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(National Hospital for Neurology and Neurosurgery), Yue Si, Kristin Barañano(Johns Hopkins University), Maria Rodríguez‐López(MRC Unit for Lifelong Health and Ageing), Rolph Pfundt(Radboud University Nijmegen), Cheryl Cytrynbaum(Hospital for Sick Children), Ayça Dilruba Aslanger(Koç University), Sonal Desai(Kennedy Krieger Institute), Indran Davagnanam(University College London), Ingrid M. Wentzensen, R Portier(Medisch Spectrum Twente), Stéphanie Efthymiou(Queen Mary University of London), Sohail Aziz Paracha(Khyber Medical University), Amélie Piton(Centre National de la Recherche Scientifique), Nuzhat Rana, Matthew J. Jennings(University of Cambridge), Roisin Sullivan(National Hospital for Neurology and Neurosurgery), Francesca Mattioli(Centre National de la Recherche Scientifique), Dagan Jenkins(Great Ormond Street Hospital), Jawad Ahmed(King Edward Medical University), Helen Griffin(NIHR Newcastle Biomedical Research Centre), Ricardo Harripaul(Hospital for Sick Children), Alkyoni Athanasiou‐Fragkouli(National Hospital for Neurology and Neurosurgery), Lauren Badalato(Queen's University), Majdi Kara(Boston Children's Hospital), Kshitij Mankad(Great Ormond Street Hospital for Children NHS Foundation Trust), Lindsay B. Henderson(Johns Hopkins University), María J. Guillen Sacoto, Muhammad Ilyas(International Islamic University, Islamabad), Alejandro Horga(Hospital Clínico San Carlos), Federico Santoni(University of Geneva), Emmanuelle Ranza(University Hospital of Geneva), Justyna Iwaszkiewicz(SIB Swiss Institute of Bioinformatics), Jagdeep S. Walia(Queen's University), Lu Wang(Zhejiang Chinese Medical University), Marisa I. Mendes(Amsterdam Neuroscience), Reza Maroofian(National Hospital for Neurology and Neurosurgery), Katherine Christensen(Cardinal Glennon Children’s Medical Center), Alice Goldenberg(Inserm), Christopher S. Francklyn(University of Vermont), Emer O’Connor(University College London), Faisal Zafar, Muhammad Tahir Sarwar(Khyber Medical University), Amelia Kirby(Baylor College of Medicine), Rasim Özgür Rosti(Istanbul University), Rosanna Weksberg(Hospital for Sick Children), Vincenzo Salpietro(National Hospital for Neurology and Neurosurgery), Joost Raaphorst(Amsterdam UMC Location University of Amsterdam), Benyekhlef Kara(Bezmiâlem Vakıf Üniversitesi), Marwan Shinawi(St. Louis Children's Hospital)
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