Detalhe da pesquisa
1.
A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.
Cell
; 177(1): 32-37, 2019 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30901545
2.
Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery.
Am J Hum Genet
; 109(11): 1947-1959, 2022 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36332610
3.
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies.
Am J Hum Genet
; 108(10): 2017-2023, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34587489
4.
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.
Am J Hum Genet
; 108(4): 749-756, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33743206
5.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Am J Hum Genet
; 108(3): 502-516, 2021 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33596411
6.
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
7.
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
8.
New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases.
Annu Rev Genomics Hum Genet
; 21: 351-372, 2020 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-32283948
9.
Exome and genome sequencing for rare genetic disease diagnosis: A scoping review and critical appraisal of clinical guidance documents produced by genetics professional organizations.
Genet Med
; 25(11): 100948, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37551668
10.
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
11.
The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience.
Am J Med Genet A
; 191(2): 338-347, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36331261
12.
Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists.
J Med Genet
; 59(10): 931-937, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34544840
13.
PhenomeCentral: 7 years of rare disease matchmaking.
Hum Mutat
; 43(6): 674-681, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35165961
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.
Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery: The 2-year experience of Care4Rare Canada.
Genet Med
; 24(1): 100-108, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906465
16.
The complexity of diagnosing rare disease: An organizing framework for outcomes research and health economics based on real-world evidence.
Genet Med
; 24(3): 694-702, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906497
17.
ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants.
Am J Hum Genet
; 103(4): 474-483, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30220433
18.
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.
Am J Hum Genet
; 103(1): 144-153, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29961568
19.
Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects.
Am J Hum Genet
; 103(5): 727-739, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30388400
20.
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
Am J Med Genet A
; 185(1): 119-133, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33098347