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

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

Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island

(2015) Alice Hadchouel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Dominant, toxic gain-of-function mutations ingarslead to non-cell autonomous neuropathology

(2015) Stuart J. Grice et al.   HUMAN MOLECULAR GENETICS

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

FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project

(2014) Chandree L. Beaulieu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations inRARScause hypomyelination

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

Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease

(2014) Hugh J McMillan et al.   BMC Medical Genetics

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

Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges

(2014) Maria Schabhüttl et al.   JOURNAL OF NEUROLOGY

Potentially functional polymorphisms in aminoacyl-tRNA synthetases genes are associated with breast cancer risk in a Chinese population

(2014) Yisha He et al.   MOLECULAR CARCINOGENESIS

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

Mutations in KARS, Encoding Lysyl-tRNA Synthetase, Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB89

(2013) Regie Lyn P. Santos-Cortez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype

(2013) Eline van Meel et al.   BMC Medical Genetics

Aminoacyl-tRNA synthetases in medicine and disease

(2013) Peng Yao et al.   EMBO Molecular Medicine

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

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

(2012) Aimée Vester et al.   HUMAN MUTATION

Identification of a mutation in LARS as a novel cause of infantile hepatopathy

(2012) Jillian P. Casey et al.   MOLECULAR GENETICS AND METABOLISM

Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases

(2012) Erik G. Puffenberger et al.   PLoS One

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

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

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 Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

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