Tracy Stockley
Tracy Stockley
Genome Diagnostics University Health Network
Потвърден имейл адрес: uhn.ca
Заглавие
Позовавания
Позовавания
Година
Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith–Wiedemann syndrome
R Weksberg, C Shuman, O Caluseriu, AC Smith, YL Fei, J Nishikawa, ...
Human Molecular Genetics 11 (11), 1317-1325, 2002
3322002
Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis
GHB Maegawa, M Tropak, J Buttner, T Stockley, F Kok, JTR Clarke, ...
Journal of Biological Chemistry 282 (12), 9150-9161, 2007
1552007
The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported
GHB Maegawa, T Stockley, M Tropak, B Banwell, S Blaser, F Kok, ...
Pediatrics 118 (5), e1550-e1562, 2006
1492006
Molecular profiling of advanced solid tumors and patient outcomes with genotype-matched clinical trials: the Princess Margaret IMPACT/COMPACT trial
TL Stockley, AM Oza, HK Berman, NB Leighl, JJ Knox, FA Shepherd, ...
Genome medicine 8 (1), 1-12, 2016
1222016
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
1092015
Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease
C Auray-Blais, D Cyr, A Ntwari, ML West, J Cox-Brinkman, DG Bichet, ...
Molecular genetics and metabolism 93 (3), 331-340, 2008
992008
CHARGE and Kabuki syndromes: gene-specific DNA methylation signatures identify epigenetic mechanisms linking these clinically overlapping conditions
DT Butcher, C Cytrynbaum, AL Turinsky, MT Siu, M Inbar-Feigenberg, ...
The American Journal of Human Genetics 100 (5), 773-788, 2017
752017
A classification system for clinical relevance of somatic variants identified in molecular profiling of cancer
MA Sukhai, KJ Craddock, M Thomas, AR Hansen, T Zhang, L Siu, ...
Genetics in Medicine 18 (2), 128-136, 2016
722016
Auditory responses in cochlear implant users with and without GJB2 deafness
EJ Propst, BC Papsin, TL Stockley, RV Harrison, KA Gordon
The Laryngoscope 116 (2), 317-327, 2006
582006
Canavan disease: Carrier‐frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay
A Feigenbaum, R Moore, J Clarke, S Hewson, D Chitayat, PN Ray, ...
American Journal of Medical Genetics Part A 124 (2), 142-147, 2004
512004
15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes
A Noor, L Dupuis, K Mittal, AC Lionel, CR Marshall, SW Scherer, ...
Human mutation 36 (7), 689-693, 2015
502015
Strategy for comprehensive molecular testing for Duchenne and Becker muscular dystrophies
TL Stockley, S Akber, N Bulgin, PN Ray
Genetic testing 10 (4), 229-243, 2006
482006
Temporal Bone Imaging in GJB2 Deafness
EJ Propst, S Blaser, TL Stockley, RV Harrison, KA Gordon, BC Papsin
The Laryngoscope 116 (12), 2178-2186, 2006
432006
Novel duplication in glypican‐4 as an apparent cause of Simpson–Golabi–Behmel syndrome
J Waterson, TL Stockley, S Segal, M Golabi
American Journal of Medical Genetics Part A 152 (12), 3179-3181, 2010
412010
Whole-exome sequencing and targeted copy number analysis in primary ciliary dyskinesia
CR Marshall, SW Scherer, MA Zariwala, L Lau, TA Paton, T Stockley, ...
G3: Genes, Genomes, Genetics 5 (8), 1775-1781, 2015
382015
Ethnicity and mutations in GJB2 (connexin 26) and GJB6 (connexin 30) in a multi-cultural Canadian paediatric Cochlear Implant Program
EJ Propst, TL Stockley, KA Gordon, RV Harrison, BC Papsin
International journal of pediatric otorhinolaryngology 70 (3), 435-444, 2006
342006
Multiple effects of childhood deafness on cortical activity in children receiving bilateral cochlear implants simultaneously
KA Gordon, S Tanaka, DDE Wong, T Stockley, JD Ramsden, T Brown, ...
Clinical neurophysiology 122 (4), 823-833, 2011
332011
Impact of genomic alterations on outcomes in myelofibrosis patients undergoing JAK1/2 inhibitor therapy
JY Spiegel, C McNamara, JA Kennedy, T Panzarella, A Arruda, T Stockley, ...
Blood advances 1 (20), 1729-1738, 2017
272017
Comparison of next-generation sequencing panels and platforms for detection and verification of somatic tumor variants for clinical diagnostics
M Misyura, T Zhang, MA Sukhai, M Thomas, S Garg, S Kamel-Reid, ...
The Journal of Molecular Diagnostics 18 (6), 842-850, 2016
272016
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
272015
Системата не може да изпълни операцията сега. Опитайте отново по-късно.
Статии 1–20