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.
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
4.
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
5.
Mutations in trpγ, the homologue of TRPC6 autism candidate gene, causes autism-like behavioral deficits in Drosophila.
Mol Psychiatry
; 27(8): 3328-3342, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35501408
6.
Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes.
Clin Genet
; 101(1): 134-141, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34664255
7.
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.
Hum Genomics
; 15(1): 68, 2021 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34802461
8.
RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes.
Mol Psychiatry
; 26(5): 1706-1718, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33597717
9.
Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype.
Genet Med
; 23(9): 1636-1647, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34145395
10.
A copy number variation map of the human genome.
Nat Rev Genet
; 16(3): 172-83, 2015 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-25645873
11.
Ancestry and frequency of genetic variants in the general population are confounders in the characterization of germline variants linked to cancer.
BMC Med Genet
; 21(1): 92, 2020 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32375678
12.
Refining critical regions in 15q24 microdeletion syndrome pertaining to autism.
Am J Med Genet B Neuropsychiatr Genet
; 183(4): 217-226, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31953991
13.
Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees.
Am J Med Genet B Neuropsychiatr Genet
; 183(5): 268-276, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32372567
14.
Copy number variation in fetal alcohol spectrum disorder.
Biochem Cell Biol
; 96(2): 161-166, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29533680
15.
De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy.
Genet Med
; 20(2): 172-180, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28771244
16.
Association of IMMP2L deletions with autism spectrum disorder: A trio family study and meta-analysis.
Am J Med Genet B Neuropsychiatr Genet
; 177(1): 93-100, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29152845
17.
A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome.
Am J Med Genet A
; 173(5): 1287-1293, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28371330
18.
Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing.
Am J Med Genet A
; 170(11): 3018-3022, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27531570
19.
Increased burden of rare protein-truncating variants in constrained, brain-specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder.
Genes Brain Behav
; 23(1): e12882, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38359179
20.
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