1. Pagnamenta, Alistair T, Camps, Carme, Giacopuzzi, Edoardo, Popitsch, Niko, Taylor, Jenny C. 2023. Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases. In Genome medicine, 15, 94. doi:10.1186/s13073-023-01240-0. https://pubmed.ncbi.nlm.nih.gov/37946251/
2. Boros, E, Elilié Mawa Ongoth, F, Heinrichs, C, Ismaïli, K, Brachet, C. 2022. Primary ovarian insufficiency in RMND1 mitochondrial disease. In Mitochondrion, 66, 51-53. doi:10.1016/j.mito.2022.07.004. https://pubmed.ncbi.nlm.nih.gov/35901949/
3. Gupta, Asheeta, Colmenero, Isabel, Ragge, Nicola K, Vogt, Julie, Milford, David V. 2016. Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report. In BMC research notes, 9, 325. doi:10.1186/s13104-016-2131-2. https://pubmed.ncbi.nlm.nih.gov/27350610/
4. Kömhoff, Martin, Gracchi, Valentina, Dijkman, Henry, Beck, Bodo B, Monnens, Leo. 2023. Hyporeninemic hypoaldosteronism in RMND1-related mitochondrial disease. In Pediatric nephrology (Berlin, Germany), 39, 125-129. doi:10.1007/s00467-023-06079-6. https://pubmed.ncbi.nlm.nih.gov/37450011/
5. Rioux, Alexis V, Bergeron, Nicolas Ad, Riopel, Julie, Garneau, Alexandre P, Isenring, Paul. 2023. The ever wider clinical spectrum of RMND1-related disorders and limitedness of phenotype-based classifications. In Journal of molecular medicine (Berlin, Germany), 101, 1229-1236. doi:10.1007/s00109-023-02356-x. https://pubmed.ncbi.nlm.nih.gov/37584739/
智鼠故事 
