Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene

Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas

(2011) Laura Thomas et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Loss of exon identity is a common mechanism of human inherited disease

(2011) T. Sterne-Weiler et al.   GENOME RESEARCH

Performance of mutation pathogenicity prediction methods on missense variants

(2011) Janita Thusberg et al.   HUMAN MUTATION

In silico functional profiling of human disease-associated and polymorphic amino acid substitutions

(2010) Matthew Mort et al.   HUMAN MUTATION

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

I-TASSER: a unified platform for automated protein structure and function prediction

(2010) Ambrish Roy et al.   Nature Protocols

Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burden

(2010) Laura Thomas et al.   NEUROGENETICS

Genomic features defining exonic variants that modulate splicing

(2010) Adam Woolfe et al.   GENOME BIOLOGY

Automated inference of molecular mechanisms of disease from amino acid substitutions

(2009) B. Li et al.   BIOINFORMATICS

The pre-GAP-related domain of neurofibromin regulates cell migration through the LIM kinase/cofilin pathway

(2009) Sigal Starinsky-Elbaz et al.   MOLECULAR AND CELLULAR NEUROSCIENCE