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Page 1
Genome sequencing as a generic diagnostic strategy for rare disease.
Schobers G, Derks R, den Ouden A, Swinkels H, van Reeuwijk J, Bosgoed E, Lugtenberg D, Sun SM, Corominas Galbany J, Weiss M, Blok MJ, Olde Keizer RACM, Hofste T, Hellebrekers D, de Leeuw N, Stegmann A, Kamsteeg EJ, Paulussen ADC, Ligtenberg MJL, Bradley XZ, Peden J, Gutierrez A, Pullen A, Payne T, Gilissen C, van den Wijngaard A, Brunner HG, Nelen M, Yntema HG, Vissers LELM. Schobers G, et al. Among authors: paulussen adc. Genome Med. 2024 Feb 14;16(1):32. doi: 10.1186/s13073-024-01301-y. Genome Med. 2024. PMID: 38355605 Free PMC article.
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. 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.
Preconception carrier screening in couples seeking IVF: exploring the patient perspective.
Frank C, Laeven CHC, Meulenbroeks D, Coonen E, de Die-Smulders CEM, van Golde RJT, Mallens LM, Paulussen ADC, Schuurmans J, van Osch LADM. Frank C, et al. Among authors: paulussen adc. Reprod Biomed Online. 2024 Sep 21;50(1):104452. doi: 10.1016/j.rbmo.2024.104452. Online ahead of print. Reprod Biomed Online. 2024. PMID: 39647447 Free 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: paulussen adc. Nat Commun. 2024 Sep 2;15(1):7164. doi: 10.1038/s41467-024-51508-1. Nat Commun. 2024. PMID: 39223156 Free PMC article.
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: paulussen adc. 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.
Detection of PTCH1 Copy-Number Variants in Mosaic Basal Cell Nevus Syndrome.
Roemen GMJM, Theunissen TEJ, Hoezen WWJ, Steyls ARM, Paulussen ADC, Mosterd K, Rahikkala E, Zur Hausen A, Speel EJM, van Geel M. Roemen GMJM, et al. Among authors: paulussen adc. Biomedicines. 2024 Jan 31;12(2):330. doi: 10.3390/biomedicines12020330. Biomedicines. 2024. PMID: 38397932 Free PMC 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: paulussen adc. 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.
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: paulussen adc. Hum Reprod. 2022 Oct 31;37(11):2700-2708. doi: 10.1093/humrep/deac208. Hum Reprod. 2022. PMID: 36149256 Free PMC article.
61 results