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Dobyns, William

One or more keywords matched the following items that are connected to Dobyns, William

Item Type	Name
Concept	Genetic Carrier Screening
Concept	Heterozygote
Academic Article	Phenotypic spectrum associated with CASK loss-of-function mutations.
Academic Article	Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3.
Academic Article	Familial pericentric and paracentric inversions of chromosome 1.
Academic Article	Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.
Academic Article	The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.
Academic Article	Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.
Academic Article	Variable phenotype of rapid-onset dystonia-parkinsonism.
Academic Article	Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia.
Academic Article	FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.
Academic Article	Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts.
Academic Article	Copy number and sequence variants implicate APBA2 as an autism candidate gene.
Academic Article	Cerebrospinal fluid homovanillic acid levels in rapid-onset dystonia-parkinsonism.
Academic Article	Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation.
Academic Article	Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.
Academic Article	Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
Academic Article	GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Academic Article	Human mutations in integrator complex subunits link transcriptome integrity to brain development.
Academic Article	Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function.
Academic Article	De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.
Academic Article	Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1.
Academic Article	Primary brain calcification: an international study reporting novel variants and associated phenotypes.
Academic Article	Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.
Academic Article	NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain.
Academic Article	De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.

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Heterozygote