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Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia.
Asif M, Khayyat AIA, Alawbathani S, Abdullah U, Sanner A, Georgomanolis T, Haasters J, Becker K, Budde B, Becker C, Thiele H, Baig SM, Isidoro-García M, Winter D, Pogoda HM, Muhammad S, Hammerschmidt M, Kraft F, Kurth I, Martin HG, Wagner M, Nürnberg P, Hussain MS. Asif M, et al. Among authors: alawbathani s. Genet Med. 2024 Apr 16;26(7):101143. doi: 10.1016/j.gim.2024.101143. Online ahead of print. Genet Med. 2024. PMID: 38641995 Free article.
Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder.
Westrip CAE, Paul F, Al-Murshedi F, Qaitoon H, Cham B, Fletcher SC, Hendrix E, Boora U, Ng AYJ, Bonnard C, Najafi M, Alawbathani S, Lambert I, Fox G, Venkatesh B, Bertoli-Avella A, Tan ES, Al-Maawali A, Reversade B, Coleman ML. Westrip CAE, et al. Among authors: alawbathani s. Genet Med. 2023 Sep;25(9):100893. doi: 10.1016/j.gim.2023.100893. Epub 2023 May 11. Genet Med. 2023. PMID: 37179472 Free article.
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.
Thomas Q, Motta M, Gautier T, Zaki MS, Ciolfi A, Paccaud J, Girodon F, Boespflug-Tanguy O, Besnard T, Kerkhof J, McConkey H, Masson A, Denommé-Pichon AS, Cogné B, Trochu E, Vignard V, El It F, Rodan LH, Alkhateeb MA, Jamra RA, Duplomb L, Tisserant E, Duffourd Y, Bruel AL, Jackson A, Banka S, McEntagart M, Saggar A, Gleeson JG, Sievert D, Bae H, Lee BH, Kwon K, Seo GH, Lee H, Saeed A, Anjum N, Cheema H, Alawbathani S, Khan I, Pinto-Basto J, Teoh J, Wong J, Sahari UBM, Houlden H, Zhelcheska K, Pannetier M, Awad MA, Lesieur-Sebellin M, Barcia G, Amiel J, Delanne J, Philippe C, Faivre L, Odent S, Bertoli-Avella A, Thauvin C, Sadikovic B, Reversade B, Maroofian R, Govin J, Tartaglia M, Vitobello A. Thomas Q, et al. Among authors: alawbathani s. Am J Hum Genet. 2022 Oct 6;109(10):1909-1922. doi: 10.1016/j.ajhg.2022.08.008. Epub 2022 Aug 30. Am J Hum Genet. 2022. PMID: 36044892 Free PMC article.
Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling.
Dufour W, Alawbathani S, Jourdain AS, Asif M, Baujat G, Becker C, Budde B, Gallacher L, Georgomanolis T, Ghoumid J, Höhne W, Lyonnet S, Ba-Saddik IA, Manouvrier-Hanu S, Motameny S, Noegel AA, Pais L, Vanlerberghe C, Wagle P, White SM, Willems M, Nürnberg P, Escande F, Petit F, Hussain MS. Dufour W, et al. Among authors: alawbathani s. Genet Med. 2022 Aug;24(8):1708-1721. doi: 10.1016/j.gim.2022.04.022. Epub 2022 May 18. Genet Med. 2022. PMID: 35583550 Free article.
Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities.
Alawbathani S, Westenberger A, Ordonez-Herrera N, Al-Hilali M, Al Hebby H, Alabbas F, Alhashem AM, Elyamany G, Megarbane A, Kose M, Alhashmi N, Al Sukaiti N, Al-Raqad M, Al-Tawalbeh S, Abu Adas Blanco O, Alkhattabi F, Sng D, Al-Ali R, Khan S, Tawamie H, Tripolszki K, Karageorgou V, Trunzo R, Al Mutairi F, Reversade B, Bauer P, Bertoli-Avella AM. Alawbathani S, et al. Clin Genet. 2022 Feb;101(2):247-254. doi: 10.1111/cge.14081. Epub 2021 Nov 6. Clin Genet. 2022. PMID: 34708404
16 results