The Validation and Clinical Implementation of BRCAplus: A Comprehensive High-Risk Breast Cancer Diagnostic Assay

Targeting the BRCA1/2 Tumor Suppressors

(2014) Eliot Rosen et al.   CURRENT DRUG TARGETS

Tamoxifen and Risk of Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers

(2013) Kelly-Anne Phillips et al.   JOURNAL OF CLINICAL ONCOLOGY

Diagnostic approaches to apparent homozygosity

(2012) Megan L. Landsverk et al.   GENETICS IN MEDICINE

Detecting false-positive signals in exome sequencing

(2012) Karin V. Fuentes Fajardo et al.   HUMAN MUTATION

Assessment of Target Enrichment Platforms Using Massively Parallel Sequencing for the Mutation Detection for Congenital Muscular Dystrophy

(2012) C. Alexander Valencia et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Hereditary breast cancer: clinical features and risk reduction strategies

(2011) A. Paradiso et al.   ANNALS OF ONCOLOGY

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

(2011) Iñaki Comino-Méndez et al.   NATURE GENETICS

Synthetic lethal targeting ofPTENmutant cells with PARP inhibitors

(2009) Ana M. Mendes-Pereira et al.   EMBO Molecular Medicine

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

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

Hereditary breast cancer: new genetic developments, new therapeutic avenues

(2008) Philippe M. Campeau et al.   HUMAN GENETICS

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

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