Related references
Note: Only part of the references are listed.Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations
Stephanie N. Oprescu et al.
METHODS (2017)
A WHEP Domain Regulates the Dynamic Structure and Activity of Caenorhabditis elegans Glycyl-tRNA Synthetase
Chih-Yao Chang et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2016)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase
Weiwei He et al.
NATURE (2015)
Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease
Hugh J. McMillan et al.
JOURNAL OF CHILD NEUROLOGY (2015)
Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease
Hugh J. McMillan et al.
BMC MEDICAL GENETICS (2014)
Functional Substitution of a Eukaryotic Glycyl-tRNA Synthetase with an Evolutionarily Unrelated Bacterial Cognate Enzyme
Chin-I Chien et al.
PLOS ONE (2014)
Mutations in KARS, Encoding Lysyl-tRNA Synthetase, Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB89
Regie Lyn P. Santos-Cortez et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
VarSifter: Visualizing and analyzing exome-scale sequence variation data on a desktop computer
Jamie K. Teer et al.
BIOINFORMATICS (2012)
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases
William A. Gahl et al.
GENETICS IN MEDICINE (2012)
Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering
Thomas C. Markello et al.
MOLECULAR GENETICS AND METABOLISM (2012)
The NIH Undiagnosed Diseases Program Lessons Learned
William A. Gahl et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2011)
Charcot-Marie-Tooth-Linked Mutant GARS Is Toxic to Peripheral Neurons Independent of Wild-Type GARS Levels
William W. Motley et al.
PLOS GENETICS (2011)
Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing
Jamie K. Teer et al.
GENOME RESEARCH (2010)
Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing
Andreas Gnirke et al.
NATURE BIOTECHNOLOGY (2009)
The Role of Aminoacyl-tRNA Synthetases in Genetic Diseases
Anthony Antonellis et al.
Annual Review of Genomics and Human Genetics (2008)
Accurate whole human genome sequencing using reversible terminator chemistry
David R. Bentley et al.
NATURE (2008)
Charcot-Marie-Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect
Leslie A. Nangle et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Cytoplasmic and mitochondrial protein translation in axonal and dendritic terminal arborization
Takahiro Chihara et al.
NATURE NEUROSCIENCE (2007)
Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons
Anthony Antonellis et al.
JOURNAL OF NEUROSCIENCE (2006)
An active dominant mutation of Glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model
Kevin L. Seburn et al.
NEURON (2006)
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations
K Sivakumar et al.
BRAIN (2005)
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V
A Antonellis et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)