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Page 1
Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss.
Essers R, Lebedev IN, Kurg A, Fonova EA, Stevens SJC, Koeck RM, von Rango U, Brandts L, Deligiannis SP, Nikitina TV, Sazhenova EA, Tolmacheva EN, Kashevarova AA, Fedotov DA, Demeneva VV, Zhigalina DI, Drozdov GV, Al-Nasiry S, Macville MVE, van den Wijngaard A, Dreesen J, Paulussen A, Hoischen A, Brunner HG, Salumets A, Zamani Esteki M. Essers R, et al. Among authors: stevens sjc. Nat Med. 2023 Dec;29(12):3233-3242. doi: 10.1038/s41591-023-02645-5. Epub 2023 Nov 23. Nat Med. 2023. PMID: 37996709 Free PMC article.
Liquid biopsy: state of reproductive medicine and beyond.
Schobers G, Koeck R, Pellaers D, Stevens SJC, Macville MVE, Paulussen ADC, Coonen E, van den Wijngaard A, de Die-Smulders C, de Wert G, Brunner HG, Zamani Esteki M. Schobers G, et al. Among authors: stevens sjc. Hum Reprod. 2021 Oct 18;36(11):2824-2839. doi: 10.1093/humrep/deab206. Hum Reprod. 2021. PMID: 34562078 Free PMC article. Review.
Embryo tracking system for high-throughput sequencing-based preimplantation genetic testing.
van Dijk W, Derks K, Drüsedau M, Meekels J, Koeck R, Essers R, Dreesen J, Coonen E, de Die-Smulders C, Stevens SJC, Brunner HG, van den Wijngaard A, Paulussen ADC, Zamani Esteki M. van Dijk W, et al. Among authors: stevens sjc. Hum Reprod. 2022 Oct 31;37(11):2700-2708. doi: 10.1093/humrep/deac208. Hum Reprod. 2022. PMID: 36149256 Free PMC article.
Noninvasive Prenatal Test Results Indicative of Maternal Malignancies: A Nationwide Genetic and Clinical Follow-Up Study.
Heesterbeek CJ, Aukema SM, Galjaard RH, Boon EMJ, Srebniak MI, Bouman K, Faas BHW, Govaerts LCP, Hoffer MJV, den Hollander NS, Lichtenbelt KD, van Maarle MC, van Prooyen Schuurman L, van Rij MC, Schuring-Blom GH, Stevens SJC, Tan-Sindhunata G, Zamani Esteki M, de Die-Smulders CEM, Tjan-Heijnen VCG, Henneman L, Sistermans EA, Macville MVE; Dutch NIPT Consortium. Heesterbeek CJ, et al. Among authors: stevens sjc. J Clin Oncol. 2022 Aug 1;40(22):2426-2435. doi: 10.1200/JCO.21.02260. Epub 2022 Apr 8. J Clin Oncol. 2022. PMID: 35394817
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.
Lelieveld SH, Reijnders MR, Pfundt R, Yntema HG, Kamsteeg EJ, de Vries P, de Vries BB, Willemsen MH, Kleefstra T, Löhner K, Vreeburg M, Stevens SJ, van der Burgt I, Bongers EM, Stegmann AP, Rump P, Rinne T, Nelen MR, Veltman JA, Vissers LE, Brunner HG, Gilissen C. Lelieveld SH, et al. Nat Neurosci. 2016 Sep;19(9):1194-6. doi: 10.1038/nn.4352. Epub 2016 Aug 1. Nat Neurosci. 2016. PMID: 27479843 Review.
The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene.
Stevens SJC, Stumpel CTRM, Diderich KEM, van Slegtenhorst MA, Abbott MA, Manning C, Balciuniene J, Pyle LC, Leonard J, Murrell JR, van de Putte R, van Rooij IALM, Hoischen A, Lasko P, Brunner HG. Stevens SJC, et al. Clin Genet. 2022 Feb;101(2):183-189. doi: 10.1111/cge.14076. Epub 2021 Oct 28. Clin Genet. 2022. PMID: 34671974 Free PMC article.
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.
van der Sanden BPGH, Schobers G, Corominas Galbany J, Koolen DA, Sinnema M, van Reeuwijk J, Stumpel CTRM, Kleefstra T, de Vries BBA, Ruiterkamp-Versteeg M, Leijsten N, Kwint M, Derks R, Swinkels H, den Ouden A, Pfundt R, Rinne T, de Leeuw N, Stegmann AP, Stevens SJ, van den Wijngaard A, Brunner HG, Yntema HG, Gilissen C, Nelen MR, Vissers LELM. van der Sanden BPGH, et al. Eur J Hum Genet. 2023 Jan;31(1):81-88. doi: 10.1038/s41431-022-01185-9. Epub 2022 Sep 16. Eur J Hum Genet. 2023. PMID: 36114283 Free PMC article.
Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene.
van der Schoot V, de Munnik S, Venselaar H, Elting M, Mancini GMS, Ravenswaaij-Arts CMA, Anderlid BM, Brunner HG, Stevens SJC. van der Schoot V, et al. Among authors: stevens sjc. Mol Genet Genomic Med. 2018 May;6(3):393-400. doi: 10.1002/mgg3.387. Epub 2018 Mar 24. Mol Genet Genomic Med. 2018. PMID: 29573576 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: stevens sjc. 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.
Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms.
Stevens SJ, van Essen AJ, van Ravenswaaij CM, Elias AF, Haven JA, Lelieveld SH, Pfundt R, Nillesen WM, Yntema HG, van Roozendaal K, Stegmann AP, Gilissen C, Brunner HG. Stevens SJ, et al. Genome Med. 2016 Dec 13;8(1):131. doi: 10.1186/s13073-016-0386-9. Genome Med. 2016. PMID: 27964749 Free PMC article.
58 results