William Dobyns to Alleles
This is a "connection" page, showing publications William Dobyns has written about Alleles.
Connection Strength
0.375
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Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay. Am J Hum Genet. 2019 10 03; 105(4):844-853.
Score: 0.138
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Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder. Am J Hum Genet. 2022 11 03; 109(11):2068-2079.
Score: 0.043
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Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. Eur J Med Genet. 2020 Jan; 63(1):103624.
Score: 0.033
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Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nat Genet. 2017 Mar; 49(3):457-464.
Score: 0.029
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Cobblestone lissencephaly with normal eyes and muscle. Neuropediatrics. 1996 Apr; 27(2):70-5.
Score: 0.027
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Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes. Hum Mol Genet. 2015 Sep 15; 24(18):5313-25.
Score: 0.026
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Copy number and sequence variants implicate APBA2 as an autism candidate gene. Autism Res. 2009 Dec; 2(6):359-64.
Score: 0.017
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Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biol Psychiatry. 2008 Jun 15; 63(12):1111-7.
Score: 0.016
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Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families. Mol Diagn. 2004; 8(3):151-5.
Score: 0.012
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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: 0.011
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Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. Ann Neurol. 1997 Dec; 42(6):933-50.
Score: 0.008
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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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Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere. Am J Hum Genet. 1992 Oct; 51(4):709-20.
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: 0.005