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21 results

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Page 1
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.
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.
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.
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.
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.
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.
A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids.
Ramdas S, Judd J, Graham SE, Kanoni S, Wang Y, Surakka I, Wenz B, Clarke SL, Chesi A, Wells A, Bhatti KF, Vedantam S, Winkler TW, Locke AE, Marouli E, Zajac GJM, Wu KH, Ntalla I, Hui Q, Klarin D, Hilliard AT, Wang Z, Xue C, Thorleifsson G, Helgadottir A, Gudbjartsson DF, Holm H, Olafsson I, Hwang MY, Han S, Akiyama M, Sakaue S, Terao C, Kanai M, Zhou W, Brumpton BM, Rasheed H, Havulinna AS, Veturi Y, Pacheco JA, Rosenthal EA, Lingren T, Feng Q, Kullo IJ, Narita A, Takayama J, Martin HC, Hunt KA, Trivedi B, Haessler J, Giulianini F, Bradford Y, Miller JE, Campbell A, Lin K, Millwood IY, Rasheed A, Hindy G, Faul JD, Zhao W, Weir DR, Turman C, Huang H, Graff M, Choudhury A, Sengupta D, 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, Wood AR, Ji Y, Gao Z, Haworth S, Mitchell RE, Chai JF, Aadahl M, Bjerregaard AA, Yao J, Manichaikul A, Lee WJ, Hsiung CA, Warren HR, Ramirez J, Bork-Jensen J, Kårhus LL, Goel A, Sabater-Lleal M, Noordam R, Mauro P, Matteo F, McDaid AF, Marques-Vidal P, Wielscher M, Trompet S, Sattar N, Møllehave LT, Munz M, Zeng L, Huang J, Yang B, Poved… See abstract for full author list ➔ Ramdas S, et al. Among authors: pauper m. Am J Hum Genet. 2022 Aug 4;109(8):1366-1387. doi: 10.1016/j.ajhg.2022.06.012. Am J Hum Genet. 2022. PMID: 35931049 Free PMC article.
21 results