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Page 1
NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield.
Overwater E, Floor K, van Beek D, de Boer K, van Dijk T, Hilhorst-Hofstee Y, Hoogeboom AJM, van Kaam KJ, van de Kamp JM, Kempers M, Krapels IPC, Kroes HY, Loeys B, Salemink S, Stumpel CTRM, Verhoeven VJM, Wijnands-van den Berg E, Cobben JM, van Tintelen JP, Weiss MM, Houweling AC, Maugeri A. Overwater E, et al. Among authors: weiss mm. Eur J Med Genet. 2017 Sep;60(9):465-473. doi: 10.1016/j.ejmg.2017.06.005. Epub 2017 Jun 19. Eur J Med Genet. 2017. PMID: 28642162
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
Hemati P, Revah-Politi A, Bassan H, Petrovski S, Bilancia CG, Ramsey K, Griffin NG, Bier L, Cho MT, Rosello M, Lynch SA, Colombo S, Weber A, Haug M, Heinzen EL, Sands TT, Narayanan V, Primiano M, Aggarwal VS, Millan F, Sattler-Holtrop SG, Caro-Llopis A, Pillar N, Baker J, Freedman R, Kroes HY, Sacharow S, Stong N, Lapunzina P, Schneider MC, Mendelsohn NJ, Singleton A, Loik Ramey V, Wou K, Kuzminsky A, Monfort S, Weiss M, Doyle S, Iglesias A, Martinez F, Mckenzie F, Orellana C, van Gassen KLI, Palomares M, Bazak L, Lee A, Bircher A, Basel-Vanagaite L, Hafström M, Houge G; C4RCD Research Group; DDD study; Goldstein DB, Anyane-Yeboa K. Hemati P, et al. Am J Med Genet A. 2018 Nov;176(11):2259-2275. doi: 10.1002/ajmg.a.40472. Epub 2018 Sep 8. Am J Med Genet A. 2018. PMID: 30194818 Review.
Recurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy.
Otten E, Lekanne Dit Deprez RH, Weiss MM, van Slegtenhorst M, Joosten M, van der Smagt JJ, de Jonge N, Kerstjens-Frederikse WS, Roofthooft MT, Balk AH, van den Berg MP, Ruiter JS, van Tintelen JP. Otten E, et al. Among authors: weiss mm. Neth Heart J. 2010 Oct;18(10):478-85. doi: 10.1007/BF03091819. Neth Heart J. 2010. PMID: 20978592 Free PMC article.
HiFi long-read genomes for difficult-to-detect, clinically relevant variants.
Höps W, Weiss MM, Derks R, Galbany JC, Ouden AD, van den Heuvel S, Timmermans R, Smits J, Mokveld T, Dolzhenko E, Chen X, van den Wijngaard A, Eberle MA, Yntema HG, Hoischen A, Gilissen C, Vissers LELM. Höps W, et al. Among authors: weiss mm. Am J Hum Genet. 2025 Jan 4:S0002-9297(24)00455-5. doi: 10.1016/j.ajhg.2024.12.013. Online ahead of print. Am J Hum Genet. 2025. PMID: 39809270
KT-253, A Novel MDM2 Degrader and p53 Stabilizer, Has Superior Potency and Efficacy Than MDM2 Small Molecule Inhibitors.
Chutake YK, Mayo MF, Dumont N, Filiatrault J, Breitkopf SB, Cho P, Chen D, Dixit VS, Proctor WR, Kuhn EW, Bollinger Martinez S, McDonald AA, Qi J, Hu KN, Karnik R, Growney JD, Sharma K, Schalm SS, Gollerkeri AM, Mainolfi N, Williams JA, Weiss MM. Chutake YK, et al. Among authors: weiss mm. Mol Cancer Ther. 2024 Dec 9. doi: 10.1158/1535-7163.MCT-24-0306. Online ahead of print. Mol Cancer Ther. 2024. PMID: 39648478
Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.
Vorsteveld EE, Van der Made CI, Smeekens SP, Schuurs-Hoeijmakers JH, Astuti G, Diepstra H, Gilissen C, Hoenselaar E, Janssen A, van Roozendaal K, Engelen JS, Steyaert W, Weiss MM, Yntema HG, Mantere T, AlZahrani MS, van Aerde K, Derfalvi B, Faqeih EA, Henriet SSV, van Hoof E, Idressi E, Issekutz TB, Jongmans MCJ, Keski-Filppula R, Krapels I, Te Loo M, Mulders-Manders CM, Ten Oever J, Potjewijd J, Sarhan NT, Slot MC, Terhal PA, Thijs H, Vandersteen A, Vanhoutte EK, van de Veerdonk F, van Well G, Netea MG; all members of the Radboud University Medical Center multidisciplinary immune-disease board; Simons A, Hoischen A. Vorsteveld EE, et al. Among authors: weiss mm. Clin Immunol. 2024 Nov;268:110375. doi: 10.1016/j.clim.2024.110375. Epub 2024 Oct 5. Clin Immunol. 2024. PMID: 39369972 Free article.
Prenatal cell-free DNA testing of women with pregnancy-associated cancer: a retrospective cross-sectional study.
Heesterbeek CJ, Tjan-Heijnen VCG, Heimovaara JH, Lenaerts L, Lok C, Vriens IJH, Van Opstal D, Boon EMJ, Sie D, de Die-Smulders CEM, Amant F, Macville MVE; Dutch NIPT Consortium. Heesterbeek CJ, et al. Lancet Reg Health Eur. 2024 Aug 7;45:101024. doi: 10.1016/j.lanepe.2024.101024. eCollection 2024 Oct. Lancet Reg Health Eur. 2024. PMID: 39220433 Free PMC article.
Discovery of KT-474─a Potent, Selective, and Orally Bioavailable IRAK4 Degrader for the Treatment of Autoimmune Diseases.
Zheng X, Ji N, Campbell V, Slavin A, Zhu X, Chen D, Rong H, Enerson B, Mayo M, Sharma K, Browne CM, Klaus CR, Li H, Massa G, McDonald AA, Shi Y, Sintchak M, Skouras S, Walther DM, Yuan K, Zhang Y, Kelleher J, Liu G, Luo X, Mainolfi N, Weiss MM. Zheng X, et al. Among authors: weiss mm. J Med Chem. 2024 Oct 24;67(20):18022-18037. doi: 10.1021/acs.jmedchem.4c01305. Epub 2024 Aug 16. J Med Chem. 2024. PMID: 39151120 Free PMC article. Clinical Trial.
172 results