Michael A Simpson


Ontology type: schema:Person     


Person Info

NAME

Michael A

SURNAME

Simpson

Publications in SciGraph latest 50 shown

  • 2019-03 Noncardiac genetic predisposition in sudden infant death syndrome in GENETICS IN MEDICINE
  • 2018-12 Genome-wide meta-analysis implicates mediators of hair follicle development and morphogenesis in risk for severe acne in NATURE COMMUNICATIONS
  • 2018-05 A genome-wide association study for extremely high intelligence in MOLECULAR PSYCHIATRY
  • 2018-01 MED12, TERT promoter and RBM15 mutations in primary and recurrent phyllodes tumours in BRITISH JOURNAL OF CANCER
  • 2017-12 PIK3CA mutations are common in lobular carcinoma in situ, but are not a biomarker of progression in BREAST CANCER RESEARCH
  • 2017-12 Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits in NEUROGENETICS
  • 2017-12 Fine mapping genetic associations between the HLA region and extremely high intelligence in SCIENTIFIC REPORTS
  • 2017-04 Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism in NATURE GENETICS
  • 2017-01 Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2016-08 A genome-wide analysis of putative functional and exonic variation associated with extremely high intelligence in MOLECULAR PSYCHIATRY
  • 2016-08 A genome-wide analysis of putative functional and exonic variation associated with extremely high intelligence in MOLECULAR PSYCHIATRY
  • 2015-12 Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis in NATURE COMMUNICATIONS
  • 2014-12 Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris in NATURE COMMUNICATIONS
  • 2014-10 Epithelial Inflammation Resulting from an Inherited Loss-of-Function Mutation in EGFR in JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • 2014-04 Mutations in TJP2 cause progressive cholestatic liver disease in NATURE GENETICS
  • 2014-03 The Missense Mutation p.R1303Q in Type XVII Collagen Underlies Junctional Epidermolysis Bullosa Resembling Kindler Syndrome in JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • 2014-02 Generalized Pustular Eruptions: Time to Adapt the Disease Taxonomy to the Genetic Architecture? in JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • 2014-02 Germline CDH1 mutations in bilateral lobular carcinoma in situ in BRITISH JOURNAL OF CANCER
  • 2013-12 A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease in ORPHANET JOURNAL OF RARE DISEASES
  • 2013-11 Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development in NATURE GENETICS
  • 2013-10 Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting in NATURE GENETICS
  • 2013-07 Rare Variations in IL36RN in Severe Adverse Drug Reactions Manifesting as Acute Generalized Exanthematous Pustulosis in JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • 2013-06 Negligible impact of rare autoimmune-locus coding-region variants on missing heritability in NATURE
  • 2013-05 Rare Pathogenic Variants in IL36RN Underlie a Spectrum of Psoriasis-Associated Pustular Phenotypes in JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • 2013-03 γ-Secretase Mutations in Hidradenitis Suppurativa: New Insights into Disease Pathogenesis in JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • 2013-02 Elucidating the molecular genetic basis of cluster headache: delineation of the genetic architecture by exome sequencing in THE JOURNAL OF HEADACHE AND PAIN
  • 2013 Elucidating the molecular genetic basis of cluster headache: delineation of the genetic architecture by exome sequencing in THE JOURNAL OF HEADACHE AND PAIN
  • 2013-01 Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy in NATURE GENETICS
  • 2012-11 Milestone 7: in JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • 2012-10 Mutations in the γ-Secretase Genes NCSTN, PSENEN, and PSEN1 Underlie Rare Forms of Hidradenitis Suppurativa (Acne Inversa) in JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • 2012-04 Identification of Rare, Disease-Associated Variants in the Promoter Region of the RNF114 Psoriasis Susceptibility Gene in JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • 2012-01 Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu–Cheney syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2011-10 Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome) in NATURE GENETICS
  • 2011-07 PSENEN and NCSTN Mutations in Familial Hidradenitis Suppurativa (Acne Inversa) in JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • 2011-03-06 Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss in NATURE GENETICS
  • 2010-11 A Three-Stage Genome-Wide Association Study of General Cognitive Ability: Hunting the Small Effects in BEHAVIOR GENETICS
  • 2005-05 A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia in NEUROGENETICS
  • 2004-11 Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase in NATURE GENETICS
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