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.
Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature.
Am J Med Genet A
; 194(3): e63455, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37921537
3.
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
Genet Med
; 25(11): 100950, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37551667
4.
Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia.
Am J Med Genet A
; 185(10): 3005-3011, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34145744
5.
RNA sequencing to support intronic variant interpretation: A case report of TRAPPC12-related disorder.
Am J Med Genet A
; 191(6): 1664-1668, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36995918
6.
Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1.
J Hum Genet
; 62(6): 661-663, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28228640
7.
A pilot eConsultation service in Eastern Ontario: bridging clinical genetics and primary care.
Eur J Hum Genet
; 27(7): 1026-1032, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30778171
8.
A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC).
Fam Cancer
; 17(4): 615-620, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29423582