Detalhe da pesquisa
1.
Trio RNA sequencing in a cohort of medically complex children.
Am J Hum Genet
; 110(5): 895-900, 2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36990084
2.
Pharmacogenetic profiling via genome sequencing in children with medical complexity.
Pediatr Res
; 93(4): 905-910, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36167815
3.
An oligogenic case of severe neonatal thrombocytopenia and a purportedly benign variant in GFI1B requiring reinterpretation.
Platelets
; 34(1): 2237592, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37577973
4.
The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Preliminary evidence of validity and reliability.
Genet Med
; 24(2): 430-438, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906486
5.
Exome sequencing identifies PD-L2 as a potential predisposition gene for lymphoma.
Hematol Oncol
; 40(3): 475-478, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35613340
6.
Genome sequencing among children with medical complexity: What constitutes value from parents' perspective?
J Genet Couns
; 31(2): 523-533, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34674352
7.
The point-of-care use of a facial phenotyping tool in the genetics clinic: Enhancing diagnosis and education with machine learning.
Am J Med Genet A
; 185(4): 1151-1158, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33554457
8.
Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challenges.
Am J Med Genet A
; 185(10): 3129-3135, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34159711
9.
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases.
Hum Mutat
; 40(9): 1373-1391, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31322791
10.
De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome.
Genet Med
; 21(4): 1021-1026, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30293988
11.
Evidence for genetic anticipation in vonHippel-Lindau syndrome.
J Med Genet
; 55(6): 395-402, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29437867
12.
The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.
CMAJ
; 190(5): E126-E136, 2018 02 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29431110
13.
DICER1 syndrome: Approach to testing and management at a large pediatric tertiary care center.
Pediatr Blood Cancer
; 65(1)2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28960912
14.
Visualization and quantitative analysis of extrachromosomal telomere-repeat DNA in individual human cells by Halo-FISH.
Nucleic Acids Res
; 43(4): 2152-63, 2015 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-25662602
15.
Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency.
BMC Genomics
; 17(Suppl 9): 749, 2016 10 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-27766953
16.
Recommendations for the integration of genomics into clinical practice.
Genet Med
; 18(11): 1075-1084, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27171546
17.
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
18.
The genome clinic: a multidisciplinary approach to assessing the opportunities and challenges of integrating genomic analysis into clinical care.
Hum Mutat
; 35(5): 513-9, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24599881
19.
Metachronous neuroblastoma in an infant with germline translocation resulting in partial trisomy 2p: a role for ALK?
J Pediatr Hematol Oncol
; 36(3): e193-6, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24276038
20.
Human telomeric protein TRF2 associates with genomic double-strand breaks as an early response to DNA damage.
Nat Genet
; 37(2): 193-7, 2005 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-15665826