Detalhe da pesquisa
1.
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Genet Med
; 25(12): 100947, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37534744
2.
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
Am J Hum Genet
; 93(2): 249-63, 2013 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-23849776
3.
Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome.
BMC Genomics
; 16 Suppl 1: S12, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25923536
4.
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.
JAMA
; 314(9): 895-903, 2015 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26325558
5.
Genome-Wide Sequencing Identified Rare Genetic Variants for Childhood-Onset Monogenic Lupus.
J Rheumatol
; 50(5): 671-675, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36379578
6.
Utility of SARS-CoV-2 Genomic Sequencing for Understanding Transmission and School Outbreaks.
Pediatr Infect Dis J
; 42(4): 324-331, 2023 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36795555
7.
Prevalence of Low-Frequency, Antiviral Resistance Variants in SARS-CoV-2 Isolates in Ontario, Canada, 2020-2023.
JAMA Netw Open
; 6(7): e2324963, 2023 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37477915
8.
The DataHarmonizer: a tool for faster data harmonization, validation, aggregation and analysis of pathogen genomics contextual information.
Microb Genom
; 9(1)2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36748616
9.
Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario.
CMAJ Open
; 10(2): E460-E465, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35609929
10.
A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder.
NPJ Genom Med
; 6(1): 91, 2021 Nov 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34737294
11.
Introduction to Transitions in the Life Course of Autism and Other Developmental Disabilities.
Pediatrics
; 141(Suppl 4): S267-S271, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29610406
12.
Stakeholder Perspectives on Research and Practice in Autism and Transition.
Pediatrics
; 141(Suppl 4): S293-S299, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29610410
13.
A National Research Agenda for the Transition of Youth With Autism.
Pediatrics
; 141(Suppl 4): S355-S361, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29610417
14.
The Diagnostic Odyssey of Autism Spectrum Disorder.
Pediatrics
; 141(Suppl 4): S272-S279, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29610407
15.
Identification of a novel MSH6 germline variant in a family with multiple gastro-intestinal malignancies by next generation sequencing.
Fam Cancer
; 14(1): 69-75, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25380764
16.
Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.
G3 (Bethesda)
; 5(8): 1775-81, 2015 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26139845
17.
Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder.
Nat Genet
; 46(7): 742-7, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24859339
18.
Intra- and interindividual epigenetic variation in human germ cells.
Am J Hum Genet
; 79(1): 67-84, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16773567