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Page 1
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.
Dharmadhikari AV, Abad MA, Khan S, Maroofian R, Sands TT, Ullah F, Samejima I, Wear MA, Moore KE, Kondakova E, Mitina N, Schaub T, Lee GK, Umandap CH, Berger SM, Iglesias AD, Popp B, Jamra RA, Gabriel H, Rentas S, Rippert AL, Izumi K, Conlin LK, Koboldt DC, Mosher TM, Hickey SE, Albert DVF, Norwood H, Lewanda AF, Dai H, Liu P, Mitani T, Marafi D, Pehlivan D, Posey JE, Lippa N, Vena N, Heinzen EL, Goldstein DB, Mignot C, de Sainte Agathe JM, Al-Sannaa NA, Zamani M, Sadeghian S, Azizimalamiri R, Seifia T, Zaki MS, Abdel-Salam GMH, Abdel-Hamid M, Alabdi L, Alkuraya FS, Dawoud H, Lofty A, Bauer P, Zifarelli G, Afzal E, Zafar F, Efthymiou S, Gossett D, Towne MC, Yeneabat R, Wontakal SN, Aggarwal VS, Rosenfeld JA, Tarabykin V, Ohta S, Lupski JR, Houlden H, Earnshaw WC, Davis EE, Jeyaprakash AA, Liao J. Dharmadhikari AV, et al. Among authors: maroofian r. medRxiv [Preprint]. 2024 Jan 9:2024.01.09.23300329. doi: 10.1101/2024.01.09.23300329. medRxiv. 2024. PMID: 38260255 Free PMC article. Preprint.
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.
Dias CM, Punetha J, Zheng C, Mazaheri N, Rad A, Efthymiou S, Petersen A, Dehghani M, Pehlivan D, Partlow JN, Posey JE, Salpietro V, Gezdirici A, Malamiri RA, Al Menabawy NM, Selim LA, Vahidi Mehrjardi MY, Banu S, Polla DL, Yang E, Rezazadeh Varaghchi J, Mitani T, van Beusekom E, Najafi M, Sedaghat A, Keller-Ramey J, Durham L, Coban-Akdemir Z, Karaca E, Orlova V, Schaeken LLM, Sherafat A, Jhangiani SN, Stanley V, Shariati G, Galehdari H, Gleeson JG, Walsh CA, Lupski JR, Seiradake E, Houlden H, van Bokhoven H, Maroofian R. Dias CM, et al. Among authors: maroofian r. Am J Hum Genet. 2019 Nov 7;105(5):1048-1056. doi: 10.1016/j.ajhg.2019.09.025. Epub 2019 Oct 24. Am J Hum Genet. 2019. PMID: 31668703 Free PMC article.
Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy.
Maroofian R, Sedmík J, Mazaheri N, Scala M, Zaki MS, Keegan LP, Azizimalamiri R, Issa M, Shariati G, Sedaghat A, Beetz C, Bauer P, Galehdari H, O'Connell MA, Houlden H. Maroofian R, et al. J Med Genet. 2021 Jul;58(7):495-504. doi: 10.1136/jmedgenet-2020-107048. Epub 2020 Jul 27. J Med Genet. 2021. PMID: 32719099 Free PMC article.
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
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. Meng L, et al. Among authors: maroofian r. Ann Neurol. 2021 Apr;89(4):828-833. doi: 10.1002/ana.26019. Epub 2021 Feb 8. Ann Neurol. 2021. PMID: 33443317 Free article.
Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.
Efthymiou S, Herman I, Rahman F, Anwar N, Maroofian R, Yip J, Mitani T, Calame DG, Hunter JV, Sutton VR, Yilmaz Gulec E, Duan R, Fatih JM, Marafi D, Pehlivan D, Jhangiani SN, Gibbs RA, Posey JE; SYNAPS Study Group; Maqbool S, Lupski JR, Houlden H. Efthymiou S, et al. Among authors: maroofian r. Am J Med Genet A. 2021 Jul;185(7):2241-2249. doi: 10.1002/ajmg.a.62221. Epub 2021 May 8. Am J Med Genet A. 2021. PMID: 33964184 Free PMC article. No abstract available.
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.
Hengel H, Hannan SB, Dyack S, MacKay SB, Schatz U, Fleger M, Kurringer A, Balousha G, Ghanim Z, Alkuraya FS, Alzaidan H, Alsaif HS, Mitani T, Bozdogan S, Pehlivan D, Lupski JR, Gleeson JJ, Dehghani M, Mehrjardi MYV, Sherr EH, Parks KC, Argilli E, Begtrup A, Galehdari H, Balousha O, Shariati G, Mazaheri N, Malamiri RA, Pagnamenta AT, Kingston H, Banka S, Jackson A, Osmond M; Care4Rare Canada Consortium; Genomics England Research Consortium; Rieß A, Haack TB, Nägele T, Schuster S, Hauser S, Admard J, Casadei N, Velic A, Macek B, Ossowski S, Houlden H, Maroofian R, Schöls L. Hengel H, et al. Among authors: maroofian r. Am J Hum Genet. 2021 Jun 3;108(6):1069-1082. doi: 10.1016/j.ajhg.2021.04.024. Epub 2021 May 21. Am J Hum Genet. 2021. PMID: 34022130 Free PMC article.
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
Dworschak GC, Punetha J, Kalanithy JC, Mingardo E, Erdem HB, Akdemir ZC, Karaca E, Mitani T, Marafi D, Fatih JM, Jhangiani SN, Hunter JV, Dakal TC, Dhabhai B, Dabbagh O, Alsaif HS, Alkuraya FS, Maroofian R, Houlden H, Efthymiou S, Dominik N, Salpietro V, Sultan T, Haider S, Bibi F, Thiele H, Hoefele J, Riedhammer KM, Wagner M, Guella I, Demos M, Keren B, Buratti J, Charles P, Nava C, Héron D, Heide S, Valkanas E, Waddell LB, Jones KJ, Oates EC, Cooper ST, MacArthur D, Syrbe S, Ziegler A, Platzer K, Okur V, Chung WK, O'Shea SA, Alcalay R, Fahn S, Mark PR, Guerrini R, Vetro A, Hudson B, Schnur RE, Hoganson GE, Burton JE, McEntagart M, Lindenberg T, Yilmaz Ö, Odermatt B, Pehlivan D, Posey JE, Lupski JR, Reutter H. Dworschak GC, et al. Among authors: maroofian r. Genet Med. 2021 Sep;23(9):1715-1725. doi: 10.1038/s41436-021-01196-9. Epub 2021 May 30. Genet Med. 2021. PMID: 34054129 Free PMC article.
Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features.
Zaki MS, Accogli A, Mirzaa G, Rahman F, Mohammed H, Porras-Hurtado GL, Efthymiou S, Maqbool S, Shukla A, Vincent JB, Hussain A, Mir A, Beetz C, Leubauer A, Houlden H, Gleeson JG, Maroofian R. Zaki MS, et al. Among authors: maroofian r. Eur J Hum Genet. 2021 Aug;29(8):1226-1234. doi: 10.1038/s41431-021-00910-0. Epub 2021 Jun 24. Eur J Hum Genet. 2021. PMID: 34163010 Free PMC article.
Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course.
Maroofian R, Gubas A, Kaiyrzhanov R, Scala M, Hundallah K, Severino M, Abdel-Hamid MS, Rosenfeld JA, Ebrahimi-Fakhari D, Ali Z, Rahim F, Houlden H, Tooze SA, Alsaleh NS, Zaki MS. Maroofian R, et al. Brain Commun. 2021 Sep 3;3(3):fcab183. doi: 10.1093/braincomms/fcab183. eCollection 2021. Brain Commun. 2021. PMID: 34557665 Free PMC article.
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.
Marafi D, Fatih JM, Kaiyrzhanov R, Ferla MP, Gijavanekar C, Al-Maraghi A, Liu N, Sites E, Alsaif HS, Al-Owain M, Zakkariah M, El-Anany E, Guliyeva U, Guliyeva S, Gaba C, Haseeb A, Alhashem AM, Danish E, Karageorgou V, Beetz C, Subhi AA, Mullegama SV, Torti E, Sebastin M, Breilyn MS, Duberstein S, Abdel-Hamid MS, Mitani T, Du H, Rosenfeld JA, Jhangiani SN, Coban Akdemir Z, Gibbs RA, Taylor JC, Fakhro KA, Hunter JV, Pehlivan D, Zaki MS, Gleeson JG, Maroofian R, Houlden H, Posey JE, Sutton VR, Alkuraya FS, Elsea SH, Lupski JR. Marafi D, et al. Among authors: maroofian r. Brain. 2022 Apr 29;145(3):909-924. doi: 10.1093/brain/awab369. Brain. 2022. PMID: 34605855 Free PMC article.
213 results