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Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder.
Maroofian R, Efthymiou S, Suri M, Rahman F, Zaki MS, Maqbool S, Anwa N, Ruiz-Pérez VL, Yanovsky-Dagan S, Elpeleg O, Sudhakar S, Mankad K, Harel T, Houlden H. Maroofian R, et al. Among authors: ruiz perez vl. J Med Genet. 2023 Aug;60(8):791-796. doi: 10.1136/jmg-2022-108566. Epub 2022 Dec 29. J Med Genet. 2023. PMID: 36581449 Free PMC article.
Evc regulates a symmetrical response to Shh signaling in molar development.
Nakatomi M, Hovorakova M, Gritli-Linde A, Blair HJ, MacArthur K, Peterka M, Lesot H, Peterkova R, Ruiz-Perez VL, Goodship JA, Peters H. Nakatomi M, et al. J Dent Res. 2013 Mar;92(3):222-8. doi: 10.1177/0022034512471826. Epub 2013 Jan 11. J Dent Res. 2013. PMID: 23315474
FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.
Doyard M, Bacrot S, Huber C, Di Rocco M, Goldenberg A, Aglan MS, Brunelle P, Temtamy S, Michot C, Otaify GA, Haudry C, Castanet M, Leroux J, Bonnefont JP, Munnich A, Baujat G, Lapunzina P, Monnot S, Ruiz-Perez VL, Cormier-Daire V. Doyard M, et al. J Med Genet. 2018 Apr;55(4):278-284. doi: 10.1136/jmedgenet-2017-104999. Epub 2018 Jan 22. J Med Genet. 2018. PMID: 29358272
Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly.
Horn D, Fernández-Núñez E, Gomez-Carmona R, Rivera-Barahona A, Nevado J, Schwartzmann S, Ehmke N, Lapunzina P, Otaify GA, Temtamy S, Aglan M, Boschann F, Ruiz-Perez VL. Horn D, et al. Genet Med. 2021 Apr;23(4):679-688. doi: 10.1038/s41436-020-01052-2. Epub 2021 Jan 13. Genet Med. 2021. PMID: 33442026 Free article.
FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.
Cospain A, Rivera-Barahona A, Dumontet E, Gener B, Bailleul-Forestier I, Meyts I, Jouret G, Isidor B, Brewer C, Wuyts W, Moens L, Delafontaine S, Keung Lam WW, Van Den Bogaert K, Boogaerts A, Scalais E, Besnard T, Cogne B, Guissard C, Rollier P, Carre W, Bouvet R, Tarte K, Gómez-Carmona R, Lapunzina P, Odent S, Faoucher M, Dubourg C, Ruiz-Pérez VL, Devriendt K, Pasquier L, Pérez-Jurado LA. Cospain A, et al. Among authors: ruiz perez vl. Genet Med. 2022 Dec;24(12):2475-2486. doi: 10.1016/j.gim.2022.09.002. Epub 2022 Oct 4. Genet Med. 2022. PMID: 36197437 Free article.
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.
Altunoglu U, Palencia-Campos A, Güneş N, Turgut GT, Nevado J, Lapunzina P, Valencia M, Iturrate A, Otaify G, Elhossini R, Ashour A, K Amin A, Elnahas RF, Fernandez-Nuñez E, Flores CL, Arias P, Tenorio J, Chamorro Fernández CI, Güven Y, Özsu E, Eklioğlu BS, Ibarra-Ramirez M, Diness BR, Burnyte B, Ajmi H, Yüksel Z, Yıldırım R, Ünal E, Abdalla E, Aglan M, Kayserili H, Tuysuz B, Ruiz-Pérez V. Altunoglu U, et al. J Med Genet. 2024 Mar 26:jmg-2023-109546. doi: 10.1136/jmg-2023-109546. Online ahead of print. J Med Genet. 2024. PMID: 38531627
66 results