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.
Ribosome dysfunction underlies SLFN14-related thrombocytopenia.
Blood
; 141(18): 2261-2274, 2023 05 04.
Article
in English
| MEDLINE | ID: mdl-36790527
3.
Unravelling the disease mechanism for TSPYL1 deficiency.
Hum Mol Genet
; 29(20): 3431-3442, 2020 12 18.
Article
in English
| MEDLINE | ID: mdl-33075815
4.
Germline mutations in the transcription factor IKZF5 cause thrombocytopenia.
Blood
; 134(23): 2070-2081, 2019 12 05.
Article
in English
| MEDLINE | ID: mdl-31217188
5.
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
6.
Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia.
Haematologica
; 104(5): 1036-1045, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30467204
7.
De novo variant in tyrosine kinase SRC causes thrombocytopenia: case report of a second family.
Platelets
; 30(7): 931-934, 2019.
Article
in English
| MEDLINE | ID: mdl-31204551
8.
Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome.
J Allergy Clin Immunol
; 142(2): 630-646, 2018 08.
Article
in English
| MEDLINE | ID: mdl-29391254
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 transcription factor GATA1 regulates NBEAL2 expression through a long-distance enhancer.
Haematologica
; 102(4): 695-706, 2017 04.
Article
in English
| MEDLINE | ID: mdl-28082341
11.
Methylome analysis for haemophilia A intron 22 inversion patients with and without inhibitors: A pilot study.
Haemophilia
; 28(6): e248-e250, 2022 11.
Article
in English
| MEDLINE | ID: mdl-35971883
12.
Combined transcriptome and proteome profiling of SRC kinase activity in healthy and E527K defective megakaryocytes.
Haematologica
; 106(12): 3206-3210, 2021 12 01.
Article
in English
| MEDLINE | ID: mdl-34348454
13.
NPC1 defect results in abnormal platelet formation and function: studies in Niemann-Pick disease type C1 patients and zebrafish.
Hum Mol Genet
; 22(1): 61-73, 2013 Jan 01.
Article
in English
| MEDLINE | ID: mdl-23010472
14.
Homozygosity for aquaporin 7 G264V in three unrelated children with hyperglyceroluria and a mild platelet secretion defect.
Genet Med
; 15(1): 55-63, 2013 Jan.
Article
in English
| MEDLINE | ID: mdl-22899094
15.
Regulator of G-protein signaling 18 controls megakaryopoiesis and the cilia-mediated vertebrate mechanosensory system.
FASEB J
; 26(5): 2125-36, 2012 May.
Article
in English
| MEDLINE | ID: mdl-22308195
16.
Clinical application of multigene panel testing for bleeding, thrombotic, and platelet disorders: a 3-year Belgian experience.
J Thromb Haemost
; 21(4): 887-895, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36696193
17.
Genetic association analysis of 77,539 genomes reveals rare disease etiologies.
Nat Med
; 29(3): 679-688, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36928819
18.
No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity.
J Hum Genet
; 57(4): 277-9, 2012 Apr.
Article
in English
| MEDLINE | ID: mdl-22277900
19.
The brain-derived neurotrophic factor prompts platelet aggregation and secretion.
Blood Adv
; 5(18): 3568-3580, 2021 09 28.
Article
in English
| MEDLINE | ID: mdl-34546355
20.
Increased Gs signalling in platelets and impaired collagen activation, due to a defect in the dystrophin gene, result in increased blood loss during spinal surgery.
Hum Mol Genet
; 17(3): 357-66, 2008 Feb 01.
Article
in English
| MEDLINE | ID: mdl-17981813