Taila Hartley
Taila Hartley
Verified email at cheo.on.ca
Title
Cited by
Cited by
Year
Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care
SL Sawyer, T Hartley, DA Dyment, CL Beaulieu, J Schwartzentruber, ...
Clinical genetics 89 (3), 275-284, 2016
2022016
International cooperation to enable the diagnosis of all rare genetic diseases
KM Boycott, A Rath, JX Chong, T Hartley, FS Alkuraya, G Baynam, ...
The American Journal of Human Genetics 100 (5), 695-705, 2017
1192017
The clinical application of genome-wide sequencing for monogenic diseases in Canada: position statement of the Canadian College of Medical Geneticists
K Boycott, T Hartley, S Adam, F Bernier, K Chong, BA Fernandez, ...
Journal of Medical Genetics 52 (7), 431-437, 2015
962015
Whole‐exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study
DA Dyment, M Tetreault, CL Beaulieu, T Hartley, P Ferreira, JW Chardon, ...
Clinical genetics 88 (1), 34-40, 2015
752015
PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases
OJ Buske, M Girdea, S Dumitriu, B Gallinger, T Hartley, H Trang, ...
Human mutation 36 (10), 931-940, 2015
722015
Endoplasmic reticulum stress response in an INS-1 pancreatic β-cell line with inducible expression of a folding-deficient proinsulin
T Hartley, M Siva, E Lai, T Teodoro, L Zhang, A Volchuk
BMC cell biology 11 (1), 59, 2010
682010
Emerging roles for the ubiquitin-proteasome system and autophagy in pancreatic β-cells
T Hartley, J Brumell, A Volchuk
American Journal of Physiology-Endocrinology and Metabolism 296 (1), E1-E10, 2009
652009
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy
KA Aldinger, SJ Mosca, M Tétreault, JC Dempsey, GE Ishak, T Hartley, ...
The American Journal of Human Genetics 95 (2), 227-234, 2014
562014
Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing
TB Balci, T Hartley, Y Xi, DA Dyment, CL Beaulieu, FP Bernier, L Dupuis, ...
Clinical genetics 92 (3), 281-289, 2017
392017
The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles
OJ Buske, F Schiettecatte, B Hutton, S Dumitriu, A Misyura, L Huang, ...
Human mutation 36 (10), 922-927, 2015
322015
Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability
A Stray-Pedersen, JM Cobben, TE Prescott, S Lee, C Cang, K Aranda, ...
The American Journal of Human Genetics 98 (1), 202-209, 2016
282016
Whole‐exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families
T Hartley, JD Wagner, J Warman‐Chardon, M Tétreault, L Brady, S Baker, ...
Clinical genetics 93 (2), 301-309, 2018
262018
Canadian College of Medical Geneticists. The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of …
K Boycott, T Hartley, S Adam, F Bernier, K Chong, BA Fernandez, ...
J Med Genet 52 (7), 431-437, 2015
252015
Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, Canada
T Hartley, L Cavallone, N Sabbaghian, R Silva-Smith, N Hamel, ...
Hereditary cancer in clinical practice 12 (1), 19, 2014
252014
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
MM Oud, P Tuijnenburg, M Hempel, N van Vlies, Z Ren, S Ferdinandusse, ...
The American Journal of Human Genetics 100 (2), 281-296, 2017
242017
Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy
DL Johnstone, TTM Nguyen, Y Murakami, KD Kernohan, M Tétreault, ...
Human molecular genetics 26 (9), 1706-1715, 2017
222017
Axons to exons: the molecular diagnosis of rare neurological diseases by next-generation sequencing
JW Chardon, C Beaulieu, T Hartley, KM Boycott, DA Dyment
Current neurology and neuroscience reports 15 (9), 64, 2015
212015
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
L Frésard, C Smail, NM Ferraro, NA Teran, X Li, KS Smith, D Bonner, ...
Nature medicine 25 (6), 911-919, 2019
192019
Biallelic mutations in LRRC56, encoding a protein associated with intraflagellar transport, cause mucociliary clearance and laterality defects
S Bonnefoy, CM Watson, KD Kernohan, M Lemos, S Hutchinson, ...
The American Journal of Human Genetics 103 (5), 727-739, 2018
182018
A novel multisystem disease associated with recessive mutations in the tyrosyl‐tRNA synthetase (YARS) gene
MJM Nowaczyk, L Huang, M Tarnopolsky, J Schwartzentruber, ...
American Journal of Medical Genetics Part A 173 (1), 126-134, 2017
172017
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