1. França, Monica Malheiros, Mendonca, Berenice Bilharinho. 2021. Genetics of ovarian insufficiency and defects of folliculogenesis. In Best practice & research. Clinical endocrinology & metabolism, 36, 101594. doi:10.1016/j.beem.2021.101594. https://pubmed.ncbi.nlm.nih.gov/34794894/
2. Souissi, Amal, Ben Said, Mariem, Frikha, Fakher, Masmoudi, Saber, Megarbane, Andre. . Expanding the Clinical and Molecular Spectrum of HARS2-Perrault Syndrome: Identification of a Novel Homozygous Missense Variant in the HARS2 gene. In Genetic testing and molecular biomarkers, 25, 528-539. doi:10.1089/gtmb.2021.0092. https://pubmed.ncbi.nlm.nih.gov/34406847/
3. Tiosano, Dov, Mears, Jason A, Buchner, David A. . Mitochondrial Dysfunction in Primary Ovarian Insufficiency. In Endocrinology, 160, 2353-2366. doi:10.1210/en.2019-00441. https://pubmed.ncbi.nlm.nih.gov/31393557/
4. Demain, Leigh A M, Gerkes, Erica H, Smith, Richard J H, O'Keefe, Raymond T, Newman, William G. 2019. A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families. In Journal of human genetics, 65, 305-311. doi:10.1038/s10038-019-0706-1. https://pubmed.ncbi.nlm.nih.gov/31827252/
5. Yu, Jing, Jiang, Wei, Cao, Li, Na, Xiaoxue, Yang, Jiyun. 2020. Two novel likely pathogenic variants of HARS2 identified in a Chinese family with sensorineural hearing loss. In Hereditas, 157, 47. doi:10.1186/s41065-020-00157-7. https://pubmed.ncbi.nlm.nih.gov/33228777/
6. Munson, Hannah E, De Simone, Lenika, Schwaede, Abigail, Kuntz, Nancy, Rao, Vamshi K. 2023. Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report. In BMC medical genomics, 16, 278. doi:10.1186/s12920-023-01599-4. https://pubmed.ncbi.nlm.nih.gov/37932750/