Deborah A Nickerson

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Deborah A



Publications in SciGraph latest 50 shown

  • 2019-02 Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance in JOURNAL OF HUMAN GENETICS
  • 2019-02 Genomic characterization of the RH locus detects complex and novel structural variation in multi-ethnic cohorts in GENETICS IN MEDICINE
  • 2019-02 Stargazer: a software tool for calling star alleles from next-generation sequencing data using CYP2D6 as a model in GENETICS IN MEDICINE
  • 2019-01 Discovery of common and rare genetic risk variants for colorectal cancer in NATURE GENETICS
  • 2018-12-03 Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes in GENETICS IN MEDICINE
  • 2018-12 Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment in BMC MEDICAL GENETICS
  • 2018-12 Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann–Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations in HUMAN GENETICS
  • 2018-10 Rare loss of function variants in candidate genes and risk of colorectal cancer in HUMAN GENETICS
  • 2018-09 Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in HUMAN GENETICS
  • 2018-09 Genetic analysis of CHARGE syndrome identifies overlapping molecular biology in GENETICS IN MEDICINE
  • 2018-08 Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers in GENETICS IN MEDICINE
  • 2018-07 A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment in HUMAN GENETICS
  • 2018-04 Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively in GENETICS IN MEDICINE
  • 2018 DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients in NONE
  • 2017-12 Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population in SCIENTIFIC REPORTS
  • 2017-12 A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis in SCIENTIFIC REPORTS
  • 2017-12 Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia in CILIA
  • 2017-10 Identification of ASAH1 as a susceptibility gene for familial keloids in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-07 Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing in GENETICS IN MEDICINE
  • 2017-06 Statin-induced expression change of INSIG1 in lymphoblastoid cell lines correlates with plasma triglyceride statin response in a sex-specific manner in THE PHARMACOGENOMICS JOURNAL
  • 2017-03 Transcriptomic variation of pharmacogenes in multiple human tissues and lymphoblastoid cell lines in THE PHARMACOGENOMICS JOURNAL
  • 2016-12 Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome in SCIENTIFIC REPORTS
  • 2016-12 Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP in BMC MEDICAL GENETICS
  • 2016-10 A reference panel of 64,976 haplotypes for genotype imputation 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 Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-08 Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features in GENETICS IN MEDICINE
  • 2015-12 Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome in NATURE COMMUNICATIONS
  • 2015-12 Prospective participant selection and ranking to maximize actionable pharmacogenetic variants and discovery in the eMERGE Network in GENOME MEDICINE
  • 2015-09 Challenges and solutions for gene identification in the presence of familial locus heterogeneity in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-09 Mutation of ATF6 causes autosomal recessive achromatopsia in HUMAN GENETICS
  • 2015-08 Rare A2ML1 variants confer susceptibility to otitis media in NATURE GENETICS
  • 2015-02 Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction in NATURE
  • 2014-12 Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel in NATURE COMMUNICATIONS
  • 2014-11 The contribution of de novo coding mutations to autism spectrum disorder in NATURE
  • 2013-10 A statin-dependent QTL for GATM expression is associated with statin-induced myopathy in NATURE
  • 2013-08 Novel rare variants in congenital cardiac arrhythmia genes are frequent in drug-induced torsades de pointes in THE PHARMACOGENOMICS JOURNAL
  • 2013-03 Corrigendum: Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants in NATURE
  • 2013-01 Variation in the TLR10/TLR1/TLR6 locus is the major genetic determinant of interindividual difference in TLR1/2-mediated responses in GENES & IMMUNITY
  • 2012-11-28 Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants in NATURE
  • 2012-08 TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome in NATURE GENETICS
  • 2012-04-04 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations in NATURE
  • 2012-04 Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations in NATURE GENETICS
  • 2011-11 Exome sequencing as a tool for Mendelian disease gene discovery in NATURE REVIEWS GENETICS
  • 2011-06 Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations in NATURE GENETICS
  • 2010-09 Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome in NATURE GENETICS
  • 2010-04 Single-nucleotide evolutionary constraint scores highlight disease-causing mutations in NATURE METHODS
  • 2010-01 Exome sequencing identifies the cause of a mendelian disorder in NATURE GENETICS
  • 2009-12 An excess of rare genetic variation in ABCE1 among Yorubans and African-American individuals with HIV-1 in GENES & IMMUNITY
  • 2009-09-10 Targeted capture and massively parallel sequencing of 12 human exomes in NATURE
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