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Year | Number of Results |
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2022 | 1 |
2023 | 3 |
2024 | 3 |
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Page 1
Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration.
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.
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.
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Combined Single Gene Testing and Genome Sequencing as an Effective Diagnostic Approach for Anophthalmia and Microphthalmia Patients.
Basharat R, Rodenburg K, Rodríguez-Hidalgo M, Jarral A, Ullah E, Corominas J, Gilissen C, Zehra ST, Hameed U, Ansar M, de Bruijn SE.
Basharat R, et al. Among authors: rodenburg k.
Genes (Basel). 2023 Aug 1;14(8):1573. doi: 10.3390/genes14081573.
Genes (Basel). 2023.
PMID: 37628625
Free PMC article.
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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.
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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 May 29:100314. doi: 10.1016/j.xhgg.2024.100314. Online ahead of print.
HGG Adv. 2024.
PMID: 38816995
Free article.
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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 May 28;244:109945. doi: 10.1016/j.exer.2024.109945. Online ahead of print.
Exp Eye Res. 2024.
PMID: 38815792
Free article.
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