Classification of missense substitutions in the BRCA genes: A database dedicated to Ex-UVs

Clinical relevance of rare germline sequence variants in cancer genes: evolution and application of classification models

(2010) Amanda B Spurdle   CURRENT OPINION IN GENETICS & DEVELOPMENT

DBASS3 and DBASS5: databases of aberrant 3'- and 5'-splice sites

(2010) E. Buratti et al.   NUCLEIC ACIDS RESEARCH

Characterization of BRCA1 ring finger variants of uncertain significance

(2009) Kevin Sweet et al.   BREAST CANCER RESEARCH AND TREATMENT

Functional Assays for Classification of BRCA2 Variants of Uncertain Significance

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

Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach

(2008) Marc Tischkowitz et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

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

Genetic evidence and integration of various data sources for classifying uncertain variants into a single model

(2008) David E. Goldgar et al.   HUMAN MUTATION

Assessment of functional effects of unclassified genetic variants

(2008) Fergus J. Couch et al.   HUMAN MUTATION

Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance

(2008) Robert M.W. Hofstra et al.   HUMAN MUTATION

Evaluation of in silico splice tools for decision-making in molecular diagnosis

(2008) Claude Houdayer 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

Clinically Applicable Models to CharacterizeBRCA1andBRCA2Variants of Uncertain Significance

(2008) Andrew D. Spearman et al.   JOURNAL OF CLINICAL ONCOLOGY

Clinical Classification ofBRCA1andBRCA2DNA Sequence Variants: The Value of Cytokeratin Profiles and Evolutionary Analysis—A Report From the kConFab Investigators

(2008) Amanda B. Spurdle et al.   JOURNAL OF CLINICAL ONCOLOGY