Detalhe da pesquisa
1.
Insights into the mechanisms and structure of breakage-fusion-bridge cycles in cervical cancer using long-read sequencing.
Am J Hum Genet
; 111(3): 544-561, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38307027
2.
Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation.
Nat Methods
; 20(10): 1483-1492, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37710018
3.
Genome-Wide Analysis of Structural Variants in Parkinson Disease.
Ann Neurol
; 93(5): 1012-1022, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36695634
4.
Large-scale rare variant burden testing in Parkinson's disease.
Brain
; 146(11): 4622-4632, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37348876
5.
The Role of Structural Variants in the Genetic Architecture of Parkinson's Disease.
Int J Mol Sci
; 25(9)2024 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38732020
6.
Long-Read Sequencing Resolves a Complex Structural Variant in PRKN Parkinson's Disease.
Mov Disord
; 38(12): 2249-2257, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37926948
7.
Letter to the editor regarding "TGM6 variants in Parkinson's disease: clinical findings and functional evidence".
J Integr Neurosci
; 19(4): 735-737, 2020 12 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33378849
8.
Genetic Risk Profiling in Parkinson's Disease and Utilizing Genetics to Gain Insight into Disease-Related Biological Pathways.
Int J Mol Sci
; 21(19)2020 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33020390
9.
A SINE-VNTR-Alu in the LRIG2 Promoter Is Associated with Gene Expression at the Locus.
Int J Mol Sci
; 21(22)2020 Nov 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33187279
10.
The Role of SINE-VNTR-Alu (SVA) Retrotransposons in Shaping the Human Genome.
Int J Mol Sci
; 20(23)2019 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31783611
11.
Profiling the NOTCH2NLC GGC Repeat Expansion in Parkinson's Disease in the European Population.
Mov Disord
; 37(10): 2161-2162, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35866887
12.
Assessing methylation detection for primary human tissue using Nanopore sequencing.
bioRxiv
; 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38464144
13.
A SINE-VNTR-Alu at the LRIG2 locus is associated with proximal and distal gene expression in CRISPR and population models.
Sci Rep
; 14(1): 792, 2024 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38191889
14.
Long-read sequencing unravels the complexity of structural variants in PRKN in two individuals with early-onset Parkinson's disease.
medRxiv
; 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38746197
15.
Exploring the genetic and genomic connection underlying neurodegeneration with brain iron accumulation and the risk for Parkinson's disease.
NPJ Parkinsons Dis
; 9(1): 54, 2023 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37024536
16.
Long-read sequencing resolves a complex structural variant in PRKN Parkinson's disease.
medRxiv
; 2023 Aug 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37790330
17.
Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation.
bioRxiv
; 2023 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36711673
18.
The Foundational Data Initiative for Parkinson Disease: Enabling efficient translation from genetic maps to mechanism.
Cell Genom
; 3(3): 100261, 2023 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36950378
19.
Genome-wide Association Identifies Novel Etiological Insights Associated with Parkinson's Disease in African and African Admixed Populations.
medRxiv
; 2023 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37398408
20.
Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study.
Lancet Neurol
; 22(11): 1015-1025, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37633302