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Authors
Rius, Rocio https://orcid.org/0000-0002-9871-3126
Blakes, Alexander J. M. https://orcid.org/0000-0002-0260-7020
Chen, Yuyang https://orcid.org/0000-0001-5593-6920
De Jonghe, Joachim https://orcid.org/0000-0003-0584-8265
Lecoquierre, François https://orcid.org/0000-0002-9110-1856
Dawes, Ruebena https://orcid.org/0000-0003-2135-0117
Cogne, Benjamin https://orcid.org/0000-0002-5503-6292
Kim, Hyung Chul https://orcid.org/0000-0001-5877-5456
Alvi, Javeria R.
Amblard, Florence
Ansari, Morad
Arlt, Annabelle
Austin-Tse, Christina
Baer, Sarah
Balasubramanian, Meena https://orcid.org/0000-0003-1488-3695
Balton, Elsa V. https://orcid.org/0000-0002-5699-3895
Barcia, Giulia
Beleza-Meireles, Ana
Bernstein, Jonathan A. https://orcid.org/0000-0001-5369-346X
Beygo, Jasmin
Blanc, Pierre
Bramswig, Nuria C. https://orcid.org/0000-0002-3367-586X
Braun, Frederik https://orcid.org/0000-0002-3601-2746
Buchzik, Daniel
Calame, Daniel G.
Campbell, Jamie
Coutton, Charles
Cunningham, Chloe A. https://orcid.org/0000-0002-2525-1936
Dargie, Nitsuh
Depienne, Christel https://orcid.org/0000-0002-7212-9554
Dipple, Katrina M.
Dieux, Anne
Dixit, Abhijit https://orcid.org/0000-0001-9240-0674
Dreyer, Lauren
Du, Haowei
El Chehadeh, Salima https://orcid.org/0000-0003-1613-6570
Field, Michael https://orcid.org/0000-0001-7455-934X
Ewans, Lisa J.
Geiger, Vanessa
Gibbs, Richard A.
Glass, Ian https://orcid.org/0000-0001-6762-8407
Grunewald, Olivier
Gueguen, Paul
Haack, Tobias B. https://orcid.org/0000-0001-6033-4836
Hadj Abdallah, Hamza
Harbuz, Radu
Helbig, Ingo https://orcid.org/0000-0001-8486-0558
Horvath, Judit
Hustinx, Alexander https://orcid.org/0000-0003-4592-3979
Isidor, Bertrand
Jacquemont, Marie-Line
Jamie, Fraser
Jeanne, Médéric
Kessler, Riley
Klinkhammer, Hannah https://orcid.org/0000-0003-3752-1275
Korenke, G. Christoph
Kotzaeridou, Urania
Krawitz, Peter https://orcid.org/0000-0002-3194-8625
Laurie, Steven https://orcid.org/0000-0003-3913-5829
Leventer, Richard J. https://orcid.org/0000-0003-0362-5607
Levy, Rebecca J. https://orcid.org/0000-0003-0393-6835
Lupski, James R. https://orcid.org/0000-0001-9907-9246
Marijon, Pierre https://orcid.org/0000-0002-6694-6873
McGinnis, Kaitlin E.
Mendez, Rodrigo
Messaoud, Olfa https://orcid.org/0000-0003-4547-0180
Nava, Caroline https://orcid.org/0000-0003-1272-0518
Nizard, Mevyn
O’Donnell-Luria, Anne
O’Leary, Melanie C. https://orcid.org/0000-0002-8718-4759
Olivieri, Simone
Parida, Amitav
Pehlivan, Davut
Prentice, Anna Jenne https://orcid.org/0009-0008-7459-1778
Posey, Jennifer E. https://orcid.org/0000-0003-4814-6765
Reuter, Chloe M.
Satre, Véronique
Schluth-Bolard, Caroline
Smol, Thomas
Sultan, Tipu
Taylor, John
Thauvin-Robinetvin, Christel https://orcid.org/0000-0002-4155-139X
Thevenon, Julien
Uebergang, Eloise https://orcid.org/0000-0003-0305-7822
Ueberberg, Sandra
Vincent-Delorme, Catherine
Wassmer, Evangeline https://orcid.org/0000-0002-2446-1106
Westwood, Emma
Wheeler, Matthew T. https://orcid.org/0000-0001-8721-3022
Gulec, Elif Yilmaz
Vanderver, Adeline
Vossough, Arastoo
Sanders, Stephan J. https://orcid.org/0000-0001-9112-5148
Banka, Siddharth https://orcid.org/0000-0002-8527-2210
Findlay, Gregory M. https://orcid.org/0000-0002-7767-8608
MacArthur, Daniel G.
Simons, Cas https://orcid.org/0000-0003-3147-8042
Whiffin, Nicola https://orcid.org/0000-0003-1554-6594
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Funding
Funding for this research was provided by:
Wellcome Trust (305292/Z/23/Z)
Wellcome Trust (223521/Z/21/Z)
Wellcome Trust (CC2190)
Lister Institute of Preventive Medicine
Cancer Research UK (CC2190)
RCUK | Medical Research Council (CC2190)
Department of Health | National Health and Medical Research Council (2009982)
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Article History
Received: 18 August 2025
Accepted: 25 February 2026
First Online: 8 April 2026
Competing interests
: N.W. receives research funding from Novo Nordisk and BioMarin Pharmaceutical. D.G.M. is a paid consultant for GlaxoSmithKline, Insitro and Overtone Therapeutics, and receives research support from Microsoft. D.P. provides consulting service to Ionis Pharmaceuticals, Acadia Pharmaceuticals and M2DS Therapeutics. S.J.S. receives research funding from BioMarin Pharmaceutical. A.O’D.-L. is on the scientific advisory board for Congenica, was a paid consultant for Tome Biosciences, Ono Pharma USA and at present for Addition Therapeutics, and received reagents from PacBio to support rare disease research. Y.C. has a PhD studentship funded by Novo Nordisk. R.A.G. has equity in Codified Genomics. None of these relationships are related to the presented research. The other authors declare no competing interests.
