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Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
Hengel H, Bosso-Lefèvre C, Grady G, Szenker-Ravi E, Li H, Pierce S, Lebigot É, Tan TT, Eio MY, Narayanan G, Utami KH, Yau M, Handal N, Deigendesch W, Keimer R, Marzouqa HM, Gunay-Aygun M, Muriello MJ, Verhelst H, Weckhuysen S, Mahida S, Naidu S, Thomas TG, Lim JY, Tan ES, Haye D, Willemsen MAAP, Oegema R, Mitchell WG, Pierson TM, Andrews MV, Willing MC, Rodan LH, Barakat TS, van Slegtenhorst M, Gavrilova RH, Martinelli D, Gilboa T, Tamim AM, Hashem MO, AlSayed MD, Abdulrahim MM, Al-Owain M, Awaji A, Mahmoud AAH, Faqeih EA, Asmari AA, Algain SM, Jad LA, Aldhalaan HM, Helbig I, Koolen DA, Riess A, Kraegeloh-Mann I, Bauer P, Gulsuner S, Stamberger H, Ng AYJ, Tang S, Tohari S, Keren B, Schultz-Rogers LE, Klee EW, Barresi S, Tartaglia M, Mor-Shaked H, Maddirevula S, Begtrup A, Telegrafi A, Pfundt R, Schüle R, Ciruna B, Bonnard C, Pouladi MA, Stewart JC, Claridge-Chang A, Lefeber DJ, Alkuraya FS, Mathuru AS, Venkatesh B, Barycki JJ, Simpson MA, Jamuar SS, Schöls L, Reversade B. Hengel H, et al. Among authors: abdulrahim mm. Nat Commun. 2020 Jan 30;11(1):595. doi: 10.1038/s41467-020-14360-7. Nat Commun. 2020. PMID: 32001716 Free PMC article.
Post-acute COVID-19 condition in Saudi Arabia: A national representative study.
AlRadini FA, Alamri F, Aljahany MS, Almuzaini Y, Alsofayan Y, Khan A, Albogami N, Abdulrahim M, Almogbil A, Alahmari A. AlRadini FA, et al. J Infect Public Health. 2022 May;15(5):526-532. doi: 10.1016/j.jiph.2022.03.013. Epub 2022 Mar 25. J Infect Public Health. 2022. PMID: 35429791 Free PMC article.
Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies.
Suleiman J, Riedhammer KM, Jicinsky T, Mundt M, Werner L, Gusic M, Burgemeister AL, Alsaif HS, Abdulrahim M, Moghrabi NN, Nicolas-Jilwan M, AlSayed M, Bi W, Sampath S, Alkuraya FS, El-Hattab AW. Suleiman J, et al. Hum Mutat. 2019 Nov;40(11):1985-1992. doi: 10.1002/humu.23844. Epub 2019 Jul 22. Hum Mutat. 2019. PMID: 31209944
SLC25A42-associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion.
Aldosary M, Baselm S, Abdulrahim M, Almass R, Alsagob M, AlMasseri Z, Huma R, AlQuait L, Al-Shidi T, Al-Obeid E, AlBakheet A, Alahideb B, Alahaidib L, Qari A, Taylor RW, Colak D, AlSayed MD, Kaya N. Aldosary M, et al. JIMD Rep. 2021 May 4;60(1):75-87. doi: 10.1002/jmd2.12218. eCollection 2021 Jul. JIMD Rep. 2021. PMID: 34258143 Free PMC article.
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. 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.
Breast Chondroma.
AbdullGaffar B, Abdulrahim MM. AbdullGaffar B, et al. Among authors: abdulrahim mm. Breast J. 2017 Mar;23(2):234-236. doi: 10.1111/tbj.12714. Epub 2016 Oct 31. Breast J. 2017. PMID: 27797122 No abstract available.