Mao, Ke
Borel, Christelle
Ansar, Muhammad
Jolly, Angad
Makrythanasis, Periklis
Froehlich, Christine
Iwaszkiewicz, Justyna http://orcid.org/0000-0003-3494-589X
Wang, Bingqing
Xu, Xiaopeng
Li, Qiang
Blanc, Xavier
Zhu, Hao http://orcid.org/0000-0002-5441-4968
Chen, Qi
Jin, Fujun http://orcid.org/0000-0002-7314-0085
Ankamreddy, Harinarayana
Singh, Sunita
Zhang, Hongyuan
Wang, Xiaogang
Chen, Peiwei
Ranza, Emmanuelle
Paracha, Sohail Aziz http://orcid.org/0000-0002-2616-1705
Shah, Syed Fahim
Guida, Valentina http://orcid.org/0000-0003-3946-645X
Piceci-Sparascio, Francesca
Melis, Daniela
Dallapiccola, Bruno
Digilio, Maria Cristina
Novelli, Antonio
Magliozzi, Monia
Fadda, Maria Teresa
Streff, Haley
Machol, Keren
Lewis, Richard A. http://orcid.org/0000-0002-6644-6385
Zoete, Vincent
Squeo, Gabriella Maria
Prontera, Paolo http://orcid.org/0000-0003-4960-9223
Mancano, Giorgia
Gori, Giulia http://orcid.org/0000-0002-6026-4126
Mariani, Milena
Selicorni, Angelo
Psoni, Stavroula
Fryssira, Helen
Douzgou, Sofia http://orcid.org/0000-0001-8890-7544
Marlin, Sandrine http://orcid.org/0000-0002-4115-9806
Biskup, Saskia
De Luca, Alessandro http://orcid.org/0000-0002-4408-8062
Merla, Giuseppe http://orcid.org/0000-0001-5078-928X
Zhao, Shouqin
Cox, Timothy C. http://orcid.org/0000-0001-8015-5528
Groves, Andrew K. http://orcid.org/0000-0002-0784-7998
Lupski, James R. http://orcid.org/0000-0001-9907-9246
Zhang, Qingguo
Zhang, Yong-Biao http://orcid.org/0000-0002-2764-2148
Antonarakis, Stylianos E. http://orcid.org/0000-0001-8907-5823
Funding for this research was provided by:
ChildCare Foundation
Article History
Received: 9 April 2022
Accepted: 28 March 2023
First Online: 11 April 2023
Competing interests
: S.E.A. is a cofounder and CEO of Medigenome, and serves on the Scientific Advisory Board of the “Imaging” institute in Paris; J.R.L. has stock ownership in 23andMe, is a paid consultant for Regeneron Genetics Center, is a co-inventor on multiple United States and European patents related to molecular diagnostics for inherited neuropathies, eye diseases, and bacterial genomic fingerprinting, and serves on the Scientific Advisory Board of BG. The Department of Molecular and Human Genetics at Baylor College of Medicine receives revenue from clinical genetic and genomic testing conducted at Baylor Genetics (BG) Laboratories. The remaining authors declare no competing interests.