Karimi, Karim
Weis, Denisa
Aukrust, Ingvild
Hsieh, Tzung-Chien
Horackova, Marie
Paulsen, Julie
Mendoza Londono, Roberto https://orcid.org/0000-0003-3542-8106
Dupuis, Lucie https://orcid.org/0000-0002-6068-8199
Dickson, Megan
Lesman, Hellen https://orcid.org/0000-0001-7985-1702
Lau, Tracy
Murphy, David
Hama Salih, Khalid
Al-Musawi, Bassam M. S. https://orcid.org/0000-0002-4404-377X
Al-Obaidi, Ruqayah G. Y.
Rydzanicz, Malgorzata
Biela, Mateus https://orcid.org/0000-0002-3461-193X
Santos, Mafalda Saraiva
Aldeeri, Abdulrahman
Gazda, Hanna T.
Pais, Lynn
Shril, Shirlee
Døllner, Henrik
Bartakke, Sandip
Laccone, Franco
Soltysova, Andrea
Kitzler, Thomas https://orcid.org/0009-0006-1537-5237
Soliman, Neveen A. https://orcid.org/0000-0002-8942-1973
Relator, Raissa
Levy, Michael A.
Kerkhof, Jennifer https://orcid.org/0000-0003-1245-6606
Rzasa, Jessica
Houlden, Henry https://orcid.org/0000-0002-2866-7777
Pilshofer, Gabriela V.
Jobst-Schwan, Tilman
Hildebrandt, Friedhelm https://orcid.org/0000-0002-7130-0030
Sousa, Sergio B.
Maroofian, Reza https://orcid.org/0000-0001-6763-1542
Yu, Timothy W. https://orcid.org/0000-0003-2988-7701
Krawitz, Peter
Sadikovic, Bekim https://orcid.org/0000-0001-6363-0016
Douzgou Houge, Sofia https://orcid.org/0000-0001-8890-7544
Funding for this research was provided by:
The Norwegian National Advisory Unit on Rare Disorders (grant #43066).
U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (UM1HG008900, R01HG009141)
U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute
Deutsche Forschungsgemeinschaft (281319475)
U.S. Department of Health & Human Services | National Institutes of Health (DK068306)
Government of Canada (OGI-188)
Article History
Received: 5 March 2024
Revised: 16 June 2024
Accepted: 24 September 2024
First Online: 19 October 2024
Competing interests
: BS is a shareholder in EpiSign Inc, company involved in commercialization of EpiSignTM technology.
: This study was performed according to the Declaration of Helsinki and approved by the Western Norway Regional Ethics Committee (REC 604007) and the Western Ontario University Research Ethics Board (REB 106302). Written informed consent for the publication of photographs, videos and medical information was obtained from parents/legal guardians.