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Page 1
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Quinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn SE, Iglesias-Romero AB, Boonen EGM, Ullah M, Zomer N, Folcher M, Bijon J, Holtes LK, Tsang SH, Corradi Z, Freund KB, Shliaga S, Panneman DM, Hitti-Malin RJ, Ali M, AlTalbishi A, Andréasson S, Ansari G, Arno G, Astuti GDN, Ayuso C, Ayyagari R, Banfi S, Banin E, Barboni MTS, Bauwens M, Ben-Yosef T, Birch DG, Biswas P, Blanco-Kelly F, Bocquet B, Boon CJF, Branham K, Britten-Jones AC, Bujakowska KM, Cadena EL, Calzetti G, Cancellieri F, Cattaneo L, Issa PC, Chadderton N, Coutinho-Santos L, Daiger SP, De Baere E, de la Cerda B, De Roach JN, De Zaeytijd J, Derks R, Dhaenens CM, Dudakova L, Duncan JL, Farrar GJ, Feltgen N, Fernández-Caballero L, Sallum JMF, Gana S, Garanto A, Gardner JC, Gilissen C, Goto K, Gonzàlez-Duarte R, Griffiths-Jones S, Haack TB, Haer-Wigman L, Hardcastle AJ, Hayashi T, Héon E, Hoischen A, Holtan JP, Hoyng CB, Ibanez MBB, Inglehearn CF, Iwata T, Jones K, Kalatzis V, Kamakari S, Karali M, Kellner U, Knézy K, Klaver CCW, Koenekoop RK, Kohl S, Kominami T, Kühlewein L, Lamey TM, Leroy BP, Martín-Gutiérrez MP, Martins N, Mauring L, Leibu R, Lin S, Liskova P, Lopez I, López-Rodríguez VRJ, Mahroo OA, Mane… See abstract for full author list ➔ Quinodoz M, et al. Among authors: astuti gdn. medRxiv [Preprint]. 2025 Jan 6:2025.01.06.24317169. doi: 10.1101/2025.01.06.24317169. medRxiv. 2025. PMID: 39830270 Free PMC article. Preprint.
Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach.
de Bruijn SE, Panneman DM, Weisschuh N, Cadena EL, Boonen EGM, Holtes LK, Astuti GDN, Cremers FPM, Leijsten N, Corominas J, Gilissen C, Skowronska A, Woodley J, Beggs AD, Toulis V, Chen D, Cheetham ME, Hardcastle AJ, McLaren TL, Lamey TM, Thompson JA, Chen FK, de Roach JN, Urwin IR, Sullivan LS, Roosing S. de Bruijn SE, et al. Among authors: astuti gdn. Front Genet. 2024 Oct 23;15:1469686. doi: 10.3389/fgene.2024.1469686. eCollection 2024. Front Genet. 2024. PMID: 39507620 Free PMC article.
Lipopeptide-mediated Cas9 RNP delivery: A promising broad therapeutic strategy for safely removing deep-intronic variants in ABCA4.
Vázquez-Domínguez I, Öktem M, Winkelaar FA, Nguyen TH, Hoogendoorn ADM, Roschi E, Astuti GDN, Timmermans R, Suárez-Herrera N, Bruno I, Ruiz-Llombart A, Brealey J, de Jong OG, Collin RWJ, Mastrobattista E, Garanto A. Vázquez-Domínguez I, et al. Among authors: astuti gdn. Mol Ther Nucleic Acids. 2024 Sep 26;35(4):102345. doi: 10.1016/j.omtn.2024.102345. eCollection 2024 Dec 10. Mol Ther Nucleic Acids. 2024. PMID: 39494150 Free PMC article.
Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.
Velde HM, Vaseghi-Shanjani M, Smits JJ, Ramakrishnan G, Oostrik J, Wesdorp M, Astuti G, Yntema HG, Hoefsloot L, Lanting CP, Huynen MA, Lehman A, Turvey SE; DOOFNL Consortium; Pennings RJE, Kremer H. Velde HM, et al. Among authors: astuti g. Hum Genet. 2024 Nov;143(11):1379-1399. doi: 10.1007/s00439-024-02706-w. Epub 2024 Oct 16. Hum Genet. 2024. PMID: 39406892 Free PMC article.
43 results