Tanya Nelson

Mainstreaming of clinical genetic testing: A conceptual framework

Genetics in Medicine

Mackley, M.P. and Richer, J. and Guerin, A. and Caluseriu, O. and Armstrong, L. and Blood, K.A. and Bernier, F. and Boswell-Patterson, C. and Chard, M. and Costain, G. and Dyment, D. and Eaton, A. and Faghfoury, H. and Frosk, P. and Gillespie, M.K. and Goh, E.S. and Hayeems, R.Z. and Hashemi, B. and Innes, A.M. and Jackson, M. and Laberge, A.-M. and Limoges, J. and Marshall, C. and McMillan, H. and Nelson, T.N. and Osmond, M. and Parboosingh, J. and Penney, L. and Prince, B. and Sawyer, S.L. and Siu, V.M. and Thomas, M.A. and Turner, L. and Villeneuve-Cloutier, N. and Hartley, T. and Boycott, K.M.

DOI: 10.1016/j.gim.2025.101465

Reproductive carrier screening for genetic disorders: Position statement of the Canadian College of Medical Geneticists

Journal of Medical Genetics

Aul, R.B. and Canales, K.E. and De Bie, I. and Laberge, A.-M. and Langlois, S. and Nelson, T.N. and Walji, S. and Yu, A.C. and Lazier, J.

DOI: 10.1136/jmg-2025-110871

A Study on the Incidence and Prevalence of 5q Spinal Muscular Atrophy in Canada Using Multiple Data Sources,tude sur lincidence et la prvalence de lamyotrophie spinale lie au chromosome 5q [AS 5q] au Canada, fonde sur diffrentes sources de donnes

Canadian Journal of Neurological Sciences

Price, T.R. and Hodgkinson, V. and Westbury, G. and Korngut, L. and Innes, M.A. and Marshall, C.R. and Nelson, T.N. and Huang, L. and Parboosingh, J. and Mah, J.K.

DOI: 10.1017/cjn.2024.1

Canadian College of Medical Geneticists: Clinical practice advisory document-Responsibility to recontact for reinterpretation of clinical genetic testing

Journal of Medical Genetics

Goh, E.S.-Y. and Chad, L. and Richer, J. and Bombard, Y. and Mighton, C. and Agatep, R. and Lacaria, M. and Penny, B. and Thomas, M.A. and Zawati, M.H. and Macfarlane, J. and Laberge, A.-M. and Nelson, T.N.

DOI: 10.1136/jmg-2024-110330

Genetic and metabolic investigations for neurodevelopmental disorders: Position statement of the Canadian College of Medical Geneticists (CCMG)

Journal of Medical Genetics

Carter, M.T. and Srour, M. and Au, P.-Y.B. and Buhas, D. and Dyack, S. and Eaton, A. and Inbar-Feigenberg, M. and Howley, H. and Kawamura, A. and Lewis, S.M.E. and McCready, E. and Nelson, T.N. and Vallance, H.

DOI: 10.1136/jmg-2022-108962

Next generation of free? Points to consider when navigating sponsored genetic testing

Journal of Medical Genetics

Bartels, K. and Afonso, S. and Brown, L. and Carriles, C. and Kim, R. and Lazier, J. and Mercimek-Andrews, S. and Nelson, T.N. and Stedman, I. and Thain, E. and Vanneste, R. and Chad, L.

DOI: 10.1136/jmg-2023-109571

Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists

Journal of medical genetics

Lazier, J. and Hartley, T. and Brock, J.-A. and Caluseriu, O. and Chitayat, D. and Laberge, A.-M. and Langlois, S. and Lauzon, J. and Nelson, T.N. and Parboosingh, J. and Stavropoulos, D.J. and Boycott, K. and Armour, C.M.

DOI: 10.1136/jmedgenet-2021-107897

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

Correction to: Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions (Genome Medicine, (2021), 13, 1, (126), 10.1186/s13073-021-00932-9)

Genome Medicine

Rajan-Babu, I.-S. and Peng, J.J. and Chiu, R. and Birch, P. and Couse, M. and Guimond, C. and Lehman, A. and Mwenifumbo, J. and van Karnebeek, C. and Friedman, J. and Adam, S. and Du Souich, C. and Elliott, A. and Lehman, A. and Mwenifumbo, J. and Nelson, T. and van Karnebeek, C. and Rajan-Babu and Friedman, J. and Li, C. and Mohajeri, A. and Dolzhenko, E. and Eberle, M.A. and Birol, I. and Friedman, J.M.

DOI: 10.1186/s13073-021-00961-4

Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions

Genome Medicine

Rajan-Babu, I.-S. and Peng, J.J. and Chiu, R. and Adam, S. and Souich, C.D. and Elliott, A. and Lehman, A. and Mwenifumbo, J. and Nelson, T. and van Karnebeek, C. and Friedman, J. and Birch, P. and Couse, M. and Guimond, C. and Mwenifumbo, J. and van Karnebeek, C. and Friedman, J. and Li, C. and Mohajeri, A. and Dolzhenko, E. and Eberle, M.A. and Birol, I. and Friedman, J.M.

DOI: 10.1186/s13073-021-00932-9

After genomic testing results: Parents long-term views

Journal of Genetic Counseling

Liang, N.S.Y. and Adam, S. and Elliott, A.M. and Siemens, A. and du Souich, C. and Friedman, J.M. and Birch, P. and Dragojlovic, N. and Lehman, A. and Lynd, L. and Mwenifumbo, J. and Nelson, T.N. and van Karnebeek, C. and Austin, J. and Knoppers, B. and Dey, A. and Bansback, N. and Clarke, L. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Zawati, M.

DOI: 10.1002/jgc4.1454

Targeted treatment of immune thrombocytopenia in CTLA-4 insufficiency: a case report

British Journal of Haematology

Lai, C.M.B. and Setiadi, A. and Barlas, A. and Kanani, A. and Pourshahnazari, P. and Leitch, H.A. and Metzger, D.L. and Merkeley, H. and Biggs, C.M. and Adam, S. and Du Souich, C. and Elliott, A. and Lehman, A. and Mwenifumbo, J. and Nelson, T. and Van Karnebeek, C. and Friedman, J.

DOI: 10.1111/bjh.17866

Integration of genetic counsellors in genomic testing triage: Outcomes of a Genomic Consultation Service in British Columbia, Canada

European Journal of Medical Genetics

Cook, C.B. and Dragojlovic, N. and Siemens, A. and Adam, S. and du Souich, C. and van Karnebeek, C. and Lehman, A. and Nelson, T.N. and Friedman, J. and Lynd, L.D. and Elliott, A.M.

DOI: 10.1016/j.ejmg.2020.104024

NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy

European Journal of Human Genetics

McTiernan, N. and Gill, H. and Prada, C.E. and Pachajoa, H. and Lores, J. and Arnesen, T. and Adam, S. and Du Souich, C. and Elliott, A. and Lehman, A. and Mwenifumbo, J. and Nelson, T. and Van Karnebeek, C. and Friedman, J.

DOI: 10.1038/s41431-020-00728-2

Is the diagnostic rate for the common subtypes of A1AT deficiency consistent across two Canadian Provinces?

Clinical Biochemistry

Estey, M.P. and Tahooni, T. and Nelson, T.N. and Parker, M.L. and Agbor, T.A. and Yang, H.-M. and Jen, R. and Barakauskas, V.E. and Lam, G.Y. and Matthews, A. and Mattman, A.

DOI: 10.1016/j.clinbiochem.2021.05.002

Performance of a three-tier (IRT-DNA-IRT) cystic fibrosis screening algorithm in British Columbia

International Journal of Neonatal Screening

Sinclair, G. and McMahon, V. and Schellenberg, A. and Nelson, T.N. and Chilvers, M. and Vallance, H.

DOI: 10.3390/ijns6020046

The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders

Genetics in Medicine

Dragojlovic, N. and van Karnebeek, C.D.M. and Ghani, A. and Genereaux, D. and Kim, E. and Birch, P. and Adam, S. and du Souich, C. and Elliott, A.M. and Lehman, A. and Lynd, L. and Mwenifumbo, J. and Nelson, T.N. and van Karnebeek, C. and Friedman, J.M. and Lynd, L.D. and Lynd, L.D.

DOI: 10.1038/s41436-019-0635-6

Alpha-1-antitrypsin molecular testing in Canada: A seven year, multi-centre comparison

Clinical Biochemistry

Mattman, A. and Gilfix, B.M. and Chen, S.X. and DeMarco, M.L. and Kyle, B.D. and Parker, M.L. and Agbor, T.A. and Jung, B. and Selvarajah, S. and Barakauskas, V.E. and Vaags, A.K. and Estey, M.P. and Nelson, T.N. and Speevak, M.D.

DOI: 10.1016/j.clinbiochem.2020.05.001

Renpenning syndrome in a female

American Journal of Medical Genetics, Part A

Cho, R.Y. and Peaherrera, M.S. and Du Souich, C. and Huang, L. and Mwenifumbo, J. and Nelson, T.N. and Elliott, A.M. and Adam, S. and Eydoux, P. and Yang, G.X. and Chijiwa, C. and Van Allen, M.I. and Friedman, J.M. and Robinson, W.P. and Lehman, A.

DOI: 10.1002/ajmg.a.61451

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

European Journal of Human Genetics

Nambot, S. and Faivre, L. and Mirzaa, G. and Thevenon, J. and Bruel, A.-L. and Mosca-Boidron, A.-L. and Masurel-Paulet, A. and Goldenberg, A. and Le Meur, N. and Charollais, A. and Mignot, C. and Petit, F. and Rossi, M. and Metreau, J. and Layet, V. and Amram, D. and Boute-Bnjean, O. and Bhoj, E. and Cousin, M.A. and Kruisselbrink, T.M. and Lanpher, B.C. and Klee, E.W. and Fiala, E. and Grange, D.K. and Meschino, W.S. and Hiatt, S.M. and Cooper, G.M. and Olivi, H. and Smith, W.E. and Dumas, M. and Lehman, A. and Adam, S. and du Souich, C. and Elliott, A.M. and Mwenifumbo, J. and Nelson, T.N. and van Karnebeek, C. and Friedman, J.M. and Inglese, C. and Nizon, M. and Guerrini, R. and Vetro, A. and Kaplan, E.S. and Miramar, D. and Van Gils, J. and Fergelot, P. and Bodamer, O. and Herkert, J.C. and Pajusalu, S. and unap, K. and Filiano, J.J. and Smol, T. and Piton, A. and Grard, B. and Chantot-Bastaraud, S. and Bienvenu, T. and Li, D. and Juusola, J. and Devriendt, K. and Bilan, F. and Po, C. and Chevarin, M. and Jouan, T. and Tisserant, E. and Rivire, J.-B. and Tran Mau-Them, F. and Philippe, C. and Duffourd, Y. and Dobyns, W.B. and Thauvin-Robinet, C. and Thauvin-Robinet, C.

DOI: 10.1038/s41431-020-0571-6

NullCanada: A novel a1-antitrypsin allele with in cis variants Glu366Lys and Ile100Asn

Clinical Biochemistry

Chen, S. and DeMarco, M.L. and Estey, M.P. and Kyle, B. and Parker, M.L. and Agbor, T.A. and Kawada, P. and Speevak, M. and Nelson, T.N. and Mattman, A.

DOI: 10.1016/j.clinbiochem.2020.02.013

The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome

Human Mutation

Chen, C.-A. and Crutcher, E. and Gill, H. and Nelson, T.N. and Robak, L.A. and Jongmans, M.C.J. and Pfundt, R. and Prasad, C. and Berard, R.A. and Fannemel, M. and Frengen, E. and Misceo, D. and Ramsey, K. and Yang, Y. and Schaaf, C.P. and Wang, X.

DOI: 10.1002/humu.24075

Diagnostic yield and treatment impact of targeted exome sequencing in early-onset epilepsy

Frontiers in Neurology

Demos, M. and Guella, I. and DeGuzman, C. and McKenzie, M.B. and Buerki, S.E. and Evans, D.M. and Toyota, E.B. and Boelman, C. and Huh, L.L. and Datta, A. and Michoulas, A. and Selby, K. and Bjornson, B.H. and Horvath, G. and Lopez-Rangel, E. and Van Karnebeek, C.D.M. and Salvarinova, R. and Slade, E. and Eydoux, P. and Adam, S. and Van Allen, M.I. and Nelson, T.N. and Bolbocean, C. and Connolly, M.B. and Farrer, M.J.

DOI: 10.3389/fneur.2019.00434

The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results

American Journal of Human Genetics

Bombard, Y. and Brothers, K.B. and Fitzgerald-Butt, S. and Garrison, N.A. and Jamal, L. and James, C.A. and Jarvik, G.P. and McCormick, J.B. and Nelson, T.N. and Ormond, K.E. and Rehm, H.L. and Richer, J. and Souzeau, E. and Vassy, J.L. and Wagner, J.K. and Levy, H.P.

DOI: 10.1016/j.ajhg.2019.02.025

CCMG practice guideline: Laboratory guidelines for next-generation sequencing

Journal of Medical Genetics

Hume, S. and Nelson, T.N. and Speevak, M. and McCready, E. and Agatep, R. and Feilotter, H. and Parboosingh, J. and Stavropoulos, D.J. and Taylor, S. and Stockley, T.L.

DOI: 10.1136/jmedgenet-2019-106152

Data sharing as a national quality improvement program: Reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)

Genetics in Medicine

Lebo, M.S. and Zakoor, K.-R. and Chun, K. and Speevak, M.D. and Waye, J.S. and McCready, E. and Parboosingh, J.S. and Lamont, R.E. and Feilotter, H. and Bosdet, I. and Tucker, T. and Young, S. and Karsan, A. and Charames, G.S. and Agatep, R. and Spriggs, E.L. and Chisholm, C. and Vasli, N. and Daoud, H. and Jarinova, O. and Tomaszewski, R. and Hume, S. and Taylor, S. and Akbari, M.R. and Lerner-Ellis, J. and Ainsworth, P. and Aronson, M. and Basran, R. and Blavier, A. and Blumenthal, A. and Boycott, K. and Brudno, M. and Buckley, K. and Campbell, J. and Campeau, P.M. and Care, M. and Carson, N. and Carter, R. and Chitayat, D. and Chong, G. and Chouinard, E. and Craddock, K.J. and Docking, R. and Eisen, A. and Faghfoury, H. and Farrell, S. and Fernandez, B. and Fiume, M. and Forster-Gibson, C. and Friedman, J. and Foulkes, W. and Goodhand, P. and Gu, J. and Hegele, R. and Holter, S. and Horsburgh, S. and Hughes, L. and Jewett, F. and Junker, A. and Khalouei, S. and Knoll, J. and Kolomeitz, E. and Knoppers, B. and Maire, G. and Marshall, C. and Mitchell, G. and Moorhouse, M.J. and Morel, C. and Nelson, T. and Noor, A. and O'Connor, B. and O'Rielly, D. and Ouellette, F. and Racher, H. and Ray, P. and Rehm, H. and Riddell, C. and Riviere, J.-B. and Rosenblatt, D.S. and Rouleau, G. and Ruchon, A. and Sabatini, P. and Sadikovic, B. and Semotiuk, K. and Scherer, S.W. and Shuman, C. and Silver, J. and Siminovitch, K. and Solomon-Izsak, L. and Soucy, J.-F. and Stavropoulos, J. and Stein, L. and Tannenbaum, R. and Terespolsky, D. and Wintle, R.F. and Wong, B. and Wong, N. and Wang, M. and Watkins, N. and White, S. and Woods, M.O. and Wyatt, P.

DOI: 10.1038/gim.2017.80

Practice guideline: Joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada

Journal of Medical Genetics

Armour, C.M. and Dougan, S.D. and Brock, J.-A. and Chari, R. and Chodirker, B.N. and Debie, I. and Evans, J.A. and Gibson, W.T. and Kolomietz, E. and Nelson, T.N. and Tihy, F. and Thomas, M.A. and Stavropoulos, D.J.

DOI: 10.1136/jmedgenet-2017-105013

The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia

Molecular Genetics and Genomic Medicine

Elliott, A.M. and du Souich, C. and Adam, S. and Dragojlovic, N. and van Karnebeek, C. and Nelson, T.N. and Lehman, A. and Lynd, L.D. and Friedman, J.M.

DOI: 10.1002/mgg3.410

Choosing Wisely Canada: The Canadian College of Medical Geneticists' (CCMG) list of five items physicians and patients should question

Journal of Medical Genetics

Goh, E. and Guerin, A. and Lazier, J. and Goobie, S. and Nelson, T.N. and Agatep, R. and Siu, V.M. and Niederhoffer, K.Y. and Richer, J.

DOI: 10.1136/jmedgenet-2017-104924

Severe hemolytic disease of the fetus and newborn due to allo-anti-D in a patient with a partial DEL phenotype arising from the variant allele described as RHD148+1T (RHD01EL.31)

Transfusion

Turley, E. and McGowan, E.C. and Hyland, C.A. and Schoeman, E.M. and Flower, R.L. and Skoll, A. and Delisle, M.-F. and Nelson, T. and Clarke, G. and Au, N.

DOI: 10.1111/trf.14944

The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study

Genetics in Medicine

Dragojlovic, N. and Elliott, A.M. and Adam, S. and van Karnebeek, C. and Lehman, A. and Mwenifumbo, J.C. and Nelson, T.N. and du Souich, C. and Friedman, J.M. and Lynd, L.D.

DOI: 10.1038/gim.2017.226

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

American Journal of Human Genetics

Lehman, A. and Thouta, S. and Mancini, G.M.S. and Naidu, S. and van Slegtenhorst, M. and McWalter, K. and Person, R. and Mwenifumbo, J. and Salvarinova, R. and Adam, S. and du Souich, C. and Elliott, A.M. and Nelson, T.N. and van Karnebeek, C. and Friedman, J.M. and Boelman, C. and Bolbocean, C. and Buerki, S.E. and Candido, T. and Eydoux, P. and Evans, D.M. and Gibson, W. and Horvath, G. and Huh, L. and Sinclair, G. and Tarling, T. and Toyota, E.B. and Townsend, K.N. and Van Allen, M.I. and Vercauteren, S. and Guella, I. and McKenzie, M.B. and Datta, A. and Connolly, M.B. and Kalkhoran, S.M. and Poburko, D. and Farrer, M.J. and Demos, M. and Desai, S. and Claydon, T.

DOI: 10.1016/j.ajhg.2017.05.016

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy

American Journal of Human Genetics

Guella, I. and McKenzie, M.B. and Evans, D.M. and Buerki, S.E. and Toyota, E.B. and Van Allen, M.I. and Adam, S. and Boelman, C. and Bolbocean, C. and Candido, T. and Eydoux, P. and Horvath, G. and Huh, L. and Nelson, T.N. and Sinclair, G. and van Karnebeek, C. and Vercauteren, S. and Suri, M. and Elmslie, F. and Simon, M.E.H. and van Gassen, K.L.I. and Hron, D. and Keren, B. and Nava, C. and Connolly, M.B. and Demos, M. and Farrer, M.J.

DOI: 10.1016/j.ajhg.2017.07.004

An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2

Pediatric Neurology

Wilbur, C. and Buerki, S.E. and Guella, I. and Toyota, E.B. and Evans, D.M. and McKenzie, M.B. and Datta, A. and Michoulas, A. and Adam, S. and Van Allen, M.I. and Nelson, T.N. and Farrer, M.J. and Connolly, M.B. and Demos, M.

DOI: 10.1016/j.pediatrneurol.2017.06.003

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 Nmeth, A.H.

DOI: 10.1016/j.ajhg.2016.11.020

Incidental finding of paternal UPD15 in a child with a deletion of 11q21-q22.3, presenting with developmental delay, coloboma and characteristic dysmorphic features

Clinical Dysmorphology

Tucker, T. and Steinraths, M. and Oh, T. and Nelson, T.N. and Van Allen, M.I. and Brown, L. and Schlade-Bartusiak, K.

DOI: 10.1097/MCD.0000000000000108

A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening

Molecular Genetics and Metabolism

Sinclair, G.B. and van Karnebeek, C.D.M. and Ester, M. and Boyd, F. and Nelson, T. and Stockler-Ipsiroglu, S. and Vallance, H.

DOI: 10.1016/j.ymgme.2016.05.002

Joint SOGC"CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing

Journal of Obstetrics and Gynaecology Canada

Wilson, R.D. and De Bie, I. and Armour, C.M. and Brown, R.N. and Campagnolo, C. and Carroll, J.C. and Okun, N. and Nelson, T. and Zwingerman, R. and Audibert, F. and Brock, J.-A. and Brown, R.N. and Campagnolo, C. and Carroll, J.C. and De Bie, I. and Johnson, J.-A. and Okun, N. and Pastruck, M. and Valle-Pouliot, K. and Wilson, R.D. and Zwingerman, R. and Armour, C. and Chitayat, D. and De Bie, I. and Fernandez, S. and Kim, R. and Lavoie, J. and Leonard, N. and Nelson, T. and Taylor, S. and Van Allen, M. and Van Karnebeek, C.

DOI: 10.1016/j.jogc.2016.06.008

Joint SOGC-CCMG opinion for reproductive genetic carrier screening: An update for all Canadian providers of maternity and reproductive healthcare in the era of direct-to-consumer testing,Opinion commune de la SOGC et du CCGM sur le dpistage gntique en contexte de procration : Mise jour l'intention de l'ensemble des prestataires canadiens de soins de sant maternelle et de services en procr

Journal of Obstetrics and Gynaecology Canada

Wilson, R.D. and De Bie, I. and Armour, C.M. and Brown, R.N. and Campagnolo, C. and Carroll, J.C. and Okun, N. and Nelson, T. and Zwingerman, R.

DOI: 10.1016/j.jogc.2016.07.008

De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy

Neurology: Genetics

Guella, I. and Huh, L. and McKenzie, M.B. and Toyota, E.B. and Martina Bebin, E. and Thompson, M.L. and Cooper, G.M. and Evans, D.M. and Buerki, S.E. and Adam, S. and Van Allen, M.I. and Nelson, T.N. and Connolly, M.B. and Farrer, M.J. and Demos, M.

DOI: 10.1212/NXG.0000000000000120

Canadian open genetics repository (COGR): A unified clinical genomics database as a community resource for standardising and sharing genetic interpretations

Journal of Medical Genetics

Lerner-Ellis, J. and Wang, M. and White, S. and Lebo, M.S. and Agatep, R. and Ainsworth, P. and Akbari, M.R. and Aronson, M. and Bader, G.D. and Basran, R. and Blavier, A. and Blumenthal, A. and Buckley, K. and Campbell, J. and Campeau, P.M. and Care, M. and Carson, N. and Carter, R. and Charames, G. and Chitayat, D. and Chong, G. and Chouinard, E. and Chun, K. and Craddock, K.J. and Docking, R. and Eisen, A. and Faghfoury, H. and Farrell, S. and Feilotter, H. and Fernandez, B. and Forster-Gibson, C. and Foulkes, W. and Hegele, R. and Holter, S. and Horsburgh, S. and Hughes, L. and Hume, S. and Jewett, F. and Karsan, A. and Khalouei, S. and Knoll, J. and Kolomeitz, E. and Maire, G. and Marshall, C. and McCready, E. and Moorhouse, M.J. and Morel, C. and Nelson, T. and O'Connor, B. and Ouellette, F. and Parboosingh, J. and Ray, P. and Rehm, H. and Riddell, C. and Rosenblatt, D.S. and Ruchon, A. and Sadikovic, B. and Semotiuk, K. and Scherer, S.W. and Shuman, C. and Silver, J. and Siminovitch, K. and Solomon-Izsak, L. and Speevak, M. and Stavropoulos, J. and Stein, L. and Tannenbaum, R. and Terespolsky, D. and Wintle, R.F. and Wong, B. and Wong, N. and Waye, J.S. and Woods, M.O. and Wyatt, P. and Young, S.

DOI: 10.1136/jmedgenet-2014-102933

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position statement of the Canadian College of medical geneticists

Journal of Medical Genetics

Boycott, K. and Hartley, T. and Adam, S. and Bernier, F. and Chong, K. and Fernandez, B.A. and Friedman, J.M. and Geraghty, M.T. and Hume, S. and Knoppers, B.M. and Laberge, A.-M. and Majewski, J. and Mendoza-Londono, R. and Meyn, M.S. and Michaud, J.L. and Nelson, T.N. and Richer, J. and Sadikovic, B. and Skidmore, D.L. and Stockley, T. and Taylor, S. and van Karnebeek, C. and Zawati, M.H. and Lauzon, J. and Armour, C.M.

DOI: 10.1136/jmedgenet-2015-103144

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

Uniparental disomy: Can SNP array data be used for diagnosis?

Genetics in Medicine

Tucker, T. and Schlade-Bartusiak, K. and Eydoux, P. and Nelson, T.N. and Brown, L.

DOI: 10.1038/gim.2012.35

Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy

Pediatrics

Mercimek-Mahmutoglu, S. and Horvath, G.A. and Coulter-Mackie, M. and Nelson, T. and Waters, P.J. and Sargent, M. and Struys, E. and Jakobs, C. and Stockler-Ipsiroglu, S. and Connolly, M.B.

DOI: 10.1542/peds.2011-0123

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.

A co-occurrence of osteogenesis imperfecta type VI and cystinosis

American Journal of Medical Genetics, Part A

Tucker, T. and Nelson, T. and Sirrs, S. and Roughley, P. and Glorieux, F.H. and Moffatt, P. and Schlade-Bartusiak, K. and Brown, L. and Rauch, F.

DOI: 10.1002/ajmg.a.35319

Use of array genomic hybridization technology in prenatal diagnosis in Canada,Recours la technologie d'hybridation gnomique matricielle dans le cadre du diagnostic prnatal au Canada

Journal of Obstetrics and Gynaecology Canada

Duncan, A. and Langlois, S. and Wilson, R.D. and Audibert, F. and Brock, J.-A. and Carroll, J. and Cartier, L. and Gagnon, A. and Johnson, J.-A. and Murphy-Kaulbeck, L. and Okun, N. and Pastuck, M. and Chitayat, D. and DeBie, I. and Demczuk, S. and Dsilets, V.A. and Geraghty, M.T. and Marcadier, J. and Nelson, T.N. and Siu, V. and Skidmore, D.

DOI: 10.1016/S1701-2163(16)35113-1

Use of Array Genomic Hybridization Technology in Prenatal Diagnosis in Canada

Journal of Obstetrics and Gynaecology Canada

Duncan, A. and Langlois, S. and Wilson, R.D. and Audibert, F. and Brock, J.-A. and Carroll, J. and Cartier, L. and Gagnon, A. and Johnson, J.-A. and Murphy-Kaulbeck, L. and Okun, N. and Pastuck, M. and Chitayat, D. and DeBie, I. and Demczuk, S. and Dsilets, V.A. and Geraghty, M.T. and Marcadier, J. and Nelson, T.N. and Siu, V. and Skidmore, D.

DOI: 10.1016/S1701-2163(16)35112-X

Prenatal screening for fetal aneuploidy in singleton pregnancies,Dpistage prnatal de l'aneuplodie f"tale en ce qui concerne les grossesses monof"tales

Journal of Obstetrics and Gynaecology Canada

Chitayat, D. and Langlois, S. and Douglas Wilson, R. and Audibert, F. and Blight, C. and Brock, J.-A. and Cartier, L. and Carroll, J. and Dsilets, V.A. and Gagnon, A. and Johnson, J.-A. and Murphy-Kaulbeck, L. and Okun, N. and Pastuck, M. and Senikas, V. and DeBie, I. and Demczuk, S. and Geraghty, M.T. and Marcadier, J. and Nelson, T.N. and Skidmore, D. and Siu, V.

DOI: 10.1016/S1701-2163(16)34962-3

Prenatal screening for and diagnosis of aneuploidy in twin pregnancies,Dpistage et diagnostic prnatals de l'aneuplodie en ce qui concerne les grossesses gmellaires

Journal of Obstetrics and Gynaecology Canada

Audibert, F. and Gagnon, A. and Douglas Wilson, R. and Blight, C. and Brock, J.-A. and Cartier, L. and Dsilets, V.A. and Johnson, J.-A. and Langlois, S. and Murphy-Kaulbeck, L. and Okun, N. and Pastuck, M. and Senikas, V. and Chitayat, D. and Geraghty, M.T. and Marcadier, J. and Nelson, T.N. and Skidmore, D. and Siu, V. and Tihy, F.

DOI: 10.1016/S1701-2163(16)34964-7

Use of a DNA method, QF-PCR, in the prenatal diagnosis of fetal aneuploidies,Recours une mthode ADN (QF-PCR) dans le diagnostic prnatal des aneuplodies f"tales

Journal of Obstetrics and Gynaecology Canada

Langlois, S. and Duncan, A. and Wilson, R.D. and Audibert, F. and Brock, J.-A. and Carroll, J. and Cartier, L. and Dsilets, V.A. and Gagnon, A. and Johnson, J.-A. and Murphy-Kaulbeck, L. and Okun, N. and Pastuck, M. and Chitayat, D. and DeBie, I. and Demczuk, S. and Geraghty, M.T. and Marcadier, J. and Nelson, T.N. and Siu, V. and Skidmore, D.

DOI: 10.1016/S1701-2163(16)35023-X

Prenatal Screening for Fetal Aneuploidy in Singleton Pregnancies

Journal of Obstetrics and Gynaecology Canada

Chitayat, D. and Langlois, S. and Douglas Wilson, R. and Douglas Wilson, R. and Audibert, F. and Blight, C. and Brock, J.-A. and Cartier, L. and Carroll, J. and Dsilets, V.A. and Gagnon, A. and Johnson, J.-A. and Murphy-Kaulbeck, L. and Okun, N. and Pastuck, M. and Senikas, V. and DeBie, I. and Demczuk, S. and Desilets, V.A. and Geraghty, M.T. and Marcadier, J. and Nelson, T.N. and Skidmore, D. and Siu, V.

DOI: 10.1016/S1701-2163(16)34961-1

Prenatal Screening for and Diagnosis of Aneuploidy in Twin Pregnancies

Journal of Obstetrics and Gynaecology Canada

Audibert, F. and Gagnon, A. and Douglas Wilson, R. and Blight, C. and Brock, J.-A. and Cartier, L. and Dsilets, V.A. and Johnson, J.-A. and Langlois, S. and Murphy-Kaulbeck, L. and Okun, N. and Pastuck, M. and Senikas, V. and Chitayat, D. and Geraghty, M.T. and Marcadier, J. and Nelson, T.N. and Skidmore, D. and Siu, V. and Tihy, F.

DOI: 10.1016/S1701-2163(16)34963-5

Use of a DNA Method, QF-PCR, in the Prenatal Diagnosis of Fetal Aneuploidies

Journal of Obstetrics and Gynaecology Canada

Langlois, S. and Duncan, A. and Wilson, R.D. and Audibert, F. and Brock, J.-A. and Carroll, J. and Cartier, L. and Dsilets, V.A. and Gagnon, A. and Johnson, J.-A. and Murphy-Kaulbeck, L. and Okun, N. and Pastuck, M. and Chitayat, D. and DeBie, I. and Demczuk, S. and Geraghty, M.T. and Marcadier, J. and Nelson, T.N. and Siu, V. and Skidmore, D.

DOI: 10.1016/S1701-2163(16)35022-8

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome

American Journal of Human Genetics

McLarren, K.W. and Severson, T.M. and Du Souich, C. and Stockton, D.W. and Kratz, L.E. and Cunningham, D. and Hendson, G. and Morin, R.D. and Wu, D. and Paul, J.E. and An, J. and Nelson, T.N. and Chou, A. and Debarber, A.E. and Merkens, L.S. and Michaud, J.L. and Waters, P.J. and Yin, J. and McGillivray, B. and Demos, M. and Rouleau, G.A. and Grzeschik, K.-H. and Smith, R. and Tarpey, P.S. and Shears, D. and Schwartz, C.E. and Gecz, J. and Stratton, M.R. and Arbour, L. and Hurlburt, J. and Van Allen, M.I. and Herman, G.E. and Zhao, Y. and Moore, R. and Kelley, R.I. and Jones, S.J.M. and Steiner, R.D. and Raymond, F.L. and Marra, M.A. and Boerkoel, C.F.

DOI: 10.1016/j.ajhg.2010.11.004

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

Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus

American Journal of Medical Genetics, Part A

Du Souich, C. and Chou, A. and Yin, J. and Oh, T. and Nelson, T.N. and Hurlburt, J. and Arbour, L. and Friedlander, R. and McGillivray, B.C. and Tyshchenko, N. and Rump, A. and Poskitt, K.J. and Demos, M.K. and Van Allen, M.I. and Boerkoel, C.F.

DOI: 10.1002/ajmg.a.33071

Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11

Clinical Genetics

Schrader, K.A. and Nelson, T.N. and De Luca, A. and Huntsman, D.G. and Mcgillivray, B.C.

DOI: 10.1111/j.1399-0004.2008.01100.x

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

Fragile X testing in obstetrics and gynecology in Canada,Dpistage du X fragile en obsttrique-gyncologie au Canada

Journal of Obstetrics and Gynaecology Canada

Chitayat, D. and Wyatt, P.R. and Douglas Wilson, R. and Johnson, J.-A. and Audibert, F. and Allen, V. and Gagnon, A. and Langlois, S. and Blight, C. and Brock, J.-A. and Dsilets, V. and Dsilets, V.A. and Farrell, S.A. and Geraghty, M. and Nelson, T. and Nikkel, S.M. and Skidmore, D. and Shugar, A.

DOI: 10.1016/S1701-2163(16)32950-4

Carrier Screening for Thalassemia and Hemoglobinopathies in Canada

Journal of Obstetrics and Gynaecology Canada

Langlois, S. and Ford, J.C. and Chitayat, D. and Dsilets, V.A. and Farrell, S.A. and Geraghty, M. and Nelson, T. and Nikkel, S.M. and Shugar, A. and Skidmore, D. and Allen, V.M. and Audibert, F. and Blight, C. and Gagnon, A. and Johnson, J.-A. and Douglas Wilson, R. and Wyatt, P.

DOI: 10.1016/S1701-2163(16)32975-9

Carrier screening for thalassemia and hemoglobinopathies in Canada,Dpistage des porteurs de thalassmie et d'hmoglobinopathies au Canada

Journal of Obstetrics and Gynaecology Canada

Langlois, S. and Ford, J.C. and Chitayat, D. and Dsilets, V.A. and Farrell, S.A. and Geraghty, M. and Nelson, T. and Nikkel, S.M. and Skidmore, D. and Shugar, A. and Wilson, R.D. and Johnson, J.-A. and Audibert, F. and Allen, V.M. and Gagnon, A. and Wyatt, P.R. and Blight, C.

DOI: 10.1016/S1701-2163(16)32976-0

Fragile X Testing in Obstetrics and Gynaecology in Canada

Journal of Obstetrics and Gynaecology Canada

Chitayat, D. and Wyatt, P.R. and Wilson, R.D. and Johnson, J.-A. and Audibert, F. and Allen, V. and Gagnon, A. and Langlois, S. and Blight, C. and Brock, J.-A. and Dsilets, V. and Dsilets, V.A. and Farrell, S.A. and Geraghty, M. and Nelson, T. and Nikkel, S.M. and Skidmore, D. and Shugar, A.

DOI: 10.1016/S1701-2163(16)32949-8

Mid-trimester amniocentesis fetal loss rate,Taux de perte foetale associe l'amniocentse mene au cours du deuxime trimestre

Journal of Obstetrics and Gynaecology Canada

Wilson, R.D. and Langlois, S. and Johnson, J.-A. and Dsilets, V. and Audibert, F. and Gagnon, A. and Wyatt, P. and Allen, V. and Blight, C. and Chitayat, D. and Farrell, S.A. and Nelson, T. and Nikkel, S.M. and Skidmore, D.

DOI: 10.1016/S1701-2163(16)32502-6

Mid-Trimester Amniocentesis Fetal Loss Rate

Journal of Obstetrics and Gynaecology Canada

Wilson, R.D. and Langlois, S. and Johnson, J.-A. and Desilets, V. and Audibert, F. and Gagnon, A. and Wyatt, P. and Allen, V. and Blight, C. and Chitayat, D. and Farrell, S.A. and Nelson, T. and Nikkel, S.M. and Skidmore, D.

DOI: 10.1016/S1701-2163(16)32501-4

Renal-hepatic-pancreatic dysplasia: An autosomal recessive condition that is not linked to the PKHD1 gene on chromosome 6p21.1-p12 [7]

American Journal of Medical Genetics, Part A

Schrader, K.A. and Nelson, T.N. and McFadden, D.E. and Pantzar, T. and Langlois, S.

DOI: 10.1002/ajmg.a.31818

V37I connexin 26 allele in patients with sensorineural hearing loss: Evidence of its pathogenicity

American Journal of Medical Genetics, Part A

Huculak, C. and Bruyere, H. and Nelson, T.N. and Kozak, F.K. and Laaglois, S.

DOI: 10.1002/ajmg.a.31486

Severe FVII deficiency caused by a new point mutation combined with a previously undetected gene deletion

British Journal of Haematology

Hewitt, J. and Ballard, J.N.M. and Nelson, T.N. and Smith, V.C. and Griffiths, T.A.M. and Pritchard, S. and Wu, J.K. and Wadsworth, L.D. and Casey, B. and MacGillivray, R.T.A.

DOI: 10.1111/j.1365-2141.2004.05296.x

Confirmation of paternity suggests a new mutation in the factor VII gene: 'Pater certus quouque est' - Response to Girolami et al. [2]

British Journal of Haematology

Hewitt, J. and Ballard, J.N.M. and Nelson, T.N. and Smith, V.C. and Griffiths, T.A.M. and Pritchard, S. and Wu, J.K. and Wadsworth, L.D. and Casey, B. and MacGillivray, R.T.A.

DOI: 10.1111/j.1365-2141.2005.05624.x

Stage-specific expression in Leishmania conferred by 3' untranslated regions of L. major leishmanolysin genes (GP63)

Molecular and Biochemical Parasitology

Kelly, B.L. and Nelson, T.N. and McMaster, W.Robert

DOI: 10.1016/S0166-6851(01)00307-3

BSc, FCCMG, PhD

Investigator and Clinical Molecular Geneticist, BC Children's Hospital Division Head, Genome Diagnostics, BC Children's & BC Women's Hospitals

Academic Affiliations

Contact Information

Location

Publications

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Mainstreaming of clinical genetic testing: A conceptual framework

Reproductive carrier screening for genetic disorders: Position statement of the Canadian College of Medical Geneticists

A Study on the Incidence and Prevalence of 5q Spinal Muscular Atrophy in Canada Using Multiple Data Sources,tude sur lincidence et la prvalence de lamyotrophie spinale lie au chromosome 5q [AS 5q] au Canada, fonde sur diffrentes sources de donnes

Canadian College of Medical Geneticists: Clinical practice advisory document-Responsibility to recontact for reinterpretation of clinical genetic testing

Genetic and metabolic investigations for neurodevelopmental disorders: Position statement of the Canadian College of Medical Geneticists (CCMG)

Next generation of free? Points to consider when navigating sponsored genetic testing

Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study

Correction to: Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions (Genome Medicine, (2021), 13, 1, (126), 10.1186/s13073-021-00932-9)

Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions

After genomic testing results: Parents long-term views

Targeted treatment of immune thrombocytopenia in CTLA-4 insufficiency: a case report

Integration of genetic counsellors in genomic testing triage: Outcomes of a Genomic Consultation Service in British Columbia, Canada

NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy

Is the diagnostic rate for the common subtypes of A1AT deficiency consistent across two Canadian Provinces?

Performance of a three-tier (IRT-DNA-IRT) cystic fibrosis screening algorithm in British Columbia

The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders

Alpha-1-antitrypsin molecular testing in Canada: A seven year, multi-centre comparison

Renpenning syndrome in a female

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

NullCanada: A novel a1-antitrypsin allele with in cis variants Glu366Lys and Ile100Asn

The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome

Diagnostic yield and treatment impact of targeted exome sequencing in early-onset epilepsy

The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results

CCMG practice guideline: Laboratory guidelines for next-generation sequencing

Data sharing as a national quality improvement program: Reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)

Practice guideline: Joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada

The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia

Choosing Wisely Canada: The Canadian College of Medical Geneticists' (CCMG) list of five items physicians and patients should question

Severe hemolytic disease of the fetus and newborn due to allo-anti-D in a patient with a partial DEL phenotype arising from the variant allele described as RHD*148+1T (RHD*01EL.31)

The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy

An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome

Incidental finding of paternal UPD15 in a child with a deletion of 11q21-q22.3, presenting with developmental delay, coloboma and characteristic dysmorphic features

A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening

Joint SOGC"CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing

De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy

Canadian open genetics repository (COGR): A unified clinical genomics database as a community resource for standardising and sharing genetic interpretations

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position statement of the Canadian College of medical geneticists

CCMG statement on gene patents

Uniparental disomy: Can SNP array data be used for diagnosis?

Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy

CCMG statement on direct-to-consumer genetic testing.

A co-occurrence of osteogenesis imperfecta type VI and cystinosis

Use of array genomic hybridization technology in prenatal diagnosis in Canada,Recours la technologie d'hybridation gnomique matricielle dans le cadre du diagnostic prnatal au Canada

Use of Array Genomic Hybridization Technology in Prenatal Diagnosis in Canada

Prenatal screening for fetal aneuploidy in singleton pregnancies,Dpistage prnatal de l'aneuplodie f"tale en ce qui concerne les grossesses monof"tales

Prenatal screening for and diagnosis of aneuploidy in twin pregnancies,Dpistage et diagnostic prnatals de l'aneuplodie en ce qui concerne les grossesses gmellaires

Use of a DNA method, QF-PCR, in the prenatal diagnosis of fetal aneuploidies,Recours une mthode ADN (QF-PCR) dans le diagnostic prnatal des aneuplodies f"tales

Prenatal Screening for Fetal Aneuploidy in Singleton Pregnancies

Prenatal Screening for and Diagnosis of Aneuploidy in Twin Pregnancies

Use of a DNA Method, QF-PCR, in the Prenatal Diagnosis of Fetal Aneuploidies

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome

Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols

Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus

Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11

A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction

Fragile X testing in obstetrics and gynecology in Canada,Dpistage du X fragile en obsttrique-gyncologie au Canada

Carrier Screening for Thalassemia and Hemoglobinopathies in Canada

Carrier screening for thalassemia and hemoglobinopathies in Canada,Dpistage des porteurs de thalassmie et d'hmoglobinopathies au Canada

Fragile X Testing in Obstetrics and Gynaecology in Canada

Mid-trimester amniocentesis fetal loss rate,Taux de perte foetale associe l'amniocentse mene au cours du deuxime trimestre

Mid-Trimester Amniocentesis Fetal Loss Rate

Renal-hepatic-pancreatic dysplasia: An autosomal recessive condition that is not linked to the PKHD1 gene on chromosome 6p21.1-p12 [7]

V37I connexin 26 allele in patients with sensorineural hearing loss: Evidence of its pathogenicity

Severe FVII deficiency caused by a new point mutation combined with a previously undetected gene deletion

Confirmation of paternity suggests a new mutation in the factor VII gene: 'Pater certus quouque est' - Response to Girolami et al. [2]

Stage-specific expression in Leishmania conferred by 3' untranslated regions of L. major leishmanolysin genes (GP63)

Research

Investigator and Clinical Molecular Geneticist, BC Children's Hospital
Division Head, Genome Diagnostics, BC Children's & BC Women's Hospitals

Severe hemolytic disease of the fetus and newborn due to allo-anti-D in a patient with a partial DEL phenotype arising from the variant allele described as RHD148+1T (RHD01EL.31)