Detalhe da pesquisa
1.
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Brain
; 2023 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38038360
2.
Dysfunction of AMPA receptor GluA3 is associated with aggressive behavior in human.
Mol Psychiatry
; 27(10): 4092-4102, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35697757
3.
CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.
Genet Med
; 24(5): 1096-1107, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35063350
4.
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.
J Med Genet
; 57(5): 301-307, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30287593
5.
Genome-wide analysis of differential RNA editing in epilepsy.
Genome Res
; 27(3): 440-450, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28250018
6.
New evidence that biallelic loss of function in EEF1B2 gene leads to intellectual disability.
Clin Genet
; 97(4): 639-643, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31845318
7.
Decreased microglial Wnt/ß-catenin signalling drives microglial pro-inflammatory activation in the developing brain.
Brain
; 142(12): 3806-3833, 2019 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31665242
8.
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.
Am J Med Genet A
; 170(11): 2847-2859, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27605097
9.
WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.
J Med Genet
; 52(1): 61-70, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25411445
10.
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Mol Genet Genomic Med
; 12(1): e2363, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38284452
11.
Accelerated aging in bipolar disorders: An exploratory study of six epigenetic clocks.
Psychiatry Res
; 327: 115373, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37542794
12.
The molecular pathophysiology of mood disorders: From the analysis of single molecular layers to multi-omic integration.
Prog Neuropsychopharmacol Biol Psychiatry
; 116: 110520, 2022 06 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35104608
13.
Targeting Microglial Disturbances to Protect the Brain From Neurodevelopmental Disorders Associated With Prematurity.
J Neuropathol Exp Neurol
; 80(7): 634-648, 2021 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34363661
14.
Impact of Fetal Growth Restriction on the Neonatal Microglial Proteome in the Rat.
Nutrients
; 13(11)2021 Oct 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34835975
15.
Machine learning applications in drug development.
Comput Struct Biotechnol J
; 18: 241-252, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33489002
16.
Cell Metabolic Alterations due to Mcph1 Mutation in Microcephaly.
Cell Rep
; 31(2): 107506, 2020 04 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32294449
17.
Integrated systems-genetic analyses reveal a network target for delaying glioma progression.
Ann Clin Transl Neurol
; 6(9): 1616-1638, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31420939
18.
A systems-level framework for drug discovery identifies Csf1R as an anti-epileptic drug target.
Nat Commun
; 9(1): 3561, 2018 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30177815
19.
Reply to Pubpeer anonymous contributors: incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
Eur J Hum Genet
; 30(9): 998-999, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35606496
20.
Rare and common epilepsies converge on a shared gene regulatory network providing opportunities for novel antiepileptic drug discovery.
Genome Biol
; 17(1): 245, 2016 12 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-27955713