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Author/Creator Hartley, Taila

2. A novel multisystem disease associated with recessive mutations in the tyrosyl‐tRNA synthetase (YARS) gene. Issue 1 (15th September 2016)

Authors:
Nowaczyk, Małgorzata J. M.; Huang, Lijia; Tarnopolsky, Mark; Schwartzentruber, Jeremy; Majewski, Jacek; Bulman, Dennis E.; Hartley, Taila; Boycott, Kym M.
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 1(2017)
Page Start:
126
Record Type:
Journal Article
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3. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Issue 1 (24th October 2020)

Authors:
Dyment, David A.; O'Donnell‐Luria, Anne; Agrawal, Pankaj B.; Coban Akdemir, Zeynep; Aleck, Kyrieckos A.; Antaki, Danny; Al Sharhan, Hind; Au, Ping‐Yee B.; Aydin, Hatip; Beggs, Alan H.; Bilguvar, Kaya; Boerwinkle, Eric; Brand, Harrison; Brownstein, Catherine A.; Buyske, Steve; Chodirker, Bernard; ...
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 1(2021)
Page Start:
119
Record Type:
Journal Article
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4. Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort. Issue 7 (9th May 2017)

Authors:
Malam, Faheem; Hartley, Taila; Gillespie, Meredith K.; Armour, Christine M.; Bariciak, Erika; Graham, Gail E.; Nikkel, Sarah M.; Richer, Julie; Sawyer, Sarah L.; Boycott, Kym M.; Dyment, David A.
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 7(2017)
Page Start:
1839
Record Type:
Journal Article
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5. Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data. Issue 3 (29th November 2022)

Authors:
Hartley, Taila; Soubry, Élisabeth; Acker, Meryl; Osmond, Matthew; Couse, Madeline; Gillespie, Meredith K.; Ito, Yoko; Marshall, Aren E.; Lemire, Gabrielle; Huang, Lijia; Chisholm, Caitlin; Eaton, Alison J.; Price, E. Magda; Dowling, James J.; Ramani, Arun K.; Mendoza‐Londono, Roberto; Costain, Gr...
Journal:
Clinical genetics
Issue:
Volume 103:Issue 3(2023)
Page Start:
288
Record Type:
Journal Article
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6. Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy. Issue 8 (29th September 2020)

Authors:
Gauquelin, Laurence; Hartley, Taila; Tarnopolsky, Mark; Dyment, David A.; Brais, Bernard; Geraghty, Michael T.; Tétreault, Martine; Ahmed, Sohnee; Rojas, Samantha; Choquet, Karine; Majewski, Jacek; Bernier, François; Innes, Allan Micheil; Rouleau, Guy; Suchowersky, Oksana; Boycott, Kym M.; Yoon, ...
Journal:
Movement disorders clinical practice
Issue:
Volume 7:Issue 8(2020)
Page Start:
940
Record Type:
Journal Article
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7. Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists. Issue 10 (20th September 2021)

Authors:
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
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 10(2022)
Page Start:
931
Record Type:
Journal Article
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9. Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit. Issue 7 (16th July 2018)

Authors:
Kernohan, Kristin D.; Hartley, Taila; Naumenko, Sergey; Armour, Christine M.; Graham, Gail E.; Nikkel, Sarah M.; Lines, Matthew; Geraghty, Michael T.; Richer, Julie; Mears, Wendy; Boycott, Kym M.; Dyment, David A.
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 7(2018)
Page Start:
1688
Record Type:
Journal Article
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10. Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature. Issue 6 (3rd August 2020)

Authors:
Johnstone, Devon L.; Nguyen, Thi Tuyet Mai; Zambonin, Jessica; Kernohan, Kristin D.; St‐Denis, Anik; Baratang, Nissan V.; Hartley, Taila; Geraghty, Michael T.; Richer, Julie; Majewski, Jacek; Bareke, Eric; Guerin, Andrea; Pendziwiat, Manuela; Pena, Loren D. M.; Braakman, Hilde M. H.; Gripp, Karen...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 6(2020)
Page Start:
1321
Record Type:
Journal Article
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