CDKN2AUnclassified Variants in Familial Malignant Melanoma: Combining Functional and Computational Approaches for Their Assessment

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

(2013) Bryony A Thompson et al.   NATURE GENETICS

Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions

(2012) Bryony A. Thompson et al.   HUMAN MUTATION

A Multifactorial Likelihood Model for MMR Gene Variant Classification Incorporating Probabilities Based on Sequence Bioinformatics and Tumor Characteristics: A Report from the Colon Cancer Family Registry

(2012) Bryony A. Thompson et al.   HUMAN MUTATION

Familial Melanoma–Associated Mutations in p16 Uncouple its Tumor-Suppressor Functions

(2012) Noah C. Jenkins et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

CDKN2Ais the main susceptibility gene in Italian pancreatic cancer families

(2012) Paola Ghiorzo et al.   JOURNAL OF MEDICAL GENETICS

Identification and In Silico Analysis of Novel von Hippel-Lindau (VHL) Gene Variants from a Large Population

(2011) Emanuela Leonardi et al.   ANNALS OF HUMAN GENETICS

Friedreich’s Ataxia Variants I154F and W155R Diminish Frataxin-Based Activation of the Iron–Sulfur Cluster Assembly Complex

(2011) Chi-Lin Tsai et al.   BIOCHEMISTRY

RING: networking interacting residues, evolutionary information and energetics in protein structures

(2011) A. J. M. Martin et al.   BIOINFORMATICS

Classifying variants of CDKN2A using computational and laboratory studies

(2011) Peter J. Miller et al.   HUMAN MUTATION

Contribution of susceptibility gene variants to melanoma risk in families from the Veneto region of Italy

(2011) Chiara Menin et al.   Pigment Cell & Melanoma Research

Predicting functional significance of cancer-associated p16INK4a mutations in CDKN2A

(2010) Heather A. McKenzie et al.   HUMAN MUTATION

Functional, structural, and genetic evaluation of 20CDKN2Agerm line mutations identified in melanoma-prone families or patients

(2009) Caroline Kannengiesser et al.   HUMAN MUTATION

Clinical genetic testing for familial melanoma in Italy: A cooperative study

(2009) William Bruno et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Functional impairment of p16INK4A due to CDKN2A p.Gly23Asp missense mutation

(2009) Maria Chiara Scaini et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

p16INK4a-induced senescence is disabled by melanoma-associated mutations

(2008) Sebastian Haferkamp et al.   AGING CELL

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

In silico analysis of missense substitutions using sequence-alignment based methods

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

Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes

(2008) Marc S. Greenblatt 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

GROMACS 4:  Algorithms for Highly Efficient, Load-Balanced, and Scalable Molecular Simulation

(2008) Berk Hess et al.   Journal of Chemical Theory and Computation

CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma

(2008) L. Pastorino et al.   Pigment Cell & Melanoma Research