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Deborah Ritter | Researchclopedia

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Deborah Ritter

105

Works

5,001

Citations

25

h-index

37

i10-index

Research Topics

Genomics and Rare Diseases Cancer Genomics and Diagnostics Genetic factors in colorectal cancer

Affiliations

Boston College2008–2012

Twitter (United States)2020–2020

Harvard University2008–2008

Lynn University2020–2020

Baylor University2024–2024

Top Works

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,et al.

20191,704 citations

BRCA gene mutations in cancer

Genomic variations and chromosomal abnormalities

Pathogenic Germline Variants in 10,389 Adult Cancers

Kuan‐lin Huang,R. Jay Mashl,et al.

2018868 citations

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

Sohela Shah,Kasmintan A. Schrader,et al.

2013324 citations

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,et al.

2022218 citations

Assessing structural variation in a personal genome—towards a human reference diploid genome

Adam C. English,William Salerno,et al.

2015178 citations

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

Kelly G. Paulson,Christopher W. Lewis,et al.

2016177 citations

A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer

Alex H. Wagner,Brian Walsh,et al.

2020174 citations

The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics

Alice B. Popejoy,Deborah Ritter,et al.

2018171 citations

Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease

Saskia N. van der Crabben,Marije P. Hennus,et al.

2016110 citations