about
A general framework for estimating the relative pathogenicity of human genetic variantsA systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity.Systematic reanalysis of genomic data improves quality of variant interpretation.De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delayDe novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literatureEvaluating the strength of genetic results: Risks and responsibilitiesA second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
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Q29615730-654D27B3-78C3-4CE5-8235-10DBEBA32DFAQ37548504-E2913C13-2A47-4DEC-AB07-4DE71F8951C0Q52590322-9E50441D-4563-4E15-B721-3D7775714168Q60310175-AF3A6A99-9CB0-4DF1-803C-586DCA0A0516Q89475458-8F715B5A-3A01-42B3-88A0-7E54F8805823Q90655737-EB8EDA41-9891-40DB-B22E-97E7DD9BEF00Q96127542-62194B5C-0A03-44E9-8F3B-6B9758A42CDE
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description
investigador
@es
researcher
@en
wetenschapper
@nl
name
Gregory M Cooper
@en
Gregory M Cooper
@nl
type
label
Gregory M Cooper
@en
Gregory M Cooper
@nl
prefLabel
Gregory M Cooper
@en
Gregory M Cooper
@nl
P31
P496
0000-0001-5509-9923