WILLIAM CRAIGEN to Intellectual Disability
This is a "connection" page, showing publications WILLIAM CRAIGEN has written about Intellectual Disability.
Connection Strength
0.818
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De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities. Am J Med Genet A. 2024 01; 194(1):17-30.
Score: 0.127
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PAK1 c.1409?T?>?a (p. Leu470Gln) de novo variant affects the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalus: Case report and review of the literature. Am J Med Genet A. 2023 06; 191(6):1619-1625.
Score: 0.123
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Mutations of the histone linker H1-4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4. Hum Mol Genet. 2022 05 04; 31(9):1430-1442.
Score: 0.116
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DNA methylation episignature in Gabriele-de Vries?syndrome. Genet Med. 2022 04; 24(4):905-914.
Score: 0.113
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A novel de novo intronic variant in ITPR1 causes Gillespie syndrome. Am J Med Genet A. 2021 08; 185(8):2315-2324.
Score: 0.108
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YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction. Am J Hum Genet. 2017 Jun 01; 100(6):907-925.
Score: 0.082
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Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. Mol Genet Metab. 2013 Jul; 109(3):260-8.
Score: 0.062
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De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. Am J Hum Genet. 2020 08 06; 107(2):352-363.
Score: 0.026
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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2017 Feb 02; 100(2):352-363.
Score: 0.020
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Novel cardiovascular findings in association with a POMT2 mutation: three siblings with a-dystroglycanopathy. Eur J Hum Genet. 2014 Apr; 22(4):486-91.
Score: 0.016
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Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148. Hum Mol Genet. 2012 Aug 01; 21(15):3345-55.
Score: 0.014
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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet. 2010 May; 47(5):332-41.
Score: 0.012