Detalhe da pesquisa
1.
Lineage-Specific Genome Architecture Links Enhancers and Non-coding Disease Variants to Target Gene Promoters.
Cell
; 167(5): 1369-1384.e19, 2016 11 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-27863249
2.
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
Cell
; 167(5): 1415-1429.e19, 2016 11 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-27863252
3.
Whole-genome sequencing of patients with rare diseases in a national health system.
Nature
; 583(7814): 96-102, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32581362
4.
A signature of platelet reactivity in CBC scattergrams reveals genetic predictors of thrombotic disease risk.
Blood
; 142(22): 1895-1908, 2023 11 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37647652
5.
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Blood
; 142(24): 2055-2068, 2023 12 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37647632
6.
Effectiveness and costs of a stepwise versus an all-in-one approach to diagnose mild bleeding disorders.
Br J Haematol
; 200(6): 792-801, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36444397
7.
Detection of enterovirus RNA in peripheral blood mononuclear cells correlates with the presence of the predisposing allele of the type 1 diabetes risk gene IFIH1 and with disease stage.
Diabetologia
; 65(10): 1701-1709, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35867130
8.
Unravelling the disease mechanism for TSPYL1 deficiency.
Hum Mol Genet
; 29(20): 3431-3442, 2020 12 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33075815
9.
Multiparameter platelet function analysis of bleeding patients with a prolonged platelet function analyser closure time.
Br J Haematol
; 196(6): 1388-1400, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35001370
10.
Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia.
Blood
; 136(17): 1907-1918, 2020 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-32573726
11.
A novel RUNX1 exon 3 - 7 deletion causing a familial platelet disorder.
Platelets
; 33(2): 320-323, 2022 Feb 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33616470
12.
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
Blood
; 134(23): 2082-2091, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31064749
13.
Identification of a homozygous recessive variant in PTGS1 resulting in a congenital aspirin-like defect in platelet function.
Haematologica
; 106(5): 1423-1432, 2021 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32299908
14.
Cell type-specific novel long non-coding RNA and circular RNA in the BLUEPRINT hematopoietic transcriptomes atlas.
Haematologica
; 106(10): 2613-2623, 2021 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32703790
15.
Thrombomodulin in patients with mild to moderate bleeding tendency.
Haemophilia
; 27(6): 1028-1036, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34628704
16.
Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.
Hum Mutat
; 41(1): 277-290, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31562665
17.
Bleeding of unknown cause and unclassified bleeding disorders; diagnosis, pathophysiology and management.
Haemophilia
; 26(6): 946-957, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33094877
18.
Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding.
Blood
; 130(8): 1026-1030, 2017 08 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-28637664
19.
Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.
Blood
; 129(4): 520-524, 2017 01 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-28064200
20.
High-throughput elucidation of thrombus formation reveals sources of platelet function variability.
Haematologica
; 104(6): 1256-1267, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30545925