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Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.
de Bruijn SE, Rodenburg K, Corominas J, Ben-Yosef T, Reurink J, Kremer H, Whelan L, Plomp AS, Berger W, Farrar GJ, Ferenc Kovács Á, Fajardy I, Hitti-Malin RJ, Weisschuh N, Weener ME, Sharon D, Pennings RJE, Haer-Wigman L, Hoyng CB, Nelen MR, Vissers LELM, van den Born LI, Gilissen C, Cremers FPM, Hoischen A, Neveling K, Roosing S. de Bruijn SE, et al. Among authors: rodenburg k. Genet Med. 2023 Mar;25(3):100345. doi: 10.1016/j.gim.2022.11.013. Epub 2022 Dec 16. Genet Med. 2023. PMID: 36524988 Free article.
ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease.
Rodríguez-Hidalgo M, de Bruijn SE, Corradi Z, Rodenburg K, Lara-López A, Valverde-Megías A, Ávila-Fernández A, Fernandez-Caballero L, Del Pozo-Valero M, Corominas J, Gilissen C, Irigoyen C, Cremers FPM, Ayuso C, Ruiz-Ederra J, Roosing S. Rodríguez-Hidalgo M, et al. Among authors: rodenburg k. Front Genet. 2023 Sep 7;14:1234032. doi: 10.3389/fgene.2023.1234032. eCollection 2023. Front Genet. 2023. PMID: 37779911 Free PMC article.
Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration.
Han JH, Rodenburg K, Hayman T, Calzetti G, Kaminska K, Quinodoz M, Marra M, Wallerich S, Allon G, Nagy ZZ, Knézy K, Li Y, Chen R, Barboni MTS, Yang P, Pennesi ME, van den Born LI, Varsányi B, Szabó V, Sharon D, Banin E, Ben-Yosef T, Roosing S, Koenekoop RK, Rivolta C. Han JH, et al. Among authors: rodenburg k. Genet Med. 2024 Jun;26(6):101106. doi: 10.1016/j.gim.2024.101106. Epub 2024 Feb 28. Genet Med. 2024. PMID: 38420906 Free article.
Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan.
Basharat R, de Bruijn SE, Zahid M, Rodenburg K, Hitti-Malin RJ, Rodríguez-Hidalgo M, Boonen EGM, Jarral A, Mahmood A, Corominas J, Khalil S, Zai JA, Ali G, Ruiz-Ederra J, Gilissen C, Cremers FPM, Ansar M, Panneman DM, Roosing S. Basharat R, et al. Among authors: rodenburg k. Exp Eye Res. 2024 Jul;244:109945. doi: 10.1016/j.exer.2024.109945. Epub 2024 May 28. Exp Eye Res. 2024. PMID: 38815792 Free article.
Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients.
Zeuli R, Karali M, de Bruijn SE, Rodenburg K, Scarpato M, Capasso D, Astuti GDN, Gilissen C, Rodríguez-Hidalgo M, Ruiz-Ederra J, Testa F, Simonelli F, Cremers FPM, Banfi S, Roosing S. Zeuli R, et al. Among authors: rodenburg k. HGG Adv. 2024 Jul 18;5(3):100314. doi: 10.1016/j.xhgg.2024.100314. Epub 2024 May 29. HGG Adv. 2024. PMID: 38816995 Free PMC article.
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: rodenburg k. medRxiv [Preprint]. 2025 Jan 6:2025.01.06.24317169. doi: 10.1101/2025.01.06.24317169. medRxiv. 2025. PMID: 39830270 Free PMC article. Preprint.
Soluble Signal Inhibitory Receptor on Leukocytes-1 Is Released from Activated Neutrophils by Proteinase 3 Cleavage.
von Richthofen HJ, Westerlaken GHA, Gollnast D, Besteman S, Delemarre EM, Rodenburg K, Moerer P, Stapels DAC, Andiappan AK, Rötzschke O, Nierkens S, Leavis HL, Bont LJ, Rooijakkers SHM, Meyaard L. von Richthofen HJ, et al. Among authors: rodenburg k. J Immunol. 2023 Feb 15;210(4):389-397. doi: 10.4049/jimmunol.2200169. J Immunol. 2023. PMID: 36637221 Free PMC article.
Multi-omics analyses of MEN1 missense mutations identify disruption of menin-MLL and menin-JunD interactions as critical requirements for molecular pathogenicity.
Dreijerink KMA, Ozyerli-Goknar E, Koidl S, van der Lelij EJ, van den Heuvel P, Kooijman JJ, Biniossek ML, Rodenburg KW, Nizamuddin S, Timmers HTM. Dreijerink KMA, et al. Among authors: rodenburg kw. Epigenetics Chromatin. 2022 Aug 9;15(1):29. doi: 10.1186/s13072-022-00461-8. Epigenetics Chromatin. 2022. PMID: 35941657 Free PMC article.
47 results