Detalhe da pesquisa
1.
Whole-exome sequencing of 14 389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors.
Hum Mol Genet
; 31(18): 3120-3132, 2022 09 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35552711
2.
Multi-source data approach for personalized outcome prediction in lung cancer screening: update from the NELSON trial.
Eur J Epidemiol
; 38(4): 445-454, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36943671
3.
Donor lamella thickness after ultrathin Descemet stripping automated endothelial keratoplasty and its relation to postoperative visual acuity and pre-operative lamella measures.
BMC Ophthalmol
; 23(1): 265, 2023 Jun 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37308898
4.
Coronary Artery Calcium Score and Polygenic Risk Score for the Prediction of Coronary Heart Disease Events.
JAMA
; 329(20): 1768-1777, 2023 05 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37219552
5.
Identification of Side Chain Oxidized Sterols as Novel Liver X Receptor Agonists with Therapeutic Potential in the Treatment of Cardiovascular and Neurodegenerative Diseases.
Int J Mol Sci
; 24(2)2023 Jan 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36674804
6.
Somatic TARDBP variants as a cause of semantic dementia.
Brain
; 143(12): 3827-3841, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33155043
7.
The Genetics of Atypical Femur Fractures-a Systematic Review.
Curr Osteoporos Rep
; 19(2): 123-130, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33587247
8.
Molecular Pathways Involved in Frontotemporal Lobar Degeneration with TDP-43 Proteinopathy: What Can We Learn from Proteomics?
Int J Mol Sci
; 22(19)2021 Sep 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34638637
9.
Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time.
Genet Med
; 22(11): 1812-1820, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32665702
10.
Validation of the BOADICEA model and a 313-variant polygenic risk score for breast cancer risk prediction in a Dutch prospective cohort.
Genet Med
; 22(11): 1803-1811, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32624571
11.
Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD.
Acta Neuropathol
; 137(6): 879-899, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30739198
12.
A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers.
Brain
; 141(10): 2895-2907, 2018 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30252044
13.
Novel Genetic Variants for Cartilage Thickness and Hip Osteoarthritis.
PLoS Genet
; 12(10): e1006260, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27701424
14.
A systematic analysis highlights multiple long non-coding RNAs associated with cardiometabolic disorders.
J Hum Genet
; 63(4): 431-446, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29382920
15.
Whole-Exome Sequencing in Age-Related Macular Degeneration Identifies Rare Variants in COL8A1, a Component of Bruch's Membrane.
Ophthalmology
; 125(9): 1433-1443, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29706360
16.
Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease.
Brain
; 140(12): 3191-3203, 2017 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29140481
17.
A Randomized Multicenter Clinical Trial of Ultrathin Descemet Stripping Automated Endothelial Keratoplasty (DSAEK) versus DSAEK.
Ophthalmology
; 123(11): 2276-2284, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27659544
18.
Distinctive pattern of temporal atrophy in patients with frontotemporal dementia and the I383V variant in TARDBP.
J Neurol Neurosurg Psychiatry
; 92(7): 787-789, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33452055
19.
PLD3 variants in population studies.
Nature
; 520(7545): E2-3, 2015 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25832410
20.
Clinical presentation and morbidity of contact lens-associated microbial keratitis: a retrospective study.
Graefes Arch Clin Exp Ophthalmol
; 252(2): 299-306, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24281783