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American Journal of Human Genetics|March 27, 2018
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex DeficienciesThatjana Gardeitchik, Miski Mohamed, Benedetta Ruzzenente, et al.Nature Communications|November 27, 2025
Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatmentFlorian Buerger, Daanya Salmanullah, Lorrin Liang, et al.American Journal of Human Genetics|May 21, 2026
Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assemblyRobin Wijngaard, Caspar I van der Made, Sema Kalkan Uçar, et al.American Journal of Human Genetics|January 10, 2017
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis LaxaTim Van Damme, Thatjana Gardeitchik, Miski Mohamed, et al.Pageof 5