Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish
Aleksandra Siekierska, Hannah Stamberger, Tine Deconinck, Stephanie N Oprescu, Michèle Partoens, Yifan Zhang, Jo Sourbron, Elias Adriaenssens, Patrick Mullen, Patrick Wiencek, Katia Hardies, Jeong-Soo Lee, Hoi-Khoanh Giong, Felix Distelmaier, Orly Elpeleg, Ingo Helbig, Joseph Hersh, Sedat Isikay, Elizabeth Jordan, Ender Karaca, Angela Kecskes, James R Lupski, Reka Kovacs-Nagy, Patrick May, Vinodh Narayanan, Manuela Pendziwiat, Keri Ramsey, Sampathkumar Rangasamy, Deepali N Shinde, Ronen Spiegel, Vincent Timmerman, Sarah von Spiczak, Sarah Weckhuysen, Christopher Francklyn, Anthony Antonellis, Peter de Witte, Peter De Jonghe
Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models
Kathryn H Morelli, Laurie B Griffin, Nettie K Pyne, Lindsay M Wallace, Allison M Fowler, Stephanie N Oprescu, Ryuichi Takase, Na Wei, Rebecca Meyer-Schuman, Dattatreya Mellacheruvu, Jacob Kitzman, Samuel G Kocen, Timothy J Hines, Emily L Spaulding, James R Lupski, Alexey Nesvizhskii, Pedro Mancias, Ian J Butler, Xiang-Lei Yang, Ya-Ming Hou, Anthony Antonellis, Scott Q Harper, Robert W Burgess
Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
Chong Sun, Jie Song, Yanjun Jiang, Chongbo Zhao, Jiahong Lu, Meixia Li, Yin Wang, Mingshi Gao, Jianying Xi, Sushan Luo, Kevin Donaldson, Stephanie N Oprescu, Thomas P Slavin, Sansan Lee, Pilar L Magoulas, Andrea M Lewis, Lisa Emrick, Seema R Lalani, Zhiyv Niu, Megan L Landsverk, Magdalena Walkiewicz, Richard E Person, Hui Mei, Jill A Rosenfeld, Yaping Yang, Anthony Antonellis, Ya-Ming Hou, Jie Lin, Victor W Zhang
Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails
Molly E Kuo, Arjan F Theil, Anneke Kievit, May Christine Malicdan, Wendy J Introne, Thomas Christian, Frans W Verheijen, Desiree EC Smith, Marisa I Mendes, Lidia Hussaarts-Odijk, Eric van der Meijden, Marjon van Slegtenhorst, Martina Wilke, Wim Vermeulen, Anja Raams, Catherine Groden, Shino Shimada, Rebecca Meyer-Schuman, Ya Ming Hou, William A Gahl, Anthony Antonellis, Gajja S Salomons, Grazia MS Mancini
Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.
Katie B Williams, Karlla W Brigatti, Erik G Puffenberger, Claudia Gonzaga-Jauregui, Laurie B Griffin, Erick D Martinez, Olivia K Wenger, Mark A Yoder, Vinay VR Kandula, Michael D Fox, Matthew M Demczko, Laura Poskitt, Katryn N Furuya, Jeffrey G Reid, John D Overton, Aris Baras, Lili Miles, Kadakkal Radhakrishnan, Vincent J Carson, Anthony Antonellis, Robert N Jinks, Kevin A Strauss
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