Detalhe da pesquisa
1.
Trio RNA sequencing in a cohort of medically complex children.
Am J Hum Genet
; 110(5): 895-900, 2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36990084
2.
Interleukin-1 mediated hyperinflammation in XIAP-deficiency is associated with defective autophagy.
Blood
; 2024 May 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-38820590
3.
A framework for an evidence-based gene list relevant to autism spectrum disorder.
Nat Rev Genet
; 21(6): 367-376, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32317787
4.
Gene copy number variation and pediatric mental health/neurodevelopment in a general population.
Hum Mol Genet
; 32(15): 2411-2421, 2023 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37154571
5.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-38131126
6.
A Study on the Incidence and Prevalence of 5q Spinal Muscular Atrophy in Canada Using Multiple Data Sources.
Can J Neurol Sci
; : 1-12, 2024 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38178730
7.
Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
PLoS Genet
; 17(9): e1009809, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34547032
8.
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
PLoS Genet
; 17(7): e1009679, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34324492
9.
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Genet Med
; 25(12): 100947, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37534744
10.
Genome-wide tandem repeat expansions contribute to schizophrenia risk.
Mol Psychiatry
; 27(9): 3692-3698, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35546631
11.
Pharmacogenetic profiling via genome sequencing in children with medical complexity.
Pediatr Res
; 93(4): 905-910, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36167815
12.
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
13.
Hereditary Mucin Deficiency Caused by Biallelic Loss of Function of MUC5B.
Am J Respir Crit Care Med
; 205(7): 761-768, 2022 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35023825
14.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-35181971
15.
Trio genome sequencing for developmental delay and pediatric heart conditions: A comparative microcost analysis.
Genet Med
; 24(5): 1027-1036, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35219592
16.
Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non-syndromic retinitis pigmentosa.
Clin Genet
; 102(6): 524-529, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35916082
17.
Within-family influences on dimensional neurobehavioral traits in a high-risk genetic model.
Psychol Med
; 52(14): 3184-3192, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33443009
18.
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.
Mol Psychiatry
; 26(8): 4496-4510, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32015465
19.
Diagnostic yield of genome sequencing for prenatal diagnosis of fetal structural anomalies.
Prenat Diagn
; 42(7): 822-830, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35089622
20.
Genome sequencing among children with medical complexity: What constitutes value from parents' perspective?
J Genet Couns
; 31(2): 523-533, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34674352