A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes

Variants of uncertain significance inBRCAtesting: evaluation of surgical decisions, risk perception, and cancer distress

(2013) JO Culver et al.   CLINICAL GENETICS

Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals

(2012) Amélie Piton et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Copy number variation detection and genotyping from exome sequence data

(2012) N. Krumm et al.   GENOME RESEARCH

Biallelic Deleterious BRCA1 Mutations in a Woman with Early-Onset Ovarian Cancer

(2012) Susan M. Domchek et al.   Cancer Discovery

Genetic testing and cancer risk management recommendations by physicians for at-risk relatives

(2011) Sharon E Plon et al.   GENETICS IN MEDICINE

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)

(2011) Noralane M. Lindor et al.   HUMAN MUTATION

Functional differences among BRCA1 missense mutations in the control of centrosome duplication

(2011) Z Kais et al.   ONCOGENE

Comprehensive Analysis of Missense Variations in the BRCT Domain of BRCA1 by Structural and Functional Assays

(2010) Megan S. Lee et al.   CANCER RESEARCH

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

(2010) Tom Walsh et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Functional Assays for Classification of BRCA2 Variants of Uncertain Significance

(2008) D. J. Farrugia et al.   CANCER RESEARCH

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

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

Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications

(2008) Sean V. Tavtigian et al.   HUMAN MUTATION

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

(2008) Sharon E. Plon et al.   HUMAN MUTATION