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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|April 30, 2022
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndromeGerarda Cappuccio, Simona Brillante, Roberta Tammaro, et al.EMBO Molecular Medicine|November 20, 2024
Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial diseaseLindsey Van Haute, Petra Páleníková, Jia Xin Tang, et al.BMJ (Clinical Research Ed.)|November 4, 2021
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort studyKatherine R Schon, Rita Horvath, Wei Wei, et al.American Journal of Human Genetics|February 24, 2022
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndromeFederico Tessadori, Karen Duran, Karen Knapp, et al.Pageof 2