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.


The practice of genomic medicine: A delineation of the process and its governing principles
Frontiers in Medicine
Handra, J. and Elbert, A. and Gazzaz, N. and Moller-Hansen, A. and Hyunh, S. and Lee, H.K. and Boerkoel, P. and Alderman, E. and Anderson, E. and Clarke, L. and Hamilton, S. and Hamman, R. and Hughes, S. and Ip, S. and Langlois, S. and Lee, M. and Li, L. and Mackenzie, F. and Patel, M.S. and Prentice, L.M. and Sangha, K. and Sato, L. and Seath, K. and Seppelt, M. and Swenerton, A. and Warnock, L. and Zambonin, J.L. and Boerkoel, C.F. and Chin, H.-L. and Armstrong, L.
DOI: 10.3389/fmed.2022.1071348

Impact of Variation in Practice in the Prenatal Reporting of Variants of Uncertain Significance by Commercial Laboratories: Need for Greater Adherence to Published Guidelines
Obstetrical and Gynecological Survey
DOI: 10.1097/01.ogx.0000935836.78364.35

Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay
Journal of Medical Genetics
DOI: 10.1136/jmg-2022-109127

Characterization of Switch/Sucrose Nonfermenting Complex Proteins and Nestin Expression in a Cohort of Pediatric Central Nervous System Tumors
Applied Immunohistochemistry and Molecular Morphology
DOI: 10.1097/PAI.0000000000001122

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms
American Journal of Medical Genetics, Part A
DOI: 10.1002/ajmg.a.63247

Performance of the eHealth decision support tool, MIPOGG, for recognising children with Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin syndromes
Journal of Medical Genetics
DOI: 10.1136/jmg-2023-109376

Expanding the genotype-phenotype spectrum in SCN8A-related disorders
Research Square
DOI: 10.21203/rs.3.rs-3221902

A germline heterozygous dominant negative IKZF2 variant causing syndromic primary immune regulatory disorder and ICHAD
DOI: 10.1101/2023.09.09.23295301

The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice
Genetics in Medicine
Chin, H.-L. and Gazzaz, N. and Huynh, S. and Handra, I. and Warnock, L. and Moller-Hansen, A. and Boerkoel, P. and Jacobsen, J.O.B. and du Souich, C. and Zhang, N. and Shefchek, K. and Prentice, L.M. and Washington, N. and Haendel, M. and Armstrong, L. and Clarke, L. and Li, W.L. and Smedley, D. and Robinson, P.N. and Boerkoel, C.F.
DOI: 10.1016/j.gim.2022.03.013

Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines
Prenatal Diagnosis
Cornthwaite, M. and Turner, K. and Armstrong, L. and Boerkoel, C.F. and Chang, C. and Lehman, A. and Nikkel, S.M. and Patel, M.S. and Van Allen, M. and Langlois, S.
DOI: 10.1002/pd.6232

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study
Human Genetics and Genomics Advances
Elliott, A.M. and Adam, S. and du Souich, C. and Lehman, A. and Nelson, T.N. and van Karnebeek, C. and Alderman, E. and Armstrong, L. and Aubertin, G. and Blood, K. and Boelman, C. and Boerkoel, C. and Bretherick, K. and Brown, L. and Chijiwa, C. and Clarke, L. and Couse, M. and Creighton, S. and Watts-Dickens, A. and Gibson, W.T. and Gill, H. and Tarailo-Graovac, M. and Hamilton, S. and Heran, H. and Horvath, G. and Huang, L. and Hulait, G.K. and Koehn, D. and Lee, H.K. and Lewis, S. and Lopez, E. and Louie, K. and Niederhoffer, K. and Matthews, A. and Meagher, K. and Peng, J.J. and Patel, M.S. and Race, S. and Richmond, P. and Rupps, R. and Salvarinova, R. and Seath, K. and Selby, K. and Steinraths, M. and Stockler, S. and Tang, K. and Tyson, C. and van Allen, M. and Wasserman, W. and Mwenifumbo, J. and Friedman, J.M.
DOI: 10.1016/j.xhgg.2022.100108

Primary cutaneous follicle center lymphoma of the medial canthus of the eye in an 11-year old
Pediatric Blood and Cancer
D'Alessandro, P.R. and Lo, A.C. and Spencer, M.H. and Farinha, P. and Armstrong, L. and Dolman, P.J. and Cheng, S.
DOI: 10.1002/pbc.29630

Somatic mosaicism detected by genome-wide sequencing in 500 parent–child trios with suspected genetic disease: clinical and genetic counseling implications
Molecular Case Studies
Courtney B. Cook and Linlea Armstrong and Cornelius F. Boerkoel and Lorne A. Clarke and Christèle du Souich and Michelle K. Demos and William T. Gibson and Harinder Gill and Elena Lopez and Millan S. Patel and Kathryn Selby and Ziad Abu-Sharar and Alison M. Elliott and Jan M. Friedman
DOI: 10.1101/mcs.a006125

Coaching the coaches: Employing role modeling and coaching as a faculty development strategy
Medical Teacher
Ingrid Price and Maria Hubinette and Linlea Armstrong and Heather Buckley
DOI: 10.1080/0142159X.2021.1929908

Crizotinib response in a neuroblastoma patient with a constitutional mosaic anaplastic lymphoma kinase I1170N-activating mutation
Pediatric Blood & Cancer
Melissa Harvey and Meredith S. Irwin and Linlea Armstrong and Kim Seath and Sean Young and Sharon Gershony and Rebecca J. Deyell
DOI: 10.1002/pbc.28916

Performance of the McGill Interactive Pediatric OncoGenetic Guidelines for Identifying Cancer Predisposition Syndromes
JAMA Oncology
Goudie, C. and Witkowski, L. and Cullinan, N. and Reichman, L. and Schiller, I. and Tachdjian, M. and Armstrong, L. and Blood, K.A. and Brossard, J. and Brunga, L. and Cacciotti, C. and Caswell, K. and Cellot, S. and Clark, M.E. and Clinton, C. and Coltin, H. and Felton, K. and Fernandez, C.V. and Fleming, A.J. and Fuentes-Bolanos, N. and Gibson, P. and Grant, R. and Hammad, R. and Harrison, L.W. and Irwin, M.S. and Johnston, D.L. and Kane, S. and Lafay-Cousin, L. and Lara-Corrales, I. and Larouche, V. and Mathews, N. and Meyn, M.S. and Michaeli, O. and Perrier, R. and Pike, M. and Punnett, A. and Ramaswamy, V. and Say, J. and Somers, G. and Tabori, U. and Thibodeau, M.L. and Toupin, A.-K. and Tucker, K.M. and Van Engelen, K. and Vairy, S. and Waespe, N. and Warby, M. and Wasserman, J.D. and Whitlock, J.A. and Sinnett, D. and Jabado, N. and Nathan, P.C. and Shlien, A. and Kamihara, J. and Deyell, R.J. and Ziegler, D.S. and Nichols, K.E. and Dendukuri, N. and Malkin, D. and Villani, A. and Foulkes, W.D.
DOI: 10.1001/jamaoncol.2021.4536

Ulcerated amelanotic melanoma of the ear in an 11 year old with Fitzpatrick VI skin type: A case report
Pediatric Dermatology
Roberts, M. and Moxham, J.P. and Gregory, A. and Armstrong, L. and Terry, J. and Courtemanche, D. and Harvey, M. and Rehmus, W.
DOI: 10.1111/pde.14732

Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation
American Journal of Human Genetics
Polla, D.L. and Edmondson, A.C. and Duvet, S. and March, M.E. and Sousa, A.B. and Lehman, A. and Niyazov, D. and van Dijk, F. and Demirdas, S. and van Slegtenhorst, M.A. and Kievit, A.J.A. and Schulz, C. and Armstrong, L. and Bi, X. and Rader, D.J. and Izumi, K. and Zackai, E.H. and de Franco, E. and Jorge, P. and Huffels, S.C. and Hommersom, M. and Ellard, S. and Lefeber, D.J. and Santani, A. and Hand, N.J. and van Bokhoven, H. and He, M. and de Brouwer, A.P.M.
DOI: 10.1016/j.ajhg.2021.05.010

Establishing a framework for the clinical translation of germline findings in precision oncology
JNCI Cancer Spectrum
Dixon, K. and Young, S. and Shen, Y. and Thibodeau, M.L. and Fok, A. and Pleasance, E. and Zhao, E. and Jones, M. and Aubert, G. and Armstrong, L. and Virani, A. and Regier, D. and Gelmon, K. and Renouf, D. and Chia, S. and Bosdet, I. and Rassekh, S.R. and Deyell, R.J. and Yip, S. and Fisic, A. and Titmuss, E. and Abadi, S. and Jones, S.J.M. and Sun, S. and Karsan, A. and Marra, M. and Laskin, J. and Lim, H. and Schrader, K.A.
DOI: 10.1093/JNCICS/PKAA045

Loss of BRG1 (SMARCA4) Immunoexpression in a Pediatric Non-Central Nervous System Tumor Cohort
Pediatric and Developmental Pathology
Saunders, J. and Ingley, K. and Wang, X.Q. and Harvey, M. and Armstrong, L. and Ng, T. and Dunham, C. and Bush, J.
DOI: 10.1177/1093526619869154

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
Human Mutation
Koczkowska, M. and Callens, T. and Chen, Y. and Gomes, A. and Hicks, A.D. and Sharp, A. and Johns, E. and Uhas, K.A. and Armstrong, L. and Bosanko, K.A. and Babovic-Vuksanovic, D. and Baker, L. and Basel, D.G. and Bengala, M. and Bennett, J.T. and Chambers, C. and Clarkson, L.K. and Clementi, M. and Cortés, F.M. and Cunningham, M. and D'Agostino, M.D. and Delatycki, M.B. and Digilio, M.C. and Dosa, L. and Esposito, S. and Fox, S. and Freckmann, M.-L. and Fauth, C. and Giugliano, T. and Giustini, S. and Goetsch, A. and Goldberg, Y. and Greenwood, R.S. and Griffis, C. and Gripp, K.W. and Gupta, P. and Haan, E. and Hachen, R.K. and Haygarth, T.L. and Hernández-Chico, C. and Hodge, K. and Hopkin, R.J. and Hudgins, L. and Janssens, S. and Keller, K. and Kelly-Mancuso, G. and Kochhar, A. and Korf, B.R. and Lewis, A.M. and Liebelt, J. and Lichty, A. and Listernick, R.H. and Lyons, M.J. and Maystadt, I. and Martinez Ojeda, M. and McDougall, C. and McGregor, L.K. and Melis, D. and Mendelsohn, N. and Nowaczyk, M.J.M. and Ortenberg, J. and Panzer, K. and Pappas, J.G. and Pierpont, M.E. and Piluso, G. and Pinna, V. and Pivnick, E.K. and Pond, D.A. and Powell, C.M. and Rogers, C. and Ruhrman Shahar, N. and Rutledge, S.L. and Saletti, V. and Sandaradura, S.A. and Santoro, C. and Schatz, U.A. and Schreiber, A. and Scott, D.A. and Sellars, E.A. and Sheffer, R. and Siqveland, E. and Slopis, J.M. and Smith, R. and Spalice, A. and Stockton, D.W. and Streff, H. and Theos, A. and Tomlinson, G.E. and Tran, G. and Trapane, P.L. and Trevisson, E. and Ullrich, N.J. and Van den Ende, J. and Schrier Vergano, S.A. and Wallace, S.E. and Wangler, M.F. and Weaver, D.D. and Yohay, K.H. and Zackai, E. and Zonana, J. and Zurcher, V. and Claes, K.B.M. and Eoli, M. and Martin, Y. and Wimmer, K. and De Luca, A. and Legius, E. and Messiaen, L.M.
DOI: 10.1002/humu.23929

The Orthopaedic Management of Human Disorganization Syndrome
Journal of the American Academy of Orthopaedic Surgeons Global Research and Reviews
Smit, K. and So, J. and Schaeffer, E. and Armstrong, L. and Verchere, C. and Mulpuri, K.
DOI: 10.5435/JAAOSGlobal-D-20-00059

RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit—successes and challenges
European Journal of Pediatrics
Alison M. Elliott and Christèle du Souich and Anna Lehman and Ilaria Guella and Daniel M. Evans and Tara Candido and Leah Tooman and Linlea Armstrong and Lorne Clarke and William Gibson and Harinder Gill and Pascal M. Lavoie and Suzanne Lewis and Margaret L. McKinnon and Sarah M. Nikkel and Millan Patel and Alfonso Solimano and Anne Synnes and Joseph Ting and Margot van Allen and Jan Christilaw and Matthew J. Farrer and Jan M. Friedman and Horacio Osiovich
DOI: 10.1007/s00431-019-03399-4

PTPRD copy number variants and Ewing's sarcoma: Strengthening the association and therapeutic implications
Cancer Genetics
Avi Saskin and Kimberly Seath and Frederique Tihy and Emmanuelle Lemyre and Jeffrey Davis and Fahed Halal and Linlea Armstrong
DOI: 10.1016/j.cancergen.2019.03.004

Bye to burnout: intergenerational narratives break barriers
Medical Education
Jaeyun Yoo and Meghan Matos and Melissa Bota and Brett Schrewe and Linlea Armstrong
DOI: 10.1111/medu.13850

Perioperative Hypotensive Crisis in an Adolescent with a Pancreatic VIPoma and MEN1-Gene Variant
Hormone Research in Paediatrics
Acosta-Gualandri, A. and Kao, K.-T. and Wong, T. and Webber, E. and Armstrong, L. and Panagiotopoulos, C.
DOI: 10.1159/000493396

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations
Ratna Tripathy and Ines Leca and Tessa van Dijk and Janneke Weiss and Bregje W. van Bon and Maria Christina Sergaki and Thomas Gstrein and Martin Breuss and Guoling Tian and Nadia Bahi-Buisson and Alexander R. Paciorkowski and Alistair T. Pagnamenta and Andrea Wenninger-Weinzierl and Maria Fernanda Martinez-Reza and Lukas Landler and Stefano Lise and Jenny C. Taylor and Gaetano Terrone and Giuseppina Vitiello and Ennio Del Giudice and Nicola Brunetti-Pierri and Alessandra D’Amico and Alexandre Reymond and Norine Voisin and Jonathan A. Bernstein and Ellyn Farrelly and Usha Kini and Thomas A. Leonard and Stéphanie Valence and Lydie Burglen and Linlea Armstrong and Susan M. Hiatt and Gregory M. Cooper and Kimberly A. Aldinger and William B. Dobyns and Ghayda Mirzaa and Tyler Mark Pierson and Frank Baas and Jamel Chelly and Nicholas J. Cowan and David Anthony Keays
DOI: 10.1016/j.neuron.2018.10.044

Case Series: A Kindred With Eruptive Vellus Hair Cysts and Systemic Features
Journal of Cutaneous Medicine and Surgery
Marisa G. Ponzo and Margot I. Van Allen and Linlea Armstrong and Magdalena Martinka and 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 and Jill C. Mwenifumbo and Hye-Jung E. Chun and Emilia L. Lim and Clara D. M. Van Karnebeek and Madeline Couse and Karen L. Mungall and Leora Lee and Nancy Makela and Linlea Armstrong and Cornelius F. Boerkoel and Sylvie L. Langlois and Barbara M. McGillivray and Steven J. M. Jones and Jan M. Friedman and 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 and Maja Tarailo-Graovac and Graham Sinclair and Kimberly I. Seath and Wyeth W. Wasserman and Colin J. Ross and 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 and Seth J. Welsh and Jing Yu and Mair E.A. Churchill and Caroline F. Wright and Alex Henderson and Rita Horvath and Julia Rankin and Julie Vogt and Alex Magee and Vivienne McConnell and Andrew Green and Mary D. King and Helen Cox and Linlea Armstrong and Anna Lehman and Tanya N. Nelson and Jonathan Williams and Penny Clouston and James Hagman and 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 and David B. Dix and Karen Y. Niederhoffer and Linlea Armstrong and Jacob Rozmus
DOI: 10.1111/petr.12764

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

Exome sequencing and the management of neurometabolic disorders
New England Journal of Medicine
Tarailo-Graovac, M. and Shyr, C. and Ross, C.J. and Horvath, G.A. and Salvarinova, R. and Ye, X.C. and Zhang, L.-H. and Bhavsar, A.P. and Lee, J.J.Y. and Drögemöller, B.I. and Abdelsayed, M. and Alfadhel, M. and Armstrong, L. and Baumgartner, M.R. and Burda, P. and Connolly, M.B. and Cameron, J. and Demos, M. and Dewan, T. and Dionne, J. and Evans, A.M. and Friedman, J.M. and Garber, I. and Lewis, S. and Ling, J. and Mandal, R. and Mattman, A. and McKinnon, M. and Michoulas, A. and Metzger, D. and Ogunbayo, O.A. and Rakic, B. and Rozmus, J. and Ruben, P. and Sayson, B. and Santra, S. and Schultz, K.R. and Selby, K. and Shekel, P. and Sirrs, S. and Skrypnyk, C. and Superti-Furga, A. and Turvey, S.E. and Van Allen, M.I. and Wishart, D. and Wu, J. and Wu, J. and Zafeiriou, D. and Kluijtmans, L. and Wevers, R.A. and Eydoux, P. and Lehman, A.M. and Vallance, H. and Stockler-Ipsiroglu, S. and Sinclair, G. and Wasserman, W.W. and Van Karnebeek, C.D.
DOI: 10.1056/NEJMoa1515792

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 and David Dix and Wingfield Rehmus and Barbara McGillivray and 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 Interpretation
Human Mutation
Michael M. Gottlieb and David J. Arenillas and Savanie Maithripala and Zachary D. Maurer and Maja Tarailo­Graovac and Linlea Armstrong and Millan Patel and Clara van Karnebeek and Wyeth W. Wasserman
DOI: 10.1002/humu.22772

Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes
American Journal of Medical Genetics, Part A
Giampietro, P.F. and Armstrong, L. and Stoddard, A. and Blank, R.D. and Livingston, J. and Raggio, C.L. and Rasmussen, K. and Pickart, M. and Lorier, R. and Turner, A. and Sund, S. and Sobrera, N. and Neptune, E. and Sweetser, D. and Santiago-Cornier, A. and Broeckel, U.
DOI: 10.1002/ajmg.a.36799

AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset.
Armstrong L and Biancheri R and Shyr C and Rossi A and Sinclair G and Ross CJ and Tarailo-Graovac M and Wasserman WW and 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 and Xie J and Liu YF and Poplawski AB and Gomes AR and Madanecki P and Fu C and Crowley MR and Crossman DK and Armstrong L and Babovic-Vuksanovic D and Bergner A and Blakeley JO and Blumenthal AL and Daniels MS and Feit H and Gardner K and Hurst S and Kobelka C and 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 and Marion Thomas and 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 and Linlea Armstrong and Stephen Chia and Andrew J Coldman and Charmaine Kim-Sing and Barbara McGillivray and Jenna Scott and Christine M Wilson and Stuart Peacock
DOI: 10.1186/1471-2407-13-339

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 and Tracy Tucker and Holly Safavi and Janet Livingston and Margot I. van Allen and Patrice Eydoux and Linlea Armstrong
DOI: 10.1016/j.ejmg.2013.01.013

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

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

The c.7409G>A (p.Cys2470Tyr) variant of FBN1: Phenotypic variability across three generations
Molecular Syndromology
Potter, K.J. and Creighton, S. and Armstrong, L. and Eydoux, P. and Duncan, W. and Penny, D.J. and Fan, Y. and Gibson, W.T.
DOI: 10.1159/000347163

Approaches to treating NF1 tibial pseudarthrosis: Consensus from the children's tumor foundation NF1 bone abnormalities consortium
Journal of Pediatric Orthopaedics
Stevenson, D.A. and Little, D. and Armstrong, L. and Crawford, A.H. and Eastwood, D. and Friedman, J.M. and Greggi, T. and Gutierrez, G. and Hunter-Schaedle, K. and Kendler, D.L. and Kolanczyk, M. and Monsell, F. and Oetgen, M. and Richards, B.S. and Schindeler, A. and Schorry, E.K. and Wilkes, D. and Viskochil, D.H. and Yang, F.-C. and Elefteriou, F.
DOI: 10.1097/BPO.0b013e31828121b8

CCMG statement on gene patents.
Richer J and Nelson TN and Evans J and Armstrong L and Lauzon J and 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 and Mirzaa GM and O'Roak BJ and Beddaoui M and Alcantara D and Conway RL and St-Onge J and Schwartzentruber JA and Gripp KW and Nikkel SM and Worthylake T and Sullivan CT and Ward TR and Butler HE and Kramer NA and Albrecht B and Armour CM and Armstrong L and Caluseriu O and Cytrynbaum C
DOI: 10.1038/ng.2331
PubMed: 22729224

CCMG statement on direct-to-consumer genetic testing.
Clinical genetics
CCMG Ethics and Public Policy Committee and Nelson, T.N. and Armstrong, L. and Richer, J. and Evans, J. and Lauzon, J. and McGillivray, B. and Bruyere, H. and Dougan, S.

Cerebrovasculopathy in NF1 associated with ocular and scalp defects
American Journal of Medical Genetics, Part A
Smith, M. and Heran, M.K. and Connolly, M.B. and Heran, H.K. and Friedman, J.M. and Jett, K. and Lyons, C.J. and Steinbok, P. and Armstrong, L.
DOI: 10.1002/ajmg.a.33788

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

Validation of predictive models for germline mutations in DNA mismatch repair genes in colorectal cancer
International Journal of Cancer
Monzon, J.G. and Cremin, C. and Armstrong, L. and Nuk, J. and Young, S. and Horsman, D.E. and Garbutt, K. and Bajdik, C.D. and Gill, S.
DOI: 10.1002/ijc.24808

Lynch syndrome-chasing a better ascertainment rate in British Columbia
Hereditary Cancer in Clinical Practice
Carol Cremin and Morteza Bashash and Linlea Armstrong and Sharlene Gill and David Huntsman and 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 and Jan M. Friedman and David Chai and Farah R. Zahir and Marco A. Marra and Larraine Prisman and Erica Tsang and Patrice Eydoux and Linlea Armstrong
DOI: 10.1016/j.ejmg.2009.09.006

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

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

Spine abnormalities in asymptomatic children with neurofibromatosis type 1 (NF1)
D. Viskochil and L. Armstrong and J. Eelloo and H. Hanson and S. Huson and Z. Mughal and K. Murray and E. Schorry and D. Stevenson
DOI: 10.1016/j.bone.2009.04.193

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

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

Pre- and postnatal findings in a boy with duplication of the bladder and intestine: Report and review
American Journal of Medical Genetics, Part A
Alfadhel, M. and Pugash, D. and Robinson, A.J. and Murphy, J.J. and Senger, C. and Afshar, K. and Armstrong, L.
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
BMC Genomics
Friedman, J.M. and Adam, S. and Arbour, L. and Armstrong, L. and Baross, A. and Birch, P. and Boerkoel, C. and Chan, S. and Chai, D. and Delaney, A.D. and Flibotte, S. and Gibson, W.T. and Langlois, S. and Lemyre, E. and Li, H.I. and MacLeod, P. and Mathers, J. and Michaud, J.L. and McGillivray, B.C. and Patel, M.S. and Qian, H. and Rouleau, G.A. and Van Allen, M.I. and Yong, S. and Zahir, F.R. and Eydoux, P. and Marra, M.A.
DOI: 10.1186/1471-2164-10-526

The Hunter-MacDonald syndrome with expanded phenotype including risk of meningioma: An update and review
American Journal of Medical Genetics, Part A
Armstrong, L. and Graham, G.E. and Schimke, R.N. and Collins, D.L. and Kirse, D.J. and Costello, F. and Ardinger, H.H.
DOI: 10.1002/ajmg.a.31998

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

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 and Linlea Armstrong
DOI: 10.1002/ajmg.a.31734

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

Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1
BMC Genetics
Chan, W.-M. and Andrews, C. and Dragan, L. and Fredrick, D. and Armstrong, L. and Lyons, C. and Geraghty, M.T. and Hunter, D.G. and Yazdani, A. and Traboulsi, E.I. and Pott, J.W.R. and Gutowski, N.J. and Ellard, S. and Young, E. and Hanisch, F. and Koc, F. and Schnall, B. and Engle, E.C.
DOI: 10.1186/1471-2156-8-26

The use of anterolateral bowing of the lower leg in the diagnostic criteria for neurofibromatosis type 1
Genetics in Medicine
Stevenson, D.A. and Viskochil, D.H. and Schorry, E.K. and Crawford, A.H. and D'Astous, J. and Murray, K.A. and Friedman, J.M. and Armstrong, L. and Carey, J.C.
DOI: 10.1097/GIM.0b013e3180986e05

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation.
Friedman JM and Baross A and Delaney AD and Ally A and Arbour L and Armstrong L and Asano J and Bailey DK and Barber S and Birch P and Brown-John M and Cao M and Chan S and Charest DL and Farnoud N and Fernandes N and Flibotte S and Go A and Gibson WT and 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 and Kirsten Harvey and Brian R Pearce and Seo-Kyung Chung and Ian C Duguid and Philip Thomas and Sarah Beatty and Gail E Graham and Linlea Armstrong and Rita Shiang and Kim J Abbott and Sameer M Zuberi and John B P Stephenson and Michael J Owen and Marina A J Tijssen and Arn M J M van den Maagdenberg and Trevor G Smart and Stéphane Supplisson and Robert J Harvey
DOI: 10.1038/ng1814

Further delineation of Kabuki syndrome in 48 well-defined new individuals.
Armstrong L and Abd El Moneim A and Aleck K and Aughton DJ and Baumann C and Braddock SR and Gillessen-Kaesbach G and Graham JM and Grebe TA and Gripp KW and Hall BD and Hennekam R and Hunter A and Keppler-Noreuil K and Lacombe D and Lin AE and Ming JE and Kokitsu-Nakata NM and Nikkel SM and 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 and Judith E. Allanson and David D. Weaver and Carole J. Bevan and 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 and Marc A. Rodger and Melissa A. Forgie and Nicole J. Langlois and Linlea Armstrong and Nancy L. Carson and 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 and Carmencita Jimenez and 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 and 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 and Jean McGowan-Jordan and Kathleen Brierley and Judith E. Allanson
DOI: 10.1002/ajmg.a.10727

Reliability audit of a regional cardiac surgery registry.
Volk T and Hahn L and Hayden R and Abel J and Puterman ML and 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

Research Group Members

Kristal Louie, Genetic Counsellor