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.
A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis.
Brain
; 146(8): 3513-3527, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36917474
4.
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
Am J Hum Genet
; 107(2): 352-363, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32693025
5.
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
6.
Scope of coverage of medical genetics and genomics in pre-clerkship programs of Canadian faculties of medicine: A curriculum analysis.
Am J Med Genet A
; 191(1): 13-21, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36164991
7.
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
Brain
; 145(9): 3308-3327, 2022 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35851598
8.
Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration.
J Med Genet
; 59(3): 262-269, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33397746
9.
Novel FGF9 variant contributes to multiple synostoses syndrome 3.
Am J Med Genet A
; 188(7): 2162-2167, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35316564
10.
Bilateral severe microphthalmia in a neonate with trisomy 8 mosaicism: A new finding.
Am J Med Genet A
; 185(2): 534-538, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33179440
11.
Polycystic Ovary Syndrome and Incidental Diagnosis of Mosaic Turner Syndrome.
J Obstet Gynaecol Can
; 43(6): 756-759, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33158769
12.
Exome sequencing identifies de novo splicing variant in XRCC6 in sporadic case of autism.
J Hum Genet
; 65(3): 287-296, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31827253
13.
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.
J Inherit Metab Dis
; 43(6): 1321-1332, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32588908
14.
Liver transplantation for Gaucher disease presenting as neonatal cholestasis: Case report and literature review.
Pediatr Transplant
; 24(4): e13718, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32324335
15.
Ensuring timely genetic diagnosis in adults.
CMAJ
; 195(11): E413-E414, 2023 03 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37072235
16.
Accélérer l'obtention d'un diagnostic génétique chez l'adulte.
CMAJ
; 195(22): E802-E803, 2023 06 05.
Artigo
em Francês
| MEDLINE | ID: mdl-37277127
17.
Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome.
Am J Med Genet A
; 173(11): 3082-3086, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28980384
18.
HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia.
Am J Med Genet A
; 173(11): 3070-3074, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28898547
19.
Triplication of 16p12.1p12.3 associated with developmental and growth delay and distinctive facial features.
Am J Med Genet A
; 170(3): 712-6, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26647099
20.
Expanding the clinical spectrum of ocular anomalies in Noonan syndrome: Axenfeld-anomaly in a child with PTPN11 mutation.
Am J Med Genet A
; 167A(2): 403-6, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25425531