Linlea Armstrong

Department of Medical Genetics
Children’s & Women’s Health Centre of B.C.
Room C234

4500 Oak Street

VancouverBC V6H 3N1


Primary Activities: 

  • Caring for people with (or with increased chance of) genetic differences, with a concentration on those that predispose to tumours or differences in sexual development.
  • Clinical research projects that complement patient care.
  • Educational leadership and faculty development.

Selected Publications:

Armstrong L, Clarke JT. Report of a new case of “genitopatellar” syndrome which challenges the importance of absent patellae as a defining feature. J Med Genet. 2002 Dec;39(12):933-4.

Armstrong L, McGowan-Jordan J, Brierley K, Allanson JE. De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotype. Am J Med Genet. 2003 Jan 1;116A(1):71-6.

Armstrong L, Jimenez C, Hunter AG. A boy with developmental delay, malformations, and evidence of a connective tissue disorder: possibly a new type of cutis laxa. Am J Med Genet. 2003 May 15;119A(1):57-62.

Rivière JB, Mirzaa GM, O’Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GM, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu CL; Finding of Rare Disease Genes (FORGE) Canada Consortium, Majewski J, Bulman DE, O’Driscoll M, Shendure J, Graham JM Jr, Boycott KM, Dobyns WB.  De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet 44(8):934-40, Jun 24 2012.

Huisma F, Thomas M, Armstrong L. Severe hypospadias and its association with maternal-placental factors.  Am J Med Genet A. 161(9):2183-7, Sep 2013.

Armstrong L, Jett K, Birch P, Kendler DL, McKay H, Tsang E, Stevenson DA, Hanley DA, Egeli D, Burrows M, Friedman JM.  The generalized bone phenotype in children with neurofibromatosis 1: a sibling matched case-control study. Am J Med Genet A. 161A(7):1654-61, Jul 2013.

Stevenson DA, Little D, Armstrong L, Crawford AH, Eastwood D, Friedman JM, Greggi T, Gutierrez G, Hunter-Schaedle K, Kendler DL, Kolanczyk M, Monsell F, Oetgen M, Richards BS, Schindeler A, Schorry EK, Wilkes D, Viskochil DH, Yang FC, Elefteriou F.  Approaches to treating NF1 tibial pseudarthrosis: consensus from the Children’s Tumor Foundation NF1 Bone Abnormalities Consortium. J Pediatr Orthop 33(3):269-75, Apr-May 2013.

Piotrowski A, Xie J, Liu YF, Poplawski AB, Gomes AR, Madanecki P, Fu C, Crowley MR, Crossman DK, Armstrong L, Babovic-Vuksanovic D, Bergner A, Blakeley JO, Blumenthal AL, Daniels MS, Feit H, Gardner K, Hurst S, Kobelka C, Lee C, Nagy R, Rauen KA, Slopis JM, Suwannarat P, Westman JA, Zanko A, Korf BR, Messiaen LM.  Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. Nat Genet 46(2):182-7, Feb 2014.

Armstrong L, Biancheri R, Shyr C, Rossi A, Sinclair G, Ross CJ, Tarailo-Graovac M, Wasserman WW, van Karnebeek CDM.  AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset Neurogenetics. 2014 Aug;15(3):157-9

Giampietro PF, Armstrong L, Stoddard A, Blank RD, Livingston J, Raggio CL, Rasmussen K, Pickart M, Lorier R, Turner A, Sund S, Sobrera N, Neptune E, Sweetser D, Santiago-Cornier A, Broeckel U. Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.  Am J Med Genet A. 2014