Search details
1.
Integrated omics analyses clarifies ATRX copy number variant of uncertain significance.
J Hum Genet
; 69(2): 101-105, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-37904029
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.
Article
in English
| MEDLINE | ID: mdl-37949664
3.
Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development.
Am J Med Genet A
; 194(5): e63522, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38131126
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.
Article
in English
| MEDLINE | ID: mdl-36353900
5.
Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery.
Hum Mutat
; 43(6): 800-811, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35181971
6.
Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation.
Mol Genet Metab
; 127(4): 368-372, 2019 08.
Article
in English
| MEDLINE | ID: mdl-31311714
7.
RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31.
Am J Med Genet A
; 194(4): e63485, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38050708
8.
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.
Article
in English
| MEDLINE | ID: mdl-36995918
9.
Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability.
BMC Genomics
; 18(1): 403, 2017 05 24.
Article
in English
| MEDLINE | ID: mdl-28539120
10.
RNA sequencing resolves novel DYNC2H1 variants causing short-rib thoracic dysplasia type 3: Case report.
Mol Genet Genomic Med
; 11(10): e2247, 2023 Oct.
Article
in English
| MEDLINE | ID: mdl-37489014
11.
Genome-Wide Sequencing Identified Rare Genetic Variants for Childhood-Onset Monogenic Lupus.
J Rheumatol
; 50(5): 671-675, 2023 05.
Article
in English
| MEDLINE | ID: mdl-36379578
12.
Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction.
Neurol Genet
; 9(5): e200088, 2023 Oct.
Article
in English
| MEDLINE | ID: mdl-38235364
13.
A common flanking variant is associated with enhanced meiotic stability of the FGF14 -SCA27B locus.
bioRxiv
; 2023 Jun 30.
Article
in English
| MEDLINE | ID: mdl-37425777
14.
Hemophagocytic Lymphohistiocytosis Gene Variants in Childhood-Onset Systemic Lupus Erythematosus With Macrophage Activation Syndrome.
J Rheumatol
; 49(10): 1146-1151, 2022 Oct.
Article
in English
| MEDLINE | ID: mdl-35649546
15.
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
HGG Adv
; 3(3): 100108, 2022 Jul 14.
Article
in English
| MEDLINE | ID: mdl-35599849
16.
KDM5A mutations identified in autism spectrum disorder using forward genetics.
Elife
; 92020 12 22.
Article
in English
| MEDLINE | ID: mdl-33350388
17.
Identifying, understanding, and correcting technical artifacts on the sex chromosomes in next-generation sequencing data.
Gigascience
; 8(7)2019 07 01.
Article
in English
| MEDLINE | ID: mdl-31289836
18.
An optical relay approach to very low cost hybrid polymer-complementary metal-oxide semiconductor electrophoresis instrumentation.
J Chromatogr A
; 1349: 122-8, 2014 Jul 04.
Article
in English
| MEDLINE | ID: mdl-24856905
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