Stacey Gabriel

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Publications in SciGraph latest 50 shown

  • 2018-12 Characterization and remediation of sample index swaps by non-redundant dual indexing on massively parallel sequencing platforms in BMC GENOMICS
  • 2018-12 Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease in NATURE COMMUNICATIONS
  • 2018-10-01 Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia in GENETICS IN MEDICINE
  • 2017-12-19 Sequence data and association statistics from 12,940 type 2 diabetes cases and controls in SCIENTIFIC DATA
  • 2017-11 Analysis commons, a team approach to discovery in a big-data environment for genetic epidemiology in NATURE GENETICS
  • 2017-10 Rare germline variants in ATM are associated with chronic lymphocytic leukemia in LEUKEMIA
  • 2017-07 An immunogenic personal neoantigen vaccine for patients with melanoma in NATURE
  • 2017-07 Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study in GENETICS IN MEDICINE
  • 2017-06 Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-04-12 Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity in NATURE
  • 2017-03 Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing in NATURE GENETICS
  • 2016-12 Technological considerations for genome-guided diagnosis and management of cancer in GENOME MEDICINE
  • 2016-12 Genomic evolution and chemoresistance in germ-cell tumours in NATURE
  • 2016-10 A reference panel of 64,976 haplotypes for genotype imputation in NATURE GENETICS
  • 2016-09 Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery in NATURE GENETICS
  • 2016-08 Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-08 The genetic architecture of type 2 diabetes in NATURE
  • 2016-08 Analysis of protein-coding genetic variation in 60,706 humans in NATURE
  • 2016-06 Phenotypic extremes in rare variant study designs in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-05-20 Clonal evolution in patients with chronic lymphocytic leukaemia developing resistance to BTK inhibition in NATURE COMMUNICATIONS
  • 2016-01-21 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function in NATURE COMMUNICATIONS
  • 2015-12 Whole-genome sequencing reveals activation-induced cytidine deaminase signatures during indolent chronic lymphocytic leukaemia evolution in NATURE COMMUNICATIONS
  • 2015-10 A global reference for human genetic variation in NATURE
  • 2015-10 Mutations driving CLL and their evolution in progression and relapse in NATURE
  • 2015-09 Paired exome analysis of Barrett's esophagus and adenocarcinoma in NATURE GENETICS
  • 2015-07 Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome in NATURE GENETICS
  • 2015-05 Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction in NATURE GENETICS
  • 2015-02 Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction in NATURE
  • 2014-12 Colon cancer-derived oncogenic EGFR G724S mutant identified by whole genome sequence analysis is dependent on asymmetric dimerization and sensitive to cetuximab in MOLECULAR CANCER
  • 2014-12 RNF43 is frequently mutated in colorectal and endometrial cancers in NATURE GENETICS
  • 2014-09 A framework for the interpretation of de novo mutation in human disease in NATURE GENETICS
  • 2014-08 Large multiethnic Candidate Gene Study for C-reactive protein levels: identification of a novel association at CD36 in African Americans in HUMAN GENETICS
  • 2014-07-23 Comprehensive molecular characterization of gastric adenocarcinoma in NATURE
  • 2014-07-09 Comprehensive molecular profiling of lung adenocarcinoma in NATURE
  • 2014-06 Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine in NATURE MEDICINE
  • 2014-04 Loss-of-function mutations in SLC30A8 protect against type 2 diabetes in NATURE GENETICS
  • 2014-02 A polygenic burden of rare disruptive mutations in schizophrenia in NATURE
  • 2014-02 Landscape of genomic alterations in cervical carcinomas in NATURE
  • 2014-01 Discovery and saturation analysis of cancer genes across 21 tumour types in NATURE
  • 2013-11 Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes in NATURE GENETICS
  • 2013-10 Pan-cancer patterns of somatic copy number alteration in NATURE GENETICS
  • 2013-10 Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2013-07 Mutational heterogeneity in cancer and the search for new cancer-associated genes in NATURE
  • 2013-05-01 Integrated genomic characterization of endometrial carcinoma in NATURE
  • 2013-05 Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity in NATURE GENETICS
  • 2013-03 The genetic landscape of high-risk neuroblastoma in NATURE GENETICS
  • 2013-03 Corrigendum: Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants in NATURE
  • 2013-03 Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples in NATURE BIOTECHNOLOGY
  • 2013-03 Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing in NATURE GENETICS
  • 2012-12 Pacific biosciences sequencing technology for genotyping and variation discovery in human data in BMC GENOMICS
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