• Armstrong, Linlea


    Investigator, BC Children's Hospital
    Clinical Associate Professor, Department of Medical Genetics, University of British Columbia
    Co-Chair BC Women's Clinical Ethics Board
    Director Faculty Development, Vancouver Fraser Medical Program
    Director Preparation for Medical Practice Course, UBC MDUP

    Degrees / Designations
    B.Sc., MD
    Primary Area of Research
    Childhood Diseases
    Secondary Area(s) of Research
    Lab Phone
    Mailing Address

    BC Children's Hospital
    Room C235 
    4500 Oak Street
    Vancouver, BC V6H 3N1

    Affiliate Websites
    Research Areas
    • Clinical genetics
    • Neurofibromatosis
    • Dysmorphology
    • Hereditary cancer

    Most of my time is spent in the clinical setting caring for patients with genetic concerns, who often have rare problems. I seek to determine the diagnosis. Sometimes we can intervene to prevent complications, or minimize their impact.

    Much of my research has focused on describing and defining rare genetic conditions. This often involves careful consideration of a patient, with comparison and contrast to other patients known to my clinical collaborators, or other patients described in the literature. When patients present with problems not yet diagnosed, I try to predict the involved gene based on the findings, and collaborate with a lab-based geneticist to confirm the mutation.

    I’m interested in determining the best way of delivering health care to patients with genetic concerns, and have several ongoing research projects addressing this in patients with inborn predispositions to tumour development.

    Current Projects
    • Developing educational curriculum in medical genetics for use across various training programs
    • Defining rare phenotypes, and finding genetic etiologies
    Selected Publications

    Armstrong L, Biancheri R, Shyr C, Rossi A, Sinclair G, Ross CJ, Tarailo-Graovac M, Wasserman WW, van Karnebeek CD. 2014. AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset. Neurogenetics 15(3):157-9. PMID: 24958424. doi: 10.1007/s10048-014-0411-3. PMID: 24958424

    Gottlieb MM, Arenillas DJ, Maithripala S, Maurer ZD, Tarailo Graovac M, Armstrong L, Patel M, van Karnebeek C, Wasserman WW. GeneYenta: A Phenotype-Based Rare Disease Case Matching Tool Based on Online Dating Algorithms for the Acceleration of Exome Interpretation. Hum Mutat. 2015 Apr;36(4):432-8. doi: 10.1002/humu.22772. Epub 2015 Mar 19. PMID: 25703386

    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. 2015 Jan;167A(1):95-102. doi: 10.1002/ajmg.a.36799. Epub 2014 Oct 27. PMID: 25348728

    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. 2014 Feb;46(2):182-7. doi: 10.1038/ng.2855. Epub 2013 Dec 22. PMID: 24362817

    Huisma F, Thomas M, Armstrong L. Severe hypospadias and its association with maternal-placental factors. Am J Med Genet A. 2013 Sep;161A(9):2183-7. doi: 10.1002/ajmg.a.36050. Epub 2013 Aug 2. PMID: 23913586

    Pataky R, Armstrong L, Chia S, Coldman AJ, Kim-Sing C, McGillivray B, Scott J, Wilson CM, Peacock S. Cost-effectiveness of MRI for breast cancer screening in BRCA1/2 mutation carriers. BMC Cancer. 2013 Jul 10;13:339. doi: 10.1186/1471-2407-13-339. PMID: 23837641

    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. 2013 Jul;161A(7):1654-61. doi: 10.1002/ajmg.a.36001. Epub 2013 May 25. PMID: 23713011

    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. 2013 Apr-May;33(3):269-75. doi: 10.1097/BPO.0b013e31828121b8. Review. PMID: 23482262

    Schlade-Bartusiak K, Tucker T, Safavi H, Livingston J, van Allen MI, Eydoux P, Armstrong L. Independent post-zygotic breaks of a dicentric chromosome result in mosaicism for an inverted duplication deletion 9p and terminal deletion 9p. Eur J Med Genet. 2013 May;56(5):229-35. doi: 10.1016/j.ejmg.2013.01.013. Epub 2013 Feb 14. PMID: 23416622

    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. 2012 Jun 24;44(8):934-40. doi: 10.1038/ng.2331. PMID: 22729224

    Smith M, Heran MK, Connolly MB, Heran HK, Friedman JM, Jett K, Lyons CJ, Steinbok P, Armstrong L. Cerebrovasculopathy in NF1 associated with ocular and scalp defects. Am J Med Genet A. 2011 Feb;155A(2):380-5. doi: 10.1002/ajmg.a.33788. Epub 2010 Dec 22. PMID: 21271658

    Prevalence of dental caries in children with neurofibromatosis 1. Tsang ES, Birch P, Friedman JM, Johnston D, Tucker T, Armstrong L. Clin Oral Investig. 2010 Aug;14(4):479-80; author reply 480. doi: 10.1007/s00784-009-0361-6. Epub 2010 Jan 5. No abstract available. PMID: 20049496

    Alfadhel M, Pugash D, Robinson AJ, Murphy JJ, Senger C, Afshar K, Armstrong L. Pre- and postnatal findings in a boy with duplication of the bladder and intestine: report and review. Am J Med Genet A. 2009 Dec;149A(12):2795-802. doi: 10.1002/ajmg.a.33091. Review. PMID: 19921644

    Friedman J, Adam S, Arbour L, Armstrong L, Baross A, Birch P, Boerkoel C, Chan S, Chai D, Delaney AD, Flibotte S, Gibson WT, Langlois S, Lemyre E, Li HI, MacLeod P, Mathers J, Michaud JL, McGillivray BC, Patel MS, Qian H, Rouleau GA, Van Allen MI, Yong SL, Zahir FR, Eydoux P, Marra MA. Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization. BMC Genomics. 2009 Nov 16;10:526. doi: 10.1186/1471-2164-10-526. PMID: 19917086

    Cremin CM, Armstrong L, Gill S, Huntsman D, Bajdik C. The identification of Lynch syndrome in British Columbia.Can J Gastroenterol. 2009 Nov;23(11):761-7. PMID: 19893772

    Lehman AM, Friedman JM, Chai D, Zahir FR, Marra MA, Prisman L, Tsang E, Eydoux P, Armstrong L. A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7. Eur J Med Genet. 2009 Nov-Dec;52(6):436-9. doi: 10.1016/j.ejmg.2009.09.006. Epub 2009 Sep 17. PMID: 19772954

    Elefteriou F, Kolanczyk M, Schindeler A, Viskochil DH, Hock JM, Schorry EK, Crawford AH, Friedman JM, Little D, Peltonen J, Carey JC, Feldman D, Yu X, Armstrong L, Birch P, Kendler DL, Mundlos S, Yang FC, Agiostratidou G, Hunter-Schaedle K, Stevenson DA. Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options. Am J Med Genet A. 2009 Oct;149A(10):2327-38. doi: 10.1002/ajmg.a.33045. Review. PMID: 19764036

    Monzon JG, Cremin C, Armstrong L, Nuk J, Young S, Horsman DE, Garbutt K, Bajdik CD, Gill S. Validation of predictive models for germline mutations in DNA mismatch repair genes in colorectal cancer. Int J Cancer. 2010 Feb 15;126(4):930-9. doi: 10.1002/ijc.24808. PMID: 19653273

    Armstrong L, Graham GE, Schimke RN, Collins DL, Kirse DJ, Costello F, Ardinger HH. The Hunter-MacDonald syndrome with expanded phenotype including risk of meningioma: an update and review. Am J Med Genet A. 2008 Jan 1;146A(1):83-92. Review. PMID: 17972300

    Stevenson DA, Viskochil DH, Schorry EK, Crawford AH, D'Astous J, Murray KA, Friedman JM, Armstrong L, Carey JC. The use of anterolateral bowing of the lower leg in the diagnostic criteria for neurofibromatosis type 1. Genet Med. 2007 Jul;9(7):409-12. Review. PMID: 17666887

    Horvath GA, Armstrong L. Report of a fourth individual with a lethal syndrome of choanal atresia, athelia, evidence of renal tubulopathy, and family history of neck cysts. Am J Med Genet A. 2007 Jun 1;143A(11):1231-5. PMID: 17486625

    Chan WM, Andrews C, Dragan L, Fredrick D, Armstrong L, Lyons C, Geraghty MT, Hunter DG, Yazdani A, Traboulsi EI, Pott JW, Gutowski NJ, Ellard S, Young E, Hanisch F, Koc F, Schnall B, Engle EC. Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1. BMC Genet. 2007 May 18;8:26. PMID: 17511870

    Friedman JM, Baross A, Delaney AD, Ally A, Arbour L, Armstrong L, Asano J, Bailey DK, Barber S, Birch P, Brown-John M, Cao M, Chan S, Charest DL, Farnoud N, Fernandes N, Flibotte S, Go A, Gibson WT, Holt RA, Jones SJ, Kennedy GC, Krzywinski M, Langlois S, Li HI, McGillivray BC, Nayar T, Pugh TJ, Rajcan-Separovic E, Schein JE, Schnerch A, Siddiqui A, Van Allen MI, Wilson G, Yong SL, Zahir F, Eydoux P, Marra MA. Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. Am J Hum Genet. 2006 Sep;79(3):500-13. Epub 2006 Jul 25. Erratum in: Am J Hum Genet. 2006 Dec;79(6):1135. Armstrong, Linlea [added]. PMID: 16909388

    Rees MI, Harvey K, Pearce BR, Chung SK, Duguid IC, Thomas P, Beatty S, Graham GE, Armstrong L, Shiang R, Abbott KJ, Zuberi SM, Stephenson JB, Owen MJ, Tijssen MA, van den Maagdenberg AM, Smart TG, Supplisson S, Harvey RJ. Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease. Nat Genet. 2006 Jul;38(7):801-6. Epub 2006 Jun 4. PMID: 16751771

    Armstrong L, Allanson JE, Weaver DD, Bevan CJ, Hobart HH. Unrelated patients with a rearrangement of chromosome 2 causing duplication of 2p23 and deletion of 2q37. Am J Med Genet A. 2005 Apr 30;134(3):299-304. PMID: 15742366

    Armstrong L, Abd El Moneim A, Aleck K, Aughton DJ, Baumann C, Braddock SR, Gillessen-Kaesbach G, Graham JM Jr, Grebe TA, Gripp KW, Hall BD, Hennekam R, Hunter A, Keppler-Noreuil K, Lacombe D, Lin AE, Ming JE, Kokitsu-Nakata NM, Nikkel SM, Philip N, Raas-Rothschild A, Sommer A, Verioes A, Walter C, Wieczorek D, Williams MS, Zackai E, Allanson JE. Further delineation of Kabuki syndrome in 48 well-defined new individuals. Am J Med Genet A. 2005 Jan 30;132(3):265-72. PMID: 15690370

    Wells PS, Roger M, Forgie M, O’Rourke K, Langlois N, Armstrong L, Carson N. The ACE D/D genotype is protective against the development of idiopathic deep vein thrombosis and pulmonary embolism. Thromb Haemost. Nov;90(5)829-34, 2003. PMID: 14597977

    Armstrong L, Jimenez C, Hunter AGW. A boy with developmental delay, multiple malformations and evidence of a connective tissue disorder, possibly a new type of cutis laxa. Am J Med Genet, May 15; 119A1):57-62, 2003. PMID: 12707960

    Honours & Awards
    Research Group Members