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Year Number of Results
2002 3
2004 1
2011 1
2012 1
2013 2
2014 3
2015 4
2016 7
2017 3
2018 3
2019 6
2020 3
2021 5
2022 5
2023 8
2024 3

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47 results

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Page 1
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: joosten m. 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.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, Wang T, Kurtz-Nelson EC, Ahlers KP, Arts P, Barnett CP, Ashfaq M, Baban A, van den Born M, Borrie S, Busa T, Byrne A, Carriero M, Cesario C, Chong K, Cueto-González AM, Dempsey JC, Diderich KEM, Doherty D, Farholt S, Gerkes EH, Gorokhova S, Govaerts LCP, Gregersen PA, Hickey SE, Lefebvre M, Mari F, Martinovic J, Northrup H, O'Leary M, Parbhoo K, Patrier S, Popp B, Santos-Simarro F, Stoltenburg C, Thauvin-Robinet C, Thompson E, Vulto-van Silfhout AT, Zahir FR, Scott HS, Earl RK, Eichler EE, Vora NL, Wilnai Y, Giordano JL, Wapner RJ, Rosenfeld JA, Haak MC, Santen GWE. van der Sluijs PJ, et al. Among authors: joosten m. Genet Med. 2022 Aug;24(8):1753-1760. doi: 10.1016/j.gim.2022.04.010. Epub 2022 May 18. Genet Med. 2022. PMID: 35579625 Free PMC article.
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: joosten m. Am J Hum Genet. 2022 Jul 7;109(7):1344. doi: 10.1016/j.ajhg.2022.06.003. Am J Hum Genet. 2022. PMID: 35803237 Free PMC article. No abstract available.
Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs.
Klämbt V, Buerger F, Wang C, Naert T, Richter K, Nauth T, Weiss AC, Sieckmann T, Lai E, Connaughton DM, Seltzsam S, Mann N, Majmundar AJ, Wu CW, Onuchic-Whitford AC, Shril S, Schneider S, Schierbaum L, Dai R, Bekheirnia MR, Joosten M, Shlomovitz O, Vivante A, Banne E, Mane S, Lifton RP, Kirschner KM, Kispert A, Rosenberger G, Fischer KD, Lienkamp SS, Zegers MMP, Hildebrandt F. Klämbt V, et al. Among authors: joosten m. J Am Soc Nephrol. 2023 Feb 1;34(2):273-290. doi: 10.1681/ASN.2022010050. Epub 2023 Nov 22. J Am Soc Nephrol. 2023. PMID: 36414417 Free PMC article.
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.
Dekker J, Schot R, Bongaerts M, de Valk WG, van Veghel-Plandsoen MM, Monfils K, Douben H, Elfferich P, Kasteleijn E, van Unen LMA, Geeven G, Saris JJ, van Ierland Y, Verheijen FW, van der Sterre MLT, Sadeghi Niaraki F, Smits DJ, Huidekoper HH, Williams M, Wilke M, Verhoeven VJM, Joosten M, Kievit AJA, van de Laar IMBH, Hoefsloot LH, Hoogeveen-Westerveld M, Nellist M, Mancini GMS, van Ham TJ. Dekker J, et al. Among authors: joosten m. Am J Hum Genet. 2023 Feb 2;110(2):251-272. doi: 10.1016/j.ajhg.2022.12.015. Epub 2023 Jan 19. Am J Hum Genet. 2023. PMID: 36669495 Free PMC article.
False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review.
Van Opstal D, Srebniak MI, Polak J, de Vries F, Govaerts LC, Joosten M, Go AT, Knapen MF, van den Berg C, Diderich KE, Galjaard RJ. Van Opstal D, et al. Among authors: joosten m. PLoS One. 2016 Jan 15;11(1):e0146794. doi: 10.1371/journal.pone.0146794. eCollection 2016. PLoS One. 2016. PMID: 26771677 Free PMC article. Review.
Non-invasive prenatal diagnosis for translocation carriers-YES please or NO go?
Srebniak MI, Jehee FS, Joosten M, Boter M, de Valk WG, van der Helm R, Sistermans EA, Voorhoeve E, Bhola S, Hoffer MJV, den Hollander N, Macville MVE, Van Opstal D. Srebniak MI, et al. Among authors: joosten m. Acta Obstet Gynecol Scand. 2021 Nov;100(11):2036-2043. doi: 10.1111/aogs.14256. Epub 2021 Sep 1. Acta Obstet Gynecol Scand. 2021. PMID: 34472080 Free article.
47 results