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Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study.
van Prooyen Schuurman L, Sistermans EA, Van Opstal D, Henneman L, Bekker MN, Bax CJ, Pieters MJ, Bouman K, de Munnik S, den Hollander NS, Diderich KEM, Faas BHW, Feenstra I, Go ATJI, Hoffer MJV, Joosten M, Komdeur FL, Lichtenbelt KD, Lombardi MP, Polak MG, Jehee FS, Schuring-Blom H, Stevens SJC, Srebniak MI, Suijkerbuijk RF, Tan-Sindhunata GM, van der Meij KRM, van Maarle MC, Vernimmen V, van Zelderen-Bhola SL, van Ravesteyn NT, Knapen MFCM, Macville MVE, Galjaard RH; Dutch NIPT consortium. van Prooyen Schuurman L, et al. Among authors: van maarle mc. Am J Hum Genet. 2022 Jun 2;109(6):1140-1152. doi: 10.1016/j.ajhg.2022.04.018. Am J Hum Genet. 2022. PMID: 35659929 Free PMC article.
Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis.
Vos YJ, de Walle HE, Bos KK, Stegeman JA, Ten Berge AM, Bruining M, van Maarle MC, Elting MW, den Hollander NS, Hamel B, Fortuna AM, Sunde LE, Stolte-Dijkstra I, Schrander-Stumpel CT, Hofstra RM. Vos YJ, et al. Among authors: van maarle mc. J Med Genet. 2010 Mar;47(3):169-75. doi: 10.1136/jmg.2009.071688. Epub 2009 Oct 20. J Med Genet. 2010. PMID: 19846429
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. Among authors: van essen aj, van haeringen a, van maarle mc, van bever y. 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.
Maternal Plasma DNA and RNA Sequencing for Prenatal Testing.
Tamminga S, van Maarle M, Henneman L, Oudejans CB, Cornel MC, Sistermans EA. Tamminga S, et al. Among authors: van maarle m. Adv Clin Chem. 2016;74:63-102. doi: 10.1016/bs.acc.2015.12.004. Epub 2016 Jan 21. Adv Clin Chem. 2016. PMID: 27117661 Review.
Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part II-women's perspectives.
van Schendel RV, Page-Christiaens GC, Beulen L, Bilardo CM, de Boer MA, Coumans AB, Faas BH, van Langen IM, Lichtenbelt KD, van Maarle MC, Macville MV, Oepkes D, Pajkrt E, Henneman L; Dutch NIPT Consortium. van Schendel RV, et al. Among authors: van maarle mc, van langen im. Prenat Diagn. 2016 Dec;36(12):1091-1098. doi: 10.1002/pd.4941. Epub 2016 Nov 16. Prenat Diagn. 2016. PMID: 27739584 Free PMC article.
56 results