Stacey Bolk Gabriel


Ontology type: schema:Person     


Person Info

NAME

Stacey Bolk

SURNAME

Gabriel

Publications in SciGraph latest 50 shown

  • 2022-08-18 Rare coding variation provides insight into the genetic architecture and phenotypic context of autism in NATURE GENETICS
  • 2022-04-08 Rare coding variants in ten genes confer substantial risk for schizophrenia in NATURE
  • 2022-03-28 Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program in GENOME MEDICINE
  • 2022-01-27 Upregulated heme biosynthesis increases obstructive sleep apnea severity: a pathway-based Mendelian randomization study in SCIENTIFIC REPORTS
  • 2021-08-09 Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans in NATURE
  • 2021-02-10 Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program in NATURE
  • 2021-02-03 Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans in NATURE
  • 2021-02-03 Author Correction: A structural variation reference for medical and population genetics in NATURE
  • 2020-10-14 Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants in NATURE COMMUNICATIONS
  • 2020-08-24 The road ahead in genetics and genomics in NATURE REVIEWS GENETICS
  • 2020-05-27 A structural variation reference for medical and population genetics in NATURE
  • 2020-05-27 The mutational constraint spectrum quantified from variation in 141,456 humans in NATURE
  • 2020-04-17 Infantile Myelofibrosis and Myeloproliferation with CDC42 Dysfunction in JOURNAL OF CLINICAL IMMUNOLOGY
  • 2019-10-21 Correction: Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation in MOLECULAR PSYCHIATRY
  • 2019-05-22 Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls in NATURE
  • 2018-12-19 Neoantigen vaccine generates intratumoral T cell responses in phase Ib glioblastoma trial in NATURE
  • 2018-12-17 Addendum: The Cancer Cell Line Encyclopedia enables predictive modelling of anticancer drug sensitivity in NATURE
  • 2018-10-01 Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia in GENETICS IN MEDICINE
  • 2018-08-14 Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation in MOLECULAR PSYCHIATRY
  • 2018-05-08 Characterization and remediation of sample index swaps by non-redundant dual indexing on massively parallel sequencing platforms in BMC GENOMICS
  • 2018-04-24 Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease in NATURE COMMUNICATIONS
  • 2017-10-27 Analysis commons, a team approach to discovery in a big-data environment for genetic epidemiology in NATURE GENETICS
  • 2017-07-05 An immunogenic personal neoantigen vaccine for patients with melanoma in NATURE
  • 2017-06-27 Rare germline variants in ATM are associated with chronic lymphocytic leukemia in LEUKEMIA
  • 2017-04-13 Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity in NATURE
  • 2017-04-12 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
  • 2017-01-26 Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study in GENETICS IN MEDICINE
  • 2017-01-16 Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing in NATURE GENETICS
  • 2017-01-04 Integrated genomic characterization of oesophageal carcinoma in NATURE
  • 2016-11-30 Genomic evolution and chemoresistance in germ-cell tumours in NATURE
  • 2016-10-26 Technological considerations for genome-guided diagnosis and management of cancer in GENOME MEDICINE
  • 2016-08-17 Analysis of protein-coding genetic variation in 60,706 humans in NATURE
  • 2016-07-18 Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery in NATURE GENETICS
  • 2016-05-20 Clonal evolution in patients with chronic lymphocytic leukaemia developing resistance to BTK inhibition in NATURE COMMUNICATIONS
  • 2016-01-13 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
  • 2015-12-07 Whole-genome sequencing reveals activation-induced cytidine deaminase signatures during indolent chronic lymphocytic leukaemia evolution in NATURE COMMUNICATIONS
  • 2015-10-14 Mutations driving CLL and their evolution in progression and relapse in NATURE
  • 2015-09-09 Phenotypic extremes in rare variant study designs in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-07-20 Paired exome analysis of Barrett's esophagus and adenocarcinoma in NATURE GENETICS
  • 2015-05-25 Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome in NATURE GENETICS
  • 2015-04-06 Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction in NATURE GENETICS
  • 2015-01-28 Comprehensive genomic characterization of head and neck squamous cell carcinomas in NATURE
  • 2014-12-10 Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction in NATURE
  • 2014-10-26 RNF43 is frequently mutated in colorectal and endometrial cancers in NATURE GENETICS
  • 2014-09-01 A framework for the interpretation of de novo mutation in human disease in NATURE GENETICS
  • 2014-07-23 Comprehensive molecular characterization of gastric adenocarcinoma in NATURE
  • 2014-07-09 Comprehensive molecular profiling of lung adenocarcinoma in NATURE
  • 2014-06-04 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
  • 2014-05-18 Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine in NATURE MEDICINE
  • 2014-03-19 Large multiethnic Candidate Gene Study for C-reactive protein levels: identification of a novel association at CD36 in African Americans in HUMAN GENETICS
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