Elise Valkanas

A structural variation reference for medical and population genetics

Ryan L. Collins, Harrison Brand, Konrad J. Karczewski et al. · Nature · 2020 · 1.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency

William P. Bone, Nicole Washington, Orion J. Buske et al. · Genetics in Medicine · 2015 · 112 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Ana Töpf, Katherine Johnson, Adam Bates et al. · Genetics in Medicine · 2020 · 108 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States

Hemakumar M. Reddy, Kyung‐Ah Cho, Monkol Lek et al. · Journal of Human Genetics · 2016 · 93 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

Shannon Marchegiani, Taylor Davis, Federico Tessadori et al. · The American Journal of Human Genetics · 2015 · 76 citations · Full text

Life Sciences, Genetics, Molecular Genetics +4