Biallelic Pathogenic Variants in TRMT1 Disrupt Trna Modification and Induce a Syndromic Neurodevelopmental Disorder
Stephanie Efthymiou, Cailyn Leo, Chenghong Deng,Kejia Zhang,Sheng-Jia Lin,Reza Maroofian,Rauan Kaiyrzhanov, Renee Qing Lin, Irem Karagoz,Annarita Scardamaglia, Daniel Owrang,Valentina Turchetti, Friederike Jahnke,Cassidy Petree,Anna V Derrick,Mark I Rees,Javeria Raza Alvi,Tipu Sultan,Chumei Li,Marie-Line Jacquemont,Frederic Tran-Mau-Them,Maria Irene Valenzuela, Rich Sidlow,Grace Yoon,Michelle Morrow, Alexis Carere, Mary O'Connor,Julie Fleischer,Erica H. Gerkes,Chanika Phornphutkul,Bertrand Isidor, Clotilde Rivier-Ringenbach,Christophe Philippe,Semra Hiz Kurul,Didem Soydemir,Bulent Kara,Deniz Sunnetci-Akkoyunlu,Viktoria Bothe,Konrad Platzer,Dagmar Wieczorek,Margarete Koch-Hogrebe,Nils Rahner,Ann-Charlotte Thuresson,Hans Matsson,Carina Frykholm,Sevcan Tug Bozdogan,Atil Bisgin,Nicolas Chatron,Gaetan Lesca,Sara Cabet,Zeynep Tumer,Tina Duelund Hjortshoj,Gitte Ronde,Thorsten Marquardt,Janine Reunert,Erum Afzal,Mina Zamani,Reza Azizimalamiri,Hamid Galehdari, Pardis Nourbakhshd, Niloofar Chamanrou,Seo-Kyung Chung,Mohnish Suri,Paul J Benke,Maha S Zaki,Joseph G Gleeson,Daniel G Calame,Davut Pehlivan, Halil Ibrahim Yilmaz,Alper Gezdirici,Aboulfazl Rad,Iman Sabri Abumansour,Gabriela Oprea,Jai Sidpra,Kshitij Mankad,Barbara Vona,Andrew Fry,Gaurav K Varshney,Henry Houlden,Dragony Fu medrxiv（2024）
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