Detalhe da pesquisa
1.
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.
Genet Med
; 26(2): 101012, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37924259
2.
Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.
Am J Med Genet A
; 194(3): e63466, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37949664
3.
The Transformative Potential of AI in Obstetrics and Gynaecology.
J Obstet Gynaecol Can
; 46(3): 102277, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37951574
4.
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.
Clin Genet
; 103(3): 288-300, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36353900
5.
Cytogenetic outcomes following a failed cell-free DNA screen: a population-based retrospective cohort study of 35,146 singleton pregnancies.
Am J Obstet Gynecol
; 229(2): 168.e1-168.e8, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36627072
6.
Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists.
J Med Genet
; 59(10): 931-937, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34544840
7.
Maternal-Newborn Health System Changes and Outcomes in Ontario, Canada, During Wave 1 of the COVID-19 Pandemic-A Retrospective Study.
J Obstet Gynaecol Can
; 44(6): 664-674, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34973435
8.
Porokeratotic eccrine ostial and dermal duct nevus associated with an 11 megabase 3p deletion.
Pediatr Dermatol
; 39(1): 107-111, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34929758
9.
Performance of a universal prenatal screening program incorporating cell-free fetal DNA analysis in Ontario, Canada.
CMAJ
; 193(30): E1156-E1163, 2021 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34344770
10.
Cutaneous granulomas as the presenting manifestation of Griscelli syndrome type 2.
Pediatr Dermatol
; 38(1): 194-197, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-32965739
11.
Application of exome sequencing for prenatal diagnosis: a rapid scoping review.
Genet Med
; 22(12): 1925-1934, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32747765
12.
Health-care practitioners' preferences for the return of secondary findings from next-generation sequencing: a discrete choice experiment.
Genet Med
; 22(12): 2011-2019, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32820245
13.
Genome-wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome.
Hum Mutat
; 40(10): 1684-1689, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31268616
14.
Correction: The value of diagnostic testing for parents of children with rare genetic diseases.
Genet Med
; 21(11): 2662, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31316168
15.
The value of diagnostic testing for parents of children with rare genetic diseases.
Genet Med
; 21(12): 2798-2806, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31239560
16.
NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypes.
Am J Med Genet A
; 179(5): 837-841, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30773799
17.
Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada.
J Med Genet
; 55(4): 215-221, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29496978
18.
Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome.
Am J Med Genet B Neuropsychiatr Genet
; 177(1): 101-109, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29152901
19.
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression.
Genet Med
; 19(1): 53-61, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27195815
20.
Variable developmental delays and characteristic facial features-A novel 7p22.3p22.2 microdeletion syndrome?
Am J Med Genet A
; 173(6): 1593-1600, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28440577