| Property |
Value |
| Working Groups |
RG Brose, 
RG Lipstein |
| Subproject |
A9, A11 |
| Open Access |
Yes |
| Publication Type |
Journal Article |
| Peer Reviewed |
Yes |
| PMID |
41125872 |
| DOI |
10.1038/s41588-025-02361-5 |
| Publication Year |
2025 |
| Title |
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function |
| Journal |
Nature Genetics |
| ISSN |
1061-4036 |
| eISSN |
1546-1718 |
| URL |
https://doi.org/10.1038/s41588-025-02361-5 |
| Pages |
2691-2704 |
| Issue |
11 |
| Volume |
57 |
| Journal Abbreviation |
Nat Genet |
| Authors |
Asadollahi R, Ahmad A, Boonsawat P, Shahanoor Hinzen J, Lohse M, Bouazza-Arostegui B, Sun S, Utesch T, Sommer JD, Ilic D, Padmanarayana M, Fischermanns K, Ranjan M, Boll M, Ka C, Piton A, Mattioli F, Isidor B, Õunap K, Reinson K, Wojcik MH, Marshall CR, Mercimek-Andrews S, Matsumoto N, Miyake N, Stephan BdO, Honjo RS, Bertola DR, Kim CA, Yusupov R, Mefford HC, Christodoulou J, Lee J, Heath O, Brown NJ, Baker N, Stark Z, Delatycki M, Lake NJ, Zeidler S, Zuurbier L, Maas SM, de Kruiff CC, Rajabi F, Rodan LH, Coury SA, Platzer K, Oppermann H, Abou Jamra R, Beblo S, Maxton C, Śmigiel R, Underhill H, Dubbs H, Rosen A, Helbig KL, Helbig I, Ruggiero SM, Fitzgerald MP, Kraemer D, Prada CE, Tenney J, Jayakar P, Redon S, Lefranc J, Uguen K, Race S, Efthymiou S, Maroofian R, Houlden H, Coppens S, Deconinck N, Ashokkumar B, Varalakshmi P, Gowda K VR, Eghbal F, Ghayoor Karimiani E, Heidari M, Neidhardt J, Owczarek-Lipska M, Korenke GC, Bamshad MJ, Campeau PM, Lehman A, Hendon LG, Wentzensen IM, Monaghan KG, Chen Y, Szuto A, Cohn RD, Au PYB, Hübner C, Boschann F, Manickam K, Koboldt DC, Rad A, Oprea G, Bachman KK, Seeley AH, Agolini E, Terracciano A, Carmelo P, Bupp C, Grysko B, Rein-Rothschild A, Ben Zeev B, Margolin A, Morrison J, Dagli A, Stolerman E, Louie RJ, Washington C, Stevens SJC, Heijligers M, Alkuraya FS, Lisfeld J, Neu A, Paoli Monteiro F, Santos Pessoa AL, Camelo-Filho AE, Kok F, Koeberl D, Riley K, Burglen L, Doummar D, Héron B, Mignot C, Keren B, Charles P, Nava C, Bernhard FP, Kühn AA, Thoms S, Morrie RD, Mekhoubad S, Green EM, Barmada SJ, Gitler AD, Jahn O, Rhee JS, Rosenmund C, Mitkovski M, Sticht H, Sun H, Le Gac G, Taschenberger H, Brose N, Dittman JS, Rauch A, Lipstein N |
| First Author |
Asadollahi R |
| Last Author |
Lipstein N |
External Resources
1299https://prod.mbexc.uni-goettingen.de/literature/publications/1299 Published Data Registry entry (MBExC)
05grdyy37https://ror.org/05grdyy37 ROR identifier (05grdyy37, Amsterdam University Medical Centers)
0086ms749https://ror.org/0086ms749 ROR identifier (0086ms749, Arnold Palmer Hospital for Children)
02sy42d13https://ror.org/02sy42d13 ROR identifier (02sy42d13, Bambino Gesù Children's Hospital)
04n901w50https://ror.org/04n901w50 ROR identifier (04n901w50, BC Children's Hospital)
0493xsw21https://ror.org/0493xsw21 ROR identifier (0493xsw21, Berlin Institute of Health at Charité - Universitätsmedizin Berlin)
02hpadn98https://ror.org/02hpadn98 ROR identifier (02hpadn98, Bielefeld University)
04b6nzv94https://ror.org/04b6nzv94 ROR identifier (04b6nzv94, Brigham and Women's Hospital)
05a0ya142https://ror.org/05a0ya142 ROR identifier (05a0ya142, Broad Institute)
00dvg7y05https://ror.org/00dvg7y05 ROR identifier (00dvg7y05, Boston Children's Hospital)
033n9gh91https://ror.org/033n9gh91 ROR identifier (033n9gh91, Carl von Ossietzky Universität Oldenburg)
03evbwn87https://ror.org/03evbwn87 ROR identifier (03evbwn87, Centre Hospitalier Régional Universitaire de Brest)
01gv74p78https://ror.org/01gv74p78 ROR identifier (01gv74p78, Centre Hospitalier Universitaire Sainte-Justine)
001w7jn25https://ror.org/001w7jn25 ROR identifier (001w7jn25, Charité - Universitätsmedizin Berlin)
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)
00py81415https://ror.org/00py81415 ROR identifier (00py81415, Duke University)
00bmv4102https://ror.org/00bmv4102 ROR identifier (00bmv4102, Emma Kinderziekenhuis)
018906e22https://ror.org/018906e22 ROR identifier (018906e22, Erasmus MC)
03j9npf54https://ror.org/03j9npf54 ROR identifier (03j9npf54, Geisinger Medical Center)
03p64mj41https://ror.org/03p64mj41 ROR identifier (03p64mj41, Greenwood Genetic Center)
03vek6s52https://ror.org/03vek6s52 ROR identifier (03vek6s52, Harvard University)
03bk8p931https://ror.org/03bk8p931 ROR identifier (03bk8p931, Helen DeVos Children's Hospital)
00yfbr841https://ror.org/00yfbr841 ROR identifier (00yfbr841, Hôpital Armand-Trousseau)
057q4rt57https://ror.org/057q4rt57 ROR identifier (057q4rt57, Hospital for Sick Children)
03trtgn80https://ror.org/03trtgn80 ROR identifier (03trtgn80, Hospital Infantil Albert Sabin)
04saq4y86https://ror.org/04saq4y86 ROR identifier (04saq4y86, Indira Gandhi Institute of Child Health)
0015ws592https://ror.org/0015ws592 ROR identifier (0015ws592, Institut de génétique et de biologie moléculaire et cellulaire)
04ts0w644https://ror.org/04ts0w644 ROR identifier (04ts0w644, Joe DiMaggio Children's Hospital)
05n0wgt02https://ror.org/05n0wgt02 ROR identifier (05n0wgt02, King Faisal Specialist Hospital & Research Centre)
01t0n2c80https://ror.org/01t0n2c80 ROR identifier (01t0n2c80, Klinikum Oldenburg)
010s54n03https://ror.org/010s54n03 ROR identifier (010s54n03, Leibniz-Forschungsinstitut für Molekulare Pharmakologie)
03a6zw892https://ror.org/03a6zw892 ROR identifier (03a6zw892, Lurie Children's Hospital)
02d9ce178https://ror.org/02d9ce178 ROR identifier (02d9ce178, Maastricht University Medical Centre)
04c8e9019https://ror.org/04c8e9019 ROR identifier (04c8e9019, Madurai Kamaraj University)
03av75f26https://ror.org/03av75f26 ROR identifier (03av75f26, Max Planck Institute for Multidisciplinary Sciences)
03zb78h42https://ror.org/03zb78h42 ROR identifier (03zb78h42, Mendelics)
048d1b238https://ror.org/048d1b238 ROR identifier (048d1b238, Miami Children's Hospital)
05xy1nn52https://ror.org/05xy1nn52 ROR identifier (05xy1nn52, Multiscale Bioimaging)
048fyec77https://ror.org/048fyec77 ROR identifier (048fyec77, Murdoch Children's Research Institute)
03gnr7b55https://ror.org/03gnr7b55 ROR identifier (03gnr7b55, Nantes Université)
00r9w3j27https://ror.org/00r9w3j27 ROR identifier (00r9w3j27, National Center for Global Health and Medicine)
003rfsp33https://ror.org/003rfsp33 ROR identifier (003rfsp33, Nationwide Children’s Hospital)
000e0be47https://ror.org/000e0be47 ROR identifier (000e0be47, Northwestern University)
01rdrb571https://ror.org/01rdrb571 ROR identifier (01rdrb571, Philipps University of Marburg)
01t5yh786https://ror.org/01t5yh786 ROR identifier (01t5yh786, Queen Fabiola Children's University Hospital)
02rktxt32https://ror.org/02rktxt32 ROR identifier (02rktxt32, Royal Children's Hospital)
020rzx487https://ror.org/020rzx487 ROR identifier (020rzx487, Sheba Medical Center)
02en5vm52https://ror.org/02en5vm52 ROR identifier (02en5vm52, Sorbonne Université)
00f54p054https://ror.org/00f54p054 ROR identifier (00f54p054, Stanford University)
02r3e0967https://ror.org/02r3e0967 ROR identifier (02r3e0967, St. Jude Children's Research Hospital)
01c4pz451https://ror.org/01c4pz451 ROR identifier (01c4pz451, Tehran University of Medical Sciences)
04mhzgx49https://ror.org/04mhzgx49 ROR identifier (04mhzgx49, Tel Aviv University)
00rs6vg23https://ror.org/00rs6vg23 ROR identifier (00rs6vg23, The Ohio State University)
042aqky30https://ror.org/042aqky30 ROR identifier (042aqky30, TU Dresden)
0370htr03https://ror.org/0370htr03 ROR identifier (0370htr03, UCL Queen Square Institute of Neurology)
036rp1748https://ror.org/036rp1748 ROR identifier (036rp1748, Universidade de São Paulo)
03srtnf24https://ror.org/03srtnf24 ROR identifier (03srtnf24, Universidade Federal do Ceará)
03nhjew95https://ror.org/03nhjew95 ROR identifier (03nhjew95, Université de Montréal)
01r9htc13https://ror.org/01r9htc13 ROR identifier (01r9htc13, Université Libre de Bruxelles)
04za5zm41https://ror.org/04za5zm41 ROR identifier (04za5zm41, University Hospital Carl Gustav Carus)
028hv5492https://ror.org/028hv5492 ROR identifier (028hv5492, University Hospital Leipzig)
01zgy1s35https://ror.org/01zgy1s35 ROR identifier (01zgy1s35, University Medical Center Hamburg-Eppendorf)
021ft0n22https://ror.org/021ft0n22 ROR identifier (021ft0n22, University Medical Center Göttingen)
0160cpw27https://ror.org/0160cpw27 ROR identifier (0160cpw27, University of Alberta)
03rmrcq20https://ror.org/03rmrcq20 ROR identifier (03rmrcq20, University of British Columbia)
03yjb2x39https://ror.org/03yjb2x39 ROR identifier (03yjb2x39, University of Calgary)
01e3m7079https://ror.org/01e3m7079 ROR identifier (01e3m7079, University of Cincinnati)
03wmf1y16https://ror.org/03wmf1y16 ROR identifier (03wmf1y16, University of Colorado Anschutz Medical Campus)
00f7hpc57https://ror.org/00f7hpc57 ROR identifier (00f7hpc57, University of Erlangen-Nuremberg)
00bmj0a71https://ror.org/00bmj0a71 ROR identifier (00bmj0a71, University of Greenwich)
01ej9dk98https://ror.org/01ej9dk98 ROR identifier (01ej9dk98, University of Melbourne)
00jmfr291https://ror.org/00jmfr291 ROR identifier (00jmfr291, University of Michigan)
044pcn091https://ror.org/044pcn091 ROR identifier (044pcn091, University of Mississippi Medical Center)
00b30xv10https://ror.org/00b30xv10 ROR identifier (00b30xv10, University of Pennsylvania)
03z77qz90https://ror.org/03z77qz90 ROR identifier (03z77qz90, University of Tartu)
03dbr7087https://ror.org/03dbr7087 ROR identifier (03dbr7087, University of Toronto)
03r0ha626https://ror.org/03r0ha626 ROR identifier (03r0ha626, University of Utah)
00cvxb145https://ror.org/00cvxb145 ROR identifier (00cvxb145, University of Washington)
02crff812https://ror.org/02crff812 ROR identifier (02crff812, University of Zurich)
02r109517https://ror.org/02r109517 ROR identifier (02r109517, Weill Cornell Medicine)
01qpw1b93https://ror.org/01qpw1b93 ROR identifier (01qpw1b93, Wroclaw Medical University)
03v76x132https://ror.org/03v76x132 ROR identifier (03v76x132, Yale University)
0135d1r83https://ror.org/0135d1r83 ROR identifier (0135d1r83, Yokohama City University)