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The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists
Author / Creator:Boycott, Kym ; Hartley, Taila ; Adam, Shelin ; Bernier, Francois ; Chong, Karen ; Fernandez, Bridget A ; Friedman, Jan M ; Geraghty, Michael T ; Hume, Stacey ; Knoppers, Bartha M ; Laberge, Anne-Marie ; Majewski, Jacek ; Mendoza-Londono, Roberto ; Meyn, M Stephen ; Michaud, Jacques L ; Nelson, Tanya N ; Richer, Julie ; Sadikovic, Bekim ; Skidmore, David L ; Stockley, Tracy ; Taylor, Sherry ; van Karnebeek, Clara ; Zawati, Ma'n H ; Lauzon, Julie ; Armour, Christine M
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2015-07, Vol.52 (7), p.431-437
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Application of exome sequencing for prenatal diagnosis: a rapid scoping review
Author / Creator:Pratt, Misty ; Garritty, Chantelle ; Thuku, Micere ; Esmaeilisaraji, Leila ; Hamel, Candyce ; Hartley, Taila ; Millar, Kathryn ; Skidmore, Becky ; Dougan, Shelley ; Armour, Christine M.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2020-12, Vol.22 (12), p.1925-1934
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Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variants
Author / Creator:Haque, Bushra ; Cheerie, David ; Pan, Amy ; Curtis, Meredith ; Nalpathamkalam, Thomas ; Nguyen, Jimmy ; Salhab, Celine ; Thiruvahindrapuram, Bhooma ; Zhang, Jade ; Couse, Madeline ; Hartley, Taila ; Morrow, Michelle M. ; Price, E. Magda ; Walker, Susan ; Malkin, David ; Roth, Frederick P. ; Costain, Gregory
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2025-01, Vol.21 (1), p.e1011540
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Positioning whole exome sequencing in the diagnostic pathway for rare disease to optimise utility: a protocol for an observational cohort study and an economic evaluation
Author / Creator:Hayeems, Robin Z ; Bernier, Francois ; Boycott, Kym M ; Hartley, Taila ; Michaels-Igbokwe, Christine ; Marshall, Deborah A
Publisher:London: British Medical Journal Publishing Group
Journal title:BMJ open, 2022-10, Vol.12 (10), p.e061468-e061468
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Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1
Author / Creator:Bhola, Priya T ; Hartley, Taila ; Bareke, Eric ; Boycott, K M ; MacKenzie, A E ; Majewski, J ; Brudno, M ; Bulman, D E ; Dyment, D A ; Boycott, Kym M ; Nikkel, Sarah M ; Dyment, David A
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2017-06, Vol.62 (6), p.661-663
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Concordance between whole‐exome sequencing and clinical Sanger sequencing: implications for patient care
Author / Creator:Hamilton, Alison ; Tétreault, Martine ; Dyment, David A. ; Zou, Ruobing ; Kernohan, Kristin ; Geraghty, Michael T. ; Hartley, Taila ; Boycott, Kym M.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2016-09, Vol.4 (5), p.504-512
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Endoplasmic reticulum stress response in an INS-1 pancreatic β-cell line with inducible expression of a folding-deficient proinsulin
Author / Creator:Hartley, Taila ; Siva, Madura ; Lai, Elida ; Teodoro, Tracy ; Zhang, Liling ; Volchuk, Allen
Publisher:England: BioMed Central Ltd
Journal title:BMC cell biology, 2010-07, Vol.11 (1), p.59-59, Article 59
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Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists
Author / Creator:Lazier, Joanna ; Hartley, Taila ; Brock, Jo-Ann ; Caluseriu, Oana ; Chitayat, David ; Laberge, Anne-Marie ; Langlois, Sylvie ; Lauzon, Julie ; Nelson, Tanya N ; Parboosingh, Jillian ; Stavropoulos, Dimitri J ; Boycott, Kym ; Armour, Christine M
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2022-10, Vol.59 (10), p.931-937
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Germline AGO2 mutations impair RNA interference and human neurological development
Author / Creator:Lessel, Davor ; Zeitler, Daniela M. ; Reijnders, Margot R. F. ; Kazantsev, Andriy ; Hassani Nia, Fatemeh ; Bartholomäus, Alexander ; Martens, Victoria ; Bruckmann, Astrid ; Graus, Veronika ; McConkie-Rosell, Allyn ; McDonald, Marie ; Lozic, Bernarda ; Tan, Ee-Shien ; Gerkes, Erica ; Johannsen, Jessika ; Denecke, Jonas ; Telegrafi, Aida ; Zonneveld-Huijssoon, Evelien ; Lemmink, Henny H. ; Cham, Breana W. M. ; Kovacevic, Tanja ; Ramsdell, Linda ; Foss, Kimberly ; Le Duc, Diana ; Mitter, Diana ; Syrbe, Steffen ; Merkenschlager, Andreas ; Sinnema, Margje ; Panis, Bianca ; Lazier, Joanna ; Osmond, Matthew ; Hartley, Taila ; Mortreux, Jeremie ; Busa, Tiffany ; Missirian, Chantal ; Prasun, Pankaj ; Lüttgen, Sabine ; Mannucci, Ilaria ; Lessel, Ivana ; Schob, Claudia ; Kindler, Stefan ; Pappas, John ; Rabin, Rachel ; Willemsen, Marjolein ; Gardeitchik, Thatjana ; Löhner, Katharina ; Rump, Patrick ; Dias, Kerith-Rae ; Evans, Carey-Anne ; Andrews, Peter Ian ; Roscioli, Tony ; Brunner, Han G. ; Chijiwa, Chieko ; Lewis, M. E. Suzanne ; Jamra, Rami Abou ; Dyment, David A. ; Boycott, Kym M. ; Stegmann, Alexander P. A. ; Kubisch, Christian ; Tan, Ene-Choo ; Mirzaa, Ghayda M. ; McWalter, Kirsty ; Kleefstra, Tjitske ; Pfundt, Rolph ; Ignatova, Zoya ; Meister, Gunter ; Kreienkamp, Hans-Jürgen
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2020-11, Vol.11 (1), p.5797-14, Article 5797
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The Benefit of Multigene Panel Testing for the Diagnosis and Management of the Genetic Epilepsies
Author / Creator:Leduc-Pessah, Heather ; White-Brown, Alexandre ; Hartley, Taila ; Pohl, Daniela ; Dyment, David A.
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2022-05, Vol.13 (5), p.872
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The value of diagnostic testing for parents of children with rare genetic diseases
Author / Creator:Marshall, Deborah A. ; MacDonald, Karen V. ; Heidenreich, Sebastian ; Hartley, Taila ; Bernier, Francois P. ; Gillespie, Meredith K. ; McInnes, Brenda ; Innes, A. Micheil ; Armour, Christine M. ; Boycott, Kym M.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-12, Vol.21 (12), p.2798-2806
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OP168 Costs And Effectiveness Of Whole Exome Sequencing (WES) In Patients With Unsolved Rare Disease Through The Diagnostic Pathway
Author / Creator:Marshall, Deborah A ; Degeling, Koen ; Tagimacruz, Toni ; Seeger, Trevor A. ; Boycott, Kym M ; Bernier, Francois ; Mendoza-Londona, Roberto ; MacDonald, Karen V. ; Hartley, Taila ; Hayeems, Robin Z.
Publisher:New York, USA: Cambridge University Press
Journal title:International journal of technology assessment in health care, 2023-12, Vol.39 (S1), p.S50-S50
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Fragile X testing as a second-tier test
Author / Creator:Hartley, Taila ; Potter, Ryan ; Badalato, Lauren ; Smith, Amanda C ; Jarinova, Olga ; Boycott, Kym M
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2017-12, Vol.19 (12), p.1380-1380
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Direct health-care costs for children diagnosed with genetic diseases are significantly higher than for children with other chronic diseases
Author / Creator:Marshall, Deborah A. ; Benchimol, Eric I. ; MacKenzie, Alex ; Duque, Daniel Rodriguez ; MacDonald, Karen V. ; Hartley, Taila ; Howley, Heather ; Hamilton, Alison ; Gillespie, Meredith ; Malam, Faheem ; Boycott, Kym M.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-05, Vol.21 (5), p.1049-1057
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MG-109 Revisiting a clinical diagnosis 15 years later with the aid of whole exome sequencing: Osteopetrosis versus harderophorphyria
Author / Creator:Mendoza, Roberto ; Dupuis, Lucie ; Kannu, Peter ; Hartley, Taila ; Bareke, Eric ; Boycott, Kym
Journal title:Journal of medical genetics, 2015-11, Vol.52 (Suppl 2), p.A4-A4
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Correction: The value of diagnostic testing for parents of children with rare genetic diseases
Author / Creator:Marshall, Deborah A. ; MacDonald, Karen V. ; Heidenreich, Sebastian ; Hartley, Taila ; Bernier, Francois P. ; Gillespie, Meredith K. ; McInnes, Brenda ; Innes, A. Micheil ; Armour, Christine M. ; Boycott, Kym M.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-11, Vol.21 (11), p.2662-2662
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Implementation of Epilepsy Multigene Panel Testing in Ontario, Canada
Author / Creator:Dyment, David A ; Prasad, Asuri N ; Boycott, Kym M ; Ediae, Grace U ; Hartley, Taila ; Hassan, Ayman ; Muir, Katherine E ; Potter, Murray ; Lysa Boisse Lomax ; Jarinova, Olga ; Sadikovic, Bekim ; Stavropoulos, Dimitri J ; Snead, O Carter
Publisher:Calgary: Cambridge University Press
Journal title:Canadian journal of neurological sciences, 2020-01, Vol.47 (1), p.61-68
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Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case Report and Literature Review
Author / Creator:Weiman, Daniel I. ; Gillespie, Meredith K. ; Hartley, Taila ; Osmond, Matthew ; Ito, Yoko ; Boycott, Kym M. ; Kernohan, Kristin D. ; Lines, Matthew ; McMillan, Hugh J.
Publisher:Los Angeles, CA: SAGE Publications
Journal title:Child neurology open, 2021-01, Vol.8
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Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, Canada
Author / Creator:Hartley, Taila ; Cavallone, Luca ; Sabbaghian, Nelly ; Silva-Smith, Rachel ; Hamel, Nancy ; Aleynikova, Olga ; Smith, Erika ; Hastings, Valerie ; Pinto, Pedro ; Tischkowitz, Marc ; Tomiak, Eva ; Foulkes, William D
Publisher:Poland: BioMed Central Ltd
Journal title:Hereditary cancer in clinical practice, 2014-08, Vol.12 (1), p.19-19, Article 19
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Implementation of Epilepsy Multigene Panel Testing in Ontario, Canada
Author / Creator:Dyment, David A. ; Prasad, Asuri N. ; Boycott, Kym M. ; Ediae, Grace U. ; Hartley, Taila ; Hassan, Ayman ; Muir, Katherine E. ; Potter, Murray ; Boisse Lomax, Lysa ; Jarinova, Olga ; Sadikovic, Bekim ; Stavropoulos, Dimitri J. ; Snead, O. Carter
Journal title:Canadian journal of neurological sciences, 2020-01, Vol.47 (1), p.61-68
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The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

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Application of exome sequencing for prenatal diagnosis: a rapid scoping review

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Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variants

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Positioning whole exome sequencing in the diagnostic pathway for rare disease to optimise utility: a protocol for an observational cohort study and an economic evaluation

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Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1

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Concordance between whole‐exome sequencing and clinical Sanger sequencing: implications for patient care

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Endoplasmic reticulum stress response in an INS-1 pancreatic β-cell line with inducible expression of a folding-deficient proinsulin

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

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Germline AGO2 mutations impair RNA interference and human neurological development

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The Benefit of Multigene Panel Testing for the Diagnosis and Management of the Genetic Epilepsies

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The value of diagnostic testing for parents of children with rare genetic diseases

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OP168 Costs And Effectiveness Of Whole Exome Sequencing (WES) In Patients With Unsolved Rare Disease Through The Diagnostic Pathway

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Fragile X testing as a second-tier test

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Direct health-care costs for children diagnosed with genetic diseases are significantly higher than for children with other chronic diseases

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MG-109 Revisiting a clinical diagnosis 15 years later with the aid of whole exome sequencing: Osteopetrosis versus harderophorphyria

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Correction: The value of diagnostic testing for parents of children with rare genetic diseases

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Implementation of Epilepsy Multigene Panel Testing in Ontario, Canada

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Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case Report and Literature Review

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Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, Canada

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Implementation of Epilepsy Multigene Panel Testing in Ontario, Canada

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