William Dobyns to Molecular Sequence Data
This is a "connection" page, showing publications William Dobyns has written about Molecular Sequence Data.
Connection Strength
0.531
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De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy. Am J Hum Genet. 2014 Apr 03; 94(4):634-41.
Score: 0.086
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Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. Hum Mutat. 2016 Feb; 37(2):148-54.
Score: 0.024
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De novo mutations in SIK1 cause a spectrum of developmental epilepsies. Am J Hum Genet. 2015 Apr 02; 96(4):682-90.
Score: 0.023
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Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. Hum Genet. 2014 Aug; 133(8):1023-39.
Score: 0.022
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De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Nat Genet. 2014 May; 46(5):510-515.
Score: 0.022
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AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). Eur J Hum Genet. 2014 Mar; 22(3):363-8.
Score: 0.020
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PRKDC mutations in a SCID patient with profound neurological abnormalities. J Clin Invest. 2013 Jul; 123(7):2969-80.
Score: 0.020
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Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. Brain. 2013 Feb; 136(Pt 2):536-48.
Score: 0.020
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De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet. 2012 Feb 26; 44(4):440-4, S1-2.
Score: 0.019
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Phenotypic spectrum associated with CASK loss-of-function mutations. J Med Genet. 2011 Nov; 48(11):741-51.
Score: 0.018
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Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene. Am J Med Genet A. 2011 Aug; 155A(8):1865-76.
Score: 0.018
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Loss-of-function mutations in RAB18 cause Warburg micro syndrome. Am J Hum Genet. 2011 Apr 08; 88(4):499-507.
Score: 0.018
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The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet. 2011 Jun; 48(6):396-406.
Score: 0.017
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Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX. Am J Med Genet A. 2011 Apr; 155A(4):892-7.
Score: 0.017
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Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. Nat Genet. 2010 Nov; 42(11):1015-20.
Score: 0.017
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Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. Am J Hum Genet. 2010 Sep 10; 87(3):354-64.
Score: 0.017
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Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. Am J Hum Genet. 2008 Aug; 83(2):170-9.
Score: 0.015
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Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nat Genet. 2005 Mar; 37(3):221-3.
Score: 0.011
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Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation. Nat Genet. 2004 Oct; 36(10):1053-5.
Score: 0.011
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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. Am J Hum Genet. 2003 Apr; 72(4):918-30.
Score: 0.010
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Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat Genet. 2002 Nov; 32(3):359-69.
Score: 0.010
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Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet. 2002 Nov; 71(5):1033-43.
Score: 0.010
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The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene. Hum Mol Genet. 2000 Dec 12; 9(20):3019-28.
Score: 0.009
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LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. Hum Mol Genet. 1998 Dec; 7(13):2029-37.
Score: 0.007
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Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects. Hum Mol Genet. 1998 Aug; 7(8):1327-32.
Score: 0.007
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Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell. 1998 Jan 09; 92(1):63-72.
Score: 0.007
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A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. Hum Mol Genet. 1997 Feb; 6(2):147-55.
Score: 0.007
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Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. Hum Mol Genet. 1997 Feb; 6(2):157-64.
Score: 0.007
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Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet. 1997 Jan; 15(1):62-9.
Score: 0.007
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Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16. Hum Mutat. 1997; 9(1):23-9.
Score: 0.007
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Mutation of the gene in a family with optic nerve colobomas, renal anomolies and vesicoureteral reflux. Nat Genet. 1996 May; 13(1):129.
Score: 0.006
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Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nat Genet. 1995 Apr; 9(4):358-64.
Score: 0.006
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Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature. 1993 Aug 19; 364(6439):717-21.
Score: 0.005
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Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly. Am J Hum Genet. 1992 Jan; 50(1):182-9.
Score: 0.005
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Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). Am J Hum Genet. 1991 Dec; 49(6):1207-18.
Score: 0.005
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Rapid diagnosis of Miller-Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction. Hum Genet. 1990 Oct; 85(5):555-9.
Score: 0.004