Sumathipala D, Strømme P, Gilissen C, Einarsen IH, Bjørndalen HJ, Server A, Corominas J, Hassel B, Fannemel M, Misceo D, Frengen E(2020) Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report BMC Med Genet, 21(1), 96 DOI 10.1186/s12881-020-01024-y, PubMed 32381069
Epting D, Senaratne LDS, Ott E, Holmgren A, Sumathipala D, Larsen SM, Wallmeier J, Bracht D, Frikstad KM, Crowley S, Sikiric A, Barøy T, Käsmann-Kellner B, Decker E, Decker C, Bachmann N, Patzke S, Phelps IG, Katsanis N, Giles R, Schmidts M, Zucknick M, Lienkamp SS, Omran H, Davis EEet al.(2020) Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome Hum Mutat, 41(12), 2179-2194 DOI 10.1002/humu.24127, PubMed 33131181
Ghaffar A, Akhter T, Strømme P, Misceo D, Khan A, Frengen E, Umair M, Isidor B, Cogné B, Khan AA, Bruel AL, Sorlin A, Kuentz P, Chiaverini C, Innes AM, Zech M, Baláž M, Havrankova P, Jech R, Ahmed ZM, Riazuddin S, Riazuddin S(2024) Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly Commun Biol, 7(1), 831 DOI 10.1038/s42003-024-06466-1, PubMed 38977784
Misceo D, Strømme P, Bitarafan F, Chawla MS, Sheng Y, Bach de Courtade SM, Eide L, Frengen E(2024) Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome Genes (Basel), 15(4) DOI 10.3390/genes15040500, PubMed 38674434
Gamage TH, Grabmayr H, Horvath F, Fahrner M, Misceo D, Louch WE, Gunnes G, Pullisaar H, Reseland JE, Lyngstadaas SP, Holmgren A, Amundsen SS, Rathner P, Cerofolini L, Ravera E, Krobath H, Luchinat C, Renger T, Müller N, Romanin C, Frengen E(2023) A single amino acid deletion in the ER Ca2+ sensor STIM1 reverses the in vitro and in vivo effects of the Stormorken syndrome-causing R304W mutation Sci Signal, 16(771), eadd0509 DOI 10.1126/scisignal.add0509, PubMed 36749824