Detalhe da pesquisa
1.
Finding the sweet spot: a qualitative study exploring patients' acceptability of chatbots in genetic service delivery.
Hum Genet
; 142(3): 321-330, 2023 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-36629921
2.
Genome screening, reporting, and genetic counseling for healthy populations.
Hum Genet
; 142(2): 181-192, 2023 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-36331656
3.
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
Inglês
| MEDLINE | ID: mdl-36353900
4.
Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.
J Med Genet
; 58(4): 275-283, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32581083
5.
The phenotypic spectrum of AMER1-related osteopathia striata with cranial sclerosis: The first Canadian cohort.
Am J Med Genet A
; 185(12): 3793-3803, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34414661
6.
Carnitine uptake defect due to a 5'UTR mutation in a pedigree with false positives and false negatives on Newborn screening.
Mol Genet Metab
; 129(3): 213-218, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31864849
7.
High Rates of Genetic Diagnosis in Psychiatric Patients with and without Neurodevelopmental Disorders: Toward Improved Genetic Diagnosis in Psychiatric Populations.
Can J Psychiatry
; 65(12): 865-873, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-32495635
8.
Ensuring timely genetic diagnosis in adults.
CMAJ
; 195(11): E413-E414, 2023 03 20.
Artigo
Inglês
| MEDLINE | ID: mdl-37072235
9.
Accélérer l'obtention d'un diagnostic génétique chez l'adulte.
CMAJ
; 195(22): E802-E803, 2023 06 05.
Artigo
Francês
| MEDLINE | ID: mdl-37277127
10.
Congenital Myopathy Due to Pathogenic Missense Variant in the MYBPC1 Gene.
Can J Neurol Sci
; : 1-3, 2023 Aug 14.
Artigo
Inglês
| MEDLINE | ID: mdl-37577974
11.
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
Hum Mutat
; 37(2): 148-54, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-26507355
12.
Hyperammonemic Encephalopathy Associated with Perampanel: Case Report and Discussion.
Can J Neurol Sci
; 48(3): 438-439, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32959734
13.
Psychiatric disorders in Ehlers-Danlos syndrome are frequent, diverse and strongly associated with pain.
Rheumatol Int
; 36(3): 341-8, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26433894
14.
Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature.
Genet Med
; 17(2): 149-57, 2015 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-25077648
15.
Practical guidelines for managing adults with 22q11.2 deletion syndrome.
Genet Med
; 17(8): 599-609, 2015 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-25569435
16.
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
J Clin Invest
; 134(1)2024 Jan 02.
Artigo
Inglês
| MEDLINE | ID: mdl-37962958
17.
PhenoTips: patient phenotyping software for clinical and research use.
Hum Mutat
; 34(8): 1057-65, 2013 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-23636887
18.
Characterizing Risk Factors for Hospitalization and Clinical Characteristics in a Cohort of COVID-19 Patients Enrolled in the GENCOV Study.
Viruses
; 15(8)2023 08 18.
Artigo
Inglês
| MEDLINE | ID: mdl-37632107
19.
Genome Reporting for Healthy Populations-Pipeline for Genomic Screening from the GENCOV COVID-19 Study.
Curr Protoc
; 2(10): e534, 2022 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-36205462
20.
Genetics Adviser: a protocol for a mixed-methods randomised controlled trial evaluating a digital platform for genetics service delivery.
BMJ Open
; 12(4): e060899, 2022 04 29.
Artigo
Inglês
| MEDLINE | ID: mdl-35487723