Detalhe da pesquisa
1.
Genomic architecture of autism from comprehensive whole-genome sequence annotation.
Cell
; 185(23): 4409-4427.e18, 2022 11 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36368308
2.
Gene copy number variation and pediatric mental health/neurodevelopment in a general population.
Hum Mol Genet
; 32(15): 2411-2421, 2023 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37154571
3.
OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome.
Am J Hum Genet
; 102(2): 278-295, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29395074
4.
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Genet Med
; 20(4): 435-443, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28771251
5.
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
6.
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Hum Mol Genet
; 23(10): 2752-68, 2014 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24381304
7.
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
8.
The genetic diversity of Epstein-Barr virus in the setting of transplantation relative to non-transplant settings: A feasibility study.
Pediatr Transplant
; 20(1): 124-9, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26578436
9.
MicroRNA Expression during Bovine Oocyte Maturation and Fertilization.
Int J Mol Sci
; 17(3): 396, 2016 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-26999121
10.
Estimating the proportion of nonsense variants undergoing the newly described phenomenon of manufactured splice rescue.
Eur J Hum Genet
; 32(2): 238-242, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38012313
11.
Genome-wide enhancer-associated tandem repeats are expanded in cardiomyopathy.
EBioMedicine
; 101: 105027, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38418263
12.
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.
Nat Genet
; 56(4): 585-594, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38553553
13.
A New Sturgeon Herpesvirus from Juvenile Lake Sturgeon Acipenser fulvescens Displaying Epithelial Skin Lesions.
Pathogens
; 12(9)2023 Aug 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37764923
14.
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder.
Nat Commun
; 13(1): 6463, 2022 10 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36309498
15.
Bovine neonate is deficient in innate immunity at birth.
Mol Immunol
; 133: 101-109, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33640760
16.
Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot.
Circ Genom Precis Med
; 14(4): e003410, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34328347
17.
Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences.
Front Genet
; 11: 957, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33110418
18.
Using Next-Generation Sequencing Transcriptomics To Determine Markers of Post-traumatic Symptoms: Preliminary Findings from a Post-deployment Cohort of Soldiers.
G3 (Bethesda)
; 9(2): 463-471, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30622122
19.
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
Nat Neurosci
; 20(4): 602-611, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28263302
20.
Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay.
Sci Rep
; 6: 28663, 2016 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27363808