De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects
Titel:
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects
Auteur:
Manole, Andreea Efthymiou, Stephanie O’Connor, Emer Mendes, Marisa I. Jennings, Matthew Maroofian, Reza Davagnanam, Indran Mankad, Kshitij Lopez, Maria Rodriguez Salpietro, Vincenzo Harripaul, Ricardo Badalato, Lauren Walia, Jagdeep Francklyn, Christopher S. Athanasiou-Fragkouli, Alkyoni Sullivan, Roisin Desai, Sonal Baranano, Kristin Zafar, Faisal Rana, Nuzhat Ilyas, Muhammed Horga, Alejandro Kara, Majdi Mattioli, Francesca Goldenberg, Alice Griffin, Helen Piton, Amelie Henderson, Lindsay B. Kara, Benyekhlef Aslanger, Ayca Dilruba Raaphorst, Joost Pfundt, Rolph Portier, Ruben Shinawi, Marwan Kirby, Amelia Christensen, Katherine M. Wang, Lu Rosti, Rasim O. Paracha, Sohail A. Sarwar, Muhammad T. Jenkins, Dagan Ahmed, Jawad Santoni, Federico A. Ranza, Emmanuelle Iwaszkiewicz, Justyna Cytrynbaum, Cheryl Weksberg, Rosanna Wentzensen, Ingrid M. Guillen Sacoto, Maria J. Si, Yue Telegrafi, Aida Andrews, Marisa V. Baldridge, Dustin Gabriel, Heinz Mohr, Julia Oehl-Jaschkowitz, Barbara Debard, Sylvain Senger, Bruno Fischer, Frédéric van Ravenwaaij, Conny Fock, Annemarie J.M. Stevens, Servi J.C. Bähler, Jürg Nasar, Amina Mantovani, John F. Manzur, Adnan Sarkozy, Anna Smith, Desirée E.C. Salomons, Gajja S. Ahmed, Zubair M. Riazuddin, Shaikh Riazuddin, Saima Usmani, Muhammad A. Seibt, Annette Ansar, Muhammad Antonarakis, Stylianos E. Vincent, John B. Ayub, Muhammad Grimmel, Mona Jelsig, Anne Marie Hjortshøj, Tina Duelund Karstensen, Helena Gásdal Hummel, Marybeth Haack, Tobias B. Jamshidi, Yalda Distelmaier, Felix Horvath, Rita Gleeson, Joseph G. Becker, Hubert Mandel, Jean-Louis Koolen, David A. Houlden, Henry