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.


Case Series: A Kindred With Eruptive Vellus Hair Cysts and Systemic Features
Journal of Cutaneous Medicine and Surgery
Marisa G. Ponzo, Margot I. Van Allen, Linlea Armstrong, Magdalena Martinka, Jan P. Dutz
DOI: 10.1177/1203475417719044

Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability
BMC Genomics
Farah R. Zahir, Jill C. Mwenifumbo, Hye-Jung E. Chun, Emilia L. Lim, Clara D. M. Van Karnebeek, Madeline Couse, Karen L. Mungall, Leora Lee, Nancy Makela, Linlea Armstrong, Cornelius F. Boerkoel, Sylvie L. Langlois, Barbara M. McGillivray, Steven J. M. Jones, Jan M. Friedman, Marco A. Marra
DOI: 10.1186/s12864-017-3671-0

A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome
American Journal of Medical Genetics Part A
Linlea Armstrong, Maja Tarailo-Graovac, Graham Sinclair, Kimberly I. Seath, Wyeth W. Wasserman, Colin J. Ross, Clara D. M. van Karnebeek
DOI: 10.1002/ajmg.a.37621

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome
The American Journal of Human Genetics
Hannah Sleven, Seth J. Welsh, Jing Yu, Mair E.A. Churchill, Caroline F. Wright, Alex Henderson, Rita Horvath, Julia Rankin, Julie Vogt, Alex Magee, Vivienne McConnell, Andrew Green, Mary D. King, Helen Cox, Linlea Armstrong, Anna Lehman, Tanya N. Nelson, Jonathan Williams, Penny Clouston, James Hagman, Andrea H. Németh
DOI: 10.1016/j.ajhg.2016.11.020

Successful umbilical cord blood hematopoietic stem cell transplantation in pediatric patients with MDS/AML associated with underlying GATA2 mutations: two case reports and review of literature
Pediatric Transplantation
Kanwaldeep Mallhi, David B. Dix, Karen Y. Niederhoffer, Linlea Armstrong, Jacob Rozmus
DOI: 10.1111/petr.12764

Exome Sequencing and the Management of Neurometabolic Disorders.
Tarailo-Graovac M, Shyr C, Ross CJ, Horvath GA, Salvarinova R, Ye XC, Zhang LH, Bhavsar AP, Lee JJ, Drögemöller BI, Abdelsayed M, Alfadhel M, Armstrong L, Baumgartner MR, Burda P, Connolly MB, Cameron J, Demos M, Dewan T, Dionne J
DOI: 10.1056/nejmoa1515792
PubMed: 27276562

MG-116 Report of 2 families with emberger syndrome (GATA2 mutation): Recognition of variance in clinical phenotype allows detection prior to malignant presentation
Journal of Medical Genetics
Karen Y Niederhoffer, David Dix, Wingfield Rehmus, Barbara McGillivray, Linlea Armstrong
DOI: 10.1136/jmedgenet-2015-103577.9

GeneYenta: A Phenotype­Based Rare Disease Case Matching Tool Based on Online Dating Algorithms for the Acceleration of Exome InterpretationHUMAN MUTATION
Human Mutation
Michael M. Gottlieb, David J. Arenillas, Savanie Maithripala, Zachary D. Maurer, Maja Tarailo­Graovac, Linlea Armstrong, Millan Patel, Clara van Karnebeek, Wyeth W. Wasserman
DOI: 10.1002/humu.22772

Whole exome sequencing identifies aPOLRIDmutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes
American Journal of Medical Genetics Part A
Philip F. Giampietro, Linlea Armstrong, Alex Stoddard, Robert D. Blank, Janet Livingston, Cathy L. Raggio, Kristen Rasmussen, Michael Pickart, Rachel Lorier, Amy Turner, Sarah Sund, Nara Sobrera, Enid Neptune, David Sweetser, Alberto Santiago-Cornier, Ulrich Broeckel
DOI: 10.1002/ajmg.a.36799

AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset.
Armstrong L, Biancheri R, Shyr C, Rossi A, Sinclair G, Ross CJ, Tarailo-Graovac M, Wasserman WW, van Karnebeek CD
DOI: 10.1007/s10048-014-0411-3
PubMed: 24958424

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.
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
DOI: 10.1038/ng.2855
PubMed: 24362817

Severe hypospadias and its association with maternal-placental factors
American Journal of Medical Genetics Part A
Felicity Huisma, Marion Thomas, Linlea Armstrong
DOI: 10.1002/ajmg.a.36050

Cost-effectiveness of MRI for breast cancer screening in BRCA1/2 mutation carriers
BMC Cancer
Reka Pataky, Linlea Armstrong, Stephen Chia, Andrew J Coldman, Charmaine Kim-Sing, Barbara McGillivray, Jenna Scott, Christine M Wilson, Stuart Peacock
DOI: 10.1186/1471-2407-13-339

The generalized bone phenotype in children with neurofibromatosis 1: A sibling matched case-control study
American Journal of Medical Genetics Part A
Linlea Armstrong, Kimberly Jett, Patricia Birch, David L. Kendler, Heather McKay, Erica Tsang, David A. Stevenson, David A. Hanley, Deetria Egeli, Melonie Burrows, J.M. Friedman
DOI: 10.1002/ajmg.a.36001

Independent post-zygotic breaks of a dicentric chromosome result in mosaicism for an inverted duplication deletion 9p and terminal deletion 9p
European Journal of Medical Genetics
Kamilla Schlade-Bartusiak, Tracy Tucker, Holly Safavi, Janet Livingston, Margot I. van Allen, Patrice Eydoux, Linlea Armstrong
DOI: 10.1016/j.ejmg.2013.01.013

Approaches to Treating NF1 Tibial PseudarthrosisConsensus From the Children’s Tumor Foundation NF1 Bone Abnormalities Consortium
Journal of Pediatric Orthopaedics
David A. Stevenson, David Little, Linlea Armstrong, Alvin H. Crawford, Deborah Eastwood, Jan M. Friedman, Tiziana Greggi, Gloria Gutierrez, Kim Hunter-Schaedle, David L. Kendler, Mateusz Kolanczyk, Fergal Monsell, Matthew Oetgen, B. Stephens Richards, Aaron Schindeler, Elizabeth K. Schorry, David Wilkes, David H. Viskochil, Feng-Chun Yang, Florent Elefteriou
DOI: 10.1097/bpo.0b013e31828121b8

CCMG statement on gene patents.
Richer J, Nelson TN, Evans J, Armstrong L, Lauzon J, McGillivray B
DOI: 10.1111/cge.12009
PubMed: 23051176

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
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
DOI: 10.1038/ng.2331
PubMed: 22729224

Prevalence of dental caries in children with neurofibromatosis 1
Clinical Oral Investigations
Erica S. Tsang, Patricia Birch, Jan M. Friedman, Douglas Johnston, Tracy Tucker, Linlea Armstrong
DOI: 10.1007/s00784-009-0361-6

Cerebrovasculopathy in NF1 associated with ocular and scalp defects
American Journal of Medical Genetics Part A
Matt Smith, Manraj K.S. Heran, Mary B. Connolly, Harindar K. Heran, J.M. Friedman, Kimberly Jett, Christopher J. Lyons, Paul Steinbok, Linlea Armstrong
DOI: 10.1002/ajmg.a.33788

Lynch syndrome-chasing a better ascertainment rate in British Columbia
Hereditary Cancer in Clinical Practice
Carol Cremin, Morteza Bashash, Linlea Armstrong, Sharlene Gill, David Huntsman, Chris Bajdik
DOI: 10.1186/1897-4287-8-s1-p5

A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7
European Journal of Medical Genetics
Anna M. Lehman, Jan M. Friedman, David Chai, Farah R. Zahir, Marco A. Marra, Larraine Prisman, Erica Tsang, Patrice Eydoux, Linlea Armstrong
DOI: 10.1016/j.ejmg.2009.09.006

Skeletal abnormalities in neurofibromatosis type 1: Approaches to therapeutic options
American Journal of Medical Genetics Part A
Florent Elefteriou, Mateusz Kolanczyk, Aaron Schindeler, David H. Viskochil, Janet M. Hock, Elizabeth K. Schorry, Alvin H. Crawford, Jan M. Friedman, David Little, Juha Peltonen, John C. Carey, David Feldman, Xijie Yu, Linlea Armstrong, Patricia Birch, David L. Kendler, Stefan Mundlos, Feng-Chun Yang, Gina Agiostratidou, Kim Hunter-Schaedle, David A. Stevenson
DOI: 10.1002/ajmg.a.33045

Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols
Prenatal Diagnosis
Sylvie Langlois, Linlea Armstrong, Kim Gall, Gurdip Hulait, Janet Livingston, Tanya Nelson, Patricia Power, Denise Pugash, Dawn Siciliano, Michelle Steinraths, André Mattman
DOI: 10.1002/pd.2326

A novelKCNA1mutation associated with global delay and persistent cerebellar dysfunction
Movement Disorders
Michelle K. Demos, Vincenzo Macri, Kevin Farrell, Tanya N. Nelson, Kristine Chapman, Eric Accili, Linlea Armstrong
DOI: 10.1002/mds.22467

The Identification of Lynch Syndrome in British Columbia
Canadian Journal of Gastroenterology
Carol M Cremin, Linlea Armstrong, Sharlene Gill, David Huntsman, Chris Bajdik
DOI: 10.1155/2009/620518

Validation of predictive models for germline mutations in DNA mismatch repair genes in colorectal cancer
International Journal of Cancer
Jose G. Monzon, Carol Cremin, Linlea Armstrong, Jennifer Nuk, Sean Young, Doug E. Horsman, Kristy Garbutt, Chris D. Bajdik, Sharlene Gill
DOI: 10.1002/ijc.24808

Pre- and postnatal findings in a boy with duplication of the bladder and intestine: Report and review
American Journal of Medical Genetics Part A
Majid Alfadhel, Denise Pugash, Ashley James Robinson, James J. Murphy, Christof Senger, Kourosh Afshar, Linlea Armstrong
DOI: 10.1002/ajmg.a.33091

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization.
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
DOI: 10.1186/1471-2164-10-526
PubMed: 19917086

The use of anterolateral bowing of the lower leg in the diagnostic criteria for neurofibromatosis type 1
Genetics in Medicine
David A Stevenson, David H Viskochil, Elizabeth K Schorry, Alvin H Crawford, Jacques D'Astous, Kathleen A Murray, J M Friedman, Linlea Armstrong, John C Carey
DOI: 10.1097/gim.0b013e3180986e05

Associations of osseous abnormalities in Neurofibromatosis 1.
Alwan S, Armstrong L, Joe H, Birch PH, Szudek J, Friedman JM
DOI: 10.1002/ajmg.a.31754
PubMed: 17506102

Report of a fourth individual with a lethal syndrome of choanal atresia, athelia, evidence of renal tubulopathy, and family history of neck cysts
American Journal of Medical Genetics Part A
Gabriella A. Horvath, Linlea Armstrong
DOI: 10.1002/ajmg.a.31734

Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1
BMC Genetics
Wai-Man Chan, Caroline Andrews, Laryssa Dragan, Douglas Fredrick, Linlea Armstrong, Christopher Lyons, Michael T Geraghty, David G Hunter, Ahmad Yazdani, Elias I Traboulsi, Jan WR Pott, Nicholas J Gutowski, Sian Ellard, Elizabeth Young, Frank Hanisch, Feray Koc, Bruce Schnall, Elizabeth C Engle
DOI: 10.1186/1471-2156-8-26

The Hunter–MacDonald syndrome with expanded phenotype including risk of meningioma: An update and review
American Journal of Medical Genetics Part A
Linlea Armstrong, Gail E. Graham, R. Neil Schimke, Debra L. Collins, Daniel J. Kirse, Fiona Costello, Holly H. Ardinger
DOI: 10.1002/ajmg.a.31998

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation.
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
DOI: 10.1086/507471
PubMed: 16909388

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease
Nature Genetics
Mark I Rees, Kirsten Harvey, Brian R Pearce, Seo-Kyung Chung, Ian C Duguid, Philip Thomas, Sarah Beatty, Gail E Graham, Linlea Armstrong, Rita Shiang, Kim J Abbott, Sameer M Zuberi, John B P Stephenson, Michael J Owen, Marina A J Tijssen, Arn M J M van den Maagdenberg, Trevor G Smart, Stéphane Supplisson, Robert J Harvey
DOI: 10.1038/ng1814

Further delineation of Kabuki syndrome in 48 well-defined new individuals.
Armstrong L, Abd El Moneim A, Aleck K, Aughton DJ, Baumann C, Braddock SR, Gillessen-Kaesbach G, Graham JM, 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
DOI: 10.1002/ajmg.a.30340
PubMed: 15690370

Unrelated patients with a rearrangement of chromosome 2 causing duplication of 2p23 and deletion of 2q37
American Journal of Medical Genetics Part A
Linlea Armstrong, Judith E. Allanson, David D. Weaver, Carole J. Bevan, Holly H. Hobart
DOI: 10.1002/ajmg.a.30502

The ACE D/D genotype is protective against the development of idiopathic deep vein thrombosis and pulmonary embolism
Thrombosis and Haemostasis
Philip S. Wells, Marc A. Rodger, Melissa A. Forgie, Nicole J. Langlois, Linlea Armstrong, Nancy L. Carson, James Jaffey
DOI: 10.1160/th03-03-0170

A boy with developmental delay, malformations, and evidence of a connective tissue disorder?possibly a new type of cutis laxa
American Journal of Medical Genetics
Linlea Armstrong, Carmencita Jimenez, Alasdair G.W. Hunter
DOI: 10.1002/ajmg.a.10175

Report of a new case of "genitopatellar" syndrome which challenges the importance of absent patellae as a defining feature.
Armstrong L, Clarke JT
DOI: 10.1136/jmg.39.12.933
PubMed: 12471209

De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotype
American Journal of Medical Genetics
Linlea Armstrong, Jean McGowan-Jordan, Kathleen Brierley, Judith E. Allanson
DOI: 10.1002/ajmg.a.10727

Reliability audit of a regional cardiac surgery registry.
Volk T, Hahn L, Hayden R, Abel J, Puterman ML, Tyers GF
DOI: 10.1016/s0022-5223(97)70003-5
PubMed: 9434684


Current Projects
Defining rare phenotypes, and finding genetic etiologies

Current Projects
Developing educational curriculum in medical genetics for use across various training programs