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Dobyns, William
One or more keywords matched the following items that are connected to Dobyns, William
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Concept Exome
Academic Article Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.
Academic Article AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).
Academic Article Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles.
Academic Article Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation.
Academic Article De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
Academic Article Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
Academic Article Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.
Academic Article De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.
Academic Article Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.
Academic Article Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.
Academic Article A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.
Academic Article Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
Academic Article Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
Academic Article Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.
Academic Article De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.
Academic Article Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.
Academic Article MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Academic Article Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Academic Article Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist.
Grant ACC: Callosal Agenesis as a Window into Common Neurodevelopmental Disorders
Grant Megalencephaly and segmental brain overgrowth in humans
Grant The genetic basis of Dandy-Walker and other mid-hindbrain malformations
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