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
2022

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
2022

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
12/2021

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
08/2021

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
06/2021

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
2021

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
2021

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
2021

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
2020

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
2020

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
2020

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
2020

PTPRD copy number variants and Ewing's sarcoma: Strengthening the association and therapeutic implications
Cancer Genetics
Saskin, A. and Seath, K. and Tihy, F. and Lemyre, E. and Davis, J. and Halal, F. and Armstrong, L.
DOI: 10.1016/j.cancergen.2019.03.004
2019

Bye to burnout: intergenerational narratives break barriers
Medical Education
Yoo, J. and Matos, M. and Bota, M. and Schrewe, B. and Armstrong, L.
DOI: 10.1111/medu.13850
2019

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
2019

RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit—successes and challenges
European Journal of Pediatrics
Elliott, A.M. and du Souich, C. and Lehman, A. and Guella, I. and Evans, D.M. and Candido, T. and Tooman, L. and Armstrong, L. and Clarke, L. and Gibson, W. and Gill, H. and Lavoie, P.M. and Lewis, S. and McKinnon, M.L. and Nikkel, S.M. and Patel, M. and Solimano, A. and Synnes, A. and Ting, J. and van Allen, M. and Christilaw, J. and Farrer, M.J. and Friedman, J.M. and Osiovich, H.
DOI: 10.1007/s00431-019-03399-4
2019

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations
Neuron
Tripathy, R. and Leca, I. and van Dijk, T. and Weiss, J. and van Bon, B.W. and Sergaki, M.C. and Gstrein, T. and Breuss, M. and Tian, G. and Bahi-Buisson, N. and Paciorkowski, A.R. and Pagnamenta, A.T. and Wenninger-Weinzierl, A. and Martinez-Reza, M.F. and Landler, L. and Lise, S. and Taylor, J.C. and Terrone, G. and Vitiello, G. and Del Giudice, E. and Brunetti-Pierri, N. and D'Amico, A. and Reymond, A. and Voisin, N. and Bernstein, J.A. and Farrelly, E. and Kini, U. and Leonard, T.A. and Valence, S. and Burglen, L. and Armstrong, L. and Hiatt, S.M. and Cooper, G.M. and Aldinger, K.A. and Dobyns, W.B. and Mirzaa, G. and Pierson, T.M. and Baas, F. and Chelly, J. and Cowan, N.J. and Keays, D.A.
DOI: 10.1016/j.neuron.2018.10.044
2018

A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy—Expanding NDST1 syndrome
American Journal of Medical Genetics, Part A
Armstrong, L. and Tarailo-Graovac, M. and Sinclair, G. and Seath, K.I. and Wasserman, W.W. and Ross, C.J. and van Karnebeek, C.D.M.
DOI: 10.1002/ajmg.a.37621
2017

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome
American Journal of Human Genetics
Sleven, H. and Welsh, S.J. and Yu, J. and Churchill, M.E.A. and Wright, C.F. and Henderson, A. and Horvath, R. and Rankin, J. and Vogt, J. and Magee, A. and McConnell, V. and Green, A. and King, M.D. and Cox, H. and Armstrong, L. and Lehman, A. and Nelson, T.N. and Williams, J. and Clouston, P. and Hagman, J. and Németh, A.H.
DOI: 10.1016/j.ajhg.2016.11.020
2017

Case series: A kindred with eruptive vellus hair cysts and systemic features
Journal of Cutaneous Medicine and Surgery
Ponzo, M.G. and Van Allen, M.I. and Armstrong, L. and Martinka, M. and Dutz, J.P.
DOI: 10.1177/1203475417719044
2017

Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability
BMC Genomics
Zahir, F.R. and Mwenifumbo, J.C. and Chun, H.-J.E. and Lim, E.L. and Van Karnebeek, C.D.M. and Couse, M. and Mungall, K.L. and Lee, L. and Makela, N. and Armstrong, L. and Boerkoel, C.F. and Langlois, S.L. and McGillivray, B.M. and Jones, S.J.M. and Friedman, J.M. and Marra, M.A.
DOI: 10.1186/s12864-017-3671-0
2017

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
2016

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
Mallhi, K. and Dix, D.B. and Niederhoffer, K.Y. and Armstrong, L. and Rozmus, J.
DOI: 10.1111/petr.12764
2016

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
11/2015

GeneYenta: A phenotype-based rare disease case matching tool based on online dating algorithms for the acceleration of exome interpretation
Human Mutation
Gottlieb, M.M. and Arenillas, D.J. and Maithripala, S. and Maurer, Z.D. and Tarailo-Graovac, M. and Armstrong, L. and Patel, M. and van Karnebeek, C. and Wasserman, W.W.
DOI: 10.1002/humu.22772
2015

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
2015

AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset
Neurogenetics
Armstrong, L. and Biancheri, R. and Shyr, C. and Rossi, A. and Sinclair, G. and Ross, C.J. and Tarailo-Graovac, M. and Wasserman, W.W. and Van Karnebeek, C.D.M.
DOI: 10.1007/s10048-014-0411-3
2014

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas
Nature Genetics
Piotrowski, A. and Xie, J. and Liu, Y.F. and Poplawski, A.B. and Gomes, A.R. and Madanecki, P. and Fu, C. and Crowley, M.R. and Crossman, D.K. and Armstrong, L. and Babovic-Vuksanovic, D. and Bergner, A. and Blakeley, J.O. and Blumenthal, A.L. and Daniels, M.S. and Feit, H. and Gardner, K. and Hurst, S. and Kobelka, C. and Lee, C. and Nagy, R. and Rauen, K.A. and Slopis, J.M. and Suwannarat, P. and Westman, J.A. and Zanko, A. and Korf, B.R. and Messiaen, L.M.
DOI: 10.1038/ng.2855
2014

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
Schlade-Bartusiak, K. and Tucker, T. and Safavi, H. and Livingston, J. and van Allen, M.I. and Eydoux, P. and Armstrong, L.
DOI: 10.1016/j.ejmg.2013.01.013
2013

The generalized bone phenotype in children with neurofibromatosis 1: A sibling matched case-control study
American Journal of Medical Genetics, Part A
Armstrong, L. and Jett, K. and Birch, P. and Kendler, D.L. and Mckay, H. and Tsang, E. and Stevenson, D.A. and Hanley, D.A. and Egeli, D. and Burrows, M. and Friedman, J.M.
DOI: 10.1002/ajmg.a.36001
2013

Severe hypospadias and its association with maternal-placental factors
American Journal of Medical Genetics, Part A
Huisma, F. and Thomas, M. and Armstrong, L.
DOI: 10.1002/ajmg.a.36050
2013

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
2013

Cost-effectiveness of MRI for breast cancer screening in BRCA1/2 mutation carriers
BMC Cancer
Pataky, R. and Armstrong, L. and Chia, S. and Coldman, A.J. and Kim-Sing, C. and McGillivray, B. and Scott, J. and Wilson, C.M. and Peacock, S.
DOI: 10.1186/1471-2407-13-339
2013

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
2013

CCMG statement on gene patents
Clinical Genetics
Richer, J. and Nelson, T.N. and Evans, J. and Armstrong, L. and Lauzon, J. and McGillivray, B.
DOI: 10.1111/cge.12009
2012

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.
2012

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
Nature Genetics
Rivière, J.-B. and Mirzaa, G.M. and O'Roak, B.J. and Beddaoui, M. and Alcantara, D. and Conway, R.L. and St-Onge, J. and Schwartzentruber, J.A. and Gripp, K.W. and Nikkel, S.M. and Worthylake, T. and Sullivan, C.T. and Ward, T.R. and Butler, H.E. and Kramer, N.A. and Albrecht, B. and Armour, C.M. and Armstrong, L. and Caluseriu, O. and Cytrynbaum, C. and Drolet, B.A. and Innes, A.M. and Lauzon, J.L. and Lin, A.E. and Mancini, G.M.S. and Meschino, W.S. and Reggin, J.D. and Saggar, A.K. and Lerman-Sagie, T. and Uyanik, G.K. and Weksberg, R. and Zirn, B. and Beaulieu, C.L. and Majewski, J. and Bulman, D.E. and O'Driscoll, M. and Shendure, J. and Graham, J.M. and Boycott, K.M. and Dobyns, W.B.
DOI: 10.1038/ng.2331
2012

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
2011

Prevalence of dental caries in children with neurofibromatosis 1
Clinical Oral Investigations
Tsang, E.S. and Birch, P. and Friedman, J.M. and Johnston, D. and Tucker, T. and Armstrong, L.
DOI: 10.1007/s00784-009-0361-6
2010

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
2010

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
2010

Spine abnormalities in asymptomatic children with neurofibromatosis type 1 (NF1)
Bone
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
07/2009

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
2009

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
2009

Skeletal abnormalities in neurofibromatosis type 1: Approaches to therapeutic options
American Journal of Medical Genetics, Part A
Elefteriou, F. and Kolanczyk, M. and Schindeler, A. and Viskochil, D.H. and Hock, J.M. and Schorry, E.K. and Crawford, A.H. and Friedman, J.M. and Little, D. and Peltonen, J. and Carey, J.C. and Feldman, D. and Yu, X. and Armstrong, L. and Birch, P. and Kendler, D.L. and Mundlos, S. and Yang, F.-C. and Agiostratidou, G. and Hunter-Schaedle, K. and Stevenson, D.A.
DOI: 10.1002/ajmg.a.33045
2009

Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols
Prenatal Diagnosis
Langlois, S. and Armstrong, L. and Gall, K. and Hulait, G. and Livingston, J. and Nelson, T. and Power, P. and Pugash, D. and Siciliano, D. and Steinraths, M. and Mattman, A.
DOI: 10.1002/pd.2326
2009

A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction
Movement Disorders
Demos, M.K. and Macri, V. and Farrell, K. and Nelson, T.N. and Chapman, K. and Accili, E. and Armstrong, L.
DOI: 10.1002/mds.22467
2009

A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7
European Journal of Medical Genetics
Lehman, A.M. and Friedman, J.M. and Chai, D. and Zahir, F.R. and Marra, M.A. and Prisman, L. and Tsang, E. and Eydoux, P. and Armstrong, L.
DOI: 10.1016/j.ejmg.2009.09.006
2009

The identification of Lynch syndrome in British Columbia
Canadian Journal of Gastroenterology
Cremin, C.M. and Armstrong, L. and Gill, S. and Huntsman, D. and Bajdik, C.
DOI: 10.1155/2009/620518
2009

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
2008

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
2007

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
Horvath, G.A. and Armstrong, L.
DOI: 10.1002/ajmg.a.31734
2007

Associations of osseous abnormalities in neurofibromatosis
American Journal of Medical Genetics, Part A
Alwan, S. and Armstrong, L. and Joe, H. and Birch, P.H. and Szudek, J. and Friedman, J.M.
DOI: 10.1002/ajmg.a.31754
2007

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
2007

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
09/2006

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease
Nature Genetics
Rees, M.I. and Harvey, K. and Pearce, B.R. and Chung, S.-K. and Duguid, I.C. and Thomas, P. and Beatty, S. and Graham, G.E. and Armstrong, L. and Shiang, R. and Abbott, K.J. and Zuberi, S.M. and Stephenson, J.B.P. and Owen, M.J. and Tijssen, M.A.J. and Van Den Maagdenberg, A.M.J.M. and Smart, T.G. and Supplisson, S. and Harvey, R.J.
DOI: 10.1038/ng1814
2006

Further delineation of Kabuki syndrome in 48 well-defined new individuals
American Journal of Medical Genetics
DOI: 10.1002/ajmg.a.30340
2005

Unrelated patients with a rearrangement of chromosome 2 causing duplication of 2p23 and deletion of 2q37
American Journal of Medical Genetics
Armstrong, L. and Allanson, J.E. and Weaver, D.D. and Bevan, C.J. and Hobart, H.H.
DOI: 10.1002/ajmg.a.30502
2005

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
09/2003

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
04/2003

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
12/2002

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
2002

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
12/1997