leventer; Renzo Guerrini; Valeria Capra; William B Dobyns
No major role for the EMX2 gene in schizencephaly.
American journal of medical genetics. Part A 2008;146A(9):1142-50.
2008: Ali Jalali; Kimberly A Aldinger; Ajit Chary; David G McLone; Robin M Bowman; Luan Cong Le; Phillip Jardine; Ruth Newbury-Ecob; Andrew Mallick; Nadereh Jafari; Eric J Russell; John Curran; Pam Nguyen; Karim Ouahchi; Charles Lee; William B Dobyns; Kathleen J Millen; Joao M Pina-Neto; John A Kessler; Alexander G Bassuk
Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity.
Human genetics 2008;123(3):237-45.
2008: Renzo Guerrini; William B Dobyns; A James Barkovich
Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options.
Trends in neurosciences 2008;31(3):154-62.
2008: Ravinesh Kumar; Samer Karamohamed; Jyotsna Sudi; Donald F Conrad; Camille W. Brune; Judith A Badner; T Conrad Gilliam; Norma J Nowak; Edwin H Cook; William B Dobyns; Susan L Christian
Recurrent 16p11.2 microdeletions in autism.
Human molecular genetics 2008;17(4):628-38.
2008: Maha S Zaki; A Abdel-Aleem; Ghada M H Abdel-Salam; Sarah E Marsh; Jennifer L Silhavy; A James Barkovich; M Elizabeth Ross; Sahar Saleem; William B Dobyns; Joseph G Gleeson
The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families.
Neurology 2008;70(7):556-65.
2008: Richard J Leventer; Renzo Guerrini; William B Dobyns
Malformations of cortical development and epilepsy.
Dialogues in clinical neuroscience 2008;10(1):47-62.
2007: Ute Moog; Marilyn C Jones; David H Viskochil; Alain Verloes; Margot I Van Allen; William B Dobyns
Brain anomalies in encephalocraniocutaneous lipomatosis.
American journal of medical genetics. Part A 2007;143A(24):2963-72.
2007: Robert L Conway; Barry D Pressman; William B Dobyns; Moise Danielpour; John Lee; Pedro A Sanchez-Lara; Merlin G Butler; Elaine Zackai; Lindsey Campbell; Sulagna C Saitta; Carol L Clericuzio; Jeff M Milunsky; H Eugene Hoyme; Joseph Shieh; John B Moeschler; Barbara Crandall; Julie L Lauzon; David H Viskochil; Brian Harding; John M Graham
Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.
American journal of medical genetics. Part A 2007;143A(24):2981-3008.
2007: A James Barkovich; Kathleen J Millen; William B Dobyns
A developmental classification of malformations of the brainstem.
Annals of neurology 2007;62(6):625-39.
2007: Elena Boland; Jill Clayton-Smith; Victoria G Woo; Shane McKee; Forbes D C Manson; Livija Medne; Elaine Zackai; Eric A Swanson; David Fitzpatrick; Kathleen J Millen; Elliott H Sherr; William B Dobyns; Graeme C M Black
Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.
American journal of human genetics 2007;81(2):292-303.
2007: Ravinesh Kumar; Stephen Leach; R Bonaguro; J Chen; Daniel Yokom; Brett S. Abrahams; Laurie Seaver; Charles E Schwartz; William B Dobyns; Angela R Brooks-Wilson; Elizabeth M Simpson
Mutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformations.
Genes, brain, and behavior 2007;6(6):503-16.
2007: Mark O'Driscoll; William B Dobyns; Johanna M van Hagen; Penny A Jeggo
Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling.
American journal of human genetics 2007;81(1):77-86.
2007: Maha Zaki; Marwa Shehab; Alice Abd El-Aleem; Ghada M H Abdel-Salam; Hajira B Koeller; Yesim Ilkin; M Elizabeth Ross; William B Dobyns; Joseph G Gleeson
Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.
American journal of medical genetics. Part A 2007;143A(9):939-44.
2007: Vincent Cantagrel; Anne-Marie Lossi; Steven Lisgo; Chantal Missirian; Ana Borges; Nicole Philip; Carla Fernandez; Carlos Cardoso; Dominique Figarella-Branger; Anne Moncla; Susan Lindsay; William B Dobyns; Laurent Villard
Truncation of NHEJ1 in a patient with polymicrogyria.
Human mutation 2007;28(4):356-64.
2007: Allison Brashear; William B Dobyns; Patricia de Carvalho Aguiar; Michel Borg; C J M Frijns; Seema Gollamudi; Andrew Green; João Guimaraes; Bret C Haake; Christine Klein; Gurutz Linazasoro; Alexander Münchau; Deborah Raymond; David Riley; Rachel Saunders-Pullman; Marina A J Tijssen; David Webb; Jacek Zaremba; Susan Bressman; Laurie J Ozelius
The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.
Brain : a journal of neurology 2007;130(Pt 3):828-35.
2006: Nathaniel H Robin; Clare J Taylor; Donna M McDonald-McGinn; Elaine H Zackai; Peter M Bingham; Kevin J Collins; Dawn Earl; Deepak Gill; Tiziana Granata; Renzo Guerrini; Naomi Katz; Virginia E Kimonis; Jean-Pierre Lin; David R Lynch; Shehla N Mohammed; Roger F Massey; Marie McDonald; R. Curtis Rogers; Miranda Splitt; Cathy A Stevens; Marc Tischkowitz; Neil Stoodley; Richard J Leventer; Daniela T Pilz; William B Dobyns
Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.
American journal of medical genetics. Part A 2006;140(22):2416-25.
2006: Robert D Martin; Ann M MacLarnon; James L Phillips; William B Dobyns
Flores hominid: new species or microcephalic dwarf?
The anatomical record. Part A, Discoveries in molecular, cellular, and evolutionary biology 2006;288(11):1123-45.
2006: Elena Parrini; A Ramazzotti; William B Dobyns; Davide Mei; Francesca Moro; Pierangelo Veggiotti; Carla Marini; E H Brilstra; Bernardo Dalla Bernardina; L Goodwin; A Bodell; M C Jones; M Nangeroni; S Palmeri; E Said; Josemir W. Sander; Pasquale Striano; Yukitoshi Takahashi; L Van Maldergem; G Leonardi; M Wright; Christopher Walsh; Renzo Guerrini
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.
Brain : a journal of neurology 2006;129(Pt 7):1892-906.
2006: R D Martin; Ann M MacLarnon; J L Phillips; L Dussubieux; P R Williams; William B Dobyns
Comment on "The Brain of LB1, Homo floresiensis".
Science (New York, N.Y.) 2006;312(5776):999; author reply 999.
2006: William B Dobyns
The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked.
Acta paediatrica (Oslo, Norway : 1992). Supplement 2006;95(451):11-5.
2006: Jack W Tsao; Jason Neal; Kira Apse; Mark J Stephan; William B Dobyns; R Sean Hill; Christopher Walsh; Volney L Sheen
Cerebellar ataxia with progressive improvement.
Archives of neurology 2006;63(4):594-7.
2006: Melissa A Parisi; Dan Doherty; Melissa L Eckert; Dennis W W Shaw; Hamit Ozyurek; Sabiha Aysun; O Giray; Abdulrahman Alswaid; S Al Shahwan; N Dohayan; E Bakhsh; O S Indridason; William B Dobyns; Craig L Bennett; Phillip F Chance; Ian A Glass
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.
Journal of medical genetics 2006;43(4):334-9.
2006: Enza Maria Valente; Francesco Brancati; Jennifer L Silhavy; Marco Castori; Sarah E Marsh; Giuseppe Barrano; Enrico Bertini; Eugen Boltshauser; Maha S Zaki; Alice Abdel-Aleem; Ghada M H Abdel-Salam; Emanuele Bellacchio; Roberta Battini; Robert P Cruse; William B Dobyns; Kalpathy S Krishnamoorthy; Clotilde Lagier-Tourenne; Alex Magee; Ignacio Pascual-Castroviejo; Carmelo Damiano Salpietro; Dean Sarco; Bruno Dallapiccola; Joseph G Gleeson
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
Annals of neurology 2006;59(3):527-34.
2006: Jiri Vajsar; Wenli Zhang; William B Dobyns; Doug Biggar; Kenton R Holden; Cynthia Hawkins; Peter Ray; Ann H Olney; Catherine M Burson; Anand K Srivastava; Harry Schachter
Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts.
Neuromuscular disorders : NMD 2006;16(2):132-6.
2005: Gretchen Wieck; Richard J Leventer; Waney M Squier; An Jansen; Eva Andermann; Francois Dubeau; Anna Ramazzotti; Renzo Guerrini; William B Dobyns
Periventricular nodular heterotopia with overlying polymicrogyria.
Brain : a journal of neurology 2005;128(Pt 12):2811-21.
2005: Ute Moog; M C Jones; L M Bird; William B Dobyns
Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype.
Journal of medical genetics 2005;42(12):913-21.
2005: Xianhua Piao; Bernard S Chang; Adria Bodell; Katelyn Woods; Bruria Benzeev; Meral Topcu; Renzo Guerrini; Hadassa Goldberg-Stern; László Sztriha; William B Dobyns; A James Barkovich; Christopher Walsh
Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.
Annals of neurology 2005;58(5):680-7.
2005: Mark S Forman; Waney Squier; William B Dobyns; Jeffrey A Golden
Genotypically defined lissencephalies show distinct pathologies.
Journal of neuropathology and experimental neurology 2005;64(10):847-57.
2005: Sandra L Gilbert; William B Dobyns; Bruce T Lahn
Genetic links between brain development and brain evolution.
Nature reviews. Genetics 2005;6(7):581-90.
2005: Mitsuhiro Kato; William B Dobyns
X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy".
Journal of child neurology 2005;20(4):392-7.
2005: Maclean M Pancoast; William B Dobyns; Jeffrey A Golden
Interneuron deficits in patients with the Miller-Dieker syndrome.
Acta neuropathologica 2005;109(4):400-4.
2005: Sophie C Currier; Christine K Lee; Bernard S Chang; Adria Bodell; G Shashidhar Pai; Leela Job; Lieven Lagae; Lihadh Al-Gazali; Wafaa Eyaid; Greg Enns; William B Dobyns; Christopher Walsh
Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.
American journal of medical genetics. Part A 2005;133A(1):53-7.
2004: Charlotta Diesen; Anne Juvonen; Helena Pihko; C Rosenlew; Bru Cormand; William B Dobyns; J Dieguez; Leena Valanne; Tarja Joensuu; Anna-Elina Lehesjoki
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.
Journal of medical genetics 2004;41(10):e115.
2004: Inessa Grinberg; Hope Northrup; Holly Ardinger; Chitra Prasad; William B Dobyns; Kathleen J Millen
Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation.
Nature genetics 2004;36(10):1053-5.
2004: William B Dobyns; Allison Filauro; Brett N Tomson; April S Chan; Allen W Ho; Nicholas T Ting; Jan C Oosterwijk; Carole Ober
Inheritance of most X-linked traits is not dominant or recessive, just X-linked.
American journal of medical genetics. Part A 2004;129A(2):136-43.
2004: John M Graham; Raoul Hennekam; William B Dobyns; Elizabeth Roeder; David Busch
MICRO syndrome: an entity distinct from COFS syndrome.
American journal of medical genetics. Part A 2004;128A(3):235-45.
2004: Patricia de Carvalho Aguiar; Kathleen J Sweadner; John Penniston; Jacek Zaremba; Liu Liu; Marsha Caton; Gurutz Linazasoro; Michel Borg; Marina A J Tijssen; Susan Bressman; William B Dobyns; Allison Brashear; Laurie J Ozelius
Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.
Neuron 2004;43(2):169-75.
2004: Renzo Guerrini; Davide Mei; S Sisodiya; Federico Sicca; B Harding; Yukitoshi Takahashi; Thomas Dorn; A Yoshida; J Campistol; G Krämer; Francesca Moro; William B Dobyns; Elena Parrini
Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.
Neurology 2004;63(1):51-6.
2004: Christoph Kamm; Joanne Leung; Soni Joseph; William B Dobyns; Allison Brashear; Xandra O Breakefield; Laurie J Ozelius
Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene.
Movement disorders : official journal of the Movement Disorder Society 2004;19(7):845-7.
2004: Melissa A Parisi; Craig L Bennett; Melissa L Eckert; William B Dobyns; Joseph G Gleeson; Dennis W W Shaw; Ruth McDonald; Allison A Eddy; Phillip F Chance; Ian A Glass
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
American journal of human genetics 2004;75(1):82-91.
2004: D Beltran-Valero de Bernabé; Thomas Voit; Cheryl Longman; Alice Steinbrecher; Volker Straub; Yeliz Yuva; Ralf Herrmann; J Sperner; C Korenke; Charlotta Diesen; William B Dobyns; H G Brunner; H van Bokhoven; Martin Brockington; Francesco Muntoni
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.
Journal of medical genetics 2004;41(5):e61.
2004: Xianhua Piao; R Sean Hill; Adria Bodell; Bernard S Chang; Lina Basel-Vanagaite; Rachel Straussberg; William B Dobyns; Bassam Qasrawi; Robin M Winter; A Micheil Innes; Thomas Voit; M Elizabeth Ross; Jacques L Michaud; Jean-Claude Déscarie; A James Barkovich; Christopher Walsh
G protein-coupled receptor-dependent development of human frontal cortex.
Science (New York, N.Y.) 2004;303(5666):2033-6.
2004: Catherine E Keegan; Eric Vilain; Mansoor Mohammed; Jessica A Lehoczky; William B Dobyns; Steven M Archer; Jeffrey W Innis
Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal.
American journal of medical genetics. Part A 2004;125A(3):293-8.
2004: Joseph G Gleeson; Lesley C Keeler; Melissa A Parisi; Sarah E Marsh; Phillip F Chance; Ian A Glass; John M Graham Jr; Bernard L Maria; A James Barkovich; William B Dobyns
Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.
American journal of medical genetics. Part A 2004;125A(2):125-34; discussion 117.
2004: Cathy A Stevens; William B Dobyns
Septo-optic dysplasia and amniotic bands: further evidence for a vascular pathogenesis.
American journal of medical genetics. Part A 2004;125A(1):12-6.
2004: Philip F Giampietro; Deepti Babu; Monica A Koehn; Daniel M Jacobson; Karla A Mueller-Schrader; Cara Moretti; Stella F Patten; Lisa Shaffer; Robert J Gorlin; William B Dobyns
New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria.
American journal of medical genetics. Part A 2004;124A(2):202-8.
2004: Sandra L Gilbert; Fatih Ozdag; Umit Hidir Ulas; William B Dobyns; Bruce T Lahn
Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families.
Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology 2004;8(3):151-5.
2003: E P Leeflang; Sarah E Marsh; Elena Parrini; Francesca Moro; Daniela T Pilz; William B Dobyns; Renzo Guerrini; J W Wheless; Joseph G Gleeson
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 2003;40(12):e128.
2003: Helga V Toriello; John C Carey; Marie-Claude Addor; William Allen; Leah Burke; Nicole Chun; William B Dobyns; Ellen Elias; Renata Gallagher; Roel Hordijk; Gene Hoyme; Mira Irons; Tamison Jewett; Martine LeMerrer; Mark Lubinsky; Rick Martin; Donna McDonald-McGinn; Luitgard Neumann; William Newman; Richard Pauli; Laurie Seaver; Anna Tsai; David Wargowsky; Marc Williams; Elaine Zackai
Toriello-Carey syndrome: delineation and review.
American journal of medical genetics. Part A 2003;123A(1):84-90.
2003: D Beltrán-Valero de Bernabé; Hans van Bokhoven; Ellen van Beusekom; W Van den Akker; S Kant; William B Dobyns; Bru Cormand; S Currier; B Hamel; Beril Talim; H Topaloglu; Han G Brunner
A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.
Journal of medical genetics 2003;40(11):845-8.
2003: Federico Sicca; A Kelemen; Pierre Genton; S Das; Davide Mei; Francesca Moro; William B Dobyns; Renzo Guerrini
Mosaic mutations of the LIS1 gene cause subcortical band heterotopia.
Neurology 2003;61(8):1042-6.
2003: Melissa A Parisi; William B Dobyns
Human malformations of the midbrain and hindbrain: review and proposed classification scheme.
Molecular genetics and metabolism 2003;80(1-2):36-53.
2003: M Kato; S Das; K Petras; Y Sawaishi; William B Dobyns
Polyalanine expansion of ARX associated with cryptogenic West syndrome.
Neurology 2003;61(2):267-76.
2003: Wenli Zhang; Jiri Vajsar; Pinjiang Cao; Galen Breningstall; Charlotta Diesen; William B Dobyns; Ralph Herrmann; Anna-Elina Lehesjoki; Alice Steinbrecher; Beril Talim; Tatsushi Toda; Haluk Topaloglu; Thomas Voit; Harry Schachter
Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents.
Clinical biochemistry 2003;36(5):339-44.
2003: Renzo Guerrini; Francesca Moro; Eva Andermann; Elaine Hughes; Daniela D'Agostino; Rosalba Carrozzo; Andrea Bernasconi; Frances Flinter; Lucio Parmeggiani; Anna Volzone; Elena Parrini; Davide Mei; Jozef M Jarosz; Robin G Morris; Polly Pratt; Gaetano Tortorella; François Dubeau; Frederick Andermann; William B Dobyns; Soma Das
Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations.
Annals of neurology 2003;54(1):30-7.
2003: Melissa B Ramocki; James Dowling; Inessa Grinberg; Virginia E Kimonis; Carlos Cardoso; Alyssa Gross; June Chung; Christa Lese Martin; David Ledbetter; William B Dobyns; Kathleen J Millen
Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32.
European journal of human genetics : EJHG 2003;11(7):527-34.
2003: Kazuhito Toyo-Oka; Aki Shionoya; Michael J Gambello; Carlos Cardoso; Richard J Leventer; Heather L Ward; Ramses Ayala; Li-Huei Tsai; William B Dobyns; David Ledbetter; Shinji Hirotsune; Anthony Wynshaw-Boris
14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome.
Nature genetics 2003;34(3):274-85.
2003: Nicole Philip; Brigitte Chabrol; Anne-Marie Lossi; Carlos Cardoso; R Guerrini; William B Dobyns; C Raybaud; Laurent Villard
Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia.
Journal of medical genetics 2003;40(6):441-6.
2003: Bernard S Chang; Xianhua Piao; Adria Bodell; Lina Basel-Vanagaite; Rachel Straussberg; William B Dobyns; Bassam Qasrawi; Robin M Winter; A Micheil Innes; Thomas Voit; P Ellen Grant; A James Barkovich; Christopher Walsh
Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.
Annals of neurology 2003;53(5):596-606.
2003: Mitsuhiro Kato; William B Dobyns
Lissencephaly and the molecular basis of neuronal migration.
Human molecular genetics 2003;12 Spec No 1():R89-96.
2003: Carlos Cardoso; Richard J Leventer; Heather L Ward; Kazuhito Toyo-Oka; June Chung; Alyssa Gross; Christa Lese Martin; Judith E Allanson; Daniela T Pilz; Ann H Olney; Osvaldo M Mutchinick; Shinji Hirotsune; Anthony Wynshaw-Boris; William B Dobyns; David Ledbetter
Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.
American journal of human genetics 2003;72(4):918-30.
2002: Kunio Kitamura; Masako Yanazawa; Noriyuki Sugiyama; Hirohito Miura; Akiko Iizuka-Kogo; Masatomo Kusaka; Kayo Omichi; Rika Suzuki; Yuko Kato-Fukui; Kyoko Kamiirisa; Mina Matsuo; Shin-ichi Kamijo; Megumi Kasahara; Hidefumi Yoshioka; Tsutomu Ogata; Takayuki Fukuda; Ikuko Kondo; Mitsuhiro Kato; William B Dobyns; Minesuke Yokoyama; Ken-ichirou Morohashi
Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.
Nature genetics 2002;32(3):359-69.
2002: William B Dobyns
Primary microcephaly: new approaches for an old disorder.
American journal of medical genetics 2002;112(4):315-7.
2002: Daniel Beltrán-Valero de Bernabé; Sophie Currier; Alice Steinbrecher; Jacopo Celli; Ellen van Beusekom; Bert van der Zwaag; Hulya Kayserili; Luciano Merlini; David Chitayat; William B Dobyns; Bru Cormand; Anna-Elina Lehesjoki; Jesús Cruces; Thomas Voit; Christopher Walsh; Hans van Bokhoven; Han G Brunner
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
American journal of human genetics 2002;71(5):1033-43.
2002: Christa Lese Martin; Darrel J Waggoner; Andrew Wong; S Uhrig; Jessica A Roseberry; J F Hedrick; Svetlana D Pack; K Russell; E Zackai; William B Dobyns; David Ledbetter
"Molecular rulers" for calibrating phenotypic effects of telomere imbalance.
Journal of medical genetics 2002;39(10):734-40.
2002: Nicholas P Poolos; S Das; Gary D Clark; D Lardizabal; Jeffrey L Noebels; Elaine Wyllie; William B Dobyns
Males with epilepsy, complete subcortical band heterotopia, and somatic mosaicism for DCX.
Neurology 2002;58(10):1559-62.
2002: Laurent Villard; Karine Nguyen; Carlos Cardoso; Christa Lese Martin; Ann M Weiss; Mara Sifry-Platt; Arthur W Grix; John M Graham; Robin M Winter; Richard J Leventer; William B Dobyns
A locus for bilateral perisylvian polymicrogyria maps to Xq28.
American journal of human genetics 2002;70(4):1003-8.
2002: Carlos Cardoso; Richard J Leventer; James Dowling; Heather L Ward; June Chung; Kristin S Petras; Jessica A Roseberry; Ann M Weiss; Soma Das; Christa Lese Martin; Daniela T Pilz; William B Dobyns; David Ledbetter
Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).
Human mutation 2002;19(1):4-15.
2001: Richard J Leventer; Carlos Cardoso; David Ledbetter; William B Dobyns
LIS1: from cortical malformation to essential protein of cellular dynamics.
Trends in neurosciences 2001;24(9):489-92.
2001: Volney L Sheen; Peter DIxon; JW Fox; Susan E Hong; L Kinton; S M Sisodiya; J S Duncan; F Dubeau; IE Scheffer; Steven C Schachter; Andrew Wilner; R Henchy; P Crino; K Kamuro; F DiMario; M Berg; R Kuzniecky; A J Cole; Edward B Bromfield; M Biber; Donald L Schomer; James W Wheless; K Silver; G H Mochida; SF Berkovic; F Andermann; Eva Andermann; William B Dobyns; Nicholas W Wood; Christopher Walsh
Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females.
Human molecular genetics 2001;10(17):1775-83.
2001: Richard J Leventer; Carlos Cardoso; David Ledbetter; William B Dobyns
LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.
Neurology 2001;57(3):416-22.
2001: L Demelas; G Serra; M Conti; A Achene; C Mastropaolo; N Matsumoto; LL Dudlicek; PL Mills; William B Dobyns; David Ledbetter; S Das
Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene.
Neurology 2001;57(2):327-30.
2001: N Matsumoto; Richard J Leventer; JA Kuc; Stephanie Mewborn; LL Dudlicek; Melissa B Ramocki; Daniela T Pilz; PL Mills; Soma Das; M Elizabeth Ross; David Ledbetter; William B Dobyns
Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.
European journal of human genetics : EJHG 2001;9(1):5-12.
2001: P Ungaro; Susan L Christian; Judy A Fantes; Apiwat Mutirangura; S Black; J Reynolds; S Malcolm; William B Dobyns; David Ledbetter
Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.
Journal of medical genetics 2001;38(1):26-34.
2000: Carlos Cardoso; Richard J Leventer; N Matsumoto; JA Kuc; Melissa B Ramocki; Stephanie Mewborn; LL Dudlicek; L F May; PL Mills; Soma Das; Daniela T Pilz; William B Dobyns; David Ledbetter
The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.
Human molecular genetics 2000;9(20):3019-28.
2000: Tina Young Poussaint; JW Fox; William B Dobyns; R Radtke; IE Scheffer; SF Berkovic; Patrick D Barnes; PR Huttenlocher; Christopher Walsh
Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings.
Pediatric radiology 2000;30(11):748-55.
2000: Joseph G Gleeson; Sharon Minnerath; R I Kuzniecky; William B Dobyns; I D Young; M Elizabeth Ross; Christopher Walsh
Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes.
American journal of human genetics 2000;67(3):574-81.
2000: Marilisa M Guerreiro; Eva Andermann; Renzo Guerrini; William B Dobyns; R Kuzniecky; K Silver; P Van Bogaert; C Gillain; P David; Giovanni Ambrosetto; A Rosati; F Bartolomei; A Parmeggiani; Ritva Paetau; O Salonen; Jaakko Ignatius; Renato Borgatti; Claudio Zucca; Alexandre C Bastos; André Palmini; W Fernandes; M A Montenegro; F Cendes; Frederick Andermann
Familial perisylvian polymicrogyria: a new familial syndrome of cortical maldevelopment.
Annals of neurology 2000;48(1):39-48.
2000: Richard J Leventer; Daniela T Pilz; N Matsumoto; David Ledbetter; William B Dobyns
Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis.
Molecular medicine today 2000;6(7):277-84.
2000: K J Sweeney; Gary D Clark; Alexander Prokscha; William B Dobyns; Gregor Eichele
Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development.
Mechanisms of development 2000;92(2):263-71.
2000: Joseph G Gleeson; R F Luo; P Ellen Grant; Renzo Guerrini; PR Huttenlocher; M J Berg; S Ricci; R Cusmai; James W Wheless; SF Berkovic; IE Scheffer; William B Dobyns; Christopher Walsh
Genetic and neuroradiological heterogeneity of double cortex syndrome.
Annals of neurology 2000;47(2):265-9.
2000: Richard J Leventer; PL Mills; William B Dobyns
X-linked malformations of cortical development.
American journal of medical genetics 2000;97(3):213-20.
1999: B Kerner; John M Graham; J A Golden; Samuel H Pepkowitz; William B Dobyns
Familial lissencephaly with cleft palate and severe cerebellar hypoplasia.
American journal of medical genetics 1999;87(5):440-5.
1999: William B Dobyns; E Berry-Kravis; N J Havernick; Kenton R Holden; D Viskochil
X-linked lissencephaly with absent corpus callosum and ambiguous genitalia.
American journal of medical genetics 1999;86(4):331-7.
1999: Phillip F Chance; L Cavalier; D Satran; JE Pellegrino; M Koenig; William B Dobyns
Clinical nosologic and genetic aspects of Joubert and related syndromes.
Journal of child neurology 1999;14(10):660-6; discussion 669-72.
1999: Daniela T Pilz; JA Kuc; N Matsumoto; J Bodurtha; B Bernadi; C A Tassinari; William B Dobyns; David Ledbetter
Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.
Human molecular genetics 1999;8(9):1757-60.
1999: William B Dobyns; C L Truwit; M Elizabeth Ross; N Matsumoto; Daniela T Pilz; David Ledbetter; Joseph G Gleeson; Christopher Walsh; A J Barkovich
Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly.
Neurology 1999;53(2):270-7.
1999: Joseph G Gleeson; Sharon Minnerath; JW Fox; Kristina M Allen; R F Luo; Susan E Hong; M J Berg; R Kuzniecky; Pamela Reitnauer; Renato Borgatti; A P Mira; Renzo Guerrini; Gregory L Holmes; C M Rooney; SF Berkovic; IE Scheffer; edward cooper; S Ricci; R Cusmai; Thomas Crawford; R Leroy; Eva Andermann; James W Wheless; William B Dobyns; Christopher Walsh
Characterization of mutations in the gene doublecortin in patients with double cortex syndrome.
Annals of neurology 1999;45(2):146-53.
1999: Lisa A Schimmenti; HH Shim; J D Wirtschafter; V A Panzarino; C E Kashtan; SJ Kirkpatrick; DS Wargowski; T D France; E Michel; William B Dobyns
Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome.
Human mutation 1999;14(5):369-76.
1999: Renzo Guerrini; E Andermann; Massimo Avoli; William B Dobyns
Cortical dysplasias, genetics, and epileptogenesis.
Advances in neurology 1999;79():95-121.
1999: D W Webb; A Broderick; Allison Brashear; William B Dobyns
Rapid onset dystonia-parkinsonism in a 14-year-old girl.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 1999;3(4):171-3.
1998: JW Fox; E D Lamperti; Y Z Ekşioğlu; Susan E Hong; Yuanyi Feng; D A Graham; IE Scheffer; William B Dobyns; B A Hirsch; R A Radtke; SF Berkovic; PR Huttenlocher; Christopher Walsh
Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.
Neuron 1998;21(6):1315-25.
1998: Daniela T Pilz; N Matsumoto; Sharon Minnerath; P Mills; Joseph G Gleeson; Kristina M Allen; Christopher Walsh; A J Barkovich; William B Dobyns; David Ledbetter; M Elizabeth Ross
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.
Human molecular genetics 1998;7(13):2029-37.
1998: Daniela T Pilz; ME Macha; KS Precht; A C Smith; William B Dobyns; David Ledbetter
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 1998;1(1):29-33.
1998: Renzo Guerrini; William B Dobyns
Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation.
Neurology 1998;51(2):499-503.
1998: Allison Brashear; I J Butler; K Hyland; Martin R Farlow; William B Dobyns
Cerebrospinal fluid homovanillic acid levels in rapid-onset dystonia-parkinsonism.
Annals of neurology 1998;43(4):521-6.
1998: Joseph G Gleeson; Kristina M Allen; JW Fox; E D Lamperti; SF Berkovic; IE Scheffer; edward cooper; William B Dobyns; Sharon Minnerath; M Elizabeth Ross; Christopher Walsh
Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein.
Cell 1998;92(1):63-72.
1998: Allison Brashear; I J Butler; L J Ozelius; P I Kramer; Martin R Farlow; X O Breakefield; William B Dobyns
Rapid-onset dystonia-parkinsonism: a report of clinical, biochemical, and genetic studies in two families.
Advances in neurology 1998;78():335-9.
1997: William B Dobyns; R Guerrini; D K Czapansky-Beilman; ME Pierpont; G Breningstall; D H Yock; P Bonanni; C L Truwit
Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome.
Neurology 1997;49(4):1042-7.
1997: J M Fink; William B Dobyns; R Guerrini; B A Hirsch
Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia.
American journal of human genetics 1997;61(2):379-87.
1997: CA Moore; Helga V Toriello; DN Abuelo; MJ Bull; Cynthia J Curry; B D Hall; J V Higgins; CA Stevens; S Twersky; Rosanna Weksberg; William B Dobyns
Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities.
American journal of medical genetics 1997;70(1):67-73.
1997: Allison Brashear; D DeLeon; Susan Bressman; Dominic Thyagarajan; Martin R Farlow; William B Dobyns
Rapid-onset dystonia-parkinsonism in a second family.
Neurology 1997;48(4):1066-9.
1997: M Elizabeth Ross; Kristina M Allen; A K Srivastava; T Featherstone; Joseph G Gleeson; B Hirsch; B N Harding; Eva Andermann; R Abdullah; M Berg; D Czapansky-Bielman; D J Flanders; Renzo Guerrini; J Motté; A P Mira; IE Scheffer; SF Berkovic; F Scaravilli; R A King; David Ledbetter; David Schlessinger; William B Dobyns; Christopher Walsh
Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain.
Human molecular genetics 1997;6(4):555-62.
1997: Olga Zhuchenko; J Bailey; Penelope E Bonnen; Tetsuo Ashizawa; David Wayne Stockton; Christopher I Amos; William B Dobyns; S H Subramony; Huda Y Zoghbi; Cheng Chi Lee
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
Nature genetics 1997;15(1):62-9.
1996: Stewart H Mostofsky; Peter A Blasco; I J Butler; William B Dobyns
Autosomal dominant torsion dystonia with onset in infancy.
Pediatric neurology 1996;15(3):245-8.
1996: William B Dobyns; E Andermann; Frederick Andermann; D Czapansky-Beilman; F Dubeau; Olivier Dulac; R Guerrini; B Hirsch; David Ledbetter; N S Lee; J Motte; J M Pinard; R A Radtke; M Elizabeth Ross; Donatella Tampieri; Christopher Walsh; Charles L Truwit
X-linked malformations of neuronal migration.
Neurology 1996;47(2):331-9.
1996: P Sanyanusin; Lisa A Schimmenti; T A McNoe; TA Ward; ME Pierpont; M J Sullivan; William B Dobyns; Michael Eccles
Mutation of the gene in a family with optic nerve colobomas, renal anomolies and vesicoureteral reflux.
Nature genetics 1996;13(1):129.
1996: William B Dobyns; M A Patton; R F Stratton; Joan M Mastrobattista; S Blanton; Hope Northrup
Cobblestone lissencephaly with normal eyes and muscle.
Neuropediatrics 1996;27(2):70-5.
1996: Allison Brashear; Martin R Farlow; I J Butler; E J Kasarskis; William B Dobyns
Variable phenotype of rapid-onset dystonia-parkinsonism.
Movement disorders : official journal of the Movement Disorder Society 1996;11(2):151-6.
1995: Lisa A Schimmenti; ME Pierpont; B L Carpenter; C E Kashtan; M R Johnson; William B Dobyns
Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.
American journal of medical genetics 1995;59(2):204-8.
1995: William B Dobyns; Charles L Truwit
Lissencephaly and other malformations of cortical development: 1995 update.
Neuropediatrics 1995;26(3):132-47.
1995: P Sanyanusin; Lisa A Schimmenti; LA McNoe; TA Ward; ME Pierpont; M J Sullivan; William B Dobyns; Michael Eccles
Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.
Nature genetics 1995;9(4):358-64.
1995: N N Dodge; William B Dobyns
Agenesis of the corpus callosum and Dandy-Walker malformation associated with hemimegalencephaly in the sebaceous nevus syndrome.
American journal of medical genetics 1995;56(2):147-50.
1993: William B Dobyns; Orly Reiner; R Carrozzo; David Ledbetter
Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.
JAMA : the journal of the American Medical Association 1993;270(23):2838-42.
1993: PG Wheeler; William B Dobyns; David A Plager; F D Ellis
Familial remitting chorea, nystagmus, and cataracts.
American journal of medical genetics 1993;47(8):1215-7.
1993: William B Dobyns; Laurie J Ozelius; Patricia L Kramer; Allison Brashear; Martin R Farlow; T R Perry; L E Walsh; E J Kasarskis; I J Butler; X O Breakefield
Rapid-onset dystonia-parkinsonism.
Neurology 1993;43(12):2596-602.
1993: PG Wheeler; David D Weaver; William B Dobyns
Benign hereditary chorea.
Pediatric neurology 1993;9(5):337-40.
1993: Orly Reiner; R Carrozzo; Y Shen; M Wehnert; F Faustinella; William B Dobyns; CT Caskey; David Ledbetter
Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats.
Nature 1993;364(6439):717-21.
1993: William B Dobyns
Classification of the cerebro-oculo-muscular syndrome(s). Commentary to Kimura's paper (pp. 182-91)
Brain & development 1993;15(3):242-4.
1992: Hope Northrup; D J Kwiatkowski; E Steve Roach; William B Dobyns; R A Lewis; G E Herman; E Rodriguez; Stephen P Daiger; S Blanton
Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere.
American journal of human genetics 1992;51(4):709-20.
1992: William B Dobyns; E R Elias; A C Newlin; R A Pagon; David Ledbetter
Causal heterogeneity in isolated lissencephaly.
Neurology 1992;42(7):1375-88.
1992: Susan Airhart; A Kuwano; William B Dobyns; David Ledbetter
Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly.
American journal of human genetics 1992;50(1):182-9.
1991: F Greenberg; V Guzzetta; R Montes de Oca-Luna; R Ellen Magenis; A C Smith; S F Richter; I Kondo; William B Dobyns; Pragna I Patel; James R Lupski
Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).
American journal of human genetics 1991;49(6):1207-18.
1991: A Kuwano; Susan Airhart; William B Dobyns; B S Emanuel; David Ledbetter
Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization.
American journal of human genetics 1991;49(4):707-14.
1991: William B Dobyns; Cynthia J Curry; H E Hoyme; L Turlington; David Ledbetter
Clinical and molecular diagnosis of Miller-Dieker syndrome.
American journal of human genetics 1991;48(3):584-94.
1991: William B Dobyns; Bhuwan P Garg
Vascular abnormalities in epidermal nevus syndrome.
Neurology 1991;41(2 ( Pt 1)):276-8.
1990: J R Batanian; Susan Airhart; R K Wolff; Y Nakamura; Raymond White; William B Dobyns; David Ledbetter
Rapid diagnosis of Miller-Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction.
Human genetics 1990;85(5):555-9.
1988: P vanTuinen; William B Dobyns; D C Rich; K M Summers; T J Robinson; Y Nakamura; David Ledbetter
Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome.
American journal of human genetics 1988;43(5):587-96.