Misceo D, Lirussi L, Antal EA, Sikiric A, Ørstavik K, Bjørnstad PM, Sundaram AYM, Elkamil AI, Esbensen QY, Bøker T, Brorson SH, Hoddevik EH, Nilsen HL, Frengen E, Strømme P (2026) Neurogenic muscular atrophy in NHP2-related dyskeratosis congenita in a family: pathological and molecular insights Acta Neuropathol, 152 (1) DOI 10.1007/s00401-026-03088-1, PubMed 42842021 Awamleh Z, Chen A, Choufani S, Rots D, Ko JM, Armour CM, Nowaczyk MJM, Hurst ACE, Gibson WT, Misceo D, Frengen E, Strømme P, Soliani L, McNiven V, Alkhunaizi E, Invernizzi F, Fernandes S, Sousa S, Amoros I, Scherer SW, Kwint M, Bienvenu T, Garavaglia BM, Ortigoza-Escobar JD, Weksberg R (2026) KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders Genet Med, 28 (10), 102636 (in press) DOI 10.1016/j.gim.2026.102636, PubMed 42318777 Misceo D, Strømme P, Sundaram AYM, Bjørnstad PM, Strand ME, Chawla MS, Frengen E (2026) A Homozygous Deep Intronic SNX14 Variant Activates Pseudo-Exon Inclusion in a Patient with SCAR20 Genes (Basel), 17 (4) DOI 10.3390/genes17040378, PubMed 42074495 More publications
Contact: Eirik FrengenDepartment of Medical GeneticsTel: 95882233E-mail: eirik.frengen@medisin.uio.no