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Page 1
Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.
Alabdulrazzaq F, Alanzi T, Al-Balool HH, Gardham A, Wakeling E, Leitch HG, AlSayed M, Abdulrahim M, Aladwani A, Romito A, Kampe K, Ferdinandusse S, Aboelanine AH, Abdullah A, Alwadani A, Bastaki L, Vaz FM, Bertoli-Avella AM, Marafi D. Alabdulrazzaq F, et al. Among authors: marafi d. Mol Genet Genomic Med. 2023 Dec;11(12):e2256. doi: 10.1002/mgg3.2256. Epub 2023 Aug 18. Mol Genet Genomic Med. 2023. PMID: 37592902 Free PMC article.
Picking up the pace.
Marafi D, Fussner S, Chen YY, Yoshor D, Van Ness P, Maheshwari A. Marafi D, et al. Clin Neurophysiol. 2019 Sep;130(9):1528-1530. doi: 10.1016/j.clinph.2019.06.003. Epub 2019 Jun 25. Clin Neurophysiol. 2019. PMID: 31295722 Free PMC article. No abstract available.
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.
Saida K, Maroofian R, Sengoku T, Mitani T, Pagnamenta AT, Marafi D, Zaki MS, O'Brien TJ, Karimiani EG, Kaiyrzhanov R, Takizawa M, Ohori S, Leong HY, Akay G, Galehdari H, Zamani M, Romy R, Carroll CJ, Toosi MB, Ashrafzadeh F, Imannezhad S, Malek H, Ahangari N, Tomoum H, Gowda VK, Srinivasan VM, Murphy D, Dominik N, Elbendary HM, Rafat K, Yilmaz S, Kanmaz S, Serin M, Krishnakumar D, Gardham A, Maw A, Rao TS, Alsubhi S, Srour M, Buhas D, Jewett T, Goldberg RE, Shamseldin H, Frengen E, Misceo D, Strømme P, Magliocco Ceroni JR, Kim CA, Yesil G, Sengenc E, Guler S, Hull M, Parnes M, Aktas D, Anlar B, Bayram Y, Pehlivan D, Posey JE, Alavi S, Madani Manshadi SA, Alzaidan H, Al-Owain M, Alabdi L, Abdulwahab F, Sekiguchi F, Hamanaka K, Fujita A, Uchiyama Y, Mizuguchi T, Miyatake S, Miyake N, Elshafie RM, Salayev K, Guliyeva U, Alkuraya FS, Gleeson JG, Monaghan KG, Langley KG, Yang H, Motavaf M, Safari S, Alipour M, Ogata K, Brown AEX, Lupski JR, Houlden H, Matsumoto N. Saida K, et al. Among authors: marafi d. Genet Med. 2023 Jan;25(1):90-102. doi: 10.1016/j.gim.2022.09.010. Epub 2022 Oct 31. Genet Med. 2023. PMID: 36318270 Free article.
SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes.
Smits DJ, Schot R, Krusy N, Wiegmann K, Utermöhlen O, Mulder MT, den Hoedt S, Yoon G, Deshwar AR, Kresge C, Pletcher B, van Mook M, Ferreira MS, Poot RA, Slotman JA, Kremers GJ, Ahmad A, Albash B, Bastaki L, Marafi D, Dekker J, van Ham TJ, Nguyen L, Mancini GMS. Smits DJ, et al. Among authors: marafi d. Brain. 2023 Aug 1;146(8):3528-3541. doi: 10.1093/brain/awad033. Brain. 2023. PMID: 36732302 Free PMC article.
Human 'knockouts' of CSF3 display severe congenital neutropenia.
Khouj E, Marafi D, Aljamal B, Hajiya A, Elshafie RM, Hashem MO, Abdulwahab F, Jaafar A, Alshidi T, Aboelanine AH, Awaji A, Alkuraya FS. Khouj E, et al. Among authors: marafi d. Br J Haematol. 2023 Nov;203(3):477-480. doi: 10.1111/bjh.19054. Epub 2023 Aug 23. Br J Haematol. 2023. PMID: 37612131
Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants.
Aburezq M, Alahmad A, Alsafi R, Al-Tawari A, Ramadan D, Shafik M, Abdelaty O, Makhseed N, Elshafie R, Ayed M, Hayat A, Dashti F, Marafi D, Albash B, Bastaki L, Alsharhan H. Aburezq M, et al. Among authors: marafi d. Orphanet J Rare Dis. 2023 Sep 5;18(1):271. doi: 10.1186/s13023-023-02888-y. Orphanet J Rare Dis. 2023. PMID: 37670342 Free PMC article.
El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.
Almannai M, Marafi D, Abdel-Salam GMH, Zaki MS, Duan R, Calame D, Herman I, Levesque F, Elbendary HM, Hegazy I, Chung WK, Kavus H, Saeidi K, Maroofian R, AlHashim A, Al-Otaibi A, Al Madhi A, Abou Al-Seood HM, Alasmari A, Houlden H, Gleeson JG, Hunter JV, Posey JE, Lupski JR, El-Hattab AW. Almannai M, et al. Among authors: marafi d. Clin Genet. 2022 May;101(5-6):530-540. doi: 10.1111/cge.14132. Epub 2022 Apr 12. Clin Genet. 2022. PMID: 35322404 Free PMC article.
Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits.
Elbendary HM, Marafi D, Saad AK, Elhossini R, Duan R, Rafat K, Jhangiani SN, Gibbs RA, Pehlivan D, Calame DG, Posey JE, Lupski JR, Zaki MS. Elbendary HM, et al. Among authors: marafi d. Clin Genet. 2023 Sep;104(3):344-349. doi: 10.1111/cge.14348. Epub 2023 May 9. Clin Genet. 2023. PMID: 37157980 Free PMC article. Review.
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. Brain. 2022 Apr 29;145(3):909-924. doi: 10.1093/brain/awab369. Brain. 2022. PMID: 34605855 Free PMC article.
59 results