Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

  1. Stephanie Efthymiou
  2. Cailyn P. Leo
  3. Chenghong Deng
  4. Sheng-Jia Lin
  5. Reza Maroofian
  6. Renee Lin
  7. Irem Karagoz
  8. Kejia Zhang
  9. Rauan Kaiyrzhanov
  10. Annarita Scardamaglia
  11. Daniel Owrang
  12. Valentina Turchetti
  13. Friederike Jahnke
  14. Kevin Huang
  15. Cassidy Petree
  16. Anna V. Derrick
  17. Mark I. Rees
  18. Javeria Raza Alvi
  19. Tipu Sultan
  20. Chumei Li
  21. Marie-Line Jacquemont
  22. Frederic Tran-Mau-Them
  23. Maria Valenzuela-Palafoll
  24. Rich Sidlow
  25. Grace Yoon
  26. Michelle M. Morrow
  27. Deanna Alexis Carere
  28. Mary O'Connor
  29. Julie Fleischer
  30. Erica H. Gerkes
  31. Chanika Phornphutkul
  32. Bertrand Isidor
  33. Clotilde Rivier-Ringenbach
  34. Christophe Philippe
  35. Semra Hiz Kurul
  36. Didem Soydemir
  37. Bulent Kara
  38. Deniz Sunnetci-Akkoyunlu
  39. Viktoria Bothe
  40. Konrad Platzer
  41. Dagmar Wieczorek
  42. Margarete Koch-Hogrebe
  43. Nils Rahner
  44. Ann-Charlotte Thuresson
  45. Hans Matsson
  46. Carina Frykholm
  47. Sevcan Tuğ Bozdoğan
  48. Atil Bisgin
  49. Nicolas Chatron
  50. Gaetan Lesca
  51. Sara Cabet
  52. Zeynep Tümer
  53. Tina D. Hjortshøj
  54. Gitte Rønde
  55. Thorsten Marquardt
  56. Janine Reunert
  57. Erum Afzal
  58. Mina Zamani
  59. Reza Azizimalamiri
  60. Hamid Galehdari
  61. Pardis Nourbakhsh
  62. Niloofar Chamanrou
  63. Seo-Kyung Chung
  64. Mohnish Suri
  65. Paul J. Benke
  66. Maha S. Zaki
  67. Joseph G. Gleeson
  68. Daniel G. Calame
  69. Davut Pehlivan
  70. Halil I. Yilmaz
  71. Alper Gezdirici
  72. Aboulfazl Rad
  73. Iman Sabri Abumansour
  74. Gabriela Oprea
  75. Muhammed Burak Bereketoğlu
  76. Guillaume Banneau
  77. Sophie Julia
  78. Jawaher Zeighami
  79. Saeed Ashoori
  80. Gholamreza Shariati
  81. Alireza Sedaghat
  82. Alihossein Sabri
  83. Mohammad Hamid
  84. Sahere Parvas
  85. Tajul Arifin Tajudin
  86. Uzma Abdullah
  87. Shahid Mahmood Baig
  88. Wendy K. Chung
  89. Olga O. Glazunova
  90. Sigaudy Sabine
  91. Huma Arshad Cheema
  92. Giovanni Zifarelli
  93. Peter Bauer
  94. Jai Sidpra
  95. Kshitij Mankad
  96. Barbara Vona
  97. Andrew E. Fry
  98. Gaurav K. Varshney
  99. Henry Houlden
  100. Dragony Fu
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  1. Version published to 10.1016/j.ajhg.2025.03.015
  2. Version published to 10.1101/2024.07.18.24310581 on medRxiv