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Taila Hartley
Taila Hartley
Bestätigte E-Mail-Adresse bei cheo.on.ca
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Jahr
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
4172016
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
3742017
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
2592019
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
2172015
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
1532018
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
1392015
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
1242019
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
1082015
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
1052017
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
972014
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, 1-18, 2010
862010
New diagnostic approaches for undiagnosed rare genetic diseases
T Hartley, G Lemire, KD Kernohan, HE Howley, DR Adams, KM Boycott
Annual review of genomics and human genetics 21, 351-372, 2020
832020
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
752009
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
662017
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
642017
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
FC Radio, K Pang, A Ciolfi, MA Levy, A Hernández-García, L Pedace, ...
The American Journal of Human Genetics 108 (3), 502-516, 2021
612021
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
612016
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
572016
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
572015
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
562018
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