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 48138https://www.addgene.org/48138  Addgene identifier (48138, reused)

 127288https://www.addgene.org/127288  Addgene identifier (127288, reused)

 mbexc.de...tures/https://mbexc.de/spliceosome-malfunction-causes-neurodevelopmental-disorders-with-overlapping-features/  Website entry (mbexc.de)

 gro-2/139206http://resolver.sub.uni-goettingen.de/purl?gro-2/139206  GRO.publications identifier

 0000-0002-2265-6727https://orcid.org/0000-0002-2265-6727  ORCID identifier (Dong Li)

 0000-0003-2777-0198https://orcid.org/0000-0003-2777-0198  ORCID identifier (Gökhan Yigit)

 0000-0003-2589-0364https://orcid.org/0000-0003-2589-0364  ORCID identifier (Bernd Wollnik)

 0000-0001-7831-6935https://orcid.org/0000-0001-7831-6935  ORCID identifier (Mark R. Battig)

 0000-0003-3033-0329https://orcid.org/0000-0003-3033-0329  ORCID identifier (Gijs van Haaften)

 0000-0002-1988-3005https://orcid.org/0000-0002-1988-3005  ORCID identifier (Luis Perez-Jurado)

 0000-0001-9173-6862https://orcid.org/0000-0001-9173-6862  ORCID identifier (Michael E. March)

 0000-0002-2834-6973https://orcid.org/0000-0002-2834-6973  ORCID identifier (Gabrielle Lemire)

 0000-0003-0312-3746https://orcid.org/0000-0003-0312-3746  ORCID identifier (Mark Tarnopolsky)

 0000-0001-6543-6225https://orcid.org/0000-0001-6543-6225  ORCID identifier (Emanuele Agolini)

 0000-0002-9505-5906https://orcid.org/0000-0002-9505-5906  ORCID identifier (Maria Lisa Dentici)

 0000-0002-9037-4297https://orcid.org/0000-0002-9037-4297  ORCID identifier (Antonio Novelli)

 0000-0002-6065-1476https://orcid.org/0000-0002-6065-1476  ORCID identifier (Pasquale Striano)

 0000-0001-6172-8247https://orcid.org/0000-0001-6172-8247  ORCID identifier (Boris Keren)

 0000-0001-8486-0558https://orcid.org/0000-0001-8486-0558  ORCID identifier (Ingo Helbig)

 0000-0002-3194-8625https://orcid.org/0000-0002-3194-8625  ORCID identifier (Peter M. Krawitz)

 0000-0001-6069-7960https://orcid.org/0000-0001-6069-7960  ORCID identifier (John Greally)

 0000-0002-7553-3245https://orcid.org/0000-0002-7553-3245  ORCID identifier (Manuela Morleo)

 0000-0002-4540-5277https://orcid.org/0000-0002-4540-5277  ORCID identifier (Yuri Uchiyama)

 0000-0002-9765-9703https://orcid.org/0000-0002-9765-9703  ORCID identifier (Anna C. E. Hurst)

 0000-0003-0099-9945https://orcid.org/0000-0003-0099-9945  ORCID identifier (Gregory Costain)

 0000-0001-5973-4728https://orcid.org/0000-0001-5973-4728  ORCID identifier (Jeanne Amiel)

 0000-0001-7098-6520https://orcid.org/0000-0001-7098-6520  ORCID identifier (Christophe Philippe)

 0000-0002-0584-4398https://orcid.org/0000-0002-0584-4398  ORCID identifier (Rolph Pfundt)

 0000-0002-5503-6292https://orcid.org/0000-0002-5503-6292  ORCID identifier (Benjamin Cogné)

 0000-0001-7699-2059https://orcid.org/0000-0001-7699-2059  ORCID identifier (Yuanquan Song)

 0000-0003-2814-7461https://orcid.org/0000-0003-2814-7461  ORCID identifier (Hakon Hakonarson)

 035xkbk20https://ror.org/035xkbk20  ROR identifier (035xkbk20, Aix-Marseille University)

 05cf8a891https://ror.org/05cf8a891  ROR identifier (05cf8a891, Albert Einstein College of Medicine)

 051ae8e94https://ror.org/051ae8e94  ROR identifier (051ae8e94, Ambry Genetics (United States))

 00dvg7y05https://ror.org/00dvg7y05  ROR identifier (00dvg7y05, Boston Children's Hospital)

 02xawj266https://ror.org/02xawj266  ROR identifier (02xawj266, Central Michigan University)

 01ygm5w19https://ror.org/01ygm5w19  ROR identifier (01ygm5w19, Centre for Biomedical Network Research on Rare Diseases)

 05c1qsg97https://ror.org/05c1qsg97  ROR identifier (05c1qsg97, Centre Hospitalier Universitaire de Nantes)

 05qec5a53https://ror.org/05qec5a53  ROR identifier (05qec5a53, Centre Hospitalier Universitaire de Rennes)

 0377z4z10https://ror.org/0377z4z10  ROR identifier (0377z4z10, Centre Hospitalier Universitaire Dijon Bourgogne)

 01gv74p78https://ror.org/01gv74p78  ROR identifier (01gv74p78, Centre Hospitalier Universitaire Sainte-Justine)

 00412ts95https://ror.org/00412ts95  ROR identifier (00412ts95, Children's Hospital of Los Angeles)

 0429x9p85https://ror.org/0429x9p85  ROR identifier (0429x9p85, Children's Hospital of Michigan)

 01z7r7q48https://ror.org/01z7r7q48  ROR identifier (01z7r7q48, Children's Hospital of Philadelphia)

 01hcyya48https://ror.org/01hcyya48  ROR identifier (01hcyya48, Cincinnati Children's Hospital Medical Center)

 01esghr10https://ror.org/01esghr10  ROR identifier (01esghr10, Columbia University Irving Medical Center)

 05bpbnx46https://ror.org/05bpbnx46  ROR identifier (05bpbnx46, Copenhagen University Hospital)

 009z5t729https://ror.org/009z5t729  ROR identifier (009z5t729, Cook Children's Medical Center)

 04dzdm737https://ror.org/04dzdm737  ROR identifier (04dzdm737, deCODE Genetics (Iceland))

 00py81415https://ror.org/00py81415  ROR identifier (00py81415, Duke University)

 018906e22https://ror.org/018906e22  ROR identifier (018906e22, Erasmus MC)

 031t5w623https://ror.org/031t5w623  ROR identifier (031t5w623, German Centre for Cardiovascular Research)

 03p64mj41https://ror.org/03p64mj41  ROR identifier (03p64mj41, Greenwood Genetic Center)

 00yfbr841https://ror.org/00yfbr841  ROR identifier (00yfbr841, Hôpital Armand-Trousseau)

 05jrr4320https://ror.org/05jrr4320  ROR identifier (05jrr4320, Hôpital de la Timone)

 05tr67282https://ror.org/05tr67282  ROR identifier (05tr67282, Hôpital Necker-Enfants Malades)

 042nkmz09https://ror.org/042nkmz09  ROR identifier (042nkmz09, Hospital del Mar Research Institute)

 057q4rt57https://ror.org/057q4rt57  ROR identifier (057q4rt57, Hospital for Sick Children)

 01s1q0w69https://ror.org/01s1q0w69  ROR identifier (01s1q0w69, Hospital Universitario La Paz)

 04nz0wq19https://ror.org/04nz0wq19  ROR identifier (04nz0wq19, HudsonAlpha Institute for Biotechnology)

 04a9tmd77https://ror.org/04a9tmd77  ROR identifier (04a9tmd77, Icahn School of Medicine at Mount Sinai)

 05mt7ye26https://ror.org/05mt7ye26  ROR identifier (05mt7ye26, Invitae (United States))

 04tfzc498https://ror.org/04tfzc498  ROR identifier (04tfzc498, Istituti di Ricovero e Cura a Carattere Scientifico)

 0027frf26https://ror.org/0027frf26  ROR identifier (0027frf26, Kaiser Permanente Washington Health Research Institute)

 042y18291https://ror.org/042y18291  ROR identifier (042y18291, Kaiser Permanente Zion Medical Center)

 00p4k0j84https://ror.org/00p4k0j84  ROR identifier (00p4k0j84, Kyushu University)

 03hkffh19https://ror.org/03hkffh19  ROR identifier (03hkffh19, Legacy Emanuel Medical Center)

 037tz0e16https://ror.org/037tz0e16  ROR identifier (037tz0e16, London Health Sciences Centre)

 002pd6e78https://ror.org/002pd6e78  ROR identifier (002pd6e78, Massachusetts General Hospital)

 03cegwq60https://ror.org/03cegwq60  ROR identifier (03cegwq60, McMaster Children's Hospital)

 02fa3aq29https://ror.org/02fa3aq29  ROR identifier (02fa3aq29, McMaster University)

 05xy1nn52https://ror.org/05xy1nn52  ROR identifier (05xy1nn52, Multiscale Bioimaging)

 040gcmg81https://ror.org/040gcmg81  ROR identifier (040gcmg81, National Cancer Institute)

 05wf2ga96https://ror.org/05wf2ga96  ROR identifier (05wf2ga96, New York Genome Center)

 02mh9a093https://ror.org/02mh9a093  ROR identifier (02mh9a093, Pitié-Salpêtrière Hospital)

 05wg1m734https://ror.org/05wg1m734  ROR identifier (05wg1m734, Radboud University Nijmegen Medical Centre)

 00414dg76https://ror.org/00414dg76  ROR identifier (00414dg76, Rady Children's Hospital-San Diego)

 05mshxb09https://ror.org/05mshxb09  ROR identifier (05mshxb09, Sheffield Children's Hospital)

 01kvtm035https://ror.org/01kvtm035  ROR identifier (01kvtm035, South Australia Pathology)

 03e3kts03https://ror.org/03e3kts03  ROR identifier (03e3kts03, South Australian Health and Medical Research Institute)

 040kfrw16https://ror.org/040kfrw16  ROR identifier (040kfrw16, SUNY Upstate Medical University)

 04xfdsg27https://ror.org/04xfdsg27  ROR identifier (04xfdsg27, Telethon Institute Of Genetics And Medicine)

 02dn7x778https://ror.org/02dn7x778  ROR identifier (02dn7x778, Université Bourgogne Franche-Comté)

 05ggc9x40https://ror.org/05ggc9x40  ROR identifier (05ggc9x40, Université Paris-Est Créteil)

 042xt5161https://ror.org/042xt5161  ROR identifier (042xt5161, University Health Network)

 01xnwqx93https://ror.org/01xnwqx93  ROR identifier (01xnwqx93, University Hospital Bonn)

 0125yxn03https://ror.org/0125yxn03  ROR identifier (0125yxn03, University Hospital in Motol)

 021ft0n22https://ror.org/021ft0n22  ROR identifier (021ft0n22, University Medical Center Göttingen)

 0575yy874https://ror.org/0575yy874  ROR identifier (0575yy874, University Medical Center Utrecht)

 00892tw58https://ror.org/00892tw58  ROR identifier (00892tw58, University of Adelaide)

 008s83205https://ror.org/008s83205  ROR identifier (008s83205, University of Alabama at Birmingham)

 04dkp9463https://ror.org/04dkp9463  ROR identifier (04dkp9463, University of Amsterdam)

 02kqnpp86https://ror.org/02kqnpp86  ROR identifier (02kqnpp86, University of Campania "Luigi Vanvitelli")

 046rm7j60https://ror.org/046rm7j60  ROR identifier (046rm7j60, University of California, Los Angeles)

 03a64bh57https://ror.org/03a64bh57  ROR identifier (03a64bh57, University of Catania)

 035b05819https://ror.org/035b05819  ROR identifier (035b05819, University of Copenhagen)

 00f7hpc57https://ror.org/00f7hpc57  ROR identifier (00f7hpc57, University of Erlangen-Nuremberg)

 0107c5v14https://ror.org/0107c5v14  ROR identifier (0107c5v14, University of Genoa)

 01db6h964https://ror.org/01db6h964  ROR identifier (01db6h964, University of Iceland)

 02437s643https://ror.org/02437s643  ROR identifier (02437s643, University of Illinois Chicago, Rockford campus)

 03c4mmv16https://ror.org/03c4mmv16  ROR identifier (03c4mmv16, University of Ottawa)

 00b30xv10https://ror.org/00b30xv10  ROR identifier (00b30xv10, University of Pennsylvania)

 032db5x82https://ror.org/032db5x82  ROR identifier (032db5x82, University of South Florida)

 03taz7m60https://ror.org/03taz7m60  ROR identifier (03taz7m60, University of Southern California)

 03yrrjy16https://ror.org/03yrrjy16  ROR identifier (03yrrjy16, University of Southern Denmark)

 03dbr7087https://ror.org/03dbr7087  ROR identifier (03dbr7087, University of Toronto)

 03r0ha626https://ror.org/03r0ha626  ROR identifier (03r0ha626, University of Utah)

 03kwrfk72https://ror.org/03kwrfk72  ROR identifier (03kwrfk72, Women's and Children's Hospital)

 0135d1r83https://ror.org/0135d1r83  ROR identifier (0135d1r83, Yokohama City University)

 SCR_015530https://scicrunch.org/resolver/SCR_015530  SciCrunch identifier (RRID:SCR_015530, HISAT2)

 jci.org/...nder/1https://www.jci.org/articles/view/171235/sd/pdf/render/1  Supplemental material

 goeseek.gwdguser.de/studies/163https://goeseek.gwdguser.de/studies/163  Supplemental material (goeseek study)

 dm5migu4...l.xlsxhttps://dm5migu4zj3pb.cloudfront.net/manuscripts/171000/171235/JCI171235.sdval.xlsx  Supplemental material (source data)

 dm5migu4...1.xlsxhttps://dm5migu4zj3pb.cloudfront.net/manuscripts/171000/171235/JCI171235.sdt1.xlsx  Supplemental material (table)

 dm5migu4...2.xlsxhttps://dm5migu4zj3pb.cloudfront.net/manuscripts/171000/171235/JCI171235.sdt2.xlsx  Supplemental material (table)

 dm5migu4...3.xlsxhttps://dm5migu4zj3pb.cloudfront.net/manuscripts/171000/171235/JCI171235.sdt3.xlsx  Supplemental material (table)

 dm5migu4...4.xlsxhttps://dm5migu4zj3pb.cloudfront.net/manuscripts/171000/171235/JCI171235.sdt4.xlsx  Supplemental material (table)

 dm5migu4...5.xlsxhttps://dm5migu4zj3pb.cloudfront.net/manuscripts/171000/171235/JCI171235.sdt5.xlsx  Supplemental material (table)

 dm5migu4...6.xlsxhttps://dm5migu4zj3pb.cloudfront.net/manuscripts/171000/171235/JCI171235.sdt6.xlsx  Supplemental material (table)

 dm5migu4...7.xlsxhttps://dm5migu4zj3pb.cloudfront.net/manuscripts/171000/171235/JCI171235.sdt7.xlsx  Supplemental material (table)

 dm5migu4...8.xlsxhttps://dm5migu4zj3pb.cloudfront.net/manuscripts/171000/171235/JCI171235.sdt8.xlsx  Supplemental material (table)

 mbexc.de...tures/https://mbexc.de/spliceosome-malfunction-causes-neurodevelopmental-disorders-with-overlapping-features/  Website entry (mbexc.de)