Detecting recent positive selection in the human genome from haplotype structureAssessing the impact of population stratification on genetic association studiesGenome-wide detection and characterization of positive selection in human populationsCLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegenerationEvolutionarily assembled cis-regulatory module at a human ciliopathy locusGenome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other lociAMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorderMutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalitiesBiallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunctionDeep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel diseaseA landscape of driver mutations in melanomaMutational heterogeneity in cancer and the search for new cancer-associated genesIntegrative analysis of the melanoma transcriptomeMelanoma genome sequencing reveals frequent PREX2 mutationsExome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancerThe genomic complexity of primary human prostate cancerBiological, clinical and population relevance of 95 loci for blood lipidsMutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromesInitial genome sequencing and analysis of multiple myelomaGenome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.Somatic mutations affect key pathways in lung adenocarcinomaCharacterizing the cancer genome in lung adenocarcinoma.Integrated genomic analysis identifies clinically relevant subtypes of glioblastoma characterized by abnormalities in PDGFRA, IDH1, EGFR, and NF1A second generation human haplotype map of over 3.1 million SNPsGenome-wide association analysis of metabolic traits in a birth cohort from a founder populationCollaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorderPolymorphisms in signal transducer and activator of transcription 3 and lung function in asthmaBiallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary MicrocephalyPrepublication data sharingAnalysis of protein-coding genetic variation in 60,706 humansEGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy.Activating mTOR mutations in a patient with an extraordinary response on a phase I trial of everolimus and pazopanib.Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine.Colon cancer-derived oncogenic EGFR G724S mutant identified by whole genome sequence analysis is dependent on asymmetric dimerization and sensitive to cetuximab.The structure of haplotype blocks in the human genomeThe Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing dataEpidermal growth factor receptor activation in glioblastoma through novel missense mutations in the extracellular domainPatterns and rates of exonic de novo mutations in autism spectrum disordersMutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy
P50
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P50
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American geneticist
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Amerikaans onderzoekster
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генетик США
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Stacey Gabriel
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Stacey Gabriel
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Stacey Gabriel
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Stacey Gabriel
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Стейси Гэбриел
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Stacey Gabriel
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Stacey Gabriel
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Stacey Gabriel
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Stacey Gabriel
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Стейси Гэбриел
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Гэбриел, Стейси
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Stacey Gabriel
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Stacey Gabriel
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Stacey Gabriel
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Stacey Gabriel
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Стейси Гэбриел
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n2007039796
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