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
3002016
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
2222017
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
1512015
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
1082019
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
1022015
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
852015
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
812014
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), 1-18, 2010
792010
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
752017
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
712009
ClinPred: prediction tool to identify disease-relevant nonsynonymous single-nucleotide variants
N Alirezaie, KD Kernohan, T Hartley, J Majewski, TD Hocking
The American Journal of Human Genetics 103 (4), 474-483, 2018
582018
A diagnosis for all rare genetic diseases: the horizon and the next frontiers
KM Boycott, T Hartley, LG Biesecker, RA Gibbs, AM Innes, O Riess, ...
Cell 177 (1), 32-37, 2019
512019
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
412017
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
402015
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
392018
A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy
C Simons, D Dyment, SJ Bent, J Crawford, M D’Hooghe, A Kohlschütter, ...
Brain 140 (12), 3105-3111, 2017
392017
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
392016
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), 1-8, 2015
372015
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
372015
Mandibulofacial dysostosis with microcephaly: mutation and database update
L Huang, MR Vanstone, T Hartley, M Osmond, N Barrowman, J Allanson, ...
Human mutation 37 (2), 148-154, 2016
362016
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