Novel F8 and F9 gene variants from the PedNet hemophilia registry classified according to ACMG/AMP guidelines-Reference-Cited by-同舟云学术

Novel F8 and F9 gene variants from the PedNet hemophilia registry classified according to ACMG/AMP guidelines

Published:2020-10-14 Issue:12 Volume:41 Page:2058-2072
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Andersson Nadine G.¹²³^ORCID,Labarque Veerle⁴,Letelier Anna¹,Mancuso Maria Elisa⁵,Bührlen Martina⁶,Fischer Kathelijn⁷,Kartal‐Kaess Mutlu⁸,Koskenvuo Minna⁹,Mikkelsen Torben¹⁰,Ljung Rolf¹,

Affiliation:

1. Department of Clinical Sciences and Paediatrics Lund University Lund Sweden

2. Centre for Thrombosis and Haemostasis Skåne University Hospital Lund Sweden

3. Department for Paediatric Haematology and Oncology Skåne University Hospital Lund Sweden

4. Department of Pediatrics, Pediatric Hemato‐Oncology University Hospitals Leuven Leuven Belgium

5. Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy

6. Klinikum Bremen‐Mitte Professor‐Hess Children Hospital Bremen Germany

7. Van Creveld Kliniek University Medical Center Utrecht Utrecht The Netherlands

8. Division of Pediatric Hematology and Oncology, Department of Pediatrics Inselspital, University Hospital, University of Bern Bern Switzerland

9. Division of Pediatric Hematology, Oncology, and Stem Cell Transplantation, New Children's Hospital Helsinki University Hospital Helsinki Finland

10. Department of Pediatric Oncology and Hematology University Hospital Aarhus Denmark

Funder

Vetenskapsrådet

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24117

Reference26 articles.

1. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

2. Intracranial haemorrhage in children and adolescents with severe haemophilia A or B - the impact of prophylactic treatment

3. Definitions in hemophilia: communication from the SSC of the ISTH

4. Prospective observational cohort studies for studying rare diseases: the European PedNet Haemophilia Registry

5. Survey of laboratory tests used in the diagnosis and evaluation of haemophilia A

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