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.
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
5.
A novel intronic variant in UBE3A identified by genome sequencing in a patient with an atypical presentation of Angelman syndrome.
Am J Med Genet A
; 182(9): 2145-2151, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32652832
6.
Copy number variation in fetal alcohol spectrum disorder.
Biochem Cell Biol
; 96(2): 161-166, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29533680
7.
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
8.
A high-resolution copy-number variation resource for clinical and population genetics.
Genet Med
; 17(9): 747-52, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25503493
9.
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
10.
Disruption of DDX53 coding sequence has limited impact on iPSC-derived human NGN2 neurons.
BMC Med Genomics
; 16(1): 5, 2023 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36635662
11.
Mutational Landscape of Autism Spectrum Disorder Brain Tissue.
Genes (Basel)
; 13(2)2022 01 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35205252
12.
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
13.
A large data resource of genomic copy number variation across neurodevelopmental disorders.
NPJ Genom Med
; 4: 26, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31602316
14.
Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes.
Neurol Genet
; 3(6): e199, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29264391
15.
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