Misceo D, Senaratne LDS, Mero IL, Sundaram AYM, Bjørnstad PM, Szczałuba K, Gasperowicz P, Kamien B, Nedregaard B, Holmgren A, Strømme P, Frengen E. Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome. Genes (Basel). 2023 Oct 24;14(11):1985. DOI: 10.3390/genes14111985, PubMed: 38002928
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 EE et 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
Canavati C, Oppebøen M, Verma R, Misceo D, Frengen E, Salvador CL, Martínez-Gil N, Cueto-González AM, Strømme P, Marthinsen PB, Costa-Roger M, Gómez-Andrés D, Vázquez E, Kulseth MA, Strand ME, Bjørnstad PM, Sundaram AYM, Nyman TA, Server A, Backe PH, Rofe DS, Mellul A, Zahdeh F, Renbaum P, Tizzano EFet al.(2026) Biallelic SUPT4H1 variants cause a multisystem neurodevelopmental disorder associated with disrupted transcription Genet Med, 28(5), 102553(in press) DOI 10.1016/j.gim.2026.102553, PubMed 41842694
Lambton J, Asano S, Huang Y, Suomi F, Eguchi T, Petree C, Huang K, Prigent M, Imam A, McCorvie TJ, Warren D, Hobson E, McCullagh H, Misceo D, Bjerre A, Smeland MF, Klingenberg C, Frengen E, Naik S, Ryan G, Sudarsanam A, Foster K, Vasudevan P, Samanta R, Rahman Fet al.(2026) Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder Am J Hum Genet(in press) DOI 10.1016/j.ajhg.2026.03.002, PubMed 41895291
Hynes C, Williams E, Misceo D, Strømme P, Frengen E, Kakumani PK(2025) De novo CSDE1 missense variant T595N regulates miRNA expression in a patient with a complex neurodevelopmental condition Biochim Biophys Acta Mol Basis Dis, 1872(3), 168104 DOI 10.1016/j.bbadis.2025.168104, PubMed 41207398
