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Page 1
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM, Hitti-Malin RJ, Holtes LK, de Bruijn SE, Reurink J, Boonen EGM, Khan MI, Ali M, Andréasson S, De Baere E, Banfi S, Bauwens M, Ben-Yosef T, Bocquet B, De Bruyne M, de la Cerda B, Coppieters F, Farinelli P, Guignard T, Inglehearn CF, Karali M, Kjellström U, Koenekoop R, de Koning B, Leroy BP, McKibbin M, Meunier I, Nikopoulos K, Nishiguchi KM, Poulter JA, Rivolta C, Rodríguez de la Rúa E, Saunders P, Simonelli F, Tatour Y, Testa F, Thiadens AAHJ, Toomes C, Tracewska AM, Tran HV, Ushida H, Vaclavik V, Verhoeven VJM, van de Vorst M, Gilissen C, Hoischen A, Cremers FPM, Roosing S. Panneman DM, et al. Among authors: vaclavik v. Front Cell Dev Biol. 2023 Feb 3;11:1112270. doi: 10.3389/fcell.2023.1112270. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 36819107 Free PMC article.
Statins in ophthalmology.
Ooi KG, Khoo P, Vaclavik V, Watson SL. Ooi KG, et al. Among authors: vaclavik v. Surv Ophthalmol. 2019 May-Jun;64(3):401-432. doi: 10.1016/j.survophthal.2019.01.013. Epub 2019 Jan 28. Surv Ophthalmol. 2019. PMID: 30703407 Review.
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 4th, 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, Manes G… See abstract for full author list ➔ Quinodoz M, et al. Among authors: vaclavik v. medRxiv [Preprint]. 2025 Jan 6:2025.01.06.24317169. doi: 10.1101/2025.01.06.24317169. medRxiv. 2025. PMID: 39830270 Free PMC article. Preprint.
Recycled Cellulose Fiber Reinforced Plaster.
Stevulova N, Vaclavik V, Hospodarova V, Dvorský T. Stevulova N, et al. Among authors: vaclavik v. Materials (Basel). 2021 May 31;14(11):2986. doi: 10.3390/ma14112986. Materials (Basel). 2021. PMID: 34072982 Free PMC article.
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression.
Malka S, Biswas P, Berry AM, Sangermano R, Ullah M, Lin S, D'Antonio M, Jestin A, Jiao X, Quinodoz M, Sullivan L, Gardner JC, Place EM, Michaelides M, Kaminska K, Mahroo OA, Schiff E, Wright G, Cancellieri F, Vaclavik V, Santos C, Rehman AU, Mehrotra S, Azhar Baig HM, Iqbal M, Ansar M, Santos LC, Sousa AB, Tran VH, Matsui H, Bhatia A, Naeem MA, Akram SJ, Akram J, Riazuddin S, Ayuso C, Pierce EA, Hardcastle AJ, Riazuddin SA, Frazer KA, Hejtmancik JF, Rivolta C, Bujakowska KM, Arno G, Webster AR, Ayyagari R. Malka S, et al. Among authors: vaclavik v. Am J Hum Genet. 2024 Sep 5;111(9):2012-2030. doi: 10.1016/j.ajhg.2024.07.020. Epub 2024 Aug 26. Am J Hum Genet. 2024. PMID: 39191256 Free PMC article.
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.
Kaminska K, Cancellieri F, Quinodoz M, Moye AR, Bauwens M, Lin S, Janeschitz-Kriegl L, Hayman T, Barberán-Martínez P, Schlaeger R, Van den Broeck F, Ávila Fernández A, Fernández-Caballero L, Perea-Romero I, García-García G, Salom D, Mazzola P, Zuleger T, Poths K, Haack TB, Jacob J, Vermeer S, Terbeek F, Feltgen N, Moulin AP, Koutroumanou L, Papadakis G, Browning AC, Madhusudhan S, Gränse L, Banin E, Sousa AB, Coutinho Santos L, Kuehlewein L, De Angeli P, Leroy BP, Mahroo OA, Sedgwick F, Eden J, Pfau M, Andréasson S, Scholl HPN, Ayuso C, Millán JM, Sharon D, Tsilimbaris MK, Vaclavik V, Tran HV, Ben-Yosef T, De Baere E, Webster AR, Arno G, Sergouniotis PI, Kohl S, Santos C, Rivolta C. Kaminska K, et al. Among authors: vaclavik v. Am J Hum Genet. 2025 Apr 3;112(4):808-828. doi: 10.1016/j.ajhg.2025.02.015. Epub 2025 Mar 12. Am J Hum Genet. 2025. PMID: 40081374 Free PMC article.
GNB1-Related Rod-Cone Dystrophy: A Case Report.
Conti GM, Cancellieri F, Quinodoz M, Kaminska K, Vaclavik V, Rivolta C, Tran HV. Conti GM, et al. Among authors: vaclavik v. Case Rep Ophthalmol. 2024 Mar 18;15(1):230-237. doi: 10.1159/000537997. eCollection 2024 Jan-Dec. Case Rep Ophthalmol. 2024. PMID: 38500542 Free PMC article.
A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models.
Corral-Serrano JC, Vaclavik V, Van de Sompele S, Kaminska K, Jovanovic K, Escher P, Van den Broeck F, Cancellieri F, Toulis V, Leroy BP, de Zaeytijd J, You Z, Ottaviani D, Quinodoz M, Bordeanu G, Hardcastle AJ, Coppieters F, Tran VH, Cheetham ME, Rivolta C, De Baere E. Corral-Serrano JC, et al. Among authors: vaclavik v. Hum Mol Genet. 2025 Apr 17;34(9):821-834. doi: 10.1093/hmg/ddaf029. Hum Mol Genet. 2025. PMID: 40037334 Free PMC article.
Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.
Karali M, García-García G, Kaminska K, AlTalbishi A, Cancellieri F, Testa F, Barillari MR, Panagiotou ES, Psillas G, Vaclavik V, Tran VH, Janeschitz-Kriegl L, Scholl HP, Salameh M, Barberán-Martínez P, Rodríguez-Muñoz A, Armengot M, Scarpato M, Zeuli R, Quinodoz M, Simonelli F, Rivolta C, Banfi S, Millán JM. Karali M, et al. Among authors: vaclavik v. Eur J Hum Genet. 2025 Jun;33(6):727-737. doi: 10.1038/s41431-024-01768-8. Epub 2024 Dec 13. Eur J Hum Genet. 2025. PMID: 39672920 Free PMC article.
57 results