Michael A Simpson

Ontology type: schema:Person     

Person Info


Michael A



Publications in SciGraph latest 50 shown

  • 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
  • 2015-12 Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis in NATURE COMMUNICATIONS
  • 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 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
  • 2013-10 Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting in NATURE GENETICS
  • 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
  • 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
  • 2012-01 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
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