Detalhe da pesquisa
1.
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.
Cell
; 180(3): 568-584.e23, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31981491
2.
Nuclear RNA catabolism controls endogenous retroviruses, gene expression asymmetry, and dedifferentiation.
Mol Cell
; 83(23): 4255-4271.e9, 2023 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37995687
3.
Clonally expanded CD8 T cells characterize amyotrophic lateral sclerosis-4.
Nature
; 606(7916): 945-952, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35732742
4.
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
5.
Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype.
Am J Hum Genet
; 107(3): 555-563, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32758449
6.
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.
Genet Med
; 25(11): 100922, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37403762
7.
The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP.
Cell
; 134(6): 1042-54, 2008 Sep 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-18805096
8.
Author Correction: Clonally expanded CD8 T cells characterize amyotrophic lateral sclerosis-4.
Nature
; 608(7924): E34, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35945277
9.
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis.
J Med Genet
; 59(2): 170-179, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33323470
10.
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review.
Am J Med Genet A
; 185(6): 1712-1720, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33675273
11.
KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity.
Int J Mol Sci
; 22(11)2021 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34199759
12.
Synaptic, transcriptional and chromatin genes disrupted in autism.
Nature
; 515(7526): 209-15, 2014 Nov 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-25363760
13.
Deletion of the KH1 Domain of Fmr1 Leads to Transcriptional Alterations and Attentional Deficits in Rats.
Cereb Cortex
; 29(5): 2228-2244, 2019 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30877790
14.
Cohort profile: Epidemiology and Genetics of Obsessive-compulsive disorder and chronic tic disorders in Sweden (EGOS).
Soc Psychiatry Psychiatr Epidemiol
; 55(10): 1383-1393, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31907560
15.
Genetics and genomics of autism spectrum disorder: embracing complexity.
Hum Mol Genet
; 24(R1): R24-31, 2015 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26188008
16.
Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis.
Hum Mol Genet
; 24(14): 4006-23, 2015 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25882707
17.
Autism spectrum disorder: neuropathology and animal models.
Acta Neuropathol
; 134(4): 537-566, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28584888
18.
Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism.
PLoS Genet
; 10(12): e1004729, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25502226
19.
FXR2P Exerts a Positive Translational Control and Is Required for the Activity-Dependent Increase of PSD95 Expression.
J Neurosci
; 35(25): 9402-8, 2015 Jun 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-26109663
20.
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Am J Hum Genet
; 93(4): 607-19, 2013 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24094742