Associated Papers
Functional characterization of all CDKN2A missense variants and comparison to in silico models of pathogenicity.
Kimura H et al.
Elife, 2025
Functional characterization of all CDKN2A missense variants and comparison to in silico models of pathogenicity.
Kimura H et al.
Biorxiv : the Preprint Server for Biology, 2025
Identification of novel germline and somatic mutations associated with hepatocellular carcinoma by next-generation sequencing.
Laaribi AB et al.
Frontiers in Pharmacology, 2025
Mutation and cell state compatibility is required and targetable in Ph+ acute lymphoblastic leukemia minimal residual disease.
Winter PS et al.
Biorxiv : the Preprint Server for Biology, 2024
Isolation and characterization of two newly established thymoma PDXs from two relapses of the same patient: a new tool to investigate thymic malignancies.
Mendogni P et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2022
Investigating the Retained Inhibitory Effect of Cobimetinib against p.P124L Mutated MEK1: A Combined Liquid Biopsy and in Silico Approach.
Catoni C et al.
Cancers, 2022
Acquired somatic variants in inherited myeloid malignancies.
Armes H et al.
Leukemia, 2022
Functional CDKN2A assay identifies frequent deleterious alleles misclassified as variants of uncertain significance.
Kimura H et al.
Elife, 2022
The LOVD3 platform: efficient genome-wide sharing of genetic variants.
Fokkema IFAC et al.
European Journal of Human Genetics : Ejhg, 2021
Integrated genomic-metabolic classification of acute myeloid leukemia defines a subgroup with NPM1 and cohesin/DNA damage mutations.
Simonetti G et al.
Leukemia, 2021
Defining relative mutational difficulty to understand cancer formation.
Shan L et al.
Cell Discovery, 2020
appreci8: a pipeline for precise variant calling integrating 8 tools.
Sandmann S et al.
Bioinformatics (oxford, England), 2018
Whole-exome sequencing identifies germline mutation in TP53 and ATRX in a child with genomically aberrant AT/RT and her mother with anaplastic astrocytoma.
Nordfors K et al.
Cold Spring Harbor Molecular Case Studies, 2018
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
Preleukemic and second-hit mutational events in an acute myeloid leukemia patient with a novel germline RUNX1 mutation.
Ng IK et al.
Biomarker Research, 2018
Frequent Genetic Aberrations in the CDK4 Pathway in Acral Melanoma Indicate the Potential for CDK4/6 Inhibitors in Targeted Therapy.
Kong Y et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017
A germline mutation of CDKN2A and a novel RPLP1-C19MC fusion detected in a rare melanotic neuroectodermal tumor of infancy: a case report.
Barnes DJ et al.
Bmc Cancer, 2016
BRAF(V600E) Kinase Domain Duplication Identified in Therapy-Refractory Melanoma Patient-Derived Xenografts.
Kemper K et al.
Cell Reports, 2016
Circulating tumour DNA profiling reveals heterogeneity of EGFR inhibitor resistance mechanisms in lung cancer patients.
Chabon JJ et al.
Nature Communications, 2016
Whole-exome sequencing of Finnish hereditary breast cancer families.
Määttä K et al.
European Journal of Human Genetics : Ejhg, 2016
Colorectal Cancer Genetic Heterogeneity Delineated by Multi-Region Sequencing.
Lu YW et al.
Plos One, 2016
Development and validation of a whole-exome sequencing test for simultaneous detection of point mutations, indels and copy-number alterations for precision cancer care.
Rennert H et al.
Npj Genomic Medicine, 2016
Inherited breast cancer predisposition in Asians: multigene panel testing outcomes from Singapore.
Wong ESY et al.
Npj Genomic Medicine, 2016
Recurrent patterns of dual RB and p53 pathway inactivation in melanoma.
Yang G et al.
The Journal of Investigative Dermatology, 2005
Somatic INK4a-ARF locus mutations: a significant mechanism of gene inactivation in squamous cell carcinomas of the head and neck.
Poi MJ et al.
Molecular Carcinogenesis, 2001
Tumor suppressor INK4: quantitative structure-function analyses of p18INK4C as an inhibitor of cyclin-dependent kinase 4.
Li J et al.
Biochemistry, 2000