Publications

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2024
Kaiyrzhanov R, Rad A, Lin S-J, Bertoli-Avella A, Kallemeijn WW, Godwin A, Zaki MS, Huang K, Lau T, Petree C, Efthymiou S, Karimiani EGhayoor, Hempel M, Normand EA, Rudnik-Schöneborn S, Schatz UA, Baggelaar MP, Ilyas M, Sultan T, Alvi JRaza, Ganieva M, Fowler B, Aanicai R, Tayfun GAkay, Saman AAl, Alswaid A, Amiri N, Asilova N, Shotelersuk V, Yeetong P, Azam M, Babaei M, Monajemi GBahrami, Mohammadi P, Samie S, Banu SHusna, Basto JPinto, Kortüm F, Bauer M, Bauer P, Beetz C, Garshasbi M, Issa AHameed, Eyaid W, Ahmed H, Hashemi N, Hassanpour K, Herman I, Ibrohimov S, Abdul-Majeed BA, Imdad M, Isrofilov M, Kaiyal Q, Khan S, Kirmse B, Koster J, Lourenço CMarques, Mitani T, Moldovan O, Murphy D, Najafi M, Pehlivan D, Rocha MEugenia, Salpietro V, Schmidts M, Shalata A, Mahroum M, Talbeya JKassem, Taylor RW, Vazquez D, Vetro A, Waterham HR, Zaman M, Schrader TA, Chung WK, Guerrini R, Lupski JR, Gleeson J, Suri M, Jamshidi Y, Bhatia KP, Vona B, Schrader M, Severino M, Guille M, Tate EW, Varshney GK, Houlden H, Maroofian R. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain. 2024 ;147(4):1436-1456.
2023
Maroofian R, Kaiyrzhanov R, Cali E, Zamani M, Zaki MS, Ferla M, Tortora D, Sadeghian S, Saadi SMaryam, Abdullah U, Karimiani EGhayoor, Efthymiou S, Yesil G, Alavi S, Shamsi AMAl, Tajsharghi H, Abdel-Hamid MS, Saadi NWaill, Mutairi FAl, Alabdi L, Beetz C, Ali Z, Toosi MBeiraghi, Rudnik-Schöneborn S, Babaei M, Isohanni P, Muhammad J, Khan S, Shalan MAl, Hickey SE, Marom D, Elhanan E, Kurian MA, Marafi D, Saberi A, Hamid M, Spaull R, Meng L, Lalani S, Maqbool S, Rahman F, Seeger J, Palculict TBlake, Lau T, Murphy D, Mencacci NEmanuele, Steindl K, Begemann A, Rauch A, Akbas S, Aslanger ADilruba, Salpietro V, Yousaf H, Ben-Shachar S, Ejeskär K, Aqeel AIAl, High FA, Armstrong-Javors AE, Zahraei SMohammadsa, Seifi T, Zeighami J, Shariati G, Sedaghat A, Asl SNoroozi, Shahrooei M, Zifarelli G, Burglen L, Ravelli C, Zschocke J, Schatz UA, Ghavideldarestani M, Kamel WA, Van Esch H, Hackenberg A, Taylor JC, Al-Gazali L, Bauer P, Gleeson JJ, Alkuraya FSami, Lupski JR, Galehdari H, Azizimalamiri R, Chung WK, Baig SMahmood, Houlden H, Severino M. Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. Brain. 2023 ;146(12):5031-5043.
Liu Z, Xin B, Smith IN, Sency V, Szekely J, Alkelai A, Shuldiner A, Efthymiou S, Rajabi F, Coury S, Brownstein CA, Rudnik-Schöneborn S, Bruel A-L, Thevenon J, Zeidler S, Jayakar P, Schmidt A, Cremer K, Engels H, Peters SO, Zaki MS, Duan R, Zhu C, Xu Y, Gao C, Sepulveda-Morales T, Maroofian R, Alkhawaja IA, Khawaja M, Alhalasah H, Houlden H, Madden JA, Turchetti V, Marafi D, Agrawal PB, Schatz U, Rotenberg A, Rotenberg J, Mancini GMS, Bakhtiari S, Kruer M, Thiffault I, Hirsch S, Hempel M, Stühn LG, Haack TB, Posey JE, Lupski JR, Lee H, Sarn NB, Eng C, Gonzaga-Jauregui C, Zhang B, Wang H. Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features. Hum Mol Genet. 2023 ;32(20):2981-2995.