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Page 1
The Dynamics of Somatic Mutagenesis During Life in Humans.
Manders F, van Boxtel R, Middelkamp S. Manders F, et al. Among authors: middelkamp s. Front Aging. 2021 Dec 17;2:802407. doi: 10.3389/fragi.2021.802407. eCollection 2021. Front Aging. 2021. PMID: 35822044 Free PMC article. Review.
Comprehensive single-cell genome analysis at nucleotide resolution using the PTA Analysis Toolbox.
Middelkamp S, Manders F, Peci F, van Roosmalen MJ, González DM, Bertrums EJM, van der Werf I, Derks LLM, Groenen NM, Verheul M, Trabut L, Pleguezuelos-Manzano C, Brandsma AM, Antoniou E, Reinhardt D, Bierings M, Belderbos ME, van Boxtel R. Middelkamp S, et al. Cell Genom. 2023 Aug 23;3(9):100389. doi: 10.1016/j.xgen.2023.100389. eCollection 2023 Sep 13. Cell Genom. 2023. PMID: 37719152 Free PMC article.
Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia.
Terhal PA, Vlaar JM, Middelkamp S, Nievelstein RAJ, Nikkels PGJ, Ross J, Créton M, Bos JW, Voskuil-Kerkhof ESM, Cuppen E, Knoers N, van Gassen KLI. Terhal PA, et al. Among authors: middelkamp s. Eur J Hum Genet. 2020 Jan;28(1):31-39. doi: 10.1038/s41431-019-0427-0. Epub 2019 May 14. Eur J Hum Genet. 2020. PMID: 31089205 Free PMC article.
Mapping and phasing of structural variation in patient genomes using nanopore sequencing.
Cretu Stancu M, van Roosmalen MJ, Renkens I, Nieboer MM, Middelkamp S, de Ligt J, Pregno G, Giachino D, Mandrile G, Espejo Valle-Inclan J, Korzelius J, de Bruijn E, Cuppen E, Talkowski ME, Marschall T, de Ridder J, Kloosterman WP. Cretu Stancu M, et al. Among authors: middelkamp s. Nat Commun. 2017 Nov 6;8(1):1326. doi: 10.1038/s41467-017-01343-4. Nat Commun. 2017. PMID: 29109544 Free PMC article.
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Blumenthal I, Bongers EM, Brilstra EH, Brown CW, Brüggenwirth HT, Callewaert B, Chiang C, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D'Hooghe M, de Vries BB, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hill R, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Jacobsen JC, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CJ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint AW, Ordulu Z, Parkash S, Pauker SP, … See abstract for full author list ➔ Redin C, et al. Among authors: middelkamp s. Nat Genet. 2017 Jan;49(1):36-45. doi: 10.1038/ng.3720. Epub 2016 Nov 14. Nat Genet. 2017. PMID: 27841880 Free PMC article.
Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells.
Middelkamp S, van Heesch S, Braat AK, de Ligt J, van Iterson M, Simonis M, van Roosmalen MJ, Kelder MJ, Kruisselbrink E, Hochstenbach R, Verbeek NE, Ippel EF, Adolfs Y, Pasterkamp RJ, Kloosterman WP, Kuijk EW, Cuppen E. Middelkamp S, et al. Genome Med. 2017 Jan 26;9(1):9. doi: 10.1186/s13073-017-0399-z. Genome Med. 2017. PMID: 28126037 Free PMC article.