Paper Details

Paper Title

Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.

Paper Journal Title

Hum Mutat

Paper Citation Count

Paper Publication Year

2020

Bio Mention

BPD, Dhle, MYH9, MYH9-RD, MYH9-related disorder, Patients, bleeding, bleeding diathesis, hearing impairment, leukocytes, macrothrombocytes, patients, platelet disorder, renal failure, thrombocytopenia, unclassified

Mesh Descriptor

Author Name	Affiliation
Karyn Megy	University of Cambridge
Karyn Megy	Cambridge University Hospitals
Jonathan Stephens	University of Cambridge
Jonathan Stephens	Cambridge University Hospitals
Daniel Greene	University of Cambridge
Daniel Greene	Cambridge University Hospitals
Daniel Greene	Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust
Tadbir K Bariana	University of Cambridge
Tadbir K Bariana	Royal Free London NHS Foundation Trust
Tadbir K Bariana	Cambridge University Hospitals
Kate Downes	University of Cambridge
Kate Downes	Cambridge University Hospitals
Rutendo Mapeta	University of Cambridge
Rutendo Mapeta	Cambridge University Hospitals
Christopher J Penkett	University of Cambridge
Christopher J Penkett	Cambridge University Hospitals
Kathleen Stirrups	University of Cambridge
Kathleen Stirrups	Cambridge University Hospitals
Kathleen Stirrups	University of Cambridge
Kathleen Stirrups	Cambridge University Hospitals
Ernest Turro	University of Cambridge
Ernest Turro	Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health
Ernest Turro	Cambridge University Hospitals
Ernest Turro	University of Cambridge
Ernest Turro	Cambridge University Hospitals
Ernest Turro	Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health
Sarah K Westbury	University of Bristol
Keith Gomez
Kathleen Freson	Center for Molecular and Vascular Biology
Kathleen Freson	Center for Molecular and Vascular Biology
Willem H Ouwehand	University of Cambridge
Willem H Ouwehand	Cambridge University Hospitals
Willem H Ouwehand
Willem H Ouwehand	Wellcome Trust Sanger Institute
Willem H Ouwehand	University of Cambridge
Willem H Ouwehand	Cambridge University Hospitals
Willem H Ouwehand
Willem H Ouwehand	Wellcome Trust Sanger Institute

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