Detalhe da pesquisa
1.
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
2.
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
Inglês
| MEDLINE | ID: mdl-33875564
3.
Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1.
Am J Med Genet A
; 179(7): 1325-1329, 2019 07.
Artigo
Inglês
| MEDLINE | ID: mdl-31074124
4.
Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.
J Med Genet
; 55(5): 316-321, 2018 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29599419
5.
Understanding genetic variants of uncertain significance.
Paediatr Child Health
; 27(1): 10-11, 2022 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-35273666
6.
Detection of slipped-DNAs at the trinucleotide repeats of the myotonic dystrophy type I disease locus in patient tissues.
PLoS Genet
; 9(12): e1003866, 2013.
Artigo
Inglês
| MEDLINE | ID: mdl-24367268
7.
Replacement of the myotonic dystrophy type 1 CTG repeat with 'non-CTG repeat' insertions in specific tissues.
J Med Genet
; 48(7): 438-43, 2011 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-21622935
8.
CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination.
PLoS Genet
; 4(11): e1000257, 2008 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-19008940
9.
Neural stem cells from protein tyrosine phosphatase sigma knockout mice generate an altered neuronal phenotype in culture.
BMC Neurosci
; 7: 50, 2006 Jun 19.
Artigo
Inglês
| MEDLINE | ID: mdl-16784531
10.
Illuminating CNS and cognitive issues in myotonic dystrophy: Workshop report.
Neuromuscul Disord
; 23(4): 370-4, 2013 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23453858