Search details
1.
Whole-genome sequencing of patients with rare diseases in a national health system.
Nature
; 583(7814): 96-102, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32581362
2.
A Mendelian randomization of γ' and total fibrinogen levels in relation to venous thromboembolism and ischemic stroke.
Blood
; 136(26): 3062-3069, 2020 12 24.
Article
in English
| MEDLINE | ID: mdl-33367543
3.
Germline mutations in the transcription factor IKZF5 cause thrombocytopenia.
Blood
; 134(23): 2070-2081, 2019 12 05.
Article
in English
| MEDLINE | ID: mdl-31217188
4.
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
Blood
; 134(23): 2082-2091, 2019 12 05.
Article
in English
| MEDLINE | ID: mdl-31064749
5.
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.
Article
in English
| MEDLINE | ID: mdl-32299908
6.
Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.
Blood
; 129(4): 520-524, 2017 01 26.
Article
in English
| MEDLINE | ID: mdl-28064200
7.
Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding.
Blood
; 130(8): 1026-1030, 2017 08 24.
Article
in English
| MEDLINE | ID: mdl-28637664
8.
Inherited platelet disorders: toward DNA-based diagnosis.
Blood
; 127(23): 2814-23, 2016 06 09.
Article
in English
| MEDLINE | ID: mdl-27095789
9.
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.
Blood
; 127(23): 2903-14, 2016 06 09.
Article
in English
| MEDLINE | ID: mdl-26912466
10.
The Effect of Iron Status on Risk of Coronary Artery Disease: A Mendelian Randomization Study-Brief Report.
Arterioscler Thromb Vasc Biol
; 37(9): 1788-1792, 2017 09.
Article
in English
| MEDLINE | ID: mdl-28684612
11.
PARP-14 combines with tristetraprolin in the selective posttranscriptional control of macrophage tissue factor expression.
Blood
; 124(24): 3646-55, 2014 Dec 04.
Article
in English
| MEDLINE | ID: mdl-25293769
12.
O-linked glycosylation of von Willebrand factor modulates the interaction with platelet receptor glycoprotein Ib under static and shear stress conditions.
Blood
; 120(1): 214-22, 2012 Jul 05.
Article
in English
| MEDLINE | ID: mdl-22517896
13.
Clinical phenotype, laboratory features and genotype of 35 patients with heritable dysfibrinogenaemia.
Br J Haematol
; 160(2): 220-7, 2013 Jan.
Article
in English
| MEDLINE | ID: mdl-23061815
14.
von Willebrand factor binds to angiopoietin-2 within endothelial cells and after release from Weibel-Palade bodies.
J Thromb Haemost
; 21(7): 1802-1812, 2023 07.
Article
in English
| MEDLINE | ID: mdl-37011710
15.
Low serum iron levels are associated with elevated plasma levels of coagulation factor VIII and pulmonary emboli/deep venous thromboses in replicate cohorts of patients with hereditary haemorrhagic telangiectasia.
Thorax
; 67(4): 328-33, 2012 Apr.
Article
in English
| MEDLINE | ID: mdl-22169361
16.
Specific N-linked glycosylation sites modulate synthesis and secretion of von Willebrand factor.
Blood
; 116(4): 640-8, 2010 Jul 29.
Article
in English
| MEDLINE | ID: mdl-20418283
17.
Thrombosis with thrombocytopenia after AZD1222 (ChAdOx1 nCov-19) vaccination: Case characteristics and associations.
Vaccine
; 40(38): 5585-5593, 2022 09 09.
Article
in English
| MEDLINE | ID: mdl-35989136
18.
Transfusion for acute upper gastrointestinal bleeding.
N Engl J Med
; 368(14): 1362, 2013 04 04.
Article
in English
| MEDLINE | ID: mdl-23550680
19.
Blocking von Willebrand factor free thiols inhibits binding to collagen under high and pathological shear stress.
J Thromb Haemost
; 19(2): 358-369, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33075181
20.
Recombinant ADAMTS13 reduces abnormally up-regulated von Willebrand factor in plasma from patients with severe COVID-19.
Thromb Res
; 201: 100-112, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33662796