Detalhe da pesquisa
1.
Phase Separation as a Missing Mechanism for Interpretation of Disease Mutations.
Cell
; 183(7): 1742-1756, 2020 12 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33357399
2.
A framework for an evidence-based gene list relevant to autism spectrum disorder.
Nat Rev Genet
; 21(6): 367-376, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32317787
3.
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
4.
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
5.
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.
Hum Mol Genet
; 32(14): 2373-2385, 2023 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37195288
6.
Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome.
Mol Psychiatry
; 28(4): 1747-1769, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36604605
7.
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Brain
; 146(2): 534-548, 2023 02 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35979925
8.
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Brain
; 146(6): 2285-2297, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36477332
9.
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
10.
Discovery of genomic variation across a generation.
Hum Mol Genet
; 30(R2): R174-R186, 2021 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34296264
11.
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
12.
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.
Am J Hum Genet
; 106(5): 596-610, 2020 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32243864
13.
Environmental exposures associated with elevated risk for autism spectrum disorder may augment the burden of deleterious de novo mutations among probands.
Mol Psychiatry
; 27(1): 710-730, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34002022
14.
Genome-wide tandem repeat expansions contribute to schizophrenia risk.
Mol Psychiatry
; 27(9): 3692-3698, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35546631
15.
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
16.
Rare copy number variation in posttraumatic stress disorder.
Mol Psychiatry
; 27(12): 5062-5069, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36131047
17.
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
Am J Med Genet A
; 191(5): 1227-1239, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36751037
18.
Pharmacogenetic profiling via genome sequencing in children with medical complexity.
Pediatr Res
; 93(4): 905-910, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36167815
19.
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.
Hum Mutat
; 43(4): 461-470, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35094443
20.
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