| Property |
Value |
| Working Groups |
RG Wollnik |
| Subproject |
None |
| Open Access |
Yes |
| Publication Type |
Journal Article |
| Peer Reviewed |
Yes |
| PMID |
37962958 |
| DOI |
10.1172/jci171235 |
| Publication Year |
2023 |
| Title |
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features |
| Journal |
Journal of Clinical Investigation |
| ISSN |
0021-9738 |
| eISSN |
1558-8238 |
| URL |
http://dx.doi.org/10.1172/jci171235 |
| Issue |
1 |
| Volume |
134 |
| Journal Abbreviation |
J Clin Invest |
| Authors |
Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O’Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh T, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel A, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez Garcia Moya L, García-Miñaúr S, Osmond M, Chad L, Quercia N, Carrasco D, Li C, Sanchez-Valle A, Kelley M, Nizon M, Jensson BO, Sulem P, Stefansson K, Gorokhova S, Busa T, Rio M, Hadj Habdallah H, Lesieur-Sebellin M, Amiel J, Pingault V, Mercier S, Vincent M, Philippe C, Fatus-Fauconnier C, Friend K, Halligan RK, Biswas S, Rosser J, Shoubridge C, Corbett M, Barnett C, Gecz J, Leppig K, Slavotinek A, Marcelis C, Pfundt R, de Vries BB, van Slegtenhorst MA, Brooks AS, Cogne B, Rambaud T, Tümer Z, Zackai EH, Akizu N, Song Y, Hakonarson H |
| First Author |
Li D |
| Last Author |
Hakonarson H |
External Resources
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)
2/139206https://publications.goettingen-research-online.de/handle/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)