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Author Details

Edward D Esplin
Invitae Corporation
1998
84
20
PMIDPaper TitleJournal TitlePublished Year
37814187Universal Germline-Genetic Testing for Breast Cancer: Implementation in a Rural Practice and Impact on Shared Decision-Making.Ann Surg Oncol2024
37756683Cascade testing for hereditary cancer: comprehensive multigene panels identify unexpected actionable findings in relatives.J Natl Cancer Inst2024
37814187Universal Germline-Genetic Testing for Breast Cancer: Implementation in a Rural Practice and Impact on Shared Decision-Making.Ann Surg Oncol2024
38088168Real-World Genetic Testing Utilization Among Patients With Cardiomyopathy.Circ Genom Precis Med2024
38071479Early genetic testing in pediatric epilepsy: Diagnostic and cost implications.Epilepsia Open2024
38088168Real-World Genetic Testing Utilization Among Patients With Cardiomyopathy.Circ Genom Precis Med2024
37756683Cascade testing for hereditary cancer: comprehensive multigene panels identify unexpected actionable findings in relatives.J Natl Cancer Inst2024
38071479Early genetic testing in pediatric epilepsy: Diagnostic and cost implications.Epilepsia Open2024
36537080Prevalence and clinical implications of germline mutations among Jordanian patients with ovarian cancer. The Jordanian exploratory cancer genetics (Jo-ECAG) ovarian study.Mol Genet Genomic Med2023
37992258Rate of Pathogenic Germline Variants in Patients With Lung Cancer.JCO Precis Oncol2023
37806842Clinical and Functional Analyses of an African-ancestry Gain-of-function HOXB13 Variant Implicated in Aggressive Prostate Cancer.Eur Urol Oncol2023
37574391Efficacy of National Comprehensive Cancer Network Guidelines in Identifying Pathogenic Germline Variants Among Unselected Patients with Prostate Cancer: The PROCLAIM Trial.Eur Urol Oncol2023
37156429Racial disparities in cascade testing for cancer predisposition genes.Prev Med2023
37031408Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).Genet Med2023
37468586Organization of the human intestine at single-cell resolution.Nature2023
37468557Segmentation of human functional tissue units in support of a Human Reference Atlas.Commun Biol2023
36773955Fumarate Hydratase Variants and Their Association With Paraganglioma/Pheochromocytoma.Urology2023
37276540Germline Genetic Testing After Cancer Diagnosis.JAMA2023
37132629Germline Genetic Testing in Unselected Squamous and Non-Squamous Head and Neck Cancers.Laryngoscope2023
37255402FH Variant Pathogenicity Promotes Purine Salvage Pathway Dependence in Kidney Cancer.Cancer Discov2023
36621880Returning integrated genomic risk and clinical recommendations: The eMERGE study.Genet Med2023
37181954Universal Genetic Testing vs. Guideline-Directed Testing for Hereditary Cancer Syndromes Among Traditionally Underrepresented Patients in a Community Oncology Program.Cureus2023
36537080Prevalence and clinical implications of germline mutations among Jordanian patients with ovarian cancer. The Jordanian exploratory cancer genetics (Jo-ECAG) ovarian study.Mol Genet Genomic Med2023
37535880Retrospective Cohort Study on the Limitations of Direct-to-Consumer Genetic Screening in Hereditary Breast and Ovarian Cancer.JCO Precis Oncol2023
37806842Clinical and Functional Analyses of an African-ancestry Gain-of-function HOXB13 Variant Implicated in Aggressive Prostate Cancer.Eur Urol Oncol2023
37992258Rate of Pathogenic Germline Variants in Patients With Lung Cancer.JCO Precis Oncol2023
37574391Efficacy of National Comprehensive Cancer Network Guidelines in Identifying Pathogenic Germline Variants Among Unselected Patients with Prostate Cancer: The PROCLAIM Trial.Eur Urol Oncol2023
37535880Retrospective Cohort Study on the Limitations of Direct-to-Consumer Genetic Screening in Hereditary Breast and Ovarian Cancer.JCO Precis Oncol2023
37255402FH Variant Pathogenicity Promotes Purine Salvage Pathway Dependence in Kidney Cancer.Cancer Discov2023
37156429Racial disparities in cascade testing for cancer predisposition genes.Prev Med2023
37181954Universal Genetic Testing vs. Guideline-Directed Testing for Hereditary Cancer Syndromes Among Traditionally Underrepresented Patients in a Community Oncology Program.Cureus2023
37276540Germline Genetic Testing After Cancer Diagnosis.JAMA2023
37468586Organization of the human intestine at single-cell resolution.Nature2023
37468557Segmentation of human functional tissue units in support of a Human Reference Atlas.Commun Biol2023
37132629Germline Genetic Testing in Unselected Squamous and Non-Squamous Head and Neck Cancers.Laryngoscope2023
37031408Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).Genet Med2023
36621880Returning integrated genomic risk and clinical recommendations: The eMERGE study.Genet Med2023
36773955Fumarate Hydratase Variants and Their Association With Paraganglioma/Pheochromocytoma.Urology2023
34622392Re-evaluating cancer risks associated with the CHEK2 p.Ser428Phe Ashkenazi Jewish founder pathogenic variant.Fam Cancer2022
36315135Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.JAMA Neurol2022
36370464Multigene Panel Testing Yields High Rates of Clinically Actionable Variants Among Patients With Colorectal Cancer.JCO Precis Oncol2022
36108258Universal Germline Genetic Testing for Hereditary Cancer Syndromes in Patients With Solid Tumor Cancer.JCO Precis Oncol2022
36094610Cancer risks associated with heterozygous ATM loss of function and missense pathogenic variants based on multigene panel analysis.Breast Cancer Res Treat2022
35947370Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.JAMA Cardiol2022
35691755Unexpected actionable genetic variants revealed by multigene panel testing of patients with uterine cancer.Gynecol Oncol2022
36279135Comparison of Germline Genetic Testing Before and After a Medical Policy Covering Universal Testing Among Patients With Colorectal Cancer.JAMA Netw Open2022
35626031Clinical Impact of Pathogenic Variants in DNA Damage Repair Genes beyond <i>BRCA1</i> and <i>BRCA2</i> in Breast and Ovarian Cancer Patients.Cancers (Basel)2022
35488122Correction: Germline alterations among Hispanic men with prostate cancer.Prostate Cancer Prostatic Dis2022
35422376What Is a Variant of Uncertain Significance in Genetic Testing?Eur Urol Focus2022
36136330Clinical Utility of Universal Germline Genetic Testing for Patients With Breast Cancer.JAMA Netw Open2022
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Collaborators

Robert L Nussbaum
Invitae Corporation
Co-authored papers 29
Sarah M Nielsen
Invitae Corporation
Co-authored papers 27
Kathryn E Hatchell
Invitae Corporation
Co-authored papers 22
Eden Haverfield
Invitae Corporation
Co-authored papers 8
Michael A Golafshar
Mayo Clinic
Co-authored papers 7
Katie L Kunze
Mayo Clinic
Co-authored papers 5
Judy E Garber
Dana-Farber Cancer Institute
Co-authored papers 4
Karen Ouyang
Invitae Corporation
Co-authored papers 4
Rebecca Truty
Invitae Corporation
Co-authored papers 4
Stephen E Lincoln
Co-authored papers 4
Alexander Keith Stewart
Co-authored papers 4
Blake R Wilde
University of California los angeles
Co-authored papers 3
Michael Snyder
Stanford University
Co-authored papers 3
Brian Shuch
University of California los angeles
Co-authored papers 3
Jonathan A Bernstein
Stanford University
Co-authored papers 3
Anne Slavotinek
Cincinnati Children's Hospital Medical Center
Co-authored papers 3
Heather R Christofk
Jonsson Comprehensive Cancer Center, University of California los angeles
Co-authored papers 3
Tara J Schmidlen
Invitae Corporation
Co-authored papers 3
Erin S O'Leary
Co-authored papers 3
Toni K Choueiri
Dana-Farber Cancer Institute
Co-authored papers 3
Aaron M Horning
Co-authored papers 3
Lisa Madlensky
Department of Medicine and Moores Cancer Center, University of California San Diego.
Co-authored papers 2
Yiing Lin
Co-authored papers 2
Amy C Sturm
Genomic Medicine Institute, USA Heart and Vascular Institute
Co-authored papers 2
Paul C Boutros
University of California los angeles
Co-authored papers 2
Eric Lu
David Geffen School of Medicine at university of california los angeles
Co-authored papers 2
Alanna Kulchak Rahm
Research Institute
Co-authored papers 2
Gail P Jarvik
University of Washington Medical Center
Co-authored papers 2
Peter J Hulick
Neaman Center for Personalized Medicine, NorthShore University HealthSystem
Co-authored papers 2
Richard R Sharp
Biomedical Ethics, Mayo Clinic and Foundation
Co-authored papers 2
Release 1.2