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.
Genome-wide detection of tandem DNA repeats that are expanded in autism.
Nature
; 586(7827): 80-86, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32717741
3.
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
4.
Rare tandem repeat expansions associate with genes involved in synaptic and neuronal signaling functions in schizophrenia.
Mol Psychiatry
; 28(1): 475-482, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36380236
5.
The Phenotypic variability of 16p11.2 distal BP2-BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samples.
J Med Genet
; 60(12): 1153-1160, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37290907
6.
Discovery of genomic variation across a generation.
Hum Mol Genet
; 30(R2): R174-R186, 2021 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34296264
7.
SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing.
Hum Genet
; 142(2): 201-216, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36376761
8.
Genome-wide tandem repeat expansions contribute to schizophrenia risk.
Mol Psychiatry
; 27(9): 3692-3698, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35546631
9.
Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease.
Am J Hum Genet
; 104(6): 1116-1126, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31104771
10.
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.
N Engl J Med
; 380(15): 1433-1441, 2019 04 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30970188
11.
A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data.
Am J Hum Genet
; 102(1): 142-155, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29304372
12.
Enrichment of loss-of-function and copy number variants in ventricular cardiomyopathy genes in 'lone' atrial fibrillation.
Europace
; 23(6): 844-850, 2021 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33682005
13.
Clinical and associated inflammatory biomarker features predictive of short-term outcomes in non-systemic juvenile idiopathic arthritis.
Rheumatology (Oxford)
; 59(9): 2402-2411, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31919503
14.
Associations of clinical and inflammatory biomarker clusters with juvenile idiopathic arthritis categories.
Rheumatology (Oxford)
; 59(5): 1066-1075, 2020 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32321162
15.
Impact of DNA source on genetic variant detection from human whole-genome sequencing data.
J Med Genet
; 56(12): 809-817, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31515274
16.
Transcriptome analysis of response to Plasmodiophora brassicae infection in the Arabidopsis shoot and root.
BMC Genomics
; 19(1): 23, 2018 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29304736
17.
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
18.
Case study: using sequence homology to identify putative phosphorylation sites in an evolutionarily distant species (honeybee).
Brief Bioinform
; 16(5): 820-9, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25380664
19.
Technological advances for interrogating the human kinome.
Biochem Soc Trans
; 45(1): 65-77, 2017 02 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28202660
20.
Characterization of the host response to pichinde virus infection in the Syrian golden hamster by species-specific kinome analysis.
Mol Cell Proteomics
; 14(3): 646-57, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25573744