Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia-Reference-Cited by-同舟云学术

Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia

Published:2017-07-27 Issue:2 Volume:179 Page:308-322
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

Leinøe Eva¹,Zetterberg Eva²,Kinalis Savvas³,Østrup Olga³,Kampmann Peter¹,Norström Eva⁴,Andersson Nadine²^ORCID,Klintman Jenny²,Qvortrup Klaus⁵,Nielsen Finn Cilius³,Rossing Maria³^ORCID

Affiliation:

1. Department of Haematology; Rigshospitalet; Copenhagen University Hospital; Copenhagen Denmark

2. Department of Haematology; Coagulation Unit; Skaane University Hospital; Lund Sweden

3. Centre for Genomic Medicine; Rigshospitalet; Copenhagen University Hospital; Copenhagen Denmark

4. Department of Translational Medicine; Lund University; Skaane University Hospital; Lund Sweden

5. Department of Biomedical Sciences; Core Facility for Integrated Microscopy (CFIM); University of Copenhagen; Copenhagen Denmark

Funder

Jon Persson Foundation

Royal Physiografic Society

Publisher

Wiley

Subject

Hematology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjh.14863/fullpdf

Reference47 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nature Methods,2010

2. Munc18b/STXBP2 is required for platelet secretion;Al;Blood,2012

3. Diagnosis of Glanzmann thrombasthenia by whole blood impedance analyzer (MEA) vs. light transmission aggregometry;Albanyan;International Journal of Laboratory Hematology,2015

4. MYH-9 Related platelet disorders: strategies for management and diagnosis;Althaus;Transfusion Medicine and Hemotherapy,2010

5. Performance of ACMG-AMP variant-interpretation guidelines among nine laboratories in the clinical sequencing exploratory research consortium;Amendola;American Journal of Human Genetics,2016

Cited by 48 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Targeted exome analysis in patients with rare bleeding disorders: data from the Rare Bleeding Disorders in the Netherlands study;Research and Practice in Thrombosis and Haemostasis;2024-05

2. Gaining Insights into Inherited Bleeding Disorders of Complex Etiology in Pediatric Patients: Whole-Exome Sequencing as First-Line Investigation Tool;Thrombosis and Haemostasis;2023-12-29

3. Aggregates of nonmuscular myosin IIA in erythrocytes associate with GATA1- and GFI1B-related thrombocytopenia;Journal of Thrombosis and Haemostasis;2023-12

4. Increased bleeding and thrombosis in myeloproliferative neoplasms mediated through altered expression of inherited platelet disorder genes;2023-05-24

5. Validation of immunofluorescence analysis of blood smears in patients with inherited platelet disorders;Journal of Thrombosis and Haemostasis;2023-04