Rachel Soemedi

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

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 · 335 citations · Full text

Pathogenic variants that alter protein code often disrupt splicing

Rachel Soemedi, Kamil J. Cygan, Christy L. Rhine et al. · Nature Genetics · 2017 · 252 citations

Genetics, Pathogenesis, Protein Code +5

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

Ozge Ceyhan‐Birsoy, Pankaj B. Agrawal, Carlos Hidalgo et al. · Neurology · 2013 · 213 citations · Full text

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

Rachel Soemedi, Ana Töpf, Ian Wilson et al. · Human Molecular Genetics · 2011 · 162 citations · Full text