• Eydoux, Patrice


    Investigator, BC Children's Hospital
    Clinical Professor, Department of Pathology and Laboratory Medicine, University of British Columbia

    Degrees / Designations

    MSc, MD, FCCMG

    Primary Area of Research
    Evidence to Innovation
    Secondary Area(s) of Research
    604-875-2000 ext. 3602
    Lab Phone
    Mailing Address

    Centre for Molecular Medicine and Therapeutics
    Room 2091
    950 W 28th Avenue
    Vancouver, BC, V5Z 4H4

    Affiliate Websites
    Research Areas
    • Cytogenetics 
    • Chromosomal abnormalities
    • Variants of unknown significance

    My research focuses on improving the understanding of how chromosomal abnormalities result in an abnormal phenotype (e.g. cancer, malformations, or intellectual disability). I am also interested in the applications of genomics to the area of clinical diagnosis. 

    Current Projects
    Selected Publications

    Lehman A, Stittrich AB, Glusman G, Zong Z, Li H, Eydoux P, Senger C, Lyons C, Roach JC, Patel M. (2014). Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations. America journal of medical genetics. Part A. 164A(10): 2656-62. PMID: 25091416 

    Cohen AS, Townsend KN, Xiang QS, Attariwala R, Borchers C, Senger C, Picker W, Levi J, Yewchuk L, Tan J, Eydoux P, Lum A, Yong SL, McKinnon ML, Lear SA, Everett R, Jones SJ, Yip S, Gibson WT. (2014). Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis. American journal of medical genetics. Part A. 164A(9): 2360-4. PMID: 24903541

    Chung BK, Eydoux P, An Karnebeek CD, Gibson WT. (2014). Duplication of AKT3 is associated with macrocephaly and speech delay. American journal of medical genetics. Part A. 164A(7): 1868-9. PMID: 24700746

    Tucker T, Zahir FR, Griffith M, Delaney A, Chai D, Tsang E, Lemyre E, Dobrzeniecka S, Marra M, Eydoux P, Langlois S, Hamdan FF, Michaud JL, Friedman JM. (2014). Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes. European journal of human genetics: EJHG 22(6): 792-800 PMID: 24253858

    Brown LA, Rupps R, Penaherrera MS, Robinson WP, Patel MS, Eydoux P, Boerkoel CF. (2014). A cryptic familial rearrangement of 11p15.5, involving both imprinting centres, in a family with a history of short stature. American journal of medical genetics. Part A. 164A(6): 1587-94 PMID: 24668696

    van Karnebeek CD, Sly WS, Ross CJ, Salvarinova R, Yaplito-Lee J, Santra S, Shyr C, Horvath GA, Eydoux P, Lehman AM, Bernard V, Newlove T, Ukpeh H, Chakrapani A, Preece MA, Ball S, Pitt J, Vallance HD, Coulter-Mackie M, Nguyen H, Zhang LH, Bhavsar AP, Sinclair G, Waheed, A, Wasserman WW, Stockler-Ipsiroglu S. (2014). Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood. American journal of human genetics. 94(3): 453-61. PMID: 24530203

    Schlade-Bartusiak K, Tucker T, Safavi H, Livingston J, van Allen MI, Eydoux P, Armstrong L. (2013). Independent post-zygotic breaks of a dicentric chromosone result in mosaicism for an inverted duplication deletion 9p and terminal deletion 9p. European journal of medical genetics. 56(5). PMID: 23416622

    Potter KJ, Creighton S, Armstrong L, Eydoux P, Duncan W, Penny DJ, Fan Y, Gibson WT. (2013).The c.7409G>A (p.Cys2470Tyr) Variant of FBN1: Phenotypic Variability across Three Generations. Molecular syndromology. 4(3) PMID: 23653584

    Tsang E, Rupps R, McGilivray B, Eydoux P, Marra M, Arbour L, Langlois S, Friedman JM, Zahir FR. (2012). Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome. American journal of medical genetics. Part A. 158A(10) PMID: 22903878

    Schlade-Bartusiak K, Brown L, Lomax B, Bruyere H, Gillian T, Hamilton S, McGillivray B, Eydoux P. (2012). BPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation t(3;11)(q22.3;q14.1). American journal of medical genetics. Part A. 158A(9) PMID: 22887799 


    2011/9-2016/9 Rare Obesity Disorders Informing Common Disease, CIHR Operating Grant; Co-investigator (PI: William Gibson)

    2010/9-2011/9 Rare Obesity Disorders Informing Common Disease, CIHR Operating Grant INMD Start-up Funds; Co-investigator (PI: William Gibson)

    2009/1-2013/12 IRNPQ/Cogenital malformations, CIHR Operating Grant; Co-investigator (PI: William Fraser)

    Honours & Awards
    Research Group Members