Poskitt, Laura

Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease

Williams, Katie B. , Brigatti, Karlla W. , Puffenberger, Erik G. , Gonzaga‐Jauregui, Claudia , Griffin, Laurie B. , Martinez, Erick D, Wenger, Olivia , Yoder, Mark , Kandula, Vinay , Fox, Michael D. , Demczko, Matthew M. , Poskitt, Laura , Furuya, Katryn N. , Reid, Jeffrey G. , Overton, John D. , Baras, Aris , Miles, Lili, Radhakrishnan, Kadakkal , Carson, Vincent J. , Antonellis, Anthony , Jinks, Robert N., Strauss, Kevin A.

Human Molecular Genetics | October 2, 2018 | Volume: 28 | Issue: 4 | Pages: 525-538

10.1093/hmg/ddy344