Search filters

List of works by Gregory M Cooper

A general framework for estimating the relative pathogenicity of human genetic variants

scientific article (publication date: March 2014)

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

scientific article published on 01 June 2020

A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity.

scientific article

Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies

scientific article published on 01 December 2018

Aberrant regulation of a poison exon caused by a non-coding variant in a mouse model of Scn1a-associated epileptic encephalopathy

scientific article published on 07 January 2021

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

scientific article published on 31 January 2020

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

scientific article published on 30 November 2018

Evaluating the strength of genetic results: Risks and responsibilities

scientific article published on 11 October 2019

Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfalls

scientific article published on 29 September 2020

Systematic reanalysis of genomic data improves quality of variant interpretation.

scientific article published on 13 April 2018

Paulina is supported by:

About Paulina

Help