Detalhe da pesquisa
1.
Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.
J Med Genet
; 59(6): 571-578, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33875564
2.
Identification of high-impact gene-drug pairs for pharmacogenetic testing in Alberta, Canada.
Pharmacogenet Genomics
; 31(2): 29-39, 2021 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32826605
3.
MITO-FIND: A study in 390 patients to determine a diagnostic strategy for mitochondrial disease.
Mol Genet Metab
; 131(1-2): 66-82, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32980267
4.
CCMG practice guideline: laboratory guidelines for next-generation sequencing.
J Med Genet
; 56(12): 792-800, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31300550
5.
The novel p.Ser263Phe mutation in the human high-affinity choline transporter 1 (CHT1/SLC5A7) causes a lethal form of fetal akinesia syndrome.
Hum Mutat
; 40(10): 1676-1683, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31299140
6.
Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).
Genet Med
; 20(3): 294-302, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28726806
7.
Plasma-derived cell-free mitochondrial DNA: A novel non-invasive methodology to identify mitochondrial DNA haplogroups in humans.
Mol Genet Metab
; 125(4): 332-337, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30361042
8.
Assessing the cost of implementing the 2011 Society of Obstetricians and Gynecologists of Canada and Canadian College of Medical Genetics practice guidelines on the detection of fetal aneuploidies.
Prenat Diagn
; 37(9): 916-923, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28688121
9.
The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.
J Med Genet
; 52(7): 431-7, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25951830
10.
EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer.
Eur J Hum Genet
; 32(5): 479-488, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38443545
11.
Alberta Spinal Muscular Atrophy Newborn Screening-Results from Year 1 Pilot Project.
Int J Neonatal Screen
; 9(3)2023 Jul 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37606479
12.
Mitochondrial Replacement Therapy: The Road to the Clinic in Canada.
J Obstet Gynaecol Can
; 39(10): 916-918, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28733061
13.
Defining the role of laboratory genetic counselor.
J Genet Couns
; 21(4): 605-11, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22075756
14.
Retrospective testing of respiratory specimens for COVID-19 to assess for earlier SARS-CoV-2 infections in Alberta, Canada.
J Assoc Med Microbiol Infect Dis Can
; 6(1): 10-15, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36340216
15.
Methodology for clinical genotyping of CYP2D6 and CYP2C19.
Transl Psychiatry
; 11(1): 596, 2021 11 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34811360
16.
Newborn Screening: Current Status in Alberta, Canada.
Int J Neonatal Screen
; 5(4): 37, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33072996
17.
Hybrid gel electrophoresis using skin fibroblasts to aid in diagnosing mitochondrial disease.
Neurol Genet
; 5(3): e336, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31192304
18.
Correction: Methodology for clinical genotyping of CYP2D6 and CYP2C19.
Transl Psychiatry
; 12(1): 94, 2022 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35260547
19.
Discrepant HIV results resolved by human DNA testing.
J Clin Virol
; 61(2): 311-2, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25067806
20.
Exome sequencing identifies a novel variant in ACTC1 associated with familial atrial septal defect.
Can J Cardiol
; 30(2): 181-7, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24461919