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Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.
van der Schoot V, Haer-Wigman L, Feenstra I, Tammer F, Oerlemans AJM, van Koolwijk MPA, van Agt F, Arens YHJM, Brunner HG, Vissers LELM, Yntema HG. van der Schoot V, et al. Among authors: arens yhjm. Eur J Hum Genet. 2022 Feb;30(2):170-177. doi: 10.1038/s41431-021-00964-0. Epub 2021 Oct 25. Eur J Hum Genet. 2022. PMID: 34697415 Free PMC article.
Perinatal follow-up of children born after preimplantation genetic diagnosis between 1995 and 2014.
Heijligers M, van Montfoort A, Meijer-Hoogeveen M, Broekmans F, Bouman K, Homminga I, Dreesen J, Paulussen A, Engelen J, Coonen E, van der Schoot V, van Deursen-Luijten M, Muntjewerff N, Peeters A, van Golde R, van der Hoeven M, Arens Y, de Die-Smulders C. Heijligers M, et al. J Assist Reprod Genet. 2018 Nov;35(11):1995-2002. doi: 10.1007/s10815-018-1286-2. Epub 2018 Sep 5. J Assist Reprod Genet. 2018. PMID: 30187425 Free PMC article.
The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.
Paulussen AD, Schrander-Stumpel CT, Tserpelis DC, Spee MK, Stegmann AP, Mancini GM, Brooks AS, Collée M, Maat-Kievit A, Simon ME, van Bever Y, Stolte-Dijkstra I, Kerstjens-Frederikse WS, Herkert JC, van Essen AJ, Lichtenbelt KD, van Haeringen A, Kwee ML, Lachmeijer AM, Tan-Sindhunata GM, van Maarle MC, Arens YH, Smeets EE, de Die-Smulders CE, Engelen JJ, Smeets HJ, Herbergs J. Paulussen AD, et al. Eur J Hum Genet. 2010 Sep;18(9):999-1005. doi: 10.1038/ejhg.2010.70. Epub 2010 Jun 9. Eur J Hum Genet. 2010. PMID: 20531442 Free PMC article.
Subtelomeric chromosome aberrations: still a lot to learn.
Moog U, Arens YH, van Lent-Albrechts JC, Huijts PE, Smeets EE, Schrander-Stumpel CT, Engelen JJ. Moog U, et al. Clin Genet. 2005 Nov;68(5):397-407. doi: 10.1111/j.1399-0004.2005.00506.x. Clin Genet. 2005. PMID: 16207207
Manifest disease, risk factors for sudden cardiac death, and cardiac events in a large nationwide cohort of predictively tested hypertrophic cardiomyopathy mutation carriers: determining the best cardiological screening strategy.
Christiaans I, Birnie E, Bonsel GJ, Mannens MM, Michels M, Majoor-Krakauer D, Dooijes D, van Tintelen JP, van den Berg MP, Volders PG, Arens YH, van den Wijngaard A, Atsma DE, Helderman-van den Enden AT, Houweling AC, de Boer K, van der Smagt JJ, Hauer RN, Marcelis CL, Timmermans J, van Langen IM, Wilde AA. Christiaans I, et al. Eur Heart J. 2011 May;32(9):1161-70. doi: 10.1093/eurheartj/ehr092. Epub 2011 Apr 1. Eur Heart J. 2011. PMID: 21459882
Trisomy 7p: report of 2 patients and literature review.
Arens YH, Toutain A, Engelen JJ, Offermans JP, Hamers AJ, Schrander JJ, Pulles-Heintzberger CF, Schrander-Stumpel CT. Arens YH, et al. Genet Couns. 2000;11(4):347-54. Genet Couns. 2000. PMID: 11140412 Review.
23 results