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

Leukoencephalopathy with thalamus and brainstem involvement and high lactate ‘LTBL’ caused by EARS2 mutations

(2012) Marjan E. Steenweg et al.   BRAIN

Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans

(2012) Vafa Bayat et al.   PLOS BIOLOGY

Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome

(2011) Ruth Belostotsky et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

(2011) Alexandra Götz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clan Genomics and the Complex Architecture of Human Disease

(2011) James R. Lupski et al.   CELL

A Recurrent loss-of-function alanyl-tRNA synthetase (AARS ) mutation in patients with charcot-marie-tooth disease type 2N (CMT2N)

(2011) Heather M. McLaughlin et al.   HUMAN MUTATION

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome

(2011) S. B. Pierce et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Dispersed disease-causing neomorphic mutations on a single protein promote the same localized conformational opening

(2011) W. He et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Charcot-Marie-Tooth–Linked Mutant GARS Is Toxic to Peripheral Neurons Independent of Wild-Type GARS Levels

(2011) William W. Motley et al.   PLoS Genetics

Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome

(2010) Lisa G. Riley et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

The ClinSeq Project: Piloting large-scale genome sequencing for research in genomic medicine

(2009) L. G. Biesecker et al.   GENOME RESEARCH

Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate inDrosophilafeatures of human Charcot–Marie–Tooth neuropathy

(2009) Erik Storkebaum 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