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Page 1
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: swinkels h. medRxiv [Preprint]. 2024 May 4:2024.05.03.24305331. doi: 10.1101/2024.05.03.24305331. medRxiv. 2024. PMID: 38746462 Free PMC article. Preprint.
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: swinkels h. Genome Med. 2024 Feb 14;16(1):32. doi: 10.1186/s13073-024-01301-y. Genome Med. 2024. PMID: 38355605 Free PMC article.
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.
Wijngaard R, Demidov G, O'Gorman L, Corominas-Galbany J, Yaldiz B, Steyaert W, de Boer E, Vissers LELM, Kamsteeg EJ, Pfundt R, Swinkels H, den Ouden A, Te Paske IBAW, de Voer RM, Faivre L, Denommé-Pichon AS, Duffourd Y, Vitobello A, Chevarin M, Straub V, Töpf A, van der Kooi AJ, Magrinelli F, Rocca C, Hanna MG, Vandrovcova J; Solve-RD consortium; Ossowski S, Laurie S, Gilissen C. Wijngaard R, et al. Among authors: swinkels h. Eur J Hum Genet. 2024 Feb;32(2):200-208. doi: 10.1038/s41431-023-01478-7. Epub 2023 Oct 19. Eur J Hum Genet. 2024. PMID: 37853102 Free PMC article.
Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.
Wijngaard R, Demidov G, O'Gorman L, Corominas-Galbany J, Yaldiz B, Steyaert W, de Boer E, Vissers LELM, Kamsteeg EJ, Pfundt R, Swinkels H, den Ouden A, Te Paske IBAW, de Voer RM, Faivre L, Denommé-Pichon AS, Duffourd Y, Vitobello A, Chevarin M, Straub V, Töpf A, van der Kooi AJ, Magrinelli F, Rocca C, Hanna MG, Vandrovcova J; Solve-RD consortium; Ossowski S, Laurie S, Gilissen C. Wijngaard R, et al. Among authors: swinkels h. Eur J Hum Genet. 2024 Feb;32(2):248. doi: 10.1038/s41431-023-01492-9. Eur J Hum Genet. 2024. PMID: 37973950 Free PMC article. No abstract available.
Poliomyelitis.
Wolbert JG, Rajnik M, Swinkels HM, Higginbotham K. Wolbert JG, et al. Among authors: swinkels hm. 2024 Oct 6. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2024 Oct 6. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 32644370 Free Books & Documents.
HIV and AIDS (Nursing).
Swinkels HM, Justiz Vaillant AA, Nguyen AD, Gulick PG, Pinto KM. Swinkels HM, et al. 2024 Jul 27. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2024 Jul 27. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 33760438 Free Books & Documents.
HIV and AIDS.
Swinkels HM, Justiz Vaillant AA, Nguyen AD, Gulick PG. Swinkels HM, et al. 2024 Jul 27. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2024 Jul 27. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 30521281 Free Books & Documents.
Ebola Virus Disease.
Hollingshead CM, Swinkels HM, Shah SU. Hollingshead CM, et al. Among authors: swinkels hm. 2024 Mar 1. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2024 Mar 1. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 32809414 Free Books & Documents.
Preexposure Prophylaxis for HIV Prevention.
Sundareshan V, Swinkels HM, Nguyen AD, Mangat R, Koirala J. Sundareshan V, et al. Among authors: swinkels hm. 2024 Jan 28. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2024 Jan 28. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 29939566 Free Books & Documents.
Biological Weapon Toxicity.
Hayoun MA, Chen RJ, Swinkels HM, King KC. Hayoun MA, et al. Among authors: swinkels hm. 2024 Jan 1. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2024 Jan 1. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 28722971 Free Books & Documents.
34 results