Associated Papers
Augmenting precision medicine via targeted RNA-Seq detection of expressed mutations.
Li D et al.
Npj Precision Oncology, 2025
Functional annotation of the Hippo pathway somatic mutations in human cancers.
Han H et al.
Nature Communications, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Novel SOX10 indel mutations drive schwannomas through impaired transactivation of myelination gene programs.
Williams EA et al.
Neuro-oncology, 2023
Integrative genomic and transcriptomic analyses illuminate the ontology of HER2-low breast carcinomas.
Berrino E et al.
Genome Medicine, 2022
Re-evaluation of missense variant classifications in NF2.
Sadler KV et al.
Human Mutation, 2022
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Clinical and analytical validation of FoundationOne Liquid CDx, a novel 324-Gene cfDNA-based comprehensive genomic profiling assay for cancers of solid tumor origin.
Woodhouse R et al.
Plos One, 2020
TAPES: A tool for assessment and prioritisation in exome studies.
Xavier A et al.
Plos Computational Biology, 2019
Phosphorylation of Merlin by Aurora A kinase appears necessary for mitotic progression.
Mandati V et al.
The Journal of Biological Chemistry, 2019
CharGer: clinical Characterization of Germline variants.
Scott AD et al.
Bioinformatics (oxford, England), 2019
Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls.
Kim J et al.
Genome Medicine, 2018
Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findings.
Ahronowitz I et al.
Human Mutation, 2007
Functional analysis of neurofibromatosis 2 (NF2) missense mutations.
Gutmann DH et al.
Human Molecular Genetics, 2001
Functional analysis of the neurofibromatosis type 2 protein by means of disease-causing point mutations.
Stokowski RP et al.
American Journal of Human Genetics, 2000
Probability of bilateral disease in people presenting with a unilateral vestibular schwannoma.
Evans DG et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 1999
Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations.
Evans DG et al.
Journal of Medical Genetics, 1998
A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2.
Kluwe L et al.
Human Genetics, 1996