,
Smith, Michael
Alexander, Elizabeth
Marcinkute, Ruta
Dan, Dorica
Rawson, Myfanwy
Banka, Siddharth
Gavin, Jason
Mina, Hany
Hennessy, Con
Riccardi, Florence
Radio, Francesca Clementina
Havlovicova, Marketa
Cassina, Matteo
Emandi, Adela Chirita
Fradin, Melanie
Gompertz, Lianne
Nordgren, Ann
Traberg, Rasa
Rossi, Massimiliano
Trimouille, AureliƩn
Sowmyalakshmi, Rasika
Dallapiccola, Bruno
Renieri, Alessandra
Faivre, Laurence
Kerr, Bronwyn
Verloes, Alain
Clayton-Smith, Jill
Douzgou, Sofia
Funding for this research was provided by:
Connecting Europe Facility (2017-UK-IA-0116)
Sixth Framework Programme (HP-ERN-SGA-2016: 769045; HP-ERN-SGA-2017: 811487)
Article History
Received: 11 November 2019
Accepted: 3 March 2020
First Online: 25 April 2020
Ethics approval and consent to participate
: Patients and families were enrolled by the referring doctor. Clinical information was submitted on the CPMS following written informed consent that was obtained for all participants and/or their legal guardians.
: The paper contains no individual data and therefore consent was not required.
: SD is a clinical investigator for Illumina, Biotechnology company. All other authors declare no competing interests.