Deborah Ritter

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

Erin Rooney Riggs, Erica Andersen, Athena M. Cherry et al. · Genetics in Medicine · 2019 · 1.7K citations · Full text

Clinical Genome Resource, Genetic Testing, Technical Standards +13

Pathogenic Germline Variants in 10,389 Adult Cancers

Kuan‐lin Huang, R. Jay Mashl, Yige Wu et al. · Cell · 2018 · 846 citations · Full text

A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia

Sohela Shah, Kasmintan A. Schrader, Esmé Waanders et al. · Nature Genetics · 2013 · 320 citations · Full text

Hematological Malignancy, Lymphoid Neoplasia, Mixed-phenotype Acute Leukemia +7

Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC)

Peter Horak, Malachi Griffith, Arpad Danos et al. · Genetics in Medicine · 2022 · 211 citations · Full text

Oncology, Cancer Consortium, Somatic Variant +11

Viral oncoprotein antibodies as a marker for recurrence of Merkel cell carcinoma: A prospective validation study

Kelly G. Paulson, Christopher W. Lewis, Mary W. Redman et al. · Cancer · 2016 · 175 citations · Full text