Gracia-Diaz, Carolina http://orcid.org/0000-0003-1814-2464
Zhou, Yijing
Yang, Qian http://orcid.org/0000-0003-4005-3580
Maroofian, Reza
Espana-Bonilla, Paula http://orcid.org/0000-0002-4691-5607
Lee, Chul-Hwan
Zhang, Shuo
Padilla, Natàlia http://orcid.org/0000-0002-7872-2279
Fueyo, Raquel
Waxman, Elisa A. http://orcid.org/0000-0003-4562-7969
Lei, Sunyimeng
Otrimski, Garrett
Li, Dong http://orcid.org/0000-0002-2265-6727
Sheppard, Sarah E.
Mark, Paul http://orcid.org/0000-0002-1020-888X
Harr, Margaret H.
Hakonarson, Hakon http://orcid.org/0000-0003-2814-7461
Rodan, Lance
Jackson, Adam
Vasudevan, Pradeep http://orcid.org/0009-0002-6095-2030
Powel, Corrina
Mohammed, Shehla
Maddirevula, Sateesh
Alzaidan, Hamad
Faqeih, Eissa A.
Efthymiou, Stephanie http://orcid.org/0000-0003-4900-9877
Turchetti, Valentina
Rahman, Fatima
Maqbool, Shazia
Salpietro, Vincenzo http://orcid.org/0000-0003-0132-7921
Ibrahim, Shahnaz H. http://orcid.org/0000-0003-4018-6594
di Rosa, Gabriella
Houlden, Henry http://orcid.org/0000-0002-2866-7777
Alharbi, Maha Nasser
Al-Sannaa, Nouriya Abbas
Bauer, Peter
Zifarelli, Giovanni
Estaras, Conchi
Hurst, Anna C. E. http://orcid.org/0000-0002-9765-9703
Thompson, Michelle L.
Chassevent, Anna
Smith-Hicks, Constance L.
de la Cruz, Xavier
Holtz, Alexander M.
Elloumi, Houda Zghal
Hajianpour, M J
Rieubland, Claudine
Braun, Dominique http://orcid.org/0000-0002-4340-4334
Banka, Siddharth http://orcid.org/0000-0002-8527-2210
Ambrose, J. C.
Arumugam, P.
Bevers, R.
Bleda, M.
Boardman-Pretty, F.
Boustred, C. R.
Brittain, H.
Brown, M. A.
Caulfield, M. J.
Chan, G. C.
Giess, A.
Griffin, J. N.
Hamblin, A.
Henderson, S.
Hubbard, T. J. P.
Jackson, R.
Jones, L. J.
Kasperaviciute, D.
Kayikci, M.
Kousathanas, A.
Lahnstein, L.
Lakey, A.
Leigh, S. E. A.
Leong, I. U. S.
Lopez, F. J.
Maleady-Crowe, F.
McEntagart, M.
Minneci, F.
Mitchell, J.
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Mueller, M.
Murugaesu, N.
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O’Donovan, P.
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Patch, C.
Perez-Gil, D.
Pereira, M. B.
Pullinger, J.
Rahim, T.
Rendon, A.
Rogers, T.
Savage, K.
Sawant, K.
Scott, R. H.
Siddiq, A.
Sieghart, A.
Smith, S. C.
Sosinsky, A.
Stuckey, A.
Tanguy, M.
Taylor Tavares, A. L.
Thomas, E. R. A.
Thompson, S. R.
Tucci, A.
Welland, M. J.
Williams, E.
Witkowska, K.
Wood, S. M.
Zarowiecki, M.
French, Deborah L.
Heller, Elizabeth A. http://orcid.org/0000-0002-2984-8705
Saade, Murielle
Song, Hongjun http://orcid.org/0000-0002-8720-5310
Ming, Guo-li http://orcid.org/0000-0002-2517-6075
Alkuraya, Fowzan S. http://orcid.org/0000-0003-4158-341X
Agrawal, Pankaj B.
Reinberg, Danny
Bhoj, Elizabeth J.
Martínez-Balbás, Marian A. http://orcid.org/0000-0003-0173-0964
Akizu, Naiara http://orcid.org/0000-0001-9222-6960
,
Funding for this research was provided by:
U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke (R01NS119699)
Article History
Received: 14 July 2022
Accepted: 22 June 2023
First Online: 11 July 2023
Competing interests
: Houda Zghal Elloumi is an employee of GeneDX, LLC. Peter Bauer and Giovanni Zifarelli are employees of Centogene. The remaining authors declare no competing interests.