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Risk of meningomyelocele mediated by the common 22q11.2 deletion.
Science. 2024 May 3;384(6695):584-590. doi: 10.1126/science.adl1624. Epub 2024 May 2.
Science. 2024.
PMID: 38696583
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.
Almannai M, Marafi D, Zaki MS, Maroofian R, Efthymiou S, Saadi NW, Filimban B, Dafsari HS, Rahman F, Maqbool S, Faqeih E, Al Mutairi F, Alsharhan H, Abdelaty O, Bin-Hasan S, Duan R, Noureldeen MM, Alqattan A, Houlden H, Hunter JV, Posey JE, Lupski JR, El-Hattab AW.
Almannai M, et al. Among authors: noureldeen mm.
Clin Genet. 2024 Jun;105(6):620-629. doi: 10.1111/cge.14492. Epub 2024 Feb 14.
Clin Genet. 2024.
PMID: 38356149
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Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.
Lin SJ, Vona B, Lau T, Huang K, Zaki MS, Aldeen HS, Karimiani EG, Rocca C, Noureldeen MM, Saad AK, Petree C, Bartolomaeus T, Abou Jamra R, Zifarelli G, Gotkhindikar A, Wentzensen IM, Liao M, Cork EE, Varshney P, Hashemi N, Mohammadi MH, Rad A, Neira J, Toosi MB, Knopp C, Kurth I, Challman TD, Smith R, Abdalla A, Haaf T, Suri M, Joshi M, Chung WK, Moreno-De-Luca A, Houlden H, Maroofian R, Varshney GK.
Lin SJ, et al. Among authors: noureldeen mm.
Genome Med. 2023 Nov 29;15(1):102. doi: 10.1186/s13073-023-01258-4.
Genome Med. 2023.
PMID: 38031187
Free PMC article.
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Clinical and molecular spectrum of a large Egyptian cohort with ALS2-related disorders of infantile-onset of clinical continuum IAHSP/JPLS.
Zaki MS, Sharaf-Eldin WE, Rafat K, Elbendary HM, Kamel M, Elkhateeb N, Noureldeen MM, Abdeltawab MA, Sadek AA, Essawi ML, Lau T, Murphy D, Abdel-Hamid MS, Holuden H, Issa MY, Gleeson JG.
Zaki MS, et al. Among authors: noureldeen mm.
Clin Genet. 2023 Aug;104(2):238-244. doi: 10.1111/cge.14338. Epub 2023 Apr 13.
Clin Genet. 2023.
PMID: 37055917
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Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.
Klöckner C, Fernández-Murray JP, Tavasoli M, Sticht H, Stoltenburg-Didinger G, Scholle LM, Bakhtiari S, Kruer MC, Darvish H, Firouzabadi SG, Pagnozzi A, Shukla A, Girisha KM, Narayanan DL, Kaur P, Maroofian R, Zaki MS, Noureldeen MM, Merkenschlager A, Gburek-Augustat J, Cali E, Banu S, Nahar K, Efthymiou S, Houlden H, Jamra RA, Williams J, McMaster CR, Platzer K.
Klöckner C, et al. Among authors: noureldeen mm.
Brain. 2022 Jun 30;145(6):1916-1923. doi: 10.1093/brain/awac074.
Brain. 2022.
PMID: 35202461
Free PMC article.
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Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy.
Calame DG, Bakhtiari S, Logan R, Coban-Akdemir Z, Du H, Mitani T, Fatih JM, Hunter JV, Herman I, Pehlivan D, Jhangiani SN, Person R, Schnur RE, Jin SC, Bilguvar K, Posey JE, Koh S, Firouzabadi SG, Alehabib E, Tafakhori A, Esmkhani S, Gibbs RA, Noureldeen MM, Zaki MS, Marafi D, Darvish H, Kruer MC, Lupski JR.
Calame DG, et al. Among authors: noureldeen mm.
Genet Med. 2021 Dec;23(12):2455-2460. doi: 10.1038/s41436-021-01291-x. Epub 2021 Aug 12.
Genet Med. 2021.
PMID: 34385670
Free PMC article.
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