Detalhe da pesquisa
1.
Antisense oligonucleotide rescue of CGG expansion-dependent FMR1 mis-splicing in fragile X syndrome restores FMRP.
Proc Natl Acad Sci U S A
; 120(27): e2302534120, 2023 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37364131
2.
Genome-wide association studies of brain imaging phenotypes in UK Biobank.
Nature
; 562(7726): 210-216, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30305740
3.
The UK Biobank resource with deep phenotyping and genomic data.
Nature
; 562(7726): 203-209, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30305743
4.
Optimization of Protocols for Detection of De Novo Protein Synthesis in Whole Blood Samples via Azide-Alkyne Cycloaddition.
J Proteome Res
; 19(9): 3856-3866, 2020 09 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32786687
5.
Phasing for medical sequencing using rare variants and large haplotype reference panels.
Bioinformatics
; 32(13): 1974-80, 2016 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27153703
6.
An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank.
Nat Neurosci
; 24(5): 737-745, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33875891
7.
A Unique Visual Attention Profile Associated With the FMR1 Premutation.
Front Genet
; 12: 591211, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33633778
8.
The Phenotypic Profile Associated With the FMR1 Premutation in Women: An Investigation of Clinical-Behavioral, Social-Cognitive, and Executive Abilities.
Front Psychiatry
; 12: 718485, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34421690
9.
Physiological regulation and social-emotional processing in female carriers of the FMR1 premutation.
Physiol Behav
; 214: 112746, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31765665
10.
A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments.
Brain Sci
; 10(10)2020 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33008014
11.
Language processing skills linked to FMR1 variation: A study of gaze-language coordination during rapid automatized naming among women with the FMR1 premutation.
PLoS One
; 14(7): e0219924, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31348790
12.
Altered steady state and activity-dependent de novo protein expression in fragile X syndrome.
Nat Commun
; 10(1): 1710, 2019 04 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30979884
13.
Identification of rfk-1, a Meiotic Driver Undergoing RNA Editing in Neurospora.
Genetics
; 212(1): 93-110, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30918007
14.
ASFMR1 splice variant: A predictor of fragile X-associated tremor/ataxia syndrome.
Neurol Genet
; 4(4): e246, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30065951
15.
Haplotype estimation for biobank-scale data sets.
Nat Genet
; 48(7): 817-20, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27270105
16.
A reference panel of 64,976 haplotypes for genotype imputation.
Nat Genet
; 48(10): 1279-83, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27548312
17.
A critical component of meiotic drive in Neurospora is located near a chromosome rearrangement.
Genetics
; 197(4): 1165-74, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24931406
18.
Efficient detection of unpaired DNA requires a member of the rad54-like family of homologous recombination proteins.
Genetics
; 198(3): 895-904, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25146971