Detalhe da pesquisa
1.
Next generation of free? Points to consider when navigating sponsored genetic testing.
J Med Genet;
61(4): 299-304, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37932018
2.
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
3.
Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG).
J Med Genet;
60(6): 523-532, 2023 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36822643
4.
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
5.
The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results.
Am J Hum Genet;
104(4): 578-595, 2019 04 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30951675
6.
The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome.
Hum Mutat;
41(10): 1738-1744, 2020 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32643838
7.
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.
Am J Hum Genet;
100(1): 138-150, 2017 Jan 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28017370
8.
Renpenning syndrome in a female.
Am J Med Genet A;
182(3): 498-503, 2020 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31840929
9.
CCMG practice guideline: laboratory guidelines for next-generation sequencing.
J Med Genet;
56(12): 792-800, 2019 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31300550
10.
Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada.
J Med Genet;
55(4): 215-221, 2018 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29496978
11.
The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study.
Genet Med;
20(9): 1013-1021, 2018 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29300375
12.
The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.
J Med Genet;
52(7): 431-7, 2015 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25951830
13.
Choosing Wisely Canada: The Canadian College of Medical Geneticists' (CCMG) list of five items physicians and patients should question.
J Med Genet;
55(2): 86-88, 2018 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28822975
14.
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
Am J Hum Genet;
87(6): 905-14, 2010 Dec 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21129721
15.
Uniparental disomy: can SNP array data be used for diagnosis?
Genet Med;
14(8): 753-756, 2013.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22538256
16.
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
HGG Adv;
3(3): 100108, 2022 Jul 14.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35599849
17.
Is the diagnostic rate for the common subtypes of A1AT deficiency consistent across two Canadian Provinces?
Clin Biochem;
95: 84-88, 2021 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33964271
18.
Integration of genetic counsellors in genomic testing triage: Outcomes of a genomic consultation service in British Columbia, Canada.
Eur J Med Genet;
64(7): 104024, 2021 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32798762
19.
Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia.
Int J Neonatal Screen;
6(2): 46, 2020 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33073036
20.
NullCanada: A novel α1-antitrypsin allele with in cis variants Glu366Lys and Ile100Asn.
Clin Biochem;
79: 23-27, 2020 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32087139