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Guidelines for diagnostic next-generation sequencing.
Matthijs G, Souche E, Alders M, Corveleyn A, Eck S, Feenstra I, Race V, Sistermans E, Sturm M, Weiss M, Yntema H, Bakker E, Scheffer H, Bauer P; EuroGentest; European Society of Human Genetics. Matthijs G, et al. Among authors: weiss m. Eur J Hum Genet. 2016 Jan;24(1):2-5. doi: 10.1038/ejhg.2015.226. Epub 2015 Oct 28. Eur J Hum Genet. 2016. PMID: 26508566 Free PMC article.
Guidelines for diagnostic next-generation sequencing.
Matthijs G, Souche E, Alders M, Corveleyn A, Eck S, Feenstra I, Race V, Sistermans E, Sturm M, Weiss M, Yntema H, Bakker E, Scheffer H, Bauer P. Matthijs G, et al. Among authors: weiss m. Eur J Hum Genet. 2016 Oct;24(10):1515. doi: 10.1038/ejhg.2016.63. Eur J Hum Genet. 2016. PMID: 27628564 Free PMC article. No abstract available.
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: weiss m. Genome Med. 2024 Feb 14;16(1):32. doi: 10.1186/s13073-024-01301-y. Genome Med. 2024. PMID: 38355605 Free PMC article.
FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research.
van der Velde KJ, Singh G, Kaliyaperumal R, Liao X, de Ridder S, Rebers S, Kerstens HHD, de Andrade F, van Reeuwijk J, De Gruyter FE, Hiltemann S, Ligtvoet M, Weiss MM, van Deutekom HWM, Jansen AML, Stubbs AP, Vissers LELM, Laros JFJ, van Enckevort E, Stemkens D, 't Hoen PAC, Beliën JAM, van Gijn ME, Swertz MA. van der Velde KJ, et al. Among authors: weiss mm. Sci Data. 2022 Apr 13;9(1):169. doi: 10.1038/s41597-022-01265-x. Sci Data. 2022. PMID: 35418585 Free PMC article.
Fetal fraction of cell-free DNA in noninvasive prenatal testing and adverse pregnancy outcomes: a nationwide retrospective cohort study of 56,110 pregnant women.
Becking EC, Scheffer PG, Henrichs J, Bax CJ, Crombag NMTH, Weiss MM, Macville MVE, Van Opstal D, Boon EMJ, Sistermans EA, Henneman L, Schuit E, Bekker MN. Becking EC, et al. Among authors: weiss mm. Am J Obstet Gynecol. 2023 Dec 12:S0002-9378(23)02128-2. doi: 10.1016/j.ajog.2023.12.008. Online ahead of print. Am J Obstet Gynecol. 2023. PMID: 38097030 Free article.
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.
Steyaert W, Sagath L, Demidov G, Yépez VA, Esteve-Codina A, Gagneur J, Ellwanger K, Derks R, Weiss M, den Ouden A, van den Heuvel S, Swinkels H, Zomer N, Steehouwer M, O'Gorman L, Astuti G, Neveling K, Schüle R, Xu J, Synofzik M, Beijer D, Hengel H, Schöls L, Claeys KG, Baets J, Van de Vondel L, Ferlini A, Selvatici R, Morsy H, Saeed Abd Elmaksoud M, Straub V, Müller J, Pini V, Perry L, Sarkozy A, Zaharieva I, Muntoni F, Bugiardini E, Polavarapu K, Horvath R, Reid E, Lochmüller H, Spinazzi M, Savarese M; Solve-RD DITF-ITHACA; Solve-RD DITF-Euro-NMD; Solve-RD DITF-RND; Solve-RD DITF-EpiCARE; Matalonga L, Laurie S, Brunner HG, Graessner H, Beltran S, Ossowski S, Vissers LELM, Gilissen C, Hoischen A. Steyaert W, et al. Among authors: weiss m. medRxiv [Preprint]. 2024 May 4:2024.05.03.24305331. doi: 10.1101/2024.05.03.24305331. medRxiv. 2024. PMID: 38746462 Free PMC article. Preprint.
The Effect of Everyday-Life Social Contact on Pain.
Weiß M, Gründahl M, Jachnik A, Lampe EC, Malik I, Rittner HL, Sommer C, Hein G. Weiß M, et al. J Med Internet Res. 2024 Apr 30;26:e53830. doi: 10.2196/53830. J Med Internet Res. 2024. PMID: 38687594 Free PMC article. Review.
5,849 results