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Authors
Chen, Yuyang http://orcid.org/0000-0001-5593-6920
Dawes, Ruebena http://orcid.org/0000-0003-2135-0117
Kim, Hyung Chul http://orcid.org/0000-0001-5877-5456
Ljungdahl, Alicia
Stenton, Sarah L. http://orcid.org/0000-0003-4071-449X
Walker, Susan http://orcid.org/0000-0002-5016-6426
Lord, Jenny http://orcid.org/0000-0002-0539-9343
Lemire, Gabrielle
Martin-Geary, Alexandra C. http://orcid.org/0000-0002-5818-1962
Ganesh, Vijay S.
Ma, Jialan
Ellingford, Jamie M.
Delage, Erwan http://orcid.org/0000-0002-7653-5111
D’Souza, Elston N. http://orcid.org/0000-0002-5394-7260
Dong, Shan
Adams, David R.
Allan, Kirsten
Bakshi, Madhura
Baldwin, Erin E.
Berger, Seth I. http://orcid.org/0000-0001-7517-4302
Bernstein, Jonathan A. http://orcid.org/0000-0001-5369-346X
Bhatnagar, Ishita
Blair, Ed
Brown, Natasha J.
Burrage, Lindsay C.
Chapman, Kimberly
Coman, David J. http://orcid.org/0000-0001-6303-6471
Compton, Alison G. http://orcid.org/0000-0002-2725-7055
Cunningham, Chloe A.
D’Souza, Precilla
Danecek, Petr
Délot, Emmanuèle C.
Dias, Kerith-Rae http://orcid.org/0000-0002-4707-8089
Elias, Ellen R.
Elmslie, Frances http://orcid.org/0000-0002-2508-9107
Evans, Care-Anne
Ewans, Lisa
Ezell, Kimberly
Fraser, Jamie L. http://orcid.org/0000-0002-7794-8903
Gallacher, Lyndon http://orcid.org/0000-0003-2245-9034
Genetti, Casie A.
Goriely, Anne http://orcid.org/0000-0001-9229-7216
Grant, Christina L. http://orcid.org/0000-0002-0627-4614
Haack, Tobias http://orcid.org/0000-0001-6033-4836
Higgs, Jenny E.
Hinch, Anjali G. http://orcid.org/0000-0002-0836-3418
Hurles, Matthew E. http://orcid.org/0000-0002-2333-7015
Kuechler, Alma
Lachlan, Katherine L.
Lalani, Seema R.
Lecoquierre, François
Leitão, Elsa http://orcid.org/0000-0001-5051-9714
Fevre, Anna Le http://orcid.org/0000-0001-5843-9516
Leventer, Richard J.
Liebelt, Jan E.
Lindsay, Sarah http://orcid.org/0000-0002-0965-3070
Lockhart, Paul J. http://orcid.org/0000-0003-2531-8413
Ma, Alan S.
Macnamara, Ellen F.
Mansour, Sahar
Maurer, Taylor M. http://orcid.org/0009-0002-2330-7980
Mendez, Hector R. http://orcid.org/0000-0001-6465-452X
Metcalfe, Kay
Montgomery, Stephen B. http://orcid.org/0000-0002-5200-3903
Moosajee, Mariya
Nassogne, Marie-Cécile
Neumann, Serena http://orcid.org/0009-0001-0957-7338
O’Donoghue, Michael
O’Leary, Melanie http://orcid.org/0000-0002-8718-4759
Palmer, Elizabeth E.
Pattani, Nikhil http://orcid.org/0000-0002-7233-3635
Phillips, John
Pitsava, Georgia
Pysar, Ryan
Rehm, Heidi L.
Reuter, Chloe M.
Revencu, Nicole http://orcid.org/0000-0002-7120-4903
Riess, Angelika
Rius, Rocio http://orcid.org/0000-0002-9871-3126
Rodan, Lance
Roscioli, Tony
Rosenfeld, Jill A. http://orcid.org/0000-0001-5664-7987
Sachdev, Rani
Shaw-Smith, Charles J.
Simons, Cas http://orcid.org/0000-0003-3147-8042
Sisodiya, Sanjay M.
Snell, Penny http://orcid.org/0000-0002-9821-5282
St Clair, Laura
Stark, Zornitza
Stewart, Helen S.
Tan, Tiong Yang
Tan, Natalie B.
Temple, Suzanna E. L.
Thorburn, David R. http://orcid.org/0000-0002-7725-9470
Tifft, Cynthia J.
Uebergang, Eloise http://orcid.org/0000-0003-0305-7822
VanNoy, Grace E.
Vasudevan, Pradeep http://orcid.org/0009-0002-6095-2030
Vilain, Eric
Viskochil, David H.
Wedd, Laura
Wheeler, Matthew T. http://orcid.org/0000-0001-8721-3022
White, Susan M.
Wojcik, Monica
Wolfe, Lynne A.
Wolfenson, Zoe http://orcid.org/0009-0008-2207-5755
Wright, Caroline F. http://orcid.org/0000-0003-2958-5076
Xiao, Changrui
Zocche, David
Rubenstein, John L.
Markenscoff-Papadimitriou, Eirene
Fica, Sebastian M. http://orcid.org/0000-0001-9186-0361
Baralle, Diana
Depienne, Christel http://orcid.org/0000-0002-7212-9554
MacArthur, Daniel G.
Howson, Joanna M. M. http://orcid.org/0000-0001-7618-0050
Sanders, Stephan J. http://orcid.org/0000-0001-9112-5148
O’Donnell-Luria, Anne http://orcid.org/0000-0001-6418-9592
Whiffin, Nicola http://orcid.org/0000-0003-1554-6594
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Article History
Received: 7 April 2024
Accepted: 2 July 2024
First Online: 11 July 2024
Competing interests
: N.W. receives research funding from Novo Nordisk and has consulted for ArgoBio studio. 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 Inc. and at present for Addition Therapeutics, and received reagents from PacBio to support rare disease research. H.L.R. has received support from Illumina and Microsoft to support rare disease gene discovery and diagnosis. M.W. has consulted for Illumina and Sanofi and received speaking honoraria from Illumina and GeneDx. S.B.M. is an advisor for BioMarin, Myome and Tenaya Therapeutics. S.M.S. has received honoraria for educational events or advisory boards from Angelini Pharma, Biocodex, Eisai, Zogenix/UCB and institutional contributions for advisory boards, educational events or consultancy work from Eisai, Jazz/GW Pharma, Stoke Therapeutics, Takeda, UCB and Zogenix. The Department of Molecular and Human Genetics at Baylor College of Medicine receives revenue from clinical genetic testing completed at Baylor Genetics Laboratories. J.M.M.H. is a full-time employee of Novo Nordisk and holds shares in Novo Nordisk A/S. D.G.M. is a paid consultant for GlaxoSmithKline, Insitro and Overtone Therapeutics and receives research support from Microsoft. All other authors declare no competing interests.
