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Author Details

Sara Widaa
2004
22
22
PMIDPaper TitleJournal TitlePublished Year
25999502Tumor evolution. High burden and pervasive positive selection of somatic mutations in normal human skin.Science2015
23974872Genome-wide association analysis identifies 13 new risk loci for schizophrenia.Nat Genet2013
21833088Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.Nature2011
20544845GLO1-A novel amplified gene in human cancer.Genes Chromosomes Cancer2010
19837654PICNIC: an algorithm to predict absolute allelic copy number variation with microarray cancer data.Biostatistics2010
20164919Signatures of mutation and selection in the cancer genome.Nature2010
19915572Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.Nat Genet2009
19377476A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.Nat Genet2009
19330029Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer.Nat Genet2009
18469813X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.Nat Genet2008
17236139Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.Am J Hum Genet2007
17704778Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.Nat Genet2007
17344846Patterns of somatic mutation in human cancer genomes.Nature2007
17436253Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus.Am J Hum Genet2007
17668385Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly.Am J Hum Genet2007
17088437Mutation analysis of 24 known cancer genes in the NCI-60 cell line set.Mol Cancer Ther2006
16175573Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adults.Genes Chromosomes Cancer2006
16618716A hypermutation phenotype and somatic MSH6 mutations in recurrent human malignant gliomas after alkylator chemotherapy.Cancer Res2006
17186471Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation.Am J Hum Genet2006
15908952A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancer.Nat Genet2005
16140923Somatic mutations of the protein kinase gene family in human lung cancer.Cancer Res2005
15457249Lung cancer: intragenic ERBB2 kinase mutations in tumours.Nature2004
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Wellcome Sanger Institute
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Wellcome Sanger Institute
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Clinical Research Facility, Mercy University Hospital
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Murdoch Children's Research Institute, Royal Children's Hospital
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Inivata Ltd
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University of East Anglia
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Wellcome Trust Sanger Institute
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University of Cambridge
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European Bioinformatics Institute
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BGI Hong Kong Tech Co Ltd.
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University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust
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Basser Center for BRCA, Abramson Cancer Center, University of Pennsylvania
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Wellcome Sanger Institute
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William Harvey Research Institute, Queen Mary University of London
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