Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology

(2017) Ingrid E. Scheffer et al.   EPILEPSIA

Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy

(2017) Tojo Nakayama et al.   HUMAN MUTATION

Automated analysis of brain activity for seizure detection in zebrafish models of epilepsy

(2017) Borbála Hunyadi et al.   JOURNAL OF NEUROSCIENCE METHODS

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy

(2016) Robert Kopajtich et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene

(2016) Małgorzata J. M. Nowaczyk et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect

(2015) Cas Simons et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss of function mutations inHARScause a spectrum of inherited peripheral neuropathies

(2015) Dana Safka Brozkova et al.   BRAIN

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

(2015) Ender Karaca et al.   NEURON

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

(2015) Claudia Gonzaga-Jauregui et al.   Cell Reports

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

(2014) Xiaochang Zhang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations inRARScause hypomyelination

(2014) Nicole I. Wolf et al.   ANNALS OF NEUROLOGY

Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function

(2014) Ender Karaca et al.   CELL

CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration

(2014) Ashleigh E. Schaffer et al.   CELL

VARS2andTARS2Mutations in Patients with Mitochondrial Encephalomyopathies

(2014) Daria Diodato et al.   HUMAN MUTATION

Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl–Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations

(2014) Hugh J. McMillan et al.   JOURNAL OF CHILD NEUROLOGY

Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities

(2014) Ramona Salvarinova et al.   NEUROGENETICS

Deciphering key features in protein structures with the new ENDscript server

(2014) Xavier Robert et al.   NUCLEIC ACIDS RESEARCH

tRNA synthetase: tRNA aminoacylation and beyond

(2014) Yan Ling Joy Pang et al.   Wiley Interdisciplinary Reviews-RNA

Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity

(2013) Ryan J. Taft et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rare variants inmethionyl- andtyrosyl-tRNA synthetasegenes in late-onset autosomal dominant Charcot-Marie-Tooth neuropathy

(2013) Y.S. Hyun et al.   CLINICAL GENETICS

Efficient CRISPR/Cas9 genome editing with low off-target effects in zebrafish

(2013) A. Hruscha et al.   DEVELOPMENT

Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2

(2013) Michael Gonzalez et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Efficient genome editing in zebrafish using a CRISPR-Cas system

(2013) Woong Y Hwang et al.   NATURE BIOTECHNOLOGY

Essential nontranslational functions of tRNA synthetases

(2013) Min Guo et al.   Nature Chemical Biology

A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo

(2012) Aimée Vester et al.   HUMAN MUTATION

Chemical modulation of memory formation in larval zebrafish

(2011) M. A. Wolman et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Major Determinant for Binding and Aminoacylation of tRNAAla in Cytoplasmic Alanyl-tRNA Synthetase Is Mutated in Dominant Axonal Charcot-Marie-Tooth Disease

(2010) Philippe Latour et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy

(2010) Heather M. McLaughlin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Aminoacyl-tRNA Synthesis and Translational Quality Control

(2009) Jiqiang Ling et al.   Annual Review of Microbiology

Definition of drug resistant epilepsy: Consensus proposal by the ad hoc Task Force of the ILAE Commission on Therapeutic Strategies

(2009) Patrick Kwan et al.   EPILEPSIA

Biogenesis of glutaminyl-mt tRNAGln in human mitochondria

(2009) A. Nagao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Role of Aminoacyl-tRNA Synthetases in Genetic Diseases

(2008) Anthony Antonellis et al.   Annual Review of Genomics and Human Genetics