Research Archives - Page 3 of 5 - Ambry Genetics

Poster
Splice mutations and digital anomalies extend the genotypic and phenotypic spectrum of Kim-Gusella Syndrome in PHF21A patients

Clinical Genomics

Research

Date:
Thursday, Nov 2, 2023 3:00pm – 5:00pm

Conference:
ASHG 2023

Authors:
Meghan Towne, Afif Ben-Mahmoud, Vijay Gupta, Maria Irene Scarano, Saskia M. Maas, Marielle Alders, Isabelle Rouvet, Emilia K. Bijlsma, Lilian L Cohen, Solveig Heide, Boris Keren, Kristina Sorensen, Aia Elise Jonch, Tova Hershkovitz, Owens Josh, Seong-In Hyun, Joe Farris, Ahmad Abou Tayoun, Diego Lopergolo, Dmitriy Niyazov, Jennifer Jacober, Vanda McNiven, Fung Charlotte, Hyung-Goo Kim

Abstract Poster
Poster
Application of deep mutational scanning data for MLH1 variant interpretation

Clinical Genomics

Research

Date:
Thursday, Nov 2, 2023 3:00pm – 5:00pm

Conference:
ASHG 2023

Authors:
Felicia Hernandez, Rachid Karam, PhD, Anthony Scott, Xiaoyan Jia, Grace Clark, Sajini Jayakody, Bala Burugula, Jacob Kitzman, Ashley P.L. Marsh, Sami Belhadj, Matthew Varga

Poster Abstract
Poster
ATM and PALB2 variant curation guidelines progress update: ClinGen Hereditary Breast, Ovarian, and Pancreatic Cancer Variant Curation Expert Panel

Oncology

Research

Date:
Thursday, Mar 16, 2023 10:30am – 12:00pm

Conference:
ACMG 2023

Authors:
Megan Holdren, MS,CGC, Marcy Richardson, PhD; Colin Young, PhD; Terra Brannan,Phd; Tina Pesaran, MS, CGC

Collaborators:

Baylor College of Medicine
GeneDx
Invitae Corporation
McGill University
QIMR Berghofer Medical Research Institute
University of North Carolina at Chapel Hill
University of Utah

Abstract Poster
Poster
The ClinGen ENIGMA BRCA1/2 expert panel: A dynamic framework for evidence-based recommendations to improve classification criteria for variants in BRCA1/2

Oncology

Research

Date:
Friday, Mar 17, 2023 10:30am – 12:30pm

Conference:
ACMG 2023

Authors:
Michael Parsons, PhD, Marcy Richardson, Phd; Tina Pesaran, MS,CGC; Rachid Karam, MD, PhD

Poster Abstract
Poster
Variant reclassification in a large cardiogenetic testing cohort: The importance of disease specific variant classification criteria

Research

Date:
Thursday, Mar 16, 2023 10:30am – 12:30pm

Conference:
ACMG 2023

Authors:
Meghan Towne, MS, CGC; Melissa Holman, MS, CGC; Margo Gallegos, MS, CGC; Heather Workman, MS, CGC; Amybeth Weaver, MS, CGC; Heather Zimmermann PhD

Abstract
Poster
A plot twist: When RNA evidence challenges our expectations of DNA results

Research

Date:
Thursday, Mar 16, 2023 10:30am – 12:00pm

Conference:
ACMG 2023

Authors:
Colin Young, PhD, Carrie Horton, MS-CGC; Heather Zimmermann, PhD; Jessica Grzybowski, MS, CGC; Rachid Karam, MD, PhD

Abstract Poster
Poster
New and known biases: Ordering trends and diagnostic rates of exome-based neurology panels reveal patient sex-based skewing

Clinical Genomics

Neurology

Research

Date:
Wednesday, Nov 16, 2022 8:00am – 5:00pm

Conference:
NSGC 2022

Authors:
Meghan Towne
Poster
Towards improved equity in genetic testing: The role of high throughput functional evidence in reducing population-specific disparities in variant interpretation

Research

Date:
Wednesday, Nov 16, 2022 8:00am – 5:00pm

Conference:
NSGC 2022

Authors:
Carolyn Horton
Presentation
CTNNA1 germline variants associate with a disease spectrum extending beyond Hereditary Diffuse Gastric Cancer

Oncology

Research

Speakers:
Silvana Lobo

Conference:
CGA-IGC 2022

Friday, Nov 11, 2022 2:30pm – 4:15pm

Collaborators:

Institute of Molecular Pathology and Immunology, University of Porto

Abstract
Presentation
Inherited cancer susceptibility gene mutations among patients with appendix cancer

Oncology

Research

Speakers:
Andreana Holowatyi

Conference:
CGA-IGC 2022

Friday, Nov 11, 2022 2:30pm – 4:15pm

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