Detalhe da pesquisa
1.
A mutation-independent approach for muscular dystrophy via upregulation of a modifier gene.
Nature
; 572(7767): 125-130, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31341277
2.
The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms.
Am J Hum Genet
; 106(2): 143-152, 2020 02 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32032513
3.
Pharmacogenetic profiling via genome sequencing in children with medical complexity.
Pediatr Res
; 93(4): 905-910, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36167815
4.
Urgent call for guidance supporting gene-based drug dosing in children and adolescents.
Paediatr Child Health
; 28(4): 205-245, 2023 Jul.
Artigo
Inglês, Inglês
| MEDLINE | ID: mdl-37287475
5.
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
Am J Hum Genet
; 104(3): 466-483, 2019 03 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30827497
6.
Modeling Niemann-Pick disease type C in a human haploid cell line allows for patient variant characterization and clinical interpretation.
Genome Res
; 29(12): 2010-2019, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31754021
7.
Genome sequencing among children with medical complexity: What constitutes value from parents' perspective?
J Genet Couns
; 31(2): 523-533, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34674352
8.
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Am J Hum Genet
; 100(2): 343-351, 2017 Feb 02.
Artigo
Inglês
| MEDLINE | ID: mdl-28132692
9.
Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy.
Genet Med
; 22(10): 1598-1605, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32461667
10.
P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye.
Hum Mol Genet
; 26(12): 2207-2217, 2017 06 15.
Artigo
Inglês
| MEDLINE | ID: mdl-28419360
11.
Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders.
Am J Hum Genet
; 98(1): 90-101, 2016 Jan 07.
Artigo
Inglês
| MEDLINE | ID: mdl-26686765
12.
Treating pediatric neuromuscular disorders: The future is now.
Am J Med Genet A
; 176(4): 804-841, 2018 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-28889642
13.
The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.
CMAJ
; 190(5): E126-E136, 2018 02 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29431110
14.
Outcome of Patients With Inherited Neurotransmitter Disorders.
Can J Neurol Sci
; 45(5): 571-576, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-30109838
15.
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
Am J Hum Genet
; 104(5): 1007, 2019 May 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31051109
16.
Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II.
Mol Genet Metab
; 120(3): 235-242, 2017 03.
Artigo
Inglês
| MEDLINE | ID: mdl-28122681
17.
Recommendations for the integration of genomics into clinical practice.
Genet Med
; 18(11): 1075-1084, 2016 11.
Artigo
Inglês
| MEDLINE | ID: mdl-27171546
18.
Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L.
J Pediatr
; 171: 313-6.e1-2, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26825290
19.
Genome sequencing as a diagnostic test.
CMAJ
; 193(42): E1626-E1629, 2021 10 25.
Artigo
Inglês
| MEDLINE | ID: mdl-34697096
20.
Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome.
BMC Genomics
; 16 Suppl 1: S12, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-25923536