William G. Wilson

机构：Lyell McEwin Hospital, University of Virginia · ORCID：0000-0002-2724-4094

发表论文 262 篇 · 总被引 10333 次 · h-index 50

代表论文

• Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature (2021 · The American Journal of Human Genetics · 被引 76)
• Highlighting the Dystonic Phenotype Related to GNAO1 (2022 · Movement Disorders · 被引 61)
• MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis (2019 · Brain · 被引 54)
• The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction (2020 · Genetics in Medicine · 被引 48)
• Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome (2019 · Journal of Medical Genetics · 被引 40)
• Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects (2022 · Brain · 被引 39)