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Nature Communications|February 17, 2025
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSSAvinash V Dharmadhikari, Maria Alba Abad, Sheraz Khan, et al.Brain : a Journal of Neurology|July 30, 2023
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disordersReza Maroofian, Rauan Kaiyrzhanov, Elisa Cali, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 11, 2026
High Throughput Evidence Generation to Support Tentative Gene Disease Relationship from A Cohort Enriched for Autozygosity and Founder EffectKhadijah Bakur, Bader Alhaddad, Ali Balubaid, et al.Brain : a Journal of Neurology|November 15, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiencyKajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, et al.Pageof 6