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Predictive biomarker discovery through the parallel integration of clinical trial and functional genomics datasetsOligosaccharyltransferase-subunit mutations in nonsyndromic mental retardationIsolation of a diverged homeobox gene, MOX1, from the BRCA1 region on 17q21 by solution hybrid captureFeedback circuit among INK4 tumor suppressors constrains human glioblastoma developmentExome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinomaMutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosisDistinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of boneA small-cell lung cancer genome with complex signatures of tobacco exposureData mining using the Catalogue of Somatic Mutations in Cancer BioMartCOSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in CancerJAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosisInternational network of cancer genome projects.Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardationA systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardationThe gene for juvenile hyaline fibromatosis maps to chromosome 4q21Mutational processes molding the genomes of 21 breast cancersA comprehensive catalogue of somatic mutations from a human cancer genomeClinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms1-Mb resolution array-based comparative genomic hybridization using a BAC clone set optimized for cancer gene analysisState of the science: an update on renal cell carcinomaMassive genomic rearrangement acquired in a single catastrophic event during cancer developmentGLO1-A novel amplified gene in human cancerComplex landscapes of somatic rearrangement in human breast cancer genomes.COSMIC (the Catalogue of Somatic Mutations in Cancer): a resource to investigate acquired mutations in human cancerThe COSMIC (Catalogue of Somatic Mutations in Cancer) database and websiteRefined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genesA census of human cancer genesMutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.COSMIC 2005Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencingThe Catalogue of Somatic Mutations in Cancer (COSMIC)Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardationArchitectures of somatic genomic rearrangement in human cancer amplicons at sequence-level resolutionMutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephalyMutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitusEmerging patterns of somatic mutations in cancerCo-occurring genomic alterations define major subsets of KRAS-mutant lung adenocarcinoma with distinct biology, immune profiles, and therapeutic vulnerabilities.Somatic SF3B1 mutation in myelodysplasia with ring sideroblastsMutations of the BRAF gene in human cancerIntratumor Heterogeneity and Branched Evolution Revealed by Multiregion Sequencing
P50
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P50
name
P Andrew Futreal
@ast
P Andrew Futreal
@en
P Andrew Futreal
@nl
type
label
P Andrew Futreal
@ast
P Andrew Futreal
@en
P Andrew Futreal
@nl
prefLabel
P Andrew Futreal
@ast
P Andrew Futreal
@en
P Andrew Futreal
@nl