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A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial-temporal regulation of histone arginine methylation in neurodevelopment.
Lin X, Wang W, Yang M, Damseh N, de Sousa MML, Jacob F, Lång A, Kristiansen E, Pannone M, Kissova M, Almaas R, Kuśnierczyk A, Siller R, Shahrour M, Al-Ashhab M, Abu-Libdeh B, Tang W, Slupphaug G, Elpeleg O, Bøe SO, Eide L, Sullivan GJ, Rinholm JE, Song H, Ming GL, van Loon B, Edvardson S, Ye J, Bjørås M. Lin X, et al. Among authors: al ashhab m. Genome Biol. 2023 Sep 29;24(1):216. doi: 10.1186/s13059-023-03037-1. Genome Biol. 2023. PMID: 37773136 Free PMC article.
Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.
Damseh N, Simonin A, Jalas C, Picoraro JA, Shaag A, Cho MT, Yaacov B, Neidich J, Al-Ashhab M, Juusola J, Bale S, Telegrafi A, Retterer K, Pappas JG, Moran E, Cappell J, Anyane Yeboa K, Abu-Libdeh B, Hediger MA, Chung WK, Elpeleg O, Edvardson S. Damseh N, et al. J Med Genet. 2015 Aug;52(8):541-7. doi: 10.1136/jmedgenet-2015-103104. Epub 2015 Jun 3. J Med Genet. 2015. PMID: 26041762
Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals.
Sczakiel HL, Zhao M, Wollert-Wulf B, Danyel M, Ehmke N, Stoltenburg C, Damseh N, Al-Ashhab M, Balci TB, Osmond M, Andrade A, Schallner J, Porrmann J, McDonald K, Liao M, Oppermann H, Platzer K, Dierksen N, Mojarrad M, Eslahi A, Bakaeean B, Calame DG, Lupski JR, Firoozfar Z, Seyedhassani SM, Mohammadi SA, Anwaar N, Rahman F, Seelow D, Janz M, Horn D, Maroofian R, Boschann F. Sczakiel HL, et al. Among authors: al ashhab m. Eur J Hum Genet. 2023 Aug;31(8):905-917. doi: 10.1038/s41431-023-01382-0. Epub 2023 May 15. Eur J Hum Genet. 2023. PMID: 37188825 Free PMC article.
17 results