Detalhe da pesquisa
1.
Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish.
Proc Natl Acad Sci U S A
; 120(9): e2102569120, 2023 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36802443
2.
Mutations in the non-coding RNU4ATAC gene affect the homeostasis and function of the Integrator complex.
Nucleic Acids Res
; 51(2): 712-727, 2023 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36537210
3.
Tracking clusters of patients over time enables extracting information from medico-administrative databases.
J Biomed Inform
; 139: 104309, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36796599
4.
COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage.
Prenat Diagn
; 42(5): 601-610, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35150448
5.
Multiethnic genome-wide association study of differentiated thyroid cancer in the EPITHYR consortium.
Int J Cancer
; 148(12): 2935-2946, 2021 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33527407
6.
New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients.
RNA
; 25(9): 1130-1149, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31175170
7.
Novel Chronic Mouse Model of Cerebral Cavernous Malformations.
Stroke
; 51(4): 1272-1278, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31992178
8.
Strategies for phasing and imputation in a population isolate.
Genet Epidemiol
; 42(2): 201-213, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29319195
9.
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.
Am J Hum Genet
; 98(3): 500-513, 2016 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26942284
10.
Six Novel Loci Associated with Circulating VEGF Levels Identified by a Meta-analysis of Genome-Wide Association Studies.
PLoS Genet
; 12(2): e1005874, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26910538
11.
Genetic variants modulating CRIPTO serum levels identified by genome-wide association study in Cilento isolates.
PLoS Genet
; 11(1): e1004976, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25629528
12.
Relationship inference from the genetic data on parents or offspring: A comparative study.
Theor Popul Biol
; 107: 31-8, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26431644
13.
Clinical and demographic factors and outcome of amyotrophic lateral sclerosis in relation to population ancestral origin.
Eur J Epidemiol
; 31(3): 229-45, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26458931
14.
FSuite: exploiting inbreeding in dense SNP chip and exome data.
Bioinformatics
; 30(13): 1940-1, 2014 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24632498
15.
Inbreeding coefficient estimation with dense SNP data: comparison of strategies and application to HapMap III.
Hum Hered
; 77(1-4): 49-62, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25060269
16.
Does anonymous sperm donation increase the risk for unions between relatives and the incidence of autosomal recessive diseases due to consanguinity?
Hum Reprod
; 29(3): 394-9, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24345578
17.
An AluYa5 Insertion in the 3'UTR of COL4A1 and Cerebral Small Vessel Disease.
JAMA Netw Open
; 7(4): e247034, 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38630472
18.
Could inbred cases identified in GWAS data succeed in detecting rare recessive variants where affected sib-pairs have failed?
Hum Hered
; 74(3-4): 142-52, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23594492
19.
Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans.
Hum Mol Genet
; 19(10): 1998-2004, 2010 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20197411
20.
Tracking Temporal Clusters from Patient Networks.
Stud Health Technol Inform
; 294: 155-156, 2022 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35612047