Publication
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects
Andreea Manole, Stephanie Efthymiou, Emer O’Connor, Marisa I. Mendes, Matthew Jennings, Reza Maroofian, Indran Davagnanam, Kshitij Mankad, Maria Rodriguez Lopez, Vincenzo Salpietro, Ricardo Harripaul, Lauren Badalato, Jagdeep Walia, Christopher S. Francklyn, Alkyoni Athanasiou-Fragkouli, Roisin Sullivan, Sonal Desai, Kristin Baranano, Faisal Zafar, Nuzhat Rana, Muhammed Ilyas, Alejandro Horga, Majdi Kara, Francesca Mattioli, Alice Goldenberg, Helen Griffin, Amelie Piton, Lindsay B. Henderson, Benyekhlef Kara, Ayca Dilruba Aslanger, Joost Raaphorst, Rolph Pfundt, Ruben Portier, Marwan Shinawi, Amelia Kirby, Katherine M. Christensen, Lu Wang, Rasim O. Rosti, Sohail A. Paracha, Muhammad T. Sarwar, Dagan Jenkins, Jawad Ahmed, Federico A. Santoni, Emmanuelle Ranza, Justyna Iwaszkiewicz, Cheryl Cytrynbaum, Rosanna Weksberg, Ingrid M. Wentzensen, Maria J. Guillen Sacoto, Yue Si, Aida Telegrafi, Marisa V. Andrews, Dustin Baldridge, Heinz Gabriel, Julia Mohr, Barbara Oehl-Jaschkowitz, Sylvain Debard, Bruno Senger, Frédéric Fischer, Conny van Ravenwaaij, Annemarie J.M. Fock, Servi J.C. Stevens, Jürg Bähler, Amina Nasar, John F. Mantovani, Adnan Manzur, Anna Sarkozy, Desirée E.C. Smith, Gajja S. Salomons, Zubair M. Ahmed, Shaikh Riazuddin, Saima Riazuddin, Muhammad A. Usmani, Annette Seibt, Muhammad Ansar, Stylianos E. Antonarakis, John B. Vincent, Muhammad Ayub, Mona Grimmel, Anne Marie Jelsig, Tina Duelund Hjortshøj, Helena Gásdal Karstensen, Marybeth Hummel, Tobias B. Haack, Yalda Jamshidi, Felix Distelmaier, Rita Horvath, Joseph G. Gleeson, Hubert Becker, Jean-Louis Mandel, David A. Koolen, Henry Houlden
The American Journal of Human Genetics, August 2020, Elsevier
DOI: 10.1016/j.ajhg.2020.06.016