Biblio

Author Title Type [ Year(Asc)]
Filters: Author is Maroofian, Reza  [Clear All Filters]
2024
Banks E, Francis V, Lin S-J, Kharfallah F, Fonov V, Levesque M, Han C, Kulasekaran G, Tuznik M, Bayati A, et al. Loss of symmetric cell division of apical neural progenitors drives -related developmental and epileptic encephalopathy. medRxiv. 2024.
Koparir A, Lekszas C, Keseroglu K, Rose T, Rappl L, Rad A, Maroofian R, Narendran N, Hasanzadeh A, Karimiani EGhayoor, et al. Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome. Hum Genomics. 2024;18(1):23.
Laugwitz L, Cheng F, Collins SC, Hustinx A, Navarro N, Welsch S, Cox H, Hsieh T-C, Vijayananth A, Buchert R, et al. ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations. Brain. 2024.
2023
Deng R, Medico-Salsench E, Nikoncuk A, Ramakrishnan R, Lanko K, Kühn NA, van der Linde HC, Lor-Zade S, Albuainain F, Shi Y, et al. AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model. Acta Neuropathol. 2023.
Maroofian R, Kaiyrzhanov R, Cali E, Zamani M, Zaki MS, Ferla M, Tortora D, Sadeghian S, Saadi SMaryam, Abdullah U, et al. Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. Brain. 2023.
Gracia-Diaz C, Zhou Y, Yang Q, Maroofian R, Espana-Bonilla P, Lee C-H, Zhang S, Padilla N, Fueyo R, Waxman EA, et al. Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders. Nat Commun. 2023;14(1):4109.