Bibliografisk note

Funding Information:
We thank the patients and their families for participating in this research. We acknowledge Clara L. Kielkopf (University of Rochester, Rochester, New York, USA) for providing the pyPY minigene construct. This study was supported in part by a CHOP Roberts Collaborative Functional Genomics Rapid grant (to DL, MB, and YS); Institutional Development Funds (to HH); an Eagles Autism Foundation grant (to DL); NIH grant R01NS107392 (to YS); and a Pennsylvania Department of Health grant 4100088540 (to YS). Work for U2AF2 individual 30 was supported by the NIH Common Fund, through the Office of Strategic Coordination/Office of the NIH Director under Award U01HG007672 (to Duke University). Work for U2AF2 individual 27 was conducted as part of the Clinical Sequencing Evidence-Generating Research (CSER) consortium, which is funded by the National Human Genome Research Institute (NHGRI) (U01HG007301) with co-funding from the National Institute on Minority Health and Health Disparities (NIMHD) and the NCI, NIH. Work for U2AF2 individual 28 was conducted at the University of Alabama at Birmingham and the HudsonAlpha Institute for Biotechnology, and funded by the state of Alabama. Work for U2AF2 individual 45 was supported in part by the Telethon Undiagnosed Diseases Program (TUDP) (GSP15001). Work for PRPF19 individual P2 was supported by NIH U01 award HG009610 (to BDG). Additional support includes grant NU22-07-00165 from the Czech Ministry of Health (to ZS); the German Research Foundation (DFG, Deutsche Forschungsgemeinschaft) under Germany’s Excellence Strategy (EXC 2067/1-390729940); and the DZHK (German Centre for Cardiovascular Research; partner site Göttingen) (to BW); the Dutch Organization for Health Research and Development ZON-MW grant 912-12-109 (to BBADV); the Novo Nordisk Foundation grant NNF20SA0064340 (to AB); the Japan Agency for Medical Research and Development (AMED) under grant numbers JP22ek0109486, JP22ek0109549, and JP22ek0109493 (to NM); JSPS KAKENHI under grant number JP21K15907 (to YU); and the Takeda Science Foundation (to NM). The DDD study presents independent research commissioned by the Health Innovation Challenge Fund (grant HICF-1009-003). This study makes use of DECIPHER (https://www.deciphergenomics.org), which is funded by Wellcome (grant 223718/Z/21/Z) and hosted by EMBL-EBI. See Nature PMID: 25533962 or www.ddduk.org/access.html for full acknowledgment. The illustration in the Graphical Abstract was generated in part using Biorender.com.

Publisher Copyright:
Copyright: © 2023, Li et al. This is an open access article published under the terms of the Creative Commons Attribution 4.0 International License.