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Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT, Camps C, Giacopuzzi E, Taylor JM, Hashim M, Calpena E, Kaisaki PJ, Hashimoto A, Yu J, Sanders E, Schwessinger R, Hughes JR, Lunter G, Dreau H, Ferla M, Lange L, Kesim Y, Ragoussis V, Vavoulis DV, Allroggen H, Ansorge O, Babbs C, Banka S, Baños-Piñero B, Beeson D, Ben-Ami T, Bennett DL, Bento C, Blair E, Brasch-Andersen C, Bull KR, Cario H, Cilliers D, Conti V, Davies EG, Dhalla F, Dacal BD, Dong Y, Dunford JE, Guerrini R, Harris AL, Hartley J, Hollander G, Javaid K, Kane M, Kelly D, Kelly D, Knight SJL, Kreins AY, Kvikstad EM, Langman CB, Lester T, Lines KE, Lord SR, Lu X, Mansour S, Manzur A, Maroofian R, Marsden B, Mason J, McGowan SJ, Mei D, Mlcochova H, Murakami Y, Németh AH, Okoli S, Ormondroyd E, Ousager LB, Palace J, Patel SY, Pentony MM, Pugh C, Rad A, Ramesh A, Riva SG, Roberts I, Roy N, Salminen O, Schilling KD, Scott C, Sen A, Smith C, Stevenson M, Thakker RV, Twigg SRF, Uhlig HH, van Wijk R, Vona B, Wall S, Wang J, Watkins H, Zak J, Schuh AH, Kini U, Wilkie AOM, Popitsch N, Taylor JC. Pagnamenta AT, et al. Among authors: cario h. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
Effect of the addition of a mental health specialist for evaluation of undiagnosed patients in centres for rare diseases (ZSE-DUO): a prospective, controlled trial with a two-phase cohort design.
Hebestreit H, Lapstich AM, Brandstetter L, Krauth C, Deckert J, Haas K, Pfister L, Witt S, Schippers C, Dieris-Hirche J, Maisch T, Tüscher O, Bârlescu L, Berger A, Berneburg M, Britz V, Deibele A, Graeßner H, Gündel H, Heuft G, Lücke T, Mundlos C, Quitmann J, Rutsch F, Schubert K, Schulz JB, Schweiger S, Zeidler C, Zeltner L, de Zwaan M; ZSE-DUO Working Group. Hebestreit H, et al. EClinicalMedicine. 2023 Oct 6;65:102260. doi: 10.1016/j.eclinm.2023.102260. eCollection 2023 Nov. EClinicalMedicine. 2023. PMID: 37855024 Free PMC article.
Antimicrobial use in pediatric oncology and hematology in Germany and Austria, 2020/2021: a cross-sectional, multi-center point-prevalence study with a multi-step qualitative adjudication process.
Papan C, Reifenrath K, Last K, Attarbaschi A, Graf N, Groll AH, Hübner J, Laws HJ, Lehrnbecher T, Liese JG, Martin L, Tenenbaum T, Vieth S, von Both U, Wagenpfeil G, Weichert S, Hufnagel M, Simon A; AB-PPS PedOnc Study Group. Papan C, et al. Lancet Reg Health Eur. 2023 Mar 1;28:100599. doi: 10.1016/j.lanepe.2023.100599. eCollection 2023 May. Lancet Reg Health Eur. 2023. PMID: 37180743 Free PMC article.
Finding a balance in reduced toxicity hematopoietic stem cell transplantation for thalassemia: role of infused CD3+ cell count and immunosuppression.
Meissner B, Lang P, Bader P, Hoenig M, Müller I, Meisel R, Greil J, Sauer MG, Metzler M, Corbacioglu S, Burkhardt B, Wölfl M, Strahm B, Kafa K, Basu O, Lode HN, Gruhn B, Cario H, Ozga AK, Zimmermann M, Jarisch A, Beier R. Meissner B, et al. Among authors: cario h. Bone Marrow Transplant. 2024 May;59(5):587-596. doi: 10.1038/s41409-024-02219-0. Epub 2024 Feb 7. Bone Marrow Transplant. 2024. PMID: 38326567 Free PMC article.
Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis.
Karaghiannis V, Maric D, Garrec C, Maaziz N, Buffet A, Schmitt L, Antunes V, Airaud F, Aral B, Le Roy A, Corbineau S, Mansour-Hendili L, Lesieur V, Rimbert A, Laporte F, Delamare M, Rab M, Bézieau S, Cassinat B, Galacteros F, Gimenez-Roqueplo AP, Burnichon N, Cario H, Van Wijk R, Bento C, Girodon F, Hoogewijs D, Gardie B. Karaghiannis V, et al. Among authors: cario h. Haematologica. 2023 Jun 1;108(6):1652-1666. doi: 10.3324/haematol.2022.281698. Haematologica. 2023. PMID: 36700397 Free PMC article.
88 results