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William B. Dobyns, MD

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William B. Dobyns, MD

Genetics

On staff since August 2010

Research Center: Center for Integrative Brain Research

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

Making a Difference

  • Significant Recruits of 2010

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

  • Clues to Brain Growth Found

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

Recommendations

CarlosMexico City, Mexico02.26.11
Dr. Dobyns, after having the luck of finding him, through his guidance based in his knowledge and after a series of decissions, changed literally the quality of life of a human being and his entire family. But the most rare combination of all is, his wisdom and human care. In a scale from 1 to 10 my recommendation would be 11...!
Recommend Dr. William Dobyns

Overview

Board Certification(s)
Medical Biochemical Genetics
Psychiatry
Medical/Professional School
Mayo Medical School, Rochester
Residency
Pediatrics, Gundersen Medical Foundation - La Crosse Lutheran, La Crosse
Fellowship
Neurology, Baylor College of Medicine, Houston
Medical Biochemical Genetics, Mayo Graduate School of Medicine - Mayo Foundation, Rochester
Research Description

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

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

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

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

Research Focus Area

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

Publications

WDR62 is associated with the spindle pole and is mutated in human microcephaly.
Nature genetics , 2010 Oct 3
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.
Nature genetics , 2010 Oct 3
Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.
American journal of human genetics , 2010 Sep 10: 354-64
Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible?
American journal of medical genetics. Part A , 2010 Sep: 2268-76
Identification of genomic loci contributing to agenesis of the corpus callosum.
American journal of medical genetics. Part A , 2010 Sep: 2145-59
Pontocerebellar hypoplasia type 6: A British case with PEHO-like features.
American journal of medical genetics. Part A , 2010 Aug: 2079-84
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
Cell , 2010 Jul 23: 203-17
TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.
Human molecular genetics , 2010 Jul 15: 2817-27
Clinical and brain imaging heterogeneity of severe microcephaly.
Pediatric neurology , 2010 Jul: 7-16
Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?
American journal of medical genetics. Part A , 2010 Jul: 1621-6
Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency.
European journal of human genetics : EJHG , 2010 Jun 23
Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus.
American journal of medical genetics. Part A , 2010 Jun: 1488-97
A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism.
Journal of child neurology , 2010 Jun: 738-41
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients.
Brain : a journal of neurology , 2010 May: 1415-27
Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q.
European journal of pediatrics , 2010 Apr: 475-81
The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia.
Epilepsia , 2010 Feb: 5-9
A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism.
Journal of medical genetics , 2010 Feb: 81-90
Copy number and sequence variants implicate APBA2 as an autism candidate gene.
Autism research : official journal of the International Society for Autism Research , 2009 Dec: 359-64
A developmental and genetic classification for midbrain-hindbrain malformations.
Brain : a journal of neurology , 2009 Dec: 3199-230
FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.
Nature genetics , 2009 Sep: 1037-42
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 Jul: 911-8
A novel SIX3 mutation segregates with holoprosencephaly in a large family.
American journal of medical genetics. Part A , 2009 May: 919-25
Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes.
American journal of medical genetics. Part A , 2009 May: 868-76
Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.
American journal of medical genetics. Part A , 2009 Feb: 129-37
Association and mutation analyses of 16p11.2 autism candidate genes.
PloS one , 2009: e4582
A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation.
Human molecular genetics , 2008 Nov 15: 3446-58
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
Human mutation , 2008 Nov: E231-41
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
Nature genetics , 2008 Sep: 1065-7
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
Nature genetics , 2008 Aug 10
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
American journal of human genetics , 2008 Aug: 170-9
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
Clinical genetics , 2008 Aug: 164-70
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 Jul 1: 1637-54
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Biological psychiatry , 2008 Jun 15: 1111-7
No major role for the EMX2 gene in schizencephaly.
American journal of medical genetics. Part A , 2008 May 1: 1142-50
Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity.
Human genetics , 2008 Apr: 237-45
Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options.
Trends in neurosciences , 2008 Mar: 154-62
Recurrent 16p11.2 microdeletions in autism.
Human molecular genetics , 2008 Feb 15: 628-38
Malformations of cortical development and epilepsy.
Dialogues in clinical neuroscience , 2008: 47-62
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
Nature genetics , 2008 Jan: 32-4
Brain anomalies in encephalocraniocutaneous lipomatosis.
American journal of medical genetics. Part A , 2007 Dec 15: 2963-72
Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.
American journal of medical genetics. Part A , 2007 Dec 15: 2981-3008
A developmental classification of malformations of the brainstem.
Annals of neurology , 2007 Dec: 625-39
Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.
American journal of human genetics , 2007 Aug: 292-303
Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.
American journal of medical genetics. Part A , 2007 May 1: 939-44
Truncation of NHEJ1 in a patient with polymicrogyria.
Human mutation , 2007 Apr: 356-64
The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.
Brain : a journal of neurology , 2007 Mar: 828-35
Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.
American journal of medical genetics. Part A , 2006 Nov 15: 2416-25
Flores hominid: new species or microcephalic dwarf?
The anatomical record. Part A, Discoveries in molecular, cellular, and evolutionary biology , 2006 Nov: 1123-45
The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked.
Acta paediatrica (Oslo, Norway : 1992). Supplement , 2006 Apr: 11-5
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
Annals of neurology , 2006 Mar: 527-34
Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts.
Neuromuscular disorders : NMD , 2006 Feb: 132-6
Periventricular nodular heterotopia with overlying polymicrogyria.
Brain : a journal of neurology , 2005 Dec: 2811-21
Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.
Annals of neurology , 2005 Nov: 680-7
Genotypically defined lissencephalies show distinct pathologies.
Journal of neuropathology and experimental neurology , 2005 Oct: 847-57
Genetic links between brain development and brain evolution.
Nature reviews. Genetics , 2005 Jul: 581-90
X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy".
Journal of child neurology , 2005 Apr: 392-7
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.
Nature genetics , 2005 Mar: 221-3
Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.
American journal of medical genetics. Part A , 2005 Feb 15: 53-7
Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation.
Nature genetics , 2004 Oct: 1053-5
Inheritance of most X-linked traits is not dominant or recessive, just X-linked.
American journal of medical genetics. Part A , 2004 Aug 30: 136-43
MICRO syndrome: an entity distinct from COFS syndrome.
American journal of medical genetics. Part A , 2004 Jul 30: 235-45
Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.
Neuron , 2004 Jul 22: 169-75
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 Jul: 845-7
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
American journal of human genetics , 2004 Jul: 82-91
G protein-coupled receptor-dependent development of human frontal cortex.
Science (New York, N.Y.) , 2004 Mar 26: 2033-6
Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal.
American journal of medical genetics. Part A , 2004 Mar 15: 293-8
Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.
American journal of medical genetics. Part A , 2004 Mar 1: 125-34; discussion 117
Septo-optic dysplasia and amniotic bands: further evidence for a vascular pathogenesis.
American journal of medical genetics. Part A , 2004 Feb 15: 12-6
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
Human mutation , 2004 Feb: 147-59
New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria.
American journal of medical genetics. Part A , 2004 Jan 15: 202-8
Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families.
Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology , 2004: 151-5
Human malformations of the midbrain and hindbrain: review and proposed classification scheme.
Molecular genetics and metabolism , 2003 Sep-Oct: 36-53
Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations.
Annals of neurology , 2003 Jul: 30-7
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 Jul: 527-34
Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.
Annals of neurology , 2003 May: 596-606
Lissencephaly and the molecular basis of neuronal migration.
Human molecular genetics , 2003 Apr 1: R89-96
Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.
American journal of human genetics , 2003 Apr: 918-30
Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females.
Brain : a journal of neurology , 2002 Nov: 2507-22
Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.
Nature genetics , 2002 Nov: 359-69
Primary microcephaly: new approaches for an old disorder.
American journal of medical genetics , 2002 Nov 1: 315-7
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
American journal of human genetics , 2002 Nov: 1033-43
A locus for bilateral perisylvian polymicrogyria maps to Xq28.
American journal of human genetics , 2002 Apr: 1003-8
Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).
Human mutation , 2002 Jan: 4-15

Research Funding

Grant TitleGrantorAmountAward Date
Genomic imbalances in autismAutism Speaks $99,000.00Oct. 1, 2008
De novo copy number variation and gene discovery in … brain malformationsNIH $3,398,407.00March 1, 2008
J.P. Kennedy Mental Retardation and Developmental Disabilities CenterNIHSept. 15, 2006
The genetic basis of mid-hindbrain malformationsNIHSept. 15, 2005
Molecular characterization of Joubert syndromeNIHApril 1, 2004
Human epilepsy genetics neuronal migration disordersNIHJuly 1, 2002

Primary Office

Seattle Children's Research Institute
JMB -10 - Integrative Brain Research
1900 - 9th Ave
Seattle, WA 98101
206-844-1307

Additional Offices

Seattle Children's
OC.9.850 - Medical Genetics
4800 Sand Point Way NE
Seattle, WA 98105
206-987-2056

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