Publications

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Filters: Keyword is Nervous System Malformations and Author is Efthymiou, Stephanie  [Clear All Filters]
2023
Saffari A, Lau T, Tajsharghi H, Karimiani EGhayoor, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MBeiraghi, Sedighzadeh S, Siu VMok, Ortigoza-Escobar JDarío, AlShamsi AM, Ibrahim S, Al-Sannaa NAbbas, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore D-L, Martínez-González MJesús, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJuliet, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HSadat, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PNajarzadeh, Abedini S, Salpietro V, Gulec EYilmaz, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel A-L, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MHasan, Alvi JRaza, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew EH, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HSalimi, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Suri M, Ebrahimi-Fakhari D, Houlden H, Maroofian R. The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain. 2023 ;146(8):3273-3288.
2021
Meng L, Isohanni P, Shao Y, Graham BH, Hickey SE, Brooks S, Suomalainen A, Joset P, Steindl K, Rauch A, Hackenberg A, High FA, Armstrong-Javors A, Mencacci NE, Gonzàlez-Latapi P, Kamel WA, Al-Hashel JY, Bustos BI, Hernandez AV, Krainc D, Lubbe SJ, Van Esch H, De Luca C, Ballon K, Ravelli C, Burglen L, Qebibo L, Calame DG, Mitani T, Marafi D, Pehlivan D, Saadi NW, Sahin Y, Maroofian R, Efthymiou S, Houlden H, Maqbool S, Rahman F, Gu S, Posey JE, Lupski JR, Hunter JV, Wangler MF, Carroll CJ, Yang Y. MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Ann Neurol. 2021 ;89(4):828-833.