Associated Papers
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.
Faridi R et al.
Human Genetics, 2022
Expanding the Clinical and Molecular Spectrum of HARS2-Perrault Syndrome: Identification of a Novel Homozygous Missense Variant in the HARS2 gene.
Souissi A et al.
Genetic Testing and Molecular Biomarkers, 2021
Two novel likely pathogenic variants of HARS2 identified in a Chinese family with sensorineural hearing loss.
Yu J et al.
Hereditas, 2020
A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families.
Demain LAM et al.
Journal of Human Genetics, 2020
Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders.
Domínguez-Ruiz M et al.
Journal of Translational Medicine, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.
Oprescu SN et al.
Methods (san Diego, Calif.), 2017
An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.
Lerat J et al.
Human Mutation, 2016
Genetics of premature ovarian failure.
Bilgin EM et al.
Current Opinion in Obstetrics & Gynecology, 2015
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.
Simon M et al.
Plos Genetics, 2015
Evolutionary and structural annotation of disease-associated mutations in human aminoacyl-tRNA synthetases.
Datt M et al.
Bmc Genomics, 2014
Pathogenic implications of human mitochondrial aminoacyl-tRNA synthetases.
Schwenzer H et al.
Topics in Current Chemistry, 2014
The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.
Diodato D et al.
International Journal of Cell Biology, 2014
Perrault syndrome: further evidence for genetic heterogeneity.
Jenkinson EM et al.
Journal of Neurology, 2012
Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome.
Pierce SB et al.
Proceedings of the National Academy of Sciences of the United States of America, 2011