Litcius/Paper detail

Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish

Sheng-Jia Lin, Barbara Vona, Patrícia Gonçalves Barbalho, Rauan Kaiyrzhanov, Reza Maroofian, Cassidy Petree, Mariasavina Severino, Valentina Stanley, Pratishtha Varshney, Paulina Bahena, Fatema Alzahrani, Amal Alhashem, Alistair T. Pagnamenta, Gudrun Aubertin, Juvianee Estrada‐Veras, Héctor Adrián Díaz Hernández, Neda Mazaheri, Andrea M. Oza, Jenny Thies, Deborah L. Renaud, Sanmati Dugad, Jennifer McEvoy, Tipu Sultan, Lynn Pais, Brahim Tabarki, Daniel Villalobos-Ramirez, Abolfazl Rad, John C. Ambrose, Prabhu Arumugam, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Mark J. Caulfield, G. C. Chan, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim Hubbard, Richard V. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, S. E. A. Leigh, I. U. S. Leong, Fabrice Lopez, F. Maleady-Crowe, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, D. Perez-Gil, Mariana Buongermino Pereira, J. Pullinger, T. Rahim, Augusto Rendon, Tim Rogers, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, M. Tanguy, Ellen Thomas, Simon R. Thompson, Arianna Tucci, Elizabeth T. Walsh, M. J. Welland, E. G. Williams, Katarzyna Witkowska, Shalandra Wood, Hamid Galehdari, Farah Ashrafzadeh, Afsaneh Sahebzamani, Kolsoum Saeidi, Erin Torti, Houda Zghal Elloumi, Sara Mora, Timothy Blake Palculict, Hui Yang, Jonathan D. Wren, Ben Fowler, Manali Joshi, Martine Behra, Shawn M. Burgess, Swapan K. Nath, Michael G. Hanna, Margaret A. Kenna, J. Lawrence Merritt, Henry Houlden, Ehsan Ghayoor Karimiani

2021Genetics in Medicine31 citationsDOIOpen Access PDF

Topics & Concepts

ZebrafishPhenotypeMissense mutationBiologyLoss functionAutismNeurodevelopmental disorderGeneticsAlleleDiseaseKnockout mouseGeneBioinformaticsPathologyMedicinePsychiatryRNA and protein synthesis mechanismsGenomics and Rare DiseasesMetabolism and Genetic Disorders