Concepedia

Rachel Soemedi

RS

Statistics

Publications

12

Citations

1.9K

H-Index

11

Active since

2009

Affiliations

Newcastle University(Current)

Brown University

University of Nottingham

Commissariat à l'Énergie Atomique et aux Énergies Alternatives

University of Oxford

Rachel Soemedi is an author at Newcastle University specializing in molecular genetics, genetics, and medical genetics.

Publications per year

2009–2024

12

Publications

12

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Catherine A. Brownstein, Alan H. Beggs, Nils Homer et al. · Genome biology · 2014 · 432 citations · Full text

, , +17

Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease

Rachel Soemedi, Ian Wilson, Jamie Bentham et al. · The American Journal of Human Genetics · 2012 · 338 citations · Full text

, , +17

Pathogenic variants that alter protein code often disrupt splicing

Rachel Soemedi, Kamil J. Cygan, Christy L. Rhine et al. · Nature Genetics · 2017 · 270 citations

, , +12

Recessive truncating titin gene, <i>TTN</i> , mutations presenting as centronuclear myopathy

Ozge Ceyhan‐Birsoy, Pankaj B. Agrawal, Carlos Hidalgo et al. · Neurology · 2013 · 217 citations · Full text

, , +17

Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16

Heather J. Cordell, Jamie Bentham, Ana Töpf et al. · Nature Genetics · 2013 · 165 citations

, , +13

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