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Page 1
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.
Anderson EN, Drukewitz S, Kour S, Chimata AV, Rajan DS, Schönnagel S, Stals KL, Donnelly D, O'Sullivan S, Mantovani JF, Tan TY, Stark Z, Zacher P, Chatron N, Monin P, Drunat S, Vial Y, Latypova X, Levy J, Verloes A, Carter JN, Bonner DE, Shankar SP, Bernstein JA, Cohen JS, Comi A, Carere DA, Dyer LM, Mullegama SV, Sanchez-Lara PA, Grand K, Kim HG, Ben-Mahmoud A, Gospe SM Jr, Belles RS, Bellus G, Lichtenbelt KD, Oegema R, Rauch A, Ivanovski I, Mau-Them FT, Garde A, Rabin R, Pappas J, Bley AE, Bredow J, Wagner T, Decker E, Bergmann C, Domenach L, Margot H; Undiagnosed Diseases Network; Lemke JR, Jamra RA, Hentschel J, Mefford H, Singh A, Pandey UB, Platzer K. Anderson EN, et al. Among authors: ivanovski i. medRxiv [Preprint]. 2025 Apr 1:2025.03.31.25324695. doi: 10.1101/2025.03.31.25324695. medRxiv. 2025. PMID: 40236430 Free PMC article. Preprint.
Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.
Erdogan EN, Cheng CV, Caraffi SG, Ivanovski I, Piatelli G, Errichiello E, Papavasiliou AS, Vasileiou G, Reis A, Prince B, Hickey SE, Koboldt DC, Schneider MC, Porrmann J, Di Donato N, Leis T, Perry MS, Humberson J, Rotenberg J, Bakhtiari S, Magee H, Kheradmand S, Kruer MC, Swale A, Weber A, Landes C, Zuffardi O, Garavelli L, van Haeringen A, Ruivenkamp CAL, Pauly M, Au PYB, Dobyns WB, Aldinger KA. Erdogan EN, et al. Among authors: ivanovski i. Am J Med Genet A. 2025 May 3:e64093. doi: 10.1002/ajmg.a.64093. Online ahead of print. Am J Med Genet A. 2025. PMID: 40317680
Axonal motor polyneuropathy in a 13 years old Girl with a de Novo variant in ADNP.
Scaccini S, Cesaroni CA, Caraffi SG, Rizzi S, Rosato S, Peluso F, Spagnoli C, Cavalli A, Brugnoli C, Scandolo G, Pantani A, Ivanovski I, Garavelli L, Frattini D, Fusco C. Scaccini S, et al. Among authors: ivanovski i. Neurogenetics. 2025 Feb 24;26(1):32. doi: 10.1007/s10048-025-00815-w. Neurogenetics. 2025. PMID: 39992398
DPF2-related Coffin-Siris syndrome type 7 in two generations.
Kolokotronis K, Suter AA, Ivanovski I, Frey T, Bahr A, Rauch A, Steindl K. Kolokotronis K, et al. Among authors: ivanovski i. Eur J Med Genet. 2024 Jun;69:104945. doi: 10.1016/j.ejmg.2024.104945. Epub 2024 Apr 30. Eur J Med Genet. 2024. PMID: 38697389 Free article.
80 results