The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience

Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes

(2013) Michael O. Dorschner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants

(2013) Charlotte Andreasen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Recommendations for returning genomic incidental findings? We need to talk!

(2013) Wylie Burke et al.   GENETICS IN MEDICINE

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

Large Numbers of Genetic Variants Considered to be Pathogenic are Common in Asymptomatic Individuals

(2013) Christopher A. Cassa et al.   HUMAN MUTATION

Impact of Neonatal Screening and Surveillance for the TP53 R337H Mutation on Early Detection of Childhood Adrenocortical Tumors

(2013) Gislaine Custódio et al.   JOURNAL OF CLINICAL ONCOLOGY

Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes

(2012) Jennifer J. Johnston et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Evaluating Pathogenicity of Rare Variants From Dilated Cardiomyopathy in the Exome Era

(2012) Nadine Norton et al.   Circulation-Cardiovascular Genetics

High Prevalence of Long QT Syndrome–Associated SCN5A Variants in Patients With Early-Onset Lone Atrial Fibrillation

(2012) Morten S. Olesen et al.   Circulation-Cardiovascular Genetics

Phenotypical characterization of α-galactosidase A gene mutations identified in a large Fabry disease screening program in stroke in the young

(2012) Isabel De Brabander et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

To tell or not to tell? A systematic review of ethical reflections on incidental findings arising in genetics contexts

(2012) Gabrielle M Christenhusz et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

(2012) William A. Gahl et al.   GENETICS IN MEDICINE

Managing incidental findings and research results in genomic research involving biobanks and archived data sets

(2012) Susan M. Wolf et al.   GENETICS IN MEDICINE

Inferring causality and functional significance of human coding DNA variants

(2012) S. R. Sunyaev   HUMAN MOLECULAR GENETICS

Analysis of DNA sequence variants detected by high-throughput sequencing

(2012) David R. Adams et al.   HUMAN MUTATION

Development and Validation of a Computational Method for Assessment of Missense Variants in Hypertrophic Cardiomyopathy

(2011) Daniel M. Jordan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy: Executive Summary

(2011) et al.   CIRCULATION

Accurate and comprehensive sequencing of personal genomes

(2011) S. S. Ajay et al.   GENOME RESEARCH

LOVD v.2.0: the next generation in gene variant databases

(2011) Ivo F. A. C. Fokkema et al.   HUMAN MUTATION

Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavα1S-subunit

(2010) Antonella Pirone et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing

(2010) J. K. Teer et al.   GENOME RESEARCH

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Multiple Loss-of-Function Mechanisms Contribute to SCN5A-Related Familial Sick Sinus Syndrome

(2010) Junhong Gui et al.   PLoS One

A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example

(2009) Leila Mohammadi et al.   BMC CANCER

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing

(2009) Jamie D. Kapplinger et al.   HEART RHYTHM

Cardiac Sodium Channel ( SCN5A ) Variants Associated with Atrial Fibrillation

(2008) Dawood Darbar et al.   CIRCULATION

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

(2008) C Sue Richards et al.   GENETICS IN MEDICINE