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Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia.
Elsaid MF, Chalhoub N, Ben-Omran T, Kumar P, Kamel H, Ibrahim K, Mohamoud Y, Al-Dous E, Al-Azwani I, Malek JA, Suhre K, Ross ME, Aleem AA. Elsaid MF, et al. Among authors: chalhoub n. Ann Neurol. 2017 Jan;81(1):68-78. doi: 10.1002/ana.24826. Ann Neurol. 2017. PMID: 27863452
Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum.
Elsaid MF, Kamel H, Chalhoub N, Aziz NA, Ibrahim K, Ben-Omran T, George B, Al-Dous E, Mohamoud Y, Malek JA, Ross ME, Aleem AA. Elsaid MF, et al. Among authors: chalhoub n. Am J Med Genet A. 2014 Jun;164A(6):1614-7. doi: 10.1002/ajmg.a.36485. Epub 2014 Mar 25. Am J Med Genet A. 2014. PMID: 24668585 No abstract available.
Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients' cohort from Qatar. A population specific founder variant.
Abdel Aleem A, Elsaid MF, Chalhoub N, Chakroun A, Mohamed KAS, AlShami R, Kuzu O, Mohamed RB, Ibrahim K, AlMudheki N, Osman O, Ross ME, ELalamy O. Abdel Aleem A, et al. Among authors: chalhoub n. Neuromuscul Disord. 2020 Jun;30(6):457-471. doi: 10.1016/j.nmd.2020.03.009. Epub 2020 Apr 17. Neuromuscul Disord. 2020. PMID: 32444167
Systems biology analysis of human genomes points to key pathways conferring spina bifida risk.
Aguiar-Pulido V, Wolujewicz P, Martinez-Fundichely A, Elhaik E, Thareja G, Abdel Aleem A, Chalhoub N, Cuykendall T, Al-Zamer J, Lei Y, El-Bashir H, Musser JM, Al-Kaabi A, Shaw GM, Khurana E, Suhre K, Mason CE, Elemento O, Finnell RH, Ross ME. Aguiar-Pulido V, et al. Among authors: chalhoub n. Proc Natl Acad Sci U S A. 2021 Dec 21;118(51):e2106844118. doi: 10.1073/pnas.2106844118. Proc Natl Acad Sci U S A. 2021. PMID: 34916285 Free PMC article.
40 results