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Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.
Husain RA, Jiao X, Hennings JC, Giesecke J, Palsule G, Beck-Wödl S, Osmanović D, Bjørgo K, Mir A, Ilyas M, Abbasi SM, Efthymiou S, Dominik N, Maroofian R, Houlden H, Rankin J, Pagnamenta AT, Nashabat M, Altwaijri W, Alfadhel M, Umair M, Khouj E, Reardon W, El-Hattab AW, Mekki M, Houge G, Beetz C, Bauer P, Putoux A, Lesca G, Sanlaville D, Alkuraya FS, Taylor RW, Mentzel HJ, Hübner CA, Huppke P, Hart RP, Haack TB, Kiledjian M, Rubio I. Husain RA, et al. Among authors: putoux a. Brain. 2024 Apr 4;147(4):1197-1205. doi: 10.1093/brain/awad434. Brain. 2024. PMID: 38141063
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.
Gueneau L, Fish RJ, Shamseldin HE, Voisin N, Tran Mau-Them F, Preiksaitiene E, Monroe GR, Lai A, Putoux A, Allias F, Ambusaidi Q, Ambrozaityte L, Cimbalistienė L, Delafontaine J, Guex N, Hashem M, Kurdi W, Jamuar SS, Ying LJ, Bonnard C, Pippucci T, Pradervand S, Roechert B, van Hasselt PM, Wiederkehr M, Wright CF; DDD Study; Xenarios I, van Haaften G, Shaw-Smith C, Schindewolf EM, Neerman-Arbez M, Sanlaville D, Lesca G, Guibaud L, Reversade B, Chelly J, Kučinskas V, Alkuraya FS, Reymond A. Gueneau L, et al. Among authors: putoux a. Am J Hum Genet. 2018 Jan 4;102(1):116-132. doi: 10.1016/j.ajhg.2017.12.002. Epub 2017 Dec 28. Am J Hum Genet. 2018. PMID: 29290337 Free PMC article.
Postnatal clinical phenotype of five patients with Pallister-Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature.
Alqahtani AS, Putoux A, Bonnet Dupeyron MN, Carneiro M, Lion-Francois L, Rossi M, Tevissen H, Schluth Bolard C, Labalme A, Lesca G, Till M, Edery P, Sanlaville D. Alqahtani AS, et al. Among authors: putoux a. Mol Genet Genomic Med. 2019 Oct;7(10):e00939. doi: 10.1002/mgg3.939. Epub 2019 Aug 27. Mol Genet Genomic Med. 2019. PMID: 31454185 Free PMC article.
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.
De Nittis P, Efthymiou S, Sarre A, Guex N, Chrast J, Putoux A, Sultan T, Raza Alvi J, Ur Rahman Z, Zafar F, Rana N, Rahman F, Anwar N, Maqbool S, Zaki MS, Gleeson JG, Murphy D, Galehdari H, Shariati G, Mazaheri N, Sedaghat A; SYNAPS Study Group; Lesca G, Chatron N, Salpietro V, Christoforou M, Houlden H, Simonds WF, Pedrazzini T, Maroofian R, Reymond A. De Nittis P, et al. Among authors: putoux a. J Med Genet. 2021 Dec;58(12):815-831. doi: 10.1136/jmedgenet-2020-107015. Epub 2020 Nov 10. J Med Genet. 2021. PMID: 33172956 Free PMC article.
Description of a novel patient with the TRPM3 recurrent p.Val837Met variant.
Gauthier LW, Chatron N, Cabet S, Labalme A, Carneiro M, Poirot I, Delvert C, Gleizal A, Lesca G, Putoux A. Gauthier LW, et al. Among authors: putoux a. Eur J Med Genet. 2021 Nov;64(11):104320. doi: 10.1016/j.ejmg.2021.104320. Epub 2021 Aug 23. Eur J Med Genet. 2021. PMID: 34438093
68 results