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Publication
PropertyValue
Working Groups RG Wollnik
SubprojectNone
Open AccessOpen Access Yes
Publication TypeJournal Article
Peer ReviewedYes
PMIDPubMed ID 37962958
DOIDOI 10.1172/jci171235
Publication Year2023
TitleSpliceosome malfunction causes neurodevelopmental disorders with overlapping features
JournalJournal of Clinical Investigation
ISSN0021-9738
eISSN1558-8238
URL http://dx.doi.org/10.1172/jci171235
Issue1
Volume134
Journal AbbreviationJ Clin Invest
AuthorsLi 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 AuthorLi D
Last AuthorHakonarson H

 External Resources

 mbexc.de...tures/  Website entry (mbexc.de)

 gro-2/139206  GRO.publications identifier

 0000-0002-2265-6727  ORCID identifier (Dong Li)

 0000-0003-2777-0198  ORCID identifier (Gökhan Yigit)

 0000-0003-2589-0364  ORCID identifier (Bernd Wollnik)

 0000-0001-7831-6935  ORCID identifier (Mark R. Battig)

 0000-0003-3033-0329  ORCID identifier (Gijs van Haaften)

 0000-0002-1988-3005  ORCID identifier (Luis Perez-Jurado)

 0000-0001-9173-6862  ORCID identifier (Michael E. March)

 0000-0002-2834-6973  ORCID identifier (Gabrielle Lemire)

 0000-0003-0312-3746  ORCID identifier (Mark Tarnopolsky)

 0000-0001-6543-6225  ORCID identifier (Emanuele Agolini)

 0000-0002-9505-5906  ORCID identifier (Maria Lisa Dentici)

 0000-0002-9037-4297  ORCID identifier (Antonio Novelli)

 0000-0002-6065-1476  ORCID identifier (Pasquale Striano)

 0000-0001-6172-8247  ORCID identifier (Boris Keren)

 0000-0001-8486-0558  ORCID identifier (Ingo Helbig)

 0000-0002-3194-8625  ORCID identifier (Peter M. Krawitz)

 0000-0001-6069-7960  ORCID identifier (John Greally)

 0000-0002-7553-3245  ORCID identifier (Manuela Morleo)

 0000-0002-4540-5277  ORCID identifier (Yuri Uchiyama)

 0000-0002-9765-9703  ORCID identifier (Anna C. E. Hurst)

 0000-0003-0099-9945  ORCID identifier (Gregory Costain)

 0000-0001-5973-4728  ORCID identifier (Jeanne Amiel)

 0000-0001-7098-6520  ORCID identifier (Christophe Philippe)

 0000-0002-0584-4398  ORCID identifier (Rolph Pfundt)

 0000-0002-5503-6292  ORCID identifier (Benjamin Cogné)

 0000-0001-7699-2059  ORCID identifier (Yuanquan Song)

 0000-0003-2814-7461  ORCID identifier (Hakon Hakonarson)

 035xkbk20  ROR identifier (035xkbk20, Aix-Marseille University)

 05cf8a891  ROR identifier (05cf8a891, Albert Einstein College of Medicine)

 051ae8e94  ROR identifier (051ae8e94, Ambry Genetics (United States))

 00dvg7y05  ROR identifier (00dvg7y05, Boston Children's Hospital)

 02xawj266  ROR identifier (02xawj266, Central Michigan University)

 01ygm5w19  ROR identifier (01ygm5w19, Centre for Biomedical Network Research on Rare Diseases)

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 01gv74p78  ROR identifier (01gv74p78, Centre Hospitalier Universitaire Sainte-Justine)

 00412ts95  ROR identifier (00412ts95, Children's Hospital of Los Angeles)

 0429x9p85  ROR identifier (0429x9p85, Children's Hospital of Michigan)

 01z7r7q48  ROR identifier (01z7r7q48, Children's Hospital of Philadelphia)

 01hcyya48  ROR identifier (01hcyya48, Cincinnati Children's Hospital Medical Center)

 01esghr10  ROR identifier (01esghr10, Columbia University Irving Medical Center)

 05bpbnx46  ROR identifier (05bpbnx46, Copenhagen University Hospital)

 009z5t729  ROR identifier (009z5t729, Cook Children's Medical Center)

 04dzdm737  ROR identifier (04dzdm737, deCODE Genetics (Iceland))

 00py81415  ROR identifier (00py81415, Duke University)

 018906e22  ROR identifier (018906e22, Erasmus MC)

 031t5w623  ROR identifier (031t5w623, German Centre for Cardiovascular Research)

 03p64mj41  ROR identifier (03p64mj41, Greenwood Genetic Center)

 00yfbr841  ROR identifier (00yfbr841, Hôpital Armand-Trousseau)

 05jrr4320  ROR identifier (05jrr4320, Hôpital de la Timone)

 05tr67282  ROR identifier (05tr67282, Hôpital Necker-Enfants Malades)

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 057q4rt57  ROR identifier (057q4rt57, Hospital for Sick Children)

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 04nz0wq19  ROR identifier (04nz0wq19, HudsonAlpha Institute for Biotechnology)

 04a9tmd77  ROR identifier (04a9tmd77, Icahn School of Medicine at Mount Sinai)

 05mt7ye26  ROR identifier (05mt7ye26, Invitae (United States))

 04tfzc498  ROR identifier (04tfzc498, Istituti di Ricovero e Cura a Carattere Scientifico)

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 042y18291  ROR identifier (042y18291, Kaiser Permanente Zion Medical Center)

 00p4k0j84  ROR identifier (00p4k0j84, Kyushu University)

 03hkffh19  ROR identifier (03hkffh19, Legacy Emanuel Medical Center)

 037tz0e16  ROR identifier (037tz0e16, London Health Sciences Centre)

 002pd6e78  ROR identifier (002pd6e78, Massachusetts General Hospital)

 03cegwq60  ROR identifier (03cegwq60, McMaster Children's Hospital)

 02fa3aq29  ROR identifier (02fa3aq29, McMaster University)

 05xy1nn52  ROR identifier (05xy1nn52, Multiscale Bioimaging)

 040gcmg81  ROR identifier (040gcmg81, National Cancer Institute)

 05wf2ga96  ROR identifier (05wf2ga96, New York Genome Center)

 02mh9a093  ROR identifier (02mh9a093, Pitié-Salpêtrière Hospital)

 05wg1m734  ROR identifier (05wg1m734, Radboud University Nijmegen Medical Centre)

 00414dg76  ROR identifier (00414dg76, Rady Children's Hospital-San Diego)

 05mshxb09  ROR identifier (05mshxb09, Sheffield Children's Hospital)

 01kvtm035  ROR identifier (01kvtm035, South Australia Pathology)

 03e3kts03  ROR identifier (03e3kts03, South Australian Health and Medical Research Institute)

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 04xfdsg27  ROR identifier (04xfdsg27, Telethon Institute Of Genetics And Medicine)

 02dn7x778  ROR identifier (02dn7x778, Université Bourgogne Franche-Comté)

 05ggc9x40  ROR identifier (05ggc9x40, Université Paris-Est Créteil)

 042xt5161  ROR identifier (042xt5161, University Health Network)

 01xnwqx93  ROR identifier (01xnwqx93, University Hospital Bonn)

 0125yxn03  ROR identifier (0125yxn03, University Hospital in Motol)

 021ft0n22  ROR identifier (021ft0n22, University Medical Center Göttingen)

 0575yy874  ROR identifier (0575yy874, University Medical Center Utrecht)

 00892tw58  ROR identifier (00892tw58, University of Adelaide)

 008s83205  ROR identifier (008s83205, University of Alabama at Birmingham)

 04dkp9463  ROR identifier (04dkp9463, University of Amsterdam)

 02kqnpp86  ROR identifier (02kqnpp86, University of Campania "Luigi Vanvitelli")

 046rm7j60  ROR identifier (046rm7j60, University of California, Los Angeles)

 03a64bh57  ROR identifier (03a64bh57, University of Catania)

 035b05819  ROR identifier (035b05819, University of Copenhagen)

 00f7hpc57  ROR identifier (00f7hpc57, University of Erlangen-Nuremberg)

 0107c5v14  ROR identifier (0107c5v14, University of Genoa)

 01db6h964  ROR identifier (01db6h964, University of Iceland)

 02437s643  ROR identifier (02437s643, University of Illinois Chicago, Rockford campus)

 03c4mmv16  ROR identifier (03c4mmv16, University of Ottawa)

 00b30xv10  ROR identifier (00b30xv10, University of Pennsylvania)

 032db5x82  ROR identifier (032db5x82, University of South Florida)

 03taz7m60  ROR identifier (03taz7m60, University of Southern California)

 03yrrjy16  ROR identifier (03yrrjy16, University of Southern Denmark)

 03dbr7087  ROR identifier (03dbr7087, University of Toronto)

 03r0ha626  ROR identifier (03r0ha626, University of Utah)

 03kwrfk72  ROR identifier (03kwrfk72, Women's and Children's Hospital)

 0135d1r83  ROR identifier (0135d1r83, Yokohama City University)

 jci.org/...nder/1  Supplemental material

 dm5migu4...1.xlsx  Supplemental material (table)

 dm5migu4...2.xlsx  Supplemental material (table)

 dm5migu4...3.xlsx  Supplemental material (table)

 dm5migu4...4.xlsx  Supplemental material (table)

 dm5migu4...5.xlsx  Supplemental material (table)

 dm5migu4...6.xlsx  Supplemental material (table)

 dm5migu4...7.xlsx  Supplemental material (table)

 dm5migu4...8.xlsx  Supplemental material (table)

 dm5migu4...l.xlsx  Supplemental material (table)

 mbexc.de...tures/  Website entry (mbexc.de)