Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing

Elaine Chen, Flavia M. Facio, Kerry Aradhya, +12

JAMA Network Open

Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation

Rebecca Truty, Karen Ouyang, Susan Rojahn, +7

The American Journal of Human Genetics

Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing

Lisa Dellefave‐Castillo, Allison L. Cirino, Thomas E. Callis, +10

JAMA Cardiology

Hereditary Cancer Risk Using a Genetic Chatbot Before Routine Care Visits

Shivani Nazareth, Laura Hayward, Emilie Simmons, +5

Obstetrics and Gynecology

Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis

Amy C. Sturm, Rebecca Truty, Thomas E. Callis, +9

JAMA Cardiology

Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals

Rebecca Truty, Susan Rojahn, Karen Ouyang, +13

The American Journal of Human Genetics

SequencingDisease-related GenesNext-generation SequencingGeneticsGenetic Epidemiology +8

Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significance

Britt Johnson, Karen Ouyang, Lauren B. Frank, +5

American Journal of Medical Genetics Part A

Genetic TestingPhenotypic VariationUncertain SignificanceGeneticsPolygenic Risk +20

Unexpected actionable genetic variants revealed by multigene panel testing of patients with uterine cancer

Brandie Heald, Sara Mokhtary, Sarah M. Nielsen, +4

Gynecologic Oncology

Efficacy of National Comprehensive Cancer Network Guidelines in Identifying Pathogenic Germline Variants Among Unselected Patients with Prostate Cancer: The PROCLAIM Trial

Neal D. Shore, Mukaram Gazi, Christopher Pieczonka, +24

European Urology Oncology

Comprehensive Genetic Testing for Pediatric Hypertrophic Cardiomyopathy Reveals Clinical Management Opportunities and Syndromic Conditions

Dana B. Gal, Ana Morales, Susan Rojahn, +8

Pediatric Cardiology