YARS2 Missense Variant in Belgian Shepherd Dogs with Cardiomyopathy and Juvenile Mortality

Incidence of congenital malformations and impact on the mortality of neonatal canines

(2019) Keylla Helena Nobre Pacifico Pereira et al.   THERIOGENOLOGY

Whole genome sequencing of canids reveals genomic regions under selection and variants influencing morphology

(2019) Jocelyn Plassais et al.   Nature Communications

A comprehensive biomedical variant catalogue based on whole genome sequences of 582 dogs and eight wolves

(2019) V. Jagannathan et al.   ANIMAL GENETICS

A RAPGEF6 variant constitutes a major risk factor for laryngeal paralysis in dogs

(2019) Sheida Hadji Rasouliha et al.   PLoS Genetics

The role of tRNA synthetases in neurological and neuromuscular disorders

(2018) Veronika Boczonadi et al.   FEBS LETTERS

The phenotypic spectrum of germlineYARS2variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2

(2018) Lisa G Riley et al.   HAEMATOLOGICA

The phenotypic spectrum of germlineYARS2variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2

(2018) Lisa G Riley et al.   HAEMATOLOGICA

PMut: a web-based tool for the annotation of pathological variants on proteins, 2017 update

(2017) Víctor López-Ferrando et al.   NUCLEIC ACIDS RESEARCH

Reproductive performance and pre-weaning mortality: Preliminary analysis of 27,221 purebred female dogs and 204,537 puppies in France

(2016) S Chastant-Maillard et al.   REPRODUCTION IN DOMESTIC ANIMALS

A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis and sideroblastic anemia 2

(2014) Junya Nakajima et al.   JOURNAL OF HUMAN GENETICS

DoGSD: the dog and wolf genome SNP database

(2014) Bing Bai et al.   NUCLEIC ACIDS RESEARCH

Causes, Diagnosis and Therapy of Common Diseases in Neonatal Puppies in the First Days of Life: Cornerstones of Practical Approach

(2014) A Münnich et al.   REPRODUCTION IN DOMESTIC ANIMALS

A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations

(2013) Rojeen Shahni et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia

(2013) Lisa G Riley et al.   Orphanet Journal of Rare Diseases

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia

(2012) Florin Sasarman et al.   HUMAN MUTATION

SIFT web server: predicting effects of amino acid substitutions on proteins

(2012) Ngak-Leng Sim et al.   NUCLEIC ACIDS RESEARCH

Canine parvovirus—A review of epidemiological and diagnostic aspects, with emphasis on type 2c

(2011) Nicola Decaro et al.   VETERINARY MICROBIOLOGY

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