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Page 1
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.
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.
Steyaert W, Sagath L, Demidov G, Yépez VA, Esteve-Codina A, Gagneur J, Ellwanger K, Derks R, Weiss M, den Ouden A, van den Heuvel S, Swinkels H, Zomer N, Steehouwer M, O'Gorman L, Astuti G, Neveling K, Schüle R, Xu J, Synofzik M, Beijer D, Hengel H, Schöls L, Claeys KG, Baets J, Van de Vondel L, Ferlini A, Selvatici R, Morsy H, Saeed Abd Elmaksoud M, Straub V, Müller J, Pini V, Perry L, Sarkozy A, Zaharieva I, Muntoni F, Bugiardini E, Polavarapu K, Horvath R, Reid E, Lochmüller H, Spinazzi M, Savarese M; Solve-RD DITF-ITHACA; Solve-RD DITF-Euro-NMD; Solve-RD DITF-RND; Solve-RD DITF-EpiCARE; Matalonga L, Laurie S, Brunner HG, Graessner H, Beltran S, Ossowski S, Vissers LELM, Gilissen C, Hoischen A. Steyaert W, et al. Among authors: astuti g. medRxiv [Preprint]. 2024 May 4:2024.05.03.24305331. doi: 10.1101/2024.05.03.24305331. medRxiv. 2024. PMID: 38746462 Free PMC article. Preprint.
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ, Panneman DM, Corradi Z, Boonen EGM, Astuti G, Dhaenens CM, Stöhr H, Weber BHF, Sharon D, Banin E, Karali M, Banfi S, Ben-Yosef T, Glavač D, Farrar GJ, Ayuso C, Liskova P, Dudakova L, Vajter M, Ołdak M, Szaflik JP, Matynia A, Gorin MB, Kämpjärvi K, Bauwens M, De Baere E, Hoyng CB, Li CHZ, Klaver CCW, Inglehearn CF, Fujinami K, Rivolta C, Allikmets R, Zernant J, Lee W, Podhajcer OL, Fakin A, Sajovic J, AlTalbishi A, Valeina S, Taurina G, Vincent AL, Roberts L, Ramesar R, Sartor G, Luppi E, Downes SM, van den Born LI, McLaren TL, De Roach JN, Lamey TM, Thompson JA, Chen FK, Tracewska AM, Kamakari S, Sallum JMF, Bolz HJ, Kayserili H, Roosing S, Cremers FPM. Hitti-Malin RJ, et al. Among authors: astuti g. Biomolecules. 2024 Mar 19;14(3):367. doi: 10.3390/biom14030367. Biomolecules. 2024. PMID: 38540785 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.
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.
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.
35 results