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Page 1
Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded Material.
de Leng WW, Gadellaa-van Hooijdonk CG, Barendregt-Smouter FA, Koudijs MJ, Nijman I, Hinrichs JW, Cuppen E, van Lieshout S, Loberg RD, de Jonge M, Voest EE, de Weger RA, Steeghs N, Langenberg MH, Sleijfer S, Willems SM, Lolkema MP. de Leng WW, et al. Among authors: nijman i. PLoS One. 2016 Feb 26;11(2):e0149405. doi: 10.1371/journal.pone.0149405. eCollection 2016. PLoS One. 2016. PMID: 26919633 Free PMC article.
X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.
Harakalova M, van den Boogaard MJ, Sinke R, van Lieshout S, van Tuil MC, Duran K, Renkens I, Terhal PA, de Kovel C, Nijman IJ, van Haelst M, Knoers NV, van Haaften G, Kloosterman W, Hennekam RC, Cuppen E, Ploos van Amstel HK. Harakalova M, et al. Among authors: nijman ij. J Med Genet. 2012 Aug;49(8):539-43. doi: 10.1136/jmedgenet-2012-100921. J Med Genet. 2012. PMID: 22889856
Joubert syndrome: genotyping a Northern European patient cohort.
Kroes HY, Monroe GR, van der Zwaag B, Duran KJ, de Kovel CG, van Roosmalen MJ, Harakalova M, Nijman IJ, Kloosterman WP, Giles RH, Knoers NV, van Haaften G. Kroes HY, et al. Eur J Hum Genet. 2016 Feb;24(2):214-20. doi: 10.1038/ejhg.2015.84. Epub 2015 Apr 29. Eur J Hum Genet. 2016. PMID: 25920555 Free PMC article.
Multiplex spatial omics reveals changes in immune-epithelial crosstalk during inflammation and dysplasia development in chronic IBD patients.
Baars MJD, Floor E, Sinha N, Ter Linde JJM, van Dam S, Amini M, Nijman IJ, Ten Hove JR, Drylewicz J, Offerhaus GJA, Laclé MM, Oldenburg B, Vercoulen Y. Baars MJD, et al. Among authors: nijman ij. iScience. 2024 Jul 20;27(8):110550. doi: 10.1016/j.isci.2024.110550. eCollection 2024 Aug 16. iScience. 2024. PMID: 39165839 Free PMC article.
Course of objectively measured physical activity and sleep in postmenopausal breast cancer survivors during the COVID-19 pandemic: A 1-year follow-up.
van Cappellen-van Maldegem SJM, Hoedjes M, de Boer MR, Nijman IL, van Valenberg HMW, Seidell JC, van de Poll-Franse LV, Buffart LM, Mols F, de Rooij BH. van Cappellen-van Maldegem SJM, et al. Among authors: nijman il. Breast Dis. 2023;42(1):415-427. doi: 10.3233/BD-230049. Breast Dis. 2023. PMID: 38143333 Free PMC article.
Pseudobudding: ruptured glands do not represent true tumor buds.
Haddad TS, van den Dobbelsteen L, Öztürk SK, Geene R, Nijman IJ, Verrijp K, Jamieson NB, Wood C, van Vliet S, Reuvers L, Achouiti S, Rutgers N, Brouwer N, Simmer F, Zlobec I, Lugli A, Nagtegaal ID. Haddad TS, et al. Among authors: nijman ij. J Pathol. 2023 Sep;261(1):19-27. doi: 10.1002/path.6146. Epub 2023 Jul 4. J Pathol. 2023. PMID: 37403270 Free article.
Geographical contrasts of Y-chromosomal haplogroups from wild and domestic goats reveal ancient migrations and recent introgressions.
VarGoats Consortium; Nijman IJ, Rosen BD, Bardou P, Faraut T, Cumer T, Daly KG, Zheng Z, Cai Y, Asadollahpour H, Kul BÇ, Zhang WY, E G, Ayin A, Baird H, Bakhtin M, Bâlteanu VA, Barfield D, Berger B, Blichfeldt T, Boink G, Bugiwati SRA, Cai Z, Carolan S, Clark E, Cubric-Curik V, Dagong MIA, Dorji T, Drew L, Guo J, Hallsson J, Horvat S, Kantanen J, Kawaguchi F, Kazymbet P, Khayatzadeh N, Kim N, Shah MK, Liao Y, Martínez A, Masangkay JS, Masaoka M, Mazza R, McEwan J, Milanesi M, Omar FM, Nomura Y, Ouchene-Khelifi NA, Pereira F, Sahana G, Salavati M, Sasazaki S, Da Silva A, Simčič M, Sölkner J, Sutherland A, Tigchelaar J, Zhang H; Econogene Consortium; Ajmone-Marsan P, Bradley DG, Colli L, Drögemüller C, Jiang Y, Lei C, Mannen H, Pompanon F, Tosser-Klopp G, Lenstra JA. VarGoats Consortium, et al. Among authors: nijman ij. Mol Ecol. 2022 Aug;31(16):4364-4380. doi: 10.1111/mec.16579. Epub 2022 Jul 12. Mol Ecol. 2022. PMID: 35751552 Free article.
The role of rare compound heterozygous events in autism spectrum disorder.
Lin BD, Colas F, Nijman IJ, Medic J, Brands W, Parr JR, van Eijk KR, Klauck SM, Chiocchetti AG, Freitag CM, Maestrini E, Bacchelli E, Coon H, Vicente A, Oliveira G, Pagnamenta AT, Gallagher L, Ennis S, Anney R, Bourgeron T, Luykx JJ, Vorstman J. Lin BD, et al. Among authors: nijman ij. Transl Psychiatry. 2020 Jun 22;10(1):204. doi: 10.1038/s41398-020-00866-7. Transl Psychiatry. 2020. PMID: 32572023 Free PMC article.
114 results