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Sarah Edkins

Researcher at Wellcome Trust Sanger Institute

Publications -  107
Citations -  47463

Sarah Edkins is an academic researcher from Wellcome Trust Sanger Institute. The author has contributed to research in topics: Genome-wide association study & Mutation. The author has an hindex of 69, co-authored 105 publications receiving 44044 citations. Previous affiliations of Sarah Edkins include Max Planck Society.

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Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.

Michael Field, +12 more
- 01 Dec 2006 - 
TL;DR: Three families with X‐linked mental retardation are described, two with a deletion of a single amino acid and one with a missense mutation in the proximal domain of the RSK2(RPS6KA3) (ribosomal protein S6 kinase, 90 kDa, polypeptide 3) protein similar to mutations found in Coffin–Lowry syndrome.
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Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus

A. Strange, +55 more
- 15 Nov 2013 - 
TL;DR: In this paper, a novel association between intraocular pressure and a common variant at 7p21 near to GLCCI1 and ICA1 was found, and the findings in this region were confirmed through two UK replication cohorts totalling 4866 individuals (rs59072263, Pcombined = 1.10 × 10−8).

A Genome-wide Association Analysis of a Broad Psychosis Phenotype Identifies Three Loci for Further Investigation

Elvira Bramon, +81 more
TL;DR: This paper performed a GWAS of schizophrenia as a broad syndrome rather than within specific diagnostic categories and found that SNPs conveying risk for schizophrenia are also predictive of disease status in their data.
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Familial craniofacial fibrous dysplasia: absence of linkage to GNAS1 and the gene for cherubism.

Jonathan Mangion, +4 more
- 01 Nov 2000 - 
TL;DR: Fibrous dysplasia usually occurs with no family history, although CFD has been shown to be inherited in an autosomal dominant fashion.
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Supplementary Material 1

Joshua C. Randall, +263 more
- 01 Jan 2013 - 
TL;DR: The member databases themselves produce regular releases, and for TIGRFAMs the number of models has increased from 1109 in release 1.0 to 1415 in release 2.0 (beginning of 2002).