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PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.
Zollo M, Ahmed M, Ferrucci V, Salpietro V, Asadzadeh F, Carotenuto M, Maroofian R, Al-Amri A, Singh R, Scognamiglio I, Mojarrad M, Musella L, Duilio A, Di Somma A, Karaca E, Rajab A, Al-Khayat A, Mohan Mohapatra T, Eslahi A, Ashrafzadeh F, Rawlins LE, Prasad R, Gupta R, Kumari P, Srivastava M, Cozzolino F, Kumar Rai S, Monti M, Harlalka GV, Simpson MA, Rich P, Al-Salmi F, Patton MA, Chioza BA, Efthymiou S, Granata F, Di Rosa G, Wiethoff S, Borgione E, Scuderi C, Mankad K, Hanna MG, Pucci P, Houlden H, Lupski JR, Crosby AH, Baple EL. Zollo M, et al. Brain. 2017 Apr 1;140(4):940-952. doi: 10.1093/brain/awx014. Brain. 2017. PMID: 28334956 Free PMC article.
LHFPL5 mutation: A rare cause of non-syndromic autosomal recessive hearing loss.
Al-Amri AH, Al Saegh A, Al-Mamari W, El-Asrag ME, Al-Kindi MN, Al Khabouri M, Al Wardy N, Al Lamki K, Gabr A, Idris A, Inglehearn CF, Clapcote SJ, Ali M. Al-Amri AH, et al. Eur J Med Genet. 2019 Dec;62(12):103592. doi: 10.1016/j.ejmg.2018.11.026. Epub 2018 Nov 23. Eur J Med Genet. 2019. PMID: 30476627
A Recessively Inherited Risk Locus on Chromosome 13q22-31 Conferring Susceptibility to Schizophrenia.
Mahmood T, El-Asrag ME, Poulter JA, Cardno AG, Tomlinson A, Ahmed S, Al-Amri A, Nazari J, Neill J, Chamali RS, Kiwan N, Ghuloum S, Alhaj HA, Randerson Moor J, Khan S, Al-Amin H, Johnson CA, Woodruff P, Wilkinson ID, Ali M, Clapcote SJ, Inglehearn CF. Mahmood T, et al. Schizophr Bull. 2021 Apr 29;47(3):796-802. doi: 10.1093/schbul/sbaa161. Schizophr Bull. 2021. PMID: 33159203 Free PMC article.
PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit Flies.
Al-Amri AH, Armstrong P, Amici M, Ligneul C, Rouse J, El-Asrag ME, Pantiru A, Vancollie VE, Ng HWY, Ogbeta JA, Goodchild K, Ellegood J, Lelliott CJ, Mullins JGL, Bretman A, Al-Ali R, Beetz C, Al-Gazali L, Al Shamsi A, Lerch JP, Mellor JR, Al Sayegh A, Ali M, Inglehearn CF, Clapcote SJ. Al-Amri AH, et al. Biol Psychiatry. 2022 Aug 15;92(4):323-334. doi: 10.1016/j.biopsych.2021.12.017. Epub 2022 Jan 11. Biol Psychiatry. 2022. PMID: 35227461 Free PMC article.
Elective Cancer Surgery in COVID-19-Free Surgical Pathways During the SARS-CoV-2 Pandemic: An International, Multicenter, Comparative Cohort Study.
Glasbey JC, Nepogodiev D, Simoes JFF, Omar O, Li E, Venn ML, Pgdme, Abou Chaar MK, Capizzi V, Chaudhry D, Desai A, Edwards JG, Evans JP, Fiore M, Videria JF, Ford SJ, Ganly I, Griffiths EA, Gujjuri RR, Kolias AG, Kaafarani HMA, Minaya-Bravo A, McKay SC, Mohan HM, Roberts KJ, San Miguel-Méndez C, Pockney P, Shaw R, Smart NJ, Stewart GD, Sundar Mrcog S, Vidya R, Bhangu AA; COVIDSurg Collaborative. Glasbey JC, et al. J Clin Oncol. 2021 Jan 1;39(1):66-78. doi: 10.1200/JCO.20.01933. Epub 2020 Oct 6. J Clin Oncol. 2021. PMID: 33021869 Free PMC article.
213 results