Detalhe da pesquisa
1.
Posttranscriptional Regulation of the Human LDL Receptor by the U2-Spliceosome.
Circ Res
; 130(1): 80-95, 2022 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34809444
2.
Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors.
J Pathol
; 255(2): 202-211, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34231212
3.
Minimal residual disease (MRD) detection in acute lymphoblastic leukaemia based on fusion genes and genomic deletions: towards MRD for all.
Br J Haematol
; 194(5): 888-892, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34337744
4.
A common variant in CCDC93 protects against myocardial infarction and cardiovascular mortality by regulating endosomal trafficking of low-density lipoprotein receptor.
Eur Heart J
; 41(9): 1040-1053, 2020 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31630160
5.
Genetics, Lifestyle, and Low-Density Lipoprotein Cholesterol in Young and Apparently Healthy Women.
Circulation
; 137(8): 820-831, 2018 02 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-29459468
6.
NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing.
BMC Bioinformatics
; 19(1): 531, 2018 Dec 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-30558531
7.
CoNVaDING: Single Exon Variation Detection in Targeted NGS Data.
Hum Mutat
; 37(5): 457-64, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26864275
8.
Deleterious alleles in the human genome are on average younger than neutral alleles of the same frequency.
PLoS Genet
; 9(2): e1003301, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23468643
9.
Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.
Ann Neurol
; 72(6): 870-80, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23280838
10.
Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic Characterization.
J Clin Oncol
; 40(17): 1892-1902, 2022 06 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35230882
11.
Implementation of paediatric precision oncology into clinical practice: The Individualized Therapies for Children with cancer program 'iTHER'.
Eur J Cancer
; 175: 311-325, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36182817
12.
Feasibility of predicting allele specific expression from DNA sequencing using machine learning.
Sci Rep
; 11(1): 10606, 2021 05 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34012022
13.
A pipeline-friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literature.
Adv Genet (Hoboken)
; 1(1): e10023, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36619248
14.
Author Correction: Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps.
Nat Genet
; 50(12): 1752, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30390057
15.
Identification of context-dependent expression quantitative trait loci in whole blood.
Nat Genet
; 49(1): 139-145, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27918533
16.
Disease variants alter transcription factor levels and methylation of their binding sites.
Nat Genet
; 49(1): 131-138, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27918535
17.
Meta-GWAS and Meta-Analysis of Exome Array Studies Do Not Reveal Genetic Determinants of Serum Hepcidin.
PLoS One
; 11(11): e0166628, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27846281
18.
A high-quality human reference panel reveals the complexity and distribution of genomic structural variants.
Nat Commun
; 7: 12989, 2016 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27708267
19.
Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps.
Nat Genet
; 48(11): 1303-1312, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27668658
20.
Molgenis-impute: imputation pipeline in a box.
BMC Res Notes
; 8: 359, 2015 Aug 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-26286716