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WILLIAM DOBYNS, M.D.
M.D.
NPI: 1538282736Individual
Specialties, Licenses & Credentials
Pediatrics Physician
Pediatrics
Code: 208000000X
036-099156(IL)
Clinical Genetics (M.D.) PhysicianPrimary
Medical Genetics — Clinical Genetics (M.D.)
Code: 207SG0201X
MD60152986(WA)
Neurology with Special Qualifications in Child Neurology Physician
Psychiatry & Neurology — Neurology with Special Qualifications in Child Neurology
Code: 2084N0402X
MD60152986(WA)
Research & Publications (20)
Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
PMID 18536050·Am J Med Genet A·2008
8-other
The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked.
PMID 16720459·Acta Paediatr Suppl·2006
7-preclinical
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
PMID 14722918·Hum Mutat·2004
4-observational
Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene.
PMID 15254951·Mov Disord·2004
8-other
Inheritance of most X-linked traits is not dominant or recessive, just X-linked.
PMID 15316978·Am J Med Genet A·2004
4-observational
A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism.
PMID 19546099·J Med Genet·2010
5-case
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
PMID 19574260·J Med Genet·2010
5-case
A novel SIX3 mutation segregates with holoprosencephaly in a large family.
PMID 19353631·Am J Med Genet A·2009
8-other
FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.
PMID 19668217·Nat Genet·2009
8-other
Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes.
PMID 19353582·Am J Med Genet A·2009
5-case
Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.
PMID 19161147·Am J Med Genet A·2009
8-other
Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia.
PMID 19050731·Eur J Hum Genet·2009
8-other
Association and mutation analyses of 16p11.2 autism candidate genes.
PMID 19242545·PLoS One·2009
7-preclinical
Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.
PMID 19439424·Brain·2009
7-preclinical
The molecular landscape of ASPM mutations in primary microcephaly.
PMID 19028728·J Med Genet·2009
8-other
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.
PMID 19346217·J Med Genet·2009
8-other
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
PMID 19165920·Nat Genet·2008
8-other
Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype.
PMID 19012351·Am J Med Genet A·2008
5-case
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
PMID 18752264·Hum Mutat·2008
8-other
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 5841 S MARYLAND AVE, MC 0077
CHICAGO, IL 60637 - Phone
- (773) 834-0525
Quick Facts
- NPI
- 1538282736
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 3
- Locations
- 1
- Publications
- 20
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