David SkidmoreMD

Division of Medical Genetics, Associate Professor


Related information

Email: david.skidmore@iwk.nshealth.ca
Phone: 902-470-8754
Fax: 902-470-8709
Mailing Address: 
Maritime Medical Genetics
IWK Hospital
5850/5980 University Avenue
PO Box 9700
Halifax, Nova Scotia, Canada B3K 6R8
Research Topics:
  • Prenatal diagnosis
  • Embryology
  • Ethnic screening
  • Neurogenetics
  • Undergraduate medical school education
  • Surveillance for congenital abnormalities


  • BSc (University of Vermont)
  • MD (University of Western Ontario)
  • Pediatric Residency (University of Toronto)
  • Clinical Genetics Fellowship (University of Toronto, Sick Kids Hospital)

Selected publications

  • Guernsey DL, Jiang H, Matsuoka M, Evans S, Macgillivray C, Nightingale M, Perry S, Ferguson M, LeBlanc M, Paquette J, Rideout AL, Thomas A, Orr A, McMaster C, Michaud JL, Deal C, Ludman M, Skidmore D, Samuels ME (2011) Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. Nature Genetics. 43(4):360-364.
  • Skidmore DL, Chitayat D, Morgan T, Hinek A, Fischer B, Dimopoulou A, Somers G, Halliday W, Blaser S, Diambomba Y, Lemire EG, Kornak U, Robertson SP (2011) Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS). Am J Med Genet. 155:1848–1856.
  • Guernsey DL, Jiang H, Bedard K, Evans SC, Ferguson M, Matsuoka M, Macgillivray C, Nightingale M, Perry S, Rideout AL, Orr A, Ludman M, Skidmore DL, Benstead T, Samuels ME (2010).  Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease. PloS Genetics.  6(8):e1001081.
  • Lovett M, Skidmore, DL,  Mohamed, IS  (2014). Valproate-induced Pseudoatrophy: Expanding the Clinical and Imaging Spectrum. Pediatric Neurology 51:284-285.


  • Fellow, Canadian College of Medical Genetics
  • Co-head, SCA-NS (Surveillance of Congenital Abnormalities in NS)
  • Component Head of Embryology, Human Development Course, First Year Medical Class
  • Head, Saint John Clinical Genetics Outreach Clinic