Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures

Xiaochang Zhang(Boston Children's Hospital), Jiqiang Ling(Yale University), Giulia Barcia(Délégation Paris 5), Lili Jing(Boston Children's Hospital), Jiang Wu(The University of Texas Health Science Center at Houston), Brenda J. Barry(Boston Children's Hospital), Ganeshwaran H. Mochida(Boston Children's Hospital), R. Sean Hill(Boston Children's Hospital), Jill M. Weimer(Sanford Health), Quinn Stein, Annapurna Poduri(Boston Children's Hospital), Jennifer N. Partlow(Boston Children's Hospital), Dorothée Ville(Hôpital Lyon Sud), Olivier Dulac(Délégation Paris 5), Timothy W. Yu(Boston Children's Hospital), Anh-Thu N. Lam(Boston Children's Hospital), Sarah Servattalab(Boston Children's Hospital), Jacqueline Rodriguez(Boston Children's Hospital), Nathalie Boddaert(Hôpital Necker-Enfants Malades), Arnold Münnich(Hôpital Necker-Enfants Malades), Laurence Colleaux(Hôpital Necker-Enfants Malades), Leonard I. Zon(Boston Children's Hospital), Dieter Söll(Yale University), Christopher A. Walsh(Broad Institute), Rima Nabbout(Délégation Paris 5)
The American Journal of Human Genetics
March 22, 2014
Cited by 136Open Access
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