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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2011 1
2012 1
2014 1
2015 3
2016 2
2017 1
2018 2
2019 1
2020 1
2021 1
2022 5
2023 7
2024 3

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25 results

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Page 1
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
van der Spek J, den Hoed J, Snijders Blok L, Dingemans AJM, Schijven D, Nellaker C, Venselaar H, Astuti GDN, Barakat TS, Bebin EM, Beck-Wödl S, Beunders G, Brown NJ, Brunet T, Brunner HG, Campeau PM, Čuturilo G, Gilissen C, Haack TB, Hüning I, Husain RA, Kamien B, Lim SC, Lovrecic L, Magg J, Maver A, Miranda V, Monteil DC, Ockeloen CW, Pais LS, Plaiasu V, Raiti L, Richmond C, Rieß A, Schwaibold EMC, Simon MEH, Spranger S, Tan TY, Thompson ML, de Vries BBA, Wilkins EJ, Willemsen MH, Francks C, Vissers LELM, Fisher SE, Kleefstra T. van der Spek J, et al. Among authors: astuti gdn. Genet Med. 2022 Jun;24(6):1283-1296. doi: 10.1016/j.gim.2022.02.014. Epub 2022 Mar 26. Genet Med. 2022. PMID: 35346573 Free article.
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
Reurink J, Weisschuh N, Garanto A, Dockery A, van den Born LI, Fajardy I, Haer-Wigman L, Kohl S, Wissinger B, Farrar GJ, Ben-Yosef T, Pfiffner FK, Berger W, Weener ME, Dudakova L, Liskova P, Sharon D, Salameh M, Offenheim A, Heon E, Girotto G, Gasparini P, Morgan A, Bergen AA, Ten Brink JB, Klaver CCW, Tranebjærg L, Rendtorff ND, Vermeer S, Smits JJ, Pennings RJE, Aben M, Oostrik J, Astuti GDN, Corominas Galbany J, Kroes HY, Phan M, van Zelst-Stams WAG, Thiadens AAHJ, Verheij JBGM, van Schooneveld MJ, de Bruijn SE, Li CHZ, Hoyng CB, Gilissen C, Vissers LELM, Cremers FPM, Kremer H, van Wijk E, Roosing S. Reurink J, et al. Among authors: astuti gdn. HGG Adv. 2023 Jan 18;4(2):100181. doi: 10.1016/j.xhgg.2023.100181. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 36785559 Free PMC article.
Wnt genes in colonic polyposis predisposition.
Quintana I, Terradas M, Mur P, Te Paske IBAW, Peters S, Spier I, Steinke-Lange V, Maestro C, Torrents D, Puiggròs M, Royo R, Tonda R, Parra G, Piscia D, Beltrán S, Navarro M, Piñol V, Brunet J, Gonzalez-Abuin N, Aiza G, Sommer A, van Herwaarden Y, Astuti G, Holinski-Feder E, Hoogerbrugge N, de Voer RM, Aretz S, Capellá G, Valle L. Quintana I, et al. Among authors: astuti g. Genes Dis. 2022 Dec 29;10(3):753-757. doi: 10.1016/j.gendis.2022.12.002. eCollection 2023 May. Genes Dis. 2022. PMID: 37396538 Free PMC article. No abstract available.
Patient-derived glioblastoma organoids reflect tumor heterogeneity and treatment sensitivity.
Verduin M, Hoosemans L, Vanmechelen M, van Heumen M, Piepers JAF, Astuti G, Ackermans L, Schijns OEMG, Kampen KR, Tjan-Heijnen VCG, de Barbanson BA, Postma AA, Eekers DBP, Broen MPG, Beckervordersandforth J, Staňková K, de Smet F, Rich J, Hubert CG, Gimenez G, Chatterjee A, Hoeben A, Vooijs MA. Verduin M, et al. Among authors: astuti g. Neurooncol Adv. 2023 Nov 25;5(1):vdad152. doi: 10.1093/noajnl/vdad152. eCollection 2023 Jan-Dec. Neurooncol Adv. 2023. PMID: 38130902 Free PMC article.
Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility.
Kumpula TA, Vorimo S, Mattila TT, O'Gorman L, Astuti G, Tervasmäki A, Koivuluoma S, Mattila TM, Grip M, Winqvist R, Kuismin O, Moilanen J, Hoischen A, Gilissen C, Mantere T, Pylkäs K. Kumpula TA, et al. Among authors: astuti g. PLoS Genet. 2023 Aug 14;19(8):e1010889. doi: 10.1371/journal.pgen.1010889. eCollection 2023 Aug. PLoS Genet. 2023. PMID: 37578974 Free PMC article.
Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing.
Haarman AEG, Klaver CCW, Tedja MS, Roosing S, Astuti G, Gilissen C, Hoefsloot LH, van Tienhoven M, Brands T, Magielsen FJ, Eussen BHJFMM, de Klein A, Brosens E, Verhoeven VJM. Haarman AEG, et al. Among authors: astuti g. Ophthalmol Sci. 2023 Apr 6;3(4):100303. doi: 10.1016/j.xops.2023.100303. eCollection 2023 Dec. Ophthalmol Sci. 2023. PMID: 37250922 Free PMC article.
CRISPR-Cas9 correction of a nonsense mutation in LCA5 rescues lebercilin expression and localization in human retinal organoids.
Afanasyeva TAV, Athanasiou D, Perdigao PRL, Whiting KR, Duijkers L, Astuti GDN, Bennett J, Garanto A, van der Spuy J, Roepman R, Cheetham ME, Collin RWJ. Afanasyeva TAV, et al. Among authors: astuti gdn. Mol Ther Methods Clin Dev. 2023 May 17;29:522-531. doi: 10.1016/j.omtm.2023.05.012. eCollection 2023 Jun 8. Mol Ther Methods Clin Dev. 2023. PMID: 37305852 Free PMC article.
Common and rare variants in patients with early onset drusen maculopathy.
de Breuk A, Lechanteur YTE, Astuti G, Galbany JC, Klaver CCW, Hoyng CB, den Hollander AI. de Breuk A, et al. Among authors: astuti g. Clin Genet. 2022 Nov;102(5):414-423. doi: 10.1111/cge.14212. Epub 2022 Sep 13. Clin Genet. 2022. PMID: 36053979 Free PMC article.
Early detection of active Human CytomegaloVirus (hCMV) infection in pregnant women using data generated for noninvasive fetal aneuploidy testing.
Faas BHW, Astuti G, Melchers WJG, Reuss A, Gilissen C, Macville MVE, Ghesquiere SAI, Houben LMH, Srebniak MI, Geeven G, Rahamat-Langendoen JC, Sistermans EA, Linthorst J. Faas BHW, et al. Among authors: astuti g. EBioMedicine. 2024 Feb;100:104983. doi: 10.1016/j.ebiom.2024.104983. Epub 2024 Feb 2. EBioMedicine. 2024. PMID: 38365322 Free PMC article.
25 results