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KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia.
Pennings M, Schouten MI, van Gaalen J, Meijer RPP, de Bot ST, Kriek M, Saris CGJ, van den Berg LH, van Es MA, Zuidgeest DMH, Elting MW, van de Kamp JM, van Spaendonck-Zwarts KY, Die-Smulders C, Brilstra EH, Verschuuren CC, de Vries BBA, Bruijn J, Sofou K, Duijkers FA, Jaeger B, Schieving JH, van de Warrenburg BP, Kamsteeg EJ. Pennings M, et al. Eur J Hum Genet. 2020 Jan;28(1):40-49. doi: 10.1038/s41431-019-0497-z. Epub 2019 Sep 5. Eur J Hum Genet. 2020. PMID: 31488895 Free PMC article.
Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.
Janssen AEJ, Koeck RM, Essers R, Cao P, van Dijk W, Drüsedau M, Meekels J, Yaldiz B, van de Vorst M, de Koning B, Hellebrekers DMEI, Stevens SJC, Sun SM, Heijligers M, de Munnik SA, van Uum CMJ, Achten J, Hamers L, Naghdi M, Vissers LELM, van Golde RJT, de Wert G, Dreesen JCFM, de Die-Smulders C, Coonen E, Brunner HG, van den Wijngaard A, Paulussen ADC, Zamani Esteki M. Janssen AEJ, et al. Among authors: de die smulders c. Nat Commun. 2024 Sep 2;15(1):7164. doi: 10.1038/s41467-024-51508-1. Nat Commun. 2024. PMID: 39223156 Free PMC article.
Prenatal cell-free DNA testing of women with pregnancy-associated cancer: a retrospective cross-sectional study.
Heesterbeek CJ, Tjan-Heijnen VCG, Heimovaara JH, Lenaerts L, Lok C, Vriens IJH, Van Opstal D, Boon EMJ, Sie D, de Die-Smulders CEM, Amant F, Macville MVE; Dutch NIPT Consortium. Heesterbeek CJ, et al. Among authors: de die smulders cem. Lancet Reg Health Eur. 2024 Aug 7;45:101024. doi: 10.1016/j.lanepe.2024.101024. eCollection 2024 Oct. Lancet Reg Health Eur. 2024. PMID: 39220433 Free PMC article.
Comprehensive Recommendations for the Clinical Management of Pregnant Women With Noninvasive Prenatal Test Results Suspicious of a Maternal Malignancy.
Heesterbeek CJ, Lenaerts L, Tjan-Heijnen VCG, Amant F, van Rij MC, Theunis M, de Die-Smulders CEM, Vermeesch JR, Macville MVE; Dutch NIPT Consortium. Heesterbeek CJ, et al. Among authors: de die smulders cem. JCO Oncol Pract. 2024 Aug;20(8):1027-1034. doi: 10.1200/OP.23.00594. Epub 2024 Apr 12. JCO Oncol Pract. 2024. PMID: 38608208
Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases.
Verdonschot JAJ, Hellebrekers DMEI, van Empel VPM, Heijligers M, de Munnik S, Coonen E, Dreesen JCMF, van den Wijngaard A, Brunner HG, Zamani Esteki M, Heymans SRB, de Die-Smulders CEM, Paulussen ADC. Verdonschot JAJ, et al. Among authors: de die smulders cem. Circ Genom Precis Med. 2024 Apr;17(2):e004416. doi: 10.1161/CIRCGEN.123.004416. Epub 2024 Mar 22. Circ Genom Precis Med. 2024. PMID: 38516780 Free PMC article.
Considerations of breast cancer survivors to return for embryo transfer after fertility preservation: A qualitative study.
Ter Welle-Butalid ME, van Osch L, van Bree BE, Vriens IJH, Derhaag JG, de Die-Smulders CEM, Tjan-Heijnen VCG, van Golde RJT. Ter Welle-Butalid ME, et al. Among authors: de die smulders cem. Eur J Obstet Gynecol Reprod Biol. 2024 Feb;293:27-31. doi: 10.1016/j.ejogrb.2023.12.009. Epub 2023 Dec 9. Eur J Obstet Gynecol Reprod Biol. 2024. PMID: 38100938 Free article.
Preimplantation genetic testing for Neurofibromatosis type 1: more than 20 years of clinical experience.
Vernimmen V, Paulussen ADC, Dreesen JCFM, van Golde RJ, Zamani Esteki M, Coonen E, van Buul-van Zwet ML, Homminga I, Derijck AAHA, Brandts L, Stumpel CTRM, de Die-Smulders CEM. Vernimmen V, et al. Among authors: de die smulders cem. Eur J Hum Genet. 2023 Aug;31(8):918-924. doi: 10.1038/s41431-023-01404-x. Epub 2023 Jun 19. Eur J Hum Genet. 2023. PMID: 37337089 Free PMC article.
207 results