Associated Papers
A Tiered Approach to Exome Sequencing Analysis in Early-Onset Primary Ovarian Insufficiency.
McGlacken-Byrne SM et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
LARS2-Related Perrault Syndrome in Siblings With 46,XY Differences of Sex Development.
Adam AP et al.
American Journal of Medical Genetics. Part A, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Novel compound heterozygous mutations in the LARS2 gene in a Chinese family with hearing loss.
Lu M et al.
Neurogenetics, 2025
Genetic landscape of hearing loss in prelingual deaf patients of eastern Iran: Insights from exome sequencing analysis.
Alerasool M et al.
Clinical Genetics, 2024
Genetic insights into the complexity of premature ovarian insufficiency.
Nie L et al.
Reproductive Biology and Endocrinology : Rb&e, 2024
Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families.
Idyahia A et al.
Molecular Biology Reports, 2024
Genomics of iron refractory iron deficiency anemia phenotype reveals a spectrum of novel pathogenic biallelic and monoallelic TMPRSS6 variants and rare overlapping disorders.
Sharma P et al.
Gene, 2024
[Analysis of perrault syndrome caused by pathogenic variants in LARS2 and HARS2 genes].
Lei YB et al.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2023
Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice.
Ballesta-Martínez MJ et al.
Orphanet Journal of Rare Diseases, 2023
LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss.
Neyroud AS et al.
European Journal of Human Genetics : Ejhg, 2023
Neonatal lactic acidosis explained by LARS2 defect.
De Paepe B et al.
Pediatric Research, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
The landscape of genetic variations in non-syndromic primary ovarian insufficiency in the MENA region: a systematic review.
Allouch A et al.
Frontiers in Endocrinology, 2023
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.
Faridi R et al.
Human Genetics, 2022
Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approaches.
Buonfiglio PI et al.
Scientific Reports, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.
Van Heurck R et al.
Genes, 2021
Mitochondrial Aminoacyl-tRNA Synthetase and Disease: The Yeast Contribution for Functional Analysis of Novel Variants.
Figuccia S et al.
International Journal of Molecular Sciences, 2021
Perrault syndrome: Clinical report and retrospective analysis.
Pan Z et al.
Molecular Genetics & Genomic Medicine, 2020
LARS2-Perrault syndrome: a new case report and literature review.
Carminho-Rodrigues MT et al.
Bmc Medical Genetics, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
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
When a common biological role does not imply common disease outcomes: Disparate pathology linked to human mitochondrial aminoacyl-tRNA synthetases.
González-Serrano LE et al.
The Journal of Biological Chemistry, 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
Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms.
Kosaki R et al.
American Journal of Medical Genetics. Part A, 2018
Marfanoid habitus is a nonspecific feature of Perrault syndrome.
Zerkaoui M et al.
Clinical Dysmorphology, 2017
Premature Ovarian Failure in French Canadian Leigh Syndrome.
Ghaddhab C et al.
The Journal of Pediatrics, 2017
Expanding the genotypic spectrum of Perrault syndrome.
Demain LA et al.
Clinical Genetics, 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
Premature Ovarian Insufficiency: New Perspectives on Genetic Cause and Phenotypic Spectrum.
Tucker EJ et al.
Endocrine Reviews, 2016
First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family.
Soldà G et al.
Journal of Human Genetics, 2016
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.
Riley LG et al.
Jimd Reports, 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
The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.
Diodato D et al.
International Journal of Cell Biology, 2014
Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome.
Pierce SB et al.
American Journal of Human Genetics, 2013
Genetics of primary ovarian insufficiency: new developments and opportunities.
Qin Y et al.
Human Reproduction Update, 0