Detalhe da pesquisa
1.
Genome Sequencing for Cases Unsolved by Exome Sequencing: Identifying a Single-Exon Deletion in TBCK in a Case from 30 Years Ago.
Neuropediatrics
; 2024 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38547905
2.
Identification of Restless Legs Syndrome Genes by Mutational Load Analysis.
Ann Neurol
; 87(2): 184-193, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31788832
3.
Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome.
Am J Hum Genet
; 95(1): 85-95, 2014 Jul 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24995868
4.
Restless legs syndrome-associated intronic common variant in Meis1 alters enhancer function in the developing telencephalon.
Genome Res
; 24(4): 592-603, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24642863
5.
Phenotypic and genome-wide studies on dicarbonyls: major associations to glomerular filtration rate and gamma-glutamyltransferase activity.
EBioMedicine
; 101: 105007, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38354534
6.
Episignature analysis of moderate effects and mosaics.
Eur J Hum Genet
; 31(9): 1032-1039, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37365401
7.
ExomeChip-based rare variant association study in restless legs syndrome.
Sleep Med
; 94: 26-30, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35489115
8.
Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis.
Lancet Neurol
; 16(11): 898-907, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29029846
9.
Connecting Anxiety and Genomic Copy Number Variation: A Genome-Wide Analysis in CD-1 Mice.
PLoS One
; 10(5): e0128465, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26011321
10.
Using the MCF10A/MCF10CA1a Breast Cancer Progression Cell Line Model to Investigate the Effect of Active, Mutant Forms of EGFR in Breast Cancer Development and Treatment Using Gefitinib.
PLoS One
; 10(5): e0125232, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25969993