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Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardationA small-cell lung cancer genome with complex signatures of tobacco exposureMutations 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 4q21A comprehensive catalogue of somatic mutations from a human cancer genomeGenome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controlsAbdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1GLO1-A novel amplified gene in human cancerComplex landscapes of somatic rearrangement in human breast cancer genomes.Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosisMutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencingGenome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A regionMutations 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 habitusMutations of the BRAF gene in human cancerMutations 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 tremorGenome-wide association analysis identifies 13 new risk loci for schizophreniaGenome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architectureA variant in LDLR is associated with abdominal aortic aneurysmGenome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibilityA genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.Imputation-based meta-analysis of severe malaria in three African populations.Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke.Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genesHigh-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis.Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry.PICNIC: an algorithm to predict absolute allelic copy number variation with microarray cancer data.Somatic mutations of the histone H3K27 demethylase gene UTX in human cancerThe correlation between reading and mathematics ability at age twelve has a substantial genetic component.Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardationCommon variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus.Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlationLung cancer: intragenic ERBB2 kinase mutations in tumours.The gene for cherubism maps to chromosome 4p16.3.
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P50
description
hulumtuese
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researcher
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wetenschapper
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հետազոտող
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name
Sarah Edkins
@ast
Sarah Edkins
@en
Sarah Edkins
@es
Sarah Edkins
@nl
Sarah Edkins
@sl
type
label
Sarah Edkins
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Sarah Edkins
@en
Sarah Edkins
@es
Sarah Edkins
@nl
Sarah Edkins
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prefLabel
Sarah Edkins
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Sarah Edkins
@en
Sarah Edkins
@es
Sarah Edkins
@nl
Sarah Edkins
@sl
P106
P21
P31
P496
0000-0003-0717-1972