Publications by authors named "William B Dobyns"

99Publications

Recurrent constellations of embryonic malformations re-conceptualized as an overlapping group of disorders with shared pathogenesis.

Am J Med Genet A 2020 Sep 14. Epub 2020 Sep 14.

Division of Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61847DOI Listing
September 2020

Reply to Hsueh YP et al.

Eur J Hum Genet 2020 Aug 9;28(8):999. Epub 2020 Apr 9.

Department of Neurological Surgery, Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-020-0622-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7471462PMC
August 2020

Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features.

Eur J Paediatr Neurol 2020 May 4;26:46-60. Epub 2020 Mar 4.

Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, Israel; Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2020.03.001DOI Listing
May 2020

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.

Eur J Hum Genet 2020 Jun 31;28(6):770-782. Epub 2020 Jan 31.

Centre de Génétique et Centre de Référence Maladies Rares (Anomalies du Développement de l'Interrégion Est), Hôpital d'Enfants, CHU Dijon Bourgogne, Dijon, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-020-0571-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253452PMC
June 2020

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Brain 2020 01;143(1):55-68

Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awz379DOI Listing
January 2020

Immune Evasion Strategies Used by Zika Virus to Infect the Fetal Eye and Brain.

Viral Immunol 2020 Jan/Feb;33(1):22-37. Epub 2019 Nov 5.

Center for Innate Immunity and Immune Disease, University of Washington, Seattle, Washington.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/vim.2019.0082DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6978768PMC
November 2019

Duplication 2p16 is associated with perisylvian polymicrogyria.

Am J Med Genet A 2019 12 29;179(12):2343-2356. Epub 2019 Oct 29.

Department of Pediatrics (Genetics) and Neurology, University of Washington, and Seattle Children's Research Institute, Seattle, Washington.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61342DOI Listing
December 2019

SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature.

Am J Med Genet C Semin Med Genet 2019 12 23;181(4):509-518. Epub 2019 Oct 23.

Department of Medical Genetics, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, IMAGINE Institute, Necker Enfants Malades Hospital, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.c.31746DOI Listing
December 2019

Genotype correlates with clinical severity in PIK3CA-associated lymphatic malformations.

JCI Insight 2019 11 1;4(21). Epub 2019 Nov 1.

Center For Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, Washington, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1172/jci.insight.129884DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6948764PMC
November 2019

Subcortical heterotopic gray matter brain malformations: Classification study of 107 individuals.

Neurology 2019 10 4;93(14):e1360-e1373. Epub 2019 Sep 4.

From the Department of Clinical Genetics (R.O., G.M.S.M.), Erasmus MC University Medical Center, Rotterdam; Department of Genetics (R.O.), University Medical Center Utrecht, the Netherlands; Departments of Radiology and Biomedical Imaging and Neurology and Neurology (A.J.B.), University of California, San Francisco; Department of Neuroscience, Pharmacology and Child Health (R.G.), Children's Hospital A. Meyer and University of Florence, Italy; Center for Integrative Brain Research (W.B.D.), Seattle Children's Research Institute; and Departments of Pediatrics and Neurology (W.B.D.), University of Washington, Seattle.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000008200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6814414PMC
October 2019

Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR.

Am J Med Genet C Semin Med Genet 2019 12 23;181(4):582-590. Epub 2019 Aug 23.

University of Washington School of Medicine, Seattle, Washington.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.c.31736DOI Listing
December 2019

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Hum Mutat 2019 07 24;40(7):908-925. Epub 2019 Apr 24.

Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661012PMC
July 2019

Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.

Eur J Med Genet 2020 Jan 25;63(1):103624. Epub 2019 Jan 25.

Mendelics Genomic Analysis, CEP 04013-000, São Paulo, SP, Brazil; Neurogenetics, Neurology Department, Hospital das Clínicas da Universidade de São Paulo, São Paulo, SP, Brazil. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2019.01.014DOI Listing
January 2020

Rhombencephalosynapsis: Fused cerebellum, confused geneticists.

Am J Med Genet C Semin Med Genet 2018 12;178(4):432-439

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.c.31666DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6540982PMC
December 2018

An update on oculocerebrocutaneous (Delleman-Oorthuys) syndrome.

Am J Med Genet C Semin Med Genet 2018 12;178(4):414-422

Department of Pediatrics, University of Washington, Seattle, Washington.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.c.31667
Publisher Site
http://dx.doi.org/10.1002/ajmg.c.31667DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6501825PMC
December 2018

The Genetic Landscape of Cerebral Steno-Occlusive Arteriopathy and Stroke in Sickle Cell Anemia.

J Stroke Cerebrovasc Dis 2018 Nov 31;27(11):2897-2904. Epub 2018 Jul 31.

Departments of Neurology, University of Washington, Seattle, Washington; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2018.06.004DOI Listing
November 2018

PARD3 dysfunction in conjunction with dynamic HIPPO signaling drives cortical enlargement with massive heterotopia.

Genes Dev 2018 06 13;32(11-12):763-780. Epub 2018 Jun 13.

Developmental Biology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA.

View Article

Download full-text PDF

Source
http://genesdev.cshlp.org/lookup/doi/10.1101/gad.313171.118
Publisher Site
http://dx.doi.org/10.1101/gad.313171.118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6049519PMC
June 2018

Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1.

Eur J Hum Genet 2018 08 30;26(8):1132-1142. Epub 2018 Apr 30.

Neurogenetics Research Group, Reproduction Genetics and Regenerative Medicine Research Cluster, Vrije Universiteit Brussel, Brussels, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-018-0146-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057922PMC
August 2018

Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation.

Eur J Paediatr Neurol 2018 May 26;22(3):525-531. Epub 2017 Dec 26.

Fetal Neurology Clinic, Obstetrics-Gynecology Ultrasound Unit, Department of Obstetrics and Gynecology, Wolfson Medical Center, Holon and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Pediatric Neurology Unit, Wolfson Medical Center, Holon and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2017.12.012DOI Listing
May 2018

Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome.

Am J Med Genet A 2018 01 24;176(1):48-55. Epub 2017 Nov 24.

Department of Dermatology and Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38523DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5844264PMC
January 2018

Lissencephaly: Expanded imaging and clinical classification.

Am J Med Genet A 2017 Jun 25;173(6):1473-1488. Epub 2017 Apr 25.

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5526446PMC
June 2017

encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

J Med Genet 2017 07 4;54(7):460-470. Epub 2017 Apr 4.

Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2016-104509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656050PMC
July 2017

Comparison of brain MRI findings with language and motor function in the dystroglycanopathies.

Neurology 2017 Feb 13;88(7):623-629. Epub 2017 Jan 13.

From the Departments of Pediatrics (B.N.B., C.M.S., J.A.C., K.D.M.) and Neurology (K.D.M.), University of Iowa Carver College of Medicine; Center for Disabilities and Development (S.R.H.M., K.M.L.), University of Iowa Children's Hospital; Department of Communication Sciences and Disorders (A.M.W.), Department of Biostatistics, College of Public Health (M.B.Z.), University of Iowa, Iowa City; Departments of Pediatrics (Genetics) (W.B.D.) and Neurology (W.B.D.), University of Washington, Seattle; and Center for Integrative Brain Research (W.B.D.), Seattle Children's Research Institute, Seattle, WA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000003609DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5317381PMC
February 2017

Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.

Neuromuscul Disord 2016 11 19;26(11):744-748. Epub 2016 Sep 19.

Centre for Medical Research, The University of Western Australia and Harry Perkins Institute for Medical Research, Nedlands, Western Australia, Australia; Department of Diagnostic Genomics, Pathwest, Nedlands, Western Australia, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2016.09.009DOI Listing
November 2016

Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies.

J Pediatr 2016 Nov 15;178:233-240.e10. Epub 2016 Sep 15.

Department of Neurology, University of Rochester Medical Center, Rochester, NY; Departments of Pediatrics and Biomedical Genetics, University of Rochester Medical Center, Rochester, NY; Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, NY. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2016.08.032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5873956PMC
November 2016

Genetic Basis of Brain Malformations.

Mol Syndromol 2016 Sep 27;7(4):220-233. Epub 2016 Aug 27.

Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Department of Neuroscience, A. Meyer Children's Hospital, University of Florence, Florence, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000448639DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073505PMC
September 2016

Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22.

Am J Med Genet A 2017 Jan 12;173(1):245-249. Epub 2016 Oct 12.

Division of Genetic Medicine, Seattle Children's Hospital, Seattle, Washington.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37993DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5999866PMC
January 2017

Astroglial-Mediated Remodeling of the Interhemispheric Midline Is Required for the Formation of the Corpus Callosum.

Cell Rep 2016 10;17(3):735-747

Queensland Brain Institute, The University of Queensland, St. Lucia, QLD 4072, Australia; The School of Biomedical Sciences, The University of Queensland, St. Lucia, QLD 4072, Australia. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.celrep.2016.09.033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5094913PMC
October 2016

Catenin delta-1 (CTNND1) phosphorylation controls the mesenchymal to epithelial transition in astrocytic tumors.

Hum Mol Genet 2016 10 11;25(19):4201-4210. Epub 2016 Aug 11.

Barbara & Donald Jonas Stem Cell Laboratory, and Bernard & Shirlee Brown Glaucoma Laboratory, Departments of Ophthalmology, Pathology & Cell Biology, Institute of Human Nutrition, Irving Comprehensive Cancer Center, College of Physicians and Surgeons, Columbia University, New York, NY, USA

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddw253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5291196PMC
October 2016

Progress in autism research and postgenomic studies - Authors' reply.

Lancet Neurol 2016 02 12;15(2):136-137. Epub 2016 Jan 12.

Departments of Pediatrics and Neurology, University of Washington, and Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/S1474-4422(15)00403-2DOI Listing
February 2016

Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations.

J Med Genet 2016 06 15;53(6):427-30. Epub 2015 Dec 15.

Department of Pediatrics, University of California, San Francisco, San Francisco, California, USA Genetic Medicine Central California, Fresno, California, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2015-103476DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898782PMC
June 2016

Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy.

Elife 2015 Dec 3;4. Epub 2015 Dec 3.

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7554/eLife.12703DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4744197PMC
December 2015

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".

Am J Med Genet A 2016 02 14;170(2):547. Epub 2015 Nov 14.

Seattle Children's Research Institute, Center for Integrative Brain Research, Seattle, Washington.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37449DOI Listing
February 2016

Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.

Am J Med Genet A 2015 Dec 14;167A(12):3096-102. Epub 2015 Sep 14.

Department of Neurology, University of Rochester Medical Center, Rochester, New York.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37353DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4715619PMC
December 2015

Two Hundred Thirty-Six Children With Developmental Hydrocephalus: Causes and Clinical Consequences.

J Child Neurol 2016 Mar 16;31(3):309-20. Epub 2015 Jul 16.

Department of Neurology, University of Washington, Seattle, WA, USA Department of Pediatrics, University of Washington, Seattle, WA, USA Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0883073815592222DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4990005PMC
March 2016

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.

Hum Mol Genet 2015 Sep 30;24(18):5313-25. Epub 2015 Jun 30.

Department of Pediatrics, Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddv250DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4550818PMC
September 2015

Malformations of cortical development and epilepsy.

Cold Spring Harb Perspect Med 2015 May 1;5(5):a022392. Epub 2015 May 1.

Pediatric Neurology Unit and Laboratories, Children's Hospital A. Meyer, University of Florence, Florence 50139, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1101/cshperspect.a022392DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4448581PMC
May 2015

Progress in autism and related disorders of brain development.

Lancet Neurol 2015 Nov 16;14(11):1069-70. Epub 2015 Apr 16.

Department of Pediatrics and Department of Neurology, University of Washington, Seattle, WA 98145, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98145, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/S1474-4422(15)00048-4DOI Listing
November 2015

Semiquantitative analysis of hypothalamic damage on MRI predicts risk for hypothalamic obesity.

Obesity (Silver Spring) 2015 Jun 17;23(6):1226-33. Epub 2015 Apr 17.

Center for Integrative Brain Research, Seattle Children's Hospital & Research Institute, Seattle, Washington, USA.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5029599PMC
http://dx.doi.org/10.1002/oby.21067DOI Listing
June 2015

De novo mutations in SIK1 cause a spectrum of developmental epilepsies.

Am J Hum Genet 2015 Apr;96(4):682-90

Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, NY 14642, USA; Department of Neurology, University of Rochester Medical Center, Rochester, NY 14642, USA; Departments of Pediatrics and Biomedical Genetics, University of Rochester Medical Center, Rochester, NY 14642, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2015.02.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4385182PMC
April 2015

Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.

Epilepsia 2015 Mar 5;56(3):422-30. Epub 2015 Feb 5.

Departments of Neurology, Pediatrics, and Biomedical Genetics, University of Rochester Medical Center, Rochester, New York, U.S.A; Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, New York, U.S.A.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/epi.12914DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4363281PMC
March 2015