Leora Witkowski

Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type

Leora Witkowski, Jian Carrot‐Zhang, Steffen Albrecht et al. · Nature Genetics · 2014 · 500 citations

Medicine, Genetics, Oncology +14

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes

Jodie Ingles, Jennifer Goldstein, Courtney Thaxton et al. · Circulation Genomic and Precision Medicine · 2019 · 450 citations · Full text

Life Sciences, Cardiology, Genetics +13

SMARCA4-mutated atypical teratoid/rhabdoid tumors are associated with inherited germline alterations and poor prognosis

Martin Hasselblatt, Inga Nagel, Florian Oyen et al. · Acta Neuropathologica · 2014 · 196 citations · Full text

Life Sciences, Genetics, Oncology +16

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline <i>CDH1</i> sequence variants

Kristy Lee, Kate Krempely, Maegan E. Roberts et al. · Human Mutation · 2018 · 173 citations

Life Sciences, Genetics, Molecular Genetics +17

Specifications of the ACMG/AMP variant interpretation guidelines for germline <i>TP53</i> variants

Cristina Fortuño, Kristy Lee, Magali Olivier et al. · Human Mutation · 2020 · 165 citations · Full text

Life Sciences, Genetics, Oncology +17