Detalhe da pesquisa
1.
A chromatin-dependent role of the fragile X mental retardation protein FMRP in the DNA damage response.
Cell
; 157(4): 869-81, 2014 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-24813610
2.
Loss of function of OTUD7A in the schizophrenia- associated 15q13.3 deletion impairs synapse development and function in human neurons.
Am J Hum Genet
; 109(8): 1500-1519, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35931052
3.
Identification of PSMB5 as a genetic modifier of fragile X-associated tremor/ataxia syndrome.
Proc Natl Acad Sci U S A
; 119(22): e2118124119, 2022 05 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35617426
4.
Analysis of the genomic expression profile in trisomy 18: insight into possible genes involved in the associated phenotypes.
Hum Mol Genet
; 29(2): 238-247, 2020 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31813999
5.
Behavioral changes and growth deficits in a CRISPR engineered mouse model of the schizophrenia-associated 3q29 deletion.
Mol Psychiatry
; 26(3): 772-783, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30976085
6.
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.
Mol Psychiatry
; 26(8): 4496-4510, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32015465
7.
Voltage-Independent SK-Channel Dysfunction Causes Neuronal Hyperexcitability in the Hippocampus of Fmr1 Knock-Out Mice.
J Neurosci
; 39(1): 28-43, 2019 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30389838
8.
Partial FMRP expression is sufficient to normalize neuronal hyperactivity in Fragile X neurons.
Eur J Neurosci
; 51(10): 2143-2157, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31880363
9.
PEMapper and PECaller provide a simplified approach to whole-genome sequencing.
Proc Natl Acad Sci U S A
; 114(10): E1923-E1932, 2017 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28223510
10.
Reversible inhibition of PSD-95 mRNA translation by miR-125a, FMRP phosphorylation, and mGluR signaling.
Mol Cell
; 42(5): 673-88, 2011 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21658607
11.
Identification of consensus binding sites clarifies FMRP binding determinants.
Nucleic Acids Res
; 44(14): 6649-59, 2016 08 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-27378784
12.
A 3' untranslated region variant in FMR1 eliminates neuronal activity-dependent translation of FMRP by disrupting binding of the RNA-binding protein HuR.
Proc Natl Acad Sci U S A
; 112(47): E6553-61, 2015 Nov 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-26554012
13.
Independent role for presynaptic FMRP revealed by an FMR1 missense mutation associated with intellectual disability and seizures.
Proc Natl Acad Sci U S A
; 112(4): 949-56, 2015 Jan 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-25561520
14.
Human FMRP contains an integral tandem Agenet (Tudor) and KH motif in the amino terminal domain.
Hum Mol Genet
; 24(6): 1733-40, 2015 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25416280
15.
Unraveling the genetic architecture of copy number variants associated with schizophrenia and other neuropsychiatric disorders.
J Neurosci Res
; 95(5): 1144-1160, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27859486
16.
Analysis of FMRP mRNA target datasets reveals highly associated mRNAs mediated by G-quadruplex structures formed via clustered WGGA sequences.
Hum Mol Genet
; 23(20): 5479-91, 2014 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24876161
17.
Age-associated DNA methylation in pediatric populations.
Genome Res
; 22(4): 623-32, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22300631
18.
Reply to Plüss et al.: The strength of PEMapper/PECaller lies in unbiased calling using large sample sizes.
Proc Natl Acad Sci U S A
; 114(40): E8323, 2017 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28916730
19.
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
PLoS Genet
; 8(3): e1002559, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22412388
20.
Genome-wide association study of schizophrenia in Ashkenazi Jews.
Am J Med Genet B Neuropsychiatr Genet
; 168(8): 649-59, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26198764