Author details

Full Name

Deborah I Ritter

Affiliation

Baylor College of Medicine

ORCID

Career Start Year

1996

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36373660	CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase.	Nucleic Acids Res	2023
38084291	Specifications of the ACMG/AMP Variant Classification Guidelines for Germline <i>DICER1</i> Variant Curation.	Hum Mutat	2023
37261438	Response to Spurdle etÂ al.	Genet Med	2023
36617168	Developing a disease-specific annotation protocol for VHL gene curation using Hypothes.is.	Database (Oxford)	2023
35306447	Evolution of germline TP53 variant classification in children with cancer.	Cancer Genet	2022
35366592	Standardized evidence-based approach for assessment of oncogenic and clinical significance of NTRK fusions.	Cancer Genet	2022
35624339	A community approach to the cancer-variant-interpretation bottleneck.	Nat Cancer	2022
36063163	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).	Genet Med	2022
35101336	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).	Genet Med	2022
33731880	Correction: 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).	Genet Med	2021
32246132	A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer.	Nat Genet	2020
31754268	Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties.	Genet Med	2020
31690835	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).	Genet Med	2020
30504931	Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels.	Genet Med	2019
31645350	A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen).	Cold Spring Harb Mol Case Stud	2019
31779674	Standard operating procedure for curation and clinical interpretation of variants in cancer.	Genome Med	2019
30523343	Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework.	Genet Med	2019
29218886	ClinGen Cancer Somatic Working Group - standardizing and democratizing access to cancer molecular diagnostic data to drive translational research.	Pac Symp Biocomput	2018
29888062	Standardizing And Democratizing Access To Cancer Molecular Diagnostic Test Data From Patients To Drive Translational Research.	AMIA Jt Summits Transl Sci Proc	2018
30311373	The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics.	Hum Mutat	2018
30311370	Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community-driven standards.	Hum Mutat	2018
30311369	Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes.	Hum Mutat	2018
29625052	Pathogenic Germline Variants in 10,389 Adult Cancers.	Cell	2018
27925665	Viral oncoprotein antibodies as a marker for recurrence of Merkel cell carcinoma: A prospective validation study.	Cancer	2017
26906009	Pharmacogenetic characterization of naturally occurring germline NT5C1A variants to chemotherapeutic nucleoside analogs.	Pharmacogenet Genomics	2016
27814769	Somatic cancer variant curation and harmonization through consensus minimum variant level data.	Genome Med	2016
27427983	Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease.	J Clin Invest	2016
27330550	SV-STAT accurately detects structural variation via alignment to reference-based assemblies.	Source Code Biol Med	2016
25569436	Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing.	Genet Med	2015
25886820	Assessing structural variation in a personal genome-towards a human reference diploid genome.	BMC Genomics	2015
24013638	A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia.	Nat Genet	2013
22567096	Transcriptional enhancers in protein-coding exons of vertebrate developmental genes.	PLoS One	2012
19850031	A systematic approach to identify functional motifs within vertebrate developmental enhancers.	Dev Biol	2010
20494938	The importance of being cis: evolution of orthologous fish and mammalian enhancer activity.	Mol Biol Evol	2010
18718943	cneViewer: a database of conserved non-coding elements for studies of tissue-specific gene regulation.	Bioinformatics	2008
8818899	Differentiation of Mycobacterium genavense and Mycobacterium simiae by automated mycolic acid analysis with high-performance liquid chromatography.	J Clin Microbiol	1996

1 - 36 of 36

Ben Weisburd

Broad Institute of MIT and Harvard

Career Start Year 2012

Number of shared co-authors 3

Scott Topper

Invitae Corporation

Career Start Year 2011

Number of shared co-authors 4

Sebastian M Waszak

University of California san francisco

Career Start Year 2010

Number of shared co-authors 9

Emilie Lalonde

University of Pennsylvania

Career Start Year 2010

Number of shared co-authors 6

Sabah Kadri

Abbvie Inc., Genomics Research Center

Career Start Year 2009

Number of shared co-authors 2

Matthew S Lebo

Harvard Medical School, Brigham and Women's Hospital

Career Start Year 2009

Number of shared co-authors 20

Sigve Nakken

University of Oslo

Career Start Year 2007

Number of shared co-authors 3

Mark J Cowley

Children's Cancer Institute, Lowy Cancer Research Centre

Career Start Year 2006

Number of shared co-authors 9

Jamie K Teer

H. Lee Moffitt Cancer Center and Research Institute

Career Start Year 2005

Number of shared co-authors 7

Daniel C Koboldt

Institute for Genomic Medicine, Nationwide Children's Hospital

Career Start Year 2005

Number of shared co-authors 40

Chip Stewart

Broad Institute of MIT and Harvard

Career Start Year 2004

Number of shared co-authors 25

Matthias Schlesner

University of Augsburg

Career Start Year 2004

Number of shared co-authors 10

Matthew D Wilkerson

Uniformed Services University of the Health Sciences

Career Start Year 2004

Number of shared co-authors 17

James M Eldred

McDonnell Genome Institute, Washington University School of Medicine

Career Start Year 2003

Number of shared co-authors 36

David E Larson

McDonnell Genome Institute, Washington University School of Medicine

Career Start Year 2003

Number of shared co-authors 44

Trevor J Pugh

Princess Margaret Cancer Centre, University Health Network

Career Start Year 2003

Number of shared co-authors 23

Olivier Harismendy

University of California

Career Start Year 2003

Number of shared co-authors 1

Anne O'Donnell-Luria

Broad Institute of MIT and Harvard

Career Start Year 2002

Number of shared co-authors 5

Jon Teague

Wellcome Sanger Institute

Career Start Year 2002

Number of shared co-authors 9

Stacey Gabriel

Broad Institute of MIT and Harvard

Career Start Year 2001

Number of shared co-authors 41

Nancy F Hansen

National Human Genome Research Institute, National Institutes of Health

Career Start Year 2000

Number of shared co-authors 15

Michael N Edmonson

St. Jude Children's Research Hospital

Career Start Year 1999

Number of shared co-authors 18

Quang M Trinh

Ontario Institute for Cancer Research

Career Start Year 1999

Number of shared co-authors 8

Michael O Dorschner

University of Washington

Career Start Year 1997

Number of shared co-authors 18

Adam Butler

Wellcome Sanger Institute

Career Start Year 1996

Number of shared co-authors 10

Heidi L Rehm

The Broad Institute of MIT and Harvard

Career Start Year 1996

Number of shared co-authors 56

Jenny C Taylor

University of Oxford

Career Start Year 1996

Number of shared co-authors 4

John V Pearson

QIMR Berghofer Medical Research Institute

Career Start Year 1996

Number of shared co-authors 18

Robert S Fulton

McDonnell Genome Institute, Washington University School of Medicine

Career Start Year 1994

Number of shared co-authors 51

Jean-Pierre A Kocher

Mayo Clinic

Career Start Year 1991

Number of shared co-authors 2

row(s) 1 - 30 of 30

Sharon E Plon

Baylor College of Medicine

Co-authored papers 15

Subha Madhavan

Innovation Center for Biomedical Informatics, Georgetown University Medical Center

Co-authored papers 12

Shruti Rao

Innovation Center for Biomedical Informatics, Georgetown University Medical Center

Co-authored papers 11

Gordana Raca

Children's Hospital Los Angeles

Co-authored papers 11

Obi L Griffith

Washington University

Co-authored papers 10

Malachi Griffith

Washington University

Co-authored papers 10

Shashikant Kulkarni

Centene Center for Health Transformation, Centene Corporation

Co-authored papers 9

Dmitriy Sonkin

National Cancer Institute

Co-authored papers 9

Arpad M Danos

McDonnell Genome Institute, Washington University in St Louis School of Medicine

Co-authored papers 7

David A Wheeler

Baylor College of Medicine

Co-authored papers 7

Alex H Wagner

Iowa State University, Mayo Clinic, Nationwide Children's Hospital, The Ohio State University College of Medicine, University of Iowa, Washington University in Saint Louis

Co-authored papers 7

Kilannin Krysiak

Washington University School of Medicine

Co-authored papers 7

Damian T Rieke

German Cancer Consortium and German Cancer Research Center

Co-authored papers 5

Angshumoy Roy

Texas Children's Hospital and Baylor College of Medicine

Co-authored papers 5

Joshua F McMichael

Washington University