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Page 1
Next-generation cytogenetics: Comprehensive assessment of 52 hematological malignancy genomes by optical genome mapping.
Neveling K, Mantere T, Vermeulen S, Oorsprong M, van Beek R, Kater-Baats E, Pauper M, van der Zande G, Smeets D, Weghuis DO, Stevens-Kroef MJPL, Hoischen A. Neveling K, et al. Among authors: pauper m. Am J Hum Genet. 2021 Aug 5;108(8):1423-1435. doi: 10.1016/j.ajhg.2021.06.001. Epub 2021 Jul 7. Am J Hum Genet. 2021. PMID: 34237281 Free PMC article.
Identification of ADHD risk genes in extended pedigrees by combining linkage analysis and whole-exome sequencing.
Corominas J, Klein M, Zayats T, Rivero O, Ziegler GC, Pauper M, Neveling K, Poelmans G, Jansch C, Svirin E, Geissler J, Weber H, Reif A, Arias Vasquez A, Galesloot TE, Kiemeney LALM, Buitelaar JK, Ramos-Quiroga JA, Cormand B, Ribasés M, Hveem K, Gabrielsen ME, Hoffmann P, Cichon S, Haavik J, Johansson S, Jacob CP, Romanos M, Franke B, Lesch KP. Corominas J, et al. Among authors: pauper m. Mol Psychiatry. 2020 Sep;25(9):2047-2057. doi: 10.1038/s41380-018-0210-6. Epub 2018 Aug 16. Mol Psychiatry. 2020. PMID: 30116028 Free PMC article.
DNA methylation associated with persistent ADHD suggests TARBP1 as novel candidate.
Weiß AL, Meijer M, Budeus B, Pauper M, Hakobjan M, Groothuismink J, Shi Y, Neveling K, Buitelaar JK, Hoogman M, Franke B, Klein M. Weiß AL, et al. Among authors: pauper m. Neuropharmacology. 2021 Feb 15;184:108370. doi: 10.1016/j.neuropharm.2020.108370. Epub 2020 Oct 31. Neuropharmacology. 2021. PMID: 33137342 Free article.
Long-read trio sequencing of individuals with unsolved intellectual disability.
Pauper M, Kucuk E, Wenger AM, Chakraborty S, Baybayan P, Kwint M, van der Sanden B, Nelen MR, Derks R, Brunner HG, Hoischen A, Vissers LELM, Gilissen C. Pauper M, et al. Eur J Hum Genet. 2021 Apr;29(4):637-648. doi: 10.1038/s41431-020-00770-0. Epub 2020 Nov 30. Eur J Hum Genet. 2021. PMID: 33257779 Free PMC article.
Optical genome mapping enables constitutional chromosomal aberration detection.
Mantere T, Neveling K, Pebrel-Richard C, Benoist M, van der Zande G, Kater-Baats E, Baatout I, van Beek R, Yammine T, Oorsprong M, Hsoumi F, Olde-Weghuis D, Majdali W, Vermeulen S, Pauper M, Lebbar A, Stevens-Kroef M, Sanlaville D, Dupont JM, Smeets D, Hoischen A, Schluth-Bolard C, El Khattabi L. Mantere T, et al. Among authors: pauper m. Am J Hum Genet. 2021 Aug 5;108(8):1409-1422. doi: 10.1016/j.ajhg.2021.05.012. Epub 2021 Jul 7. Am J Hum Genet. 2021. PMID: 34237280 Free PMC article.
Family-based exome sequencing identifies rare coding variants in age-related macular degeneration.
Ratnapriya R, Acar İE, Geerlings MJ, Branham K, Kwong A, Saksens NTM, Pauper M, Corominas J, Kwicklis M, Zipprer D, Starostik MR, Othman M, Yashar B, Abecasis GR, Chew EY, Ferrington DA, Hoyng CB, Swaroop A, den Hollander AI. Ratnapriya R, et al. Among authors: pauper m. Hum Mol Genet. 2020 Jul 29;29(12):2022-2034. doi: 10.1093/hmg/ddaa057. Hum Mol Genet. 2020. PMID: 32246154 Free PMC article.
The power of genetic diversity in genome-wide association studies of lipids.
Graham SE, Clarke SL, Wu KH, Kanoni S, Zajac GJM, Ramdas S, Surakka I, Ntalla I, Vedantam S, Winkler TW, Locke AE, Marouli E, Hwang MY, Han S, Narita A, Choudhury A, Bentley AR, Ekoru K, Verma A, Trivedi B, Martin HC, Hunt KA, Hui Q, Klarin D, Zhu X, Thorleifsson G, Helgadottir A, Gudbjartsson DF, Holm H, Olafsson I, Akiyama M, Sakaue S, Terao C, Kanai M, Zhou W, Brumpton BM, Rasheed H, Ruotsalainen SE, Havulinna AS, Veturi Y, Feng Q, Rosenthal EA, Lingren T, Pacheco JA, Pendergrass SA, Haessler J, Giulianini F, Bradford Y, Miller JE, Campbell A, Lin K, Millwood IY, Hindy G, Rasheed A, Faul JD, Zhao W, Weir DR, Turman C, Huang H, Graff M, Mahajan A, Brown MR, Zhang W, Yu K, Schmidt EM, Pandit A, Gustafsson S, Yin X, Luan J, Zhao JH, Matsuda F, Jang HM, Yoon K, Medina-Gomez C, Pitsillides A, Hottenga JJ, Willemsen G, Wood AR, Ji Y, Gao Z, Haworth S, Mitchell RE, Chai JF, Aadahl M, Yao J, Manichaikul A, Warren HR, Ramirez J, Bork-Jensen J, Kårhus LL, Goel A, Sabater-Lleal M, Noordam R, Sidore C, Fiorillo E, McDaid AF, Marques-Vidal P, Wielscher M, Trompet S, Sattar N, Møllehave LT, Thuesen BH, Munz M, Zeng L, Huang J, Yang B, Poveda A, Kurbasic A, Lamina C, Forer L, Scholz M, Galesl… See abstract for full author list ➔ Graham SE, et al. Among authors: pauper m. Nature. 2021 Dec;600(7890):675-679. doi: 10.1038/s41586-021-04064-3. Epub 2021 Dec 9. Nature. 2021. PMID: 34887591 Free PMC article.
Whole-Exome Sequencing in Age-Related Macular Degeneration Identifies Rare Variants in COL8A1, a Component of Bruch's Membrane.
Corominas J, Colijn JM, Geerlings MJ, Pauper M, Bakker B, Amin N, Lores Motta L, Kersten E, Garanto A, Verlouw JAM, van Rooij JGJ, Kraaij R, de Jong PTVM, Hofman A, Vingerling JR, Schick T, Fauser S, de Jong EK, van Duijn CM, Hoyng CB, Klaver CCW, den Hollander AI. Corominas J, et al. Among authors: pauper m. Ophthalmology. 2018 Sep;125(9):1433-1443. doi: 10.1016/j.ophtha.2018.03.040. Epub 2018 Apr 26. Ophthalmology. 2018. PMID: 29706360 Free PMC article.
21 results