Detalhe da pesquisa
1.
A cross-disorder dosage sensitivity map of the human genome.
Cell
; 185(16): 3041-3055.e25, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35917817
2.
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.
Cell
; 149(3): 525-37, 2012 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-22521361
3.
Posttranscriptional regulation of FAN1 by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington's disease.
Proc Natl Acad Sci U S A
; 121(16): e2322924121, 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38607933
4.
A Cdk5-derived peptide inhibits Cdk5/p25 activity and improves neurodegenerative phenotypes.
Proc Natl Acad Sci U S A
; 120(16): e2217864120, 2023 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37043533
5.
Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models.
Am J Hum Genet
; 109(11): 2049-2067, 2022 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36283406
6.
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models.
Am J Hum Genet
; 109(10): 1789-1813, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36152629
7.
Genetic modifiers of Huntington disease differentially influence motor and cognitive domains.
Am J Hum Genet
; 109(5): 885-899, 2022 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35325614
8.
Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin.
Am J Hum Genet
; 108(11): 2145-2158, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34672987
9.
Haplotype-specific MAPK3 expression in 16p11.2 deletion contributes to variable neurodevelopment.
Brain
; 146(8): 3347-3363, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36869767
10.
CHD8 suppression impacts on histone H3 lysine 36 trimethylation and alters RNA alternative splicing.
Nucleic Acids Res
; 50(22): 12809-12828, 2022 12 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36537238
11.
Huntington's disease: nearly four decades of human molecular genetics.
Hum Mol Genet
; 30(R2): R254-R263, 2021 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34169318
12.
Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs.
Hum Mol Genet
; 30(3-4): 135-148, 2021 04 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33432339
13.
Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects.
Am J Hum Genet
; 107(1): 96-110, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32589923
14.
mTOR kinase inhibition disrupts neuregulin 1-ERBB3 autocrine signaling and sensitizes NF2-deficient meningioma cellular models to IGF1R inhibition.
J Biol Chem
; 296: 100157, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33273014
15.
Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-out.
Hum Mol Genet
; 29(18): 3044-3053, 2020 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32876667
16.
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models.
Am J Hum Genet
; 111(3): 619, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38458168
17.
Hypomorphic mutation of the mouse Huntington's disease gene orthologue.
PLoS Genet
; 15(3): e1007765, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30897080
18.
Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase.
Am J Hum Genet
; 103(3): 349-357, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30122542
19.
CNV profiles of Chinese pediatric patients with developmental disorders.
Genet Med
; 23(4): 669-678, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33402738
20.
Population-specific genetic modification of Huntington's disease in Venezuela.
PLoS Genet
; 14(5): e1007274, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29750799