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Expanding and automating the calibration of computational tools for clinical variant classification

General
Research

Session:
#2023

Date:
Thursday, Oct 16, 2025 2:30pm – 2:30pm

Conference:
ASHG 2025

Authors:
Vikas Pejaver, Himanshu Sharma, Timothy Bergquist, Sarah L. Stenton, Emily A. W. Nadeau, Alicia B. Byrne, Marc S Greenblatt, Steven M. Harrison, Sean V. Tavtigian, Anne O’Donnell-Luria, Leslie G. Biesecker, Predrag Radivojac, Steven E. Brenner

Collaborators:

Boston Children's Hospital
Broad Institute of MIT and Harvard
Icahn School of Medicine at Mount Sinai
National Institutes of Health
Northeastern University
University of California, Berkeley
University of Utah
University of Vermont Cancer Center

Abstract
An update on APC p.I1307K homozygosity: Observations from 74 individuals from a large multigene panel testing cohort

Oncology

Session:
#9017

Date:
Thursday, Oct 16, 2025 2:30pm – 4:30pm

Conference:
ASHG 2025

Authors:
Marcy E. Richardson, Carrie Horton, Taylor D. Coleman, Magan Trottier, Linda Polfus, Leah Zaretsky, Aimee Lucas

Collaborators:

Icahn School of Medicine at Mount Sinai

Abstract Poster
An update on APC p.I1307K homozygosity: Observations from 74 individuals from a large multigene panel testing cohort

Oncology

Date:
Thursday, Oct 9, 2025 6:00pm – 7:00pm

Conference:
CGA-IGC 2025

Authors:
Marcy E. Richardson, Carrie Horton, Taylor D. Coleman, Magan Trottier, Linda Polfus, Leah Zaretsky, Maggie Feng, Aimee Lucas

Collaborators:

Icahn School of Medicine at Mount Sinai
WCG Clinical Inc.

Abstract
Effect of genetic testing results on patient reported quality of life among patients undergoing panel testing for newly diagnosed ovarian cancer

General
Oncology

Session:
#76

Date:
Friday, May 29, 2020 12:00am – 12:00pm

Conference:
ASCO 2020

Authors:
Emily Dalton, Sarah S. Lee, Melissa K. Frey, Deanna Gerber, Zachary Schwartz, Jessica Martineau, Kathleen Lutz, Erin Reese, Anne Olsen, Julia Girdler, Bhavana Pothuri, Leslie Boyd, John P. Curtin, Douglas Levine, Stephanie V. Blank

Collaborators:

Cedar Sinai Medical Center
Icahn School of Medicine at Mount Sinai
NYU School of Medicine
Weill Cornell

Poster Abstract
Microcephaly and Tracheoesophageal Fistula in a newborn with PNKP mutation

Clinical Genomics

Session:
#399

Date:
Thursday, Apr 12, 2018 10:00am – 11:30am

Conference:
ACMG 2018

Authors:
Sha Tang, Margo Sheck, Samin Sajan, Lakshmi Mehta

Collaborators:

Icahn School of Medicine at Mount Sinai

Abstract

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Expanding and automating the calibration of computational tools for clinical variant classification

An update on APC p.I1307K homozygosity: Observations from 74 individuals from a large multigene panel testing cohort

An update on APC p.I1307K homozygosity: Observations from 74 individuals from a large multigene panel testing cohort

Effect of genetic testing results on patient reported quality of life among patients undergoing panel testing for newly diagnosed ovarian cancer

Microcephaly and Tracheoesophageal Fistula in a newborn with PNKP mutation

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Scientific Posters

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Expanding and automating the calibration of computational tools for clinical variant classification

An update on APC p.I1307K homozygosity: Observations from 74 individuals from a large multigene panel testing cohort

An update on APC p.I1307K homozygosity: Observations from 74 individuals from a large multigene panel testing cohort

Effect of genetic testing results on patient reported quality of life among patients undergoing panel testing for newly diagnosed ovarian cancer

Microcephaly and Tracheoesophageal Fistula in a newborn with PNKP mutation

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