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Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A, Danyel M, Grundmann K, Brunet T, Klinkhammer H, Hsieh TC, Engels H, Peters S, Knaus A, Moosa S, Averdunk L, Boschann F, Sczakiel HL, Schwartzmann S, Mensah MA, Pantel JT, Holtgrewe M, Bösch A, Weiß C, Weinhold N, Suter AA, Stoltenburg C, Neugebauer J, Kallinich T, Kaindl AM, Holzhauer S, Bührer C, Bufler P, Kornak U, Ott CE, Schülke M, Nguyen HHP, Hoffjan S, Grasemann C, Rothoeft T, Brinkmann F, Matar N, Sivalingam S, Perne C, Mangold E, Kreiss M, Cremer K, Betz RC, Mücke M, Grigull L, Klockgether T, Spier I, Heimbach A, Bender T, Brand F, Stieber C, Morawiec AM, Karakostas P, Schäfer VS, Bernsen S, Weydt P, Castro-Gomez S, Aziz A, Grobe-Einsler M, Kimmich O, Kobeleva X, Önder D, Lesmann H, Kumar S, Tacik P, Basin MA, Incardona P, Lee-Kirsch MA, Berner R, Schuetz C, Körholz J, Kretschmer T, Di Donato N, Schröck E, Heinen A, Reuner U, Hanßke AM, Kaiser FJ, Manka E, Munteanu M, Kuechler A, Cordula K, Hirtz R, Schlapakow E, Schlein C, Lisfeld J, Kubisch C, Herget T, Hempel M, Weiler-Normann C, Ullrich K, Schramm C, Rudolph C, Rillig F, Groffmann M, Muntau A, Tibelius A, Schwaibold EMC, Schaaf CP, Zawada M, Kaufmann L, Hinderhofer K, Okun PM, Kotzaeridou U, Hoffmann … See abstract for full author list ➔ Schmidt A, et al. Among authors: rothoeft t. Nat Genet. 2024 Aug;56(8):1644-1653. doi: 10.1038/s41588-024-01836-1. Epub 2024 Jul 22. Nat Genet. 2024. PMID: 39039281 Free PMC article.
Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study.
Hägele P, Staus P, Scheible R, Uhlmann A, Heeg M, Klemann C, Maccari ME, Ritterbusch H, Armstrong M, Cutcutache I, Elliott KS, von Bernuth H, Leahy TR, Leyh J, Holzinger D, Lehmberg K, Svec P, Masjosthusmann K, Hambleton S, Jakob M, Sparber-Sauer M, Kager L, Puzik A, Wolkewitz M, Lorenz MR, Schwarz K, Speckmann C, Rensing-Ehl A, Ehl S; ALPID study group. Hägele P, et al. Lancet Haematol. 2024 Feb;11(2):e114-e126. doi: 10.1016/S2352-3026(23)00362-9. Lancet Haematol. 2024. PMID: 38302222
Natural and hybrid immunity after SARS-CoV-2 infection in children and adolescents.
Rothoeft T, Maier C, Talarico A, Hoffmann A, Schlegtendal A, Lange B, Petersmann A, Denz R, Timmesfeld N, Toepfner N, Vidal-Blanco E, Pfaender S, Lücke T, Brinkmann F. Rothoeft T, et al. Infection. 2024 Aug;52(4):1449-1458. doi: 10.1007/s15010-024-02225-w. Epub 2024 Mar 18. Infection. 2024. PMID: 38499828 Free PMC article.
Tracheostomy decannulation in children: a proposal for a structured approach on behalf of the working group chronic respiratory insufficiency within the German-speaking society of pediatric pulmonology.
Böschen E, Wendt A, Müller-Stöver S, Piechnik L, Fuchs H, Lund M, Steindor M, Große-Onnebrink J, Keßler C, Grychtol R, Rothoeft T, Bieli C, van Egmond-Fröhlich A, Stehling F; Working Group on Chronic Respiratory Insufficiency in the German speaking society of Pediatric Pulmonology. Böschen E, et al. Among authors: rothoeft t. Eur J Pediatr. 2023 Jul;182(7):2999-3006. doi: 10.1007/s00431-023-04966-6. Epub 2023 May 1. Eur J Pediatr. 2023. PMID: 37121990 Review.
Outbreak of severe community-acquired bacterial infections among children in North Rhine-Westphalia (Germany), October to December 2022.
Goretzki SC, van der Linden M, Itzek A, Hühne T, Adelmann RO, Ala Eldin F, Albarouni M, Becker JC, Berghäuser MA, Boesing T, Boeswald M, Brasche M, Brevis Nuñez F, Camara R, Deibert C, Dohle F, Dolgner J, Dziobaka J, Eifinger F, Elting N, Endmann M, Engelmann G, Frenzke H, Gappa M, Gharavi B, Goletz C, Hahn E, Heidenreich Y, Heimann K, Hensel KO, Hoffmann HG, Hoppenz M, Horneff G, Klassen H, Koerner-Rettberg C, Längler A, Lenz P, Lohmeier K, Müller A, Niemann F, Paulussen M, Pentek F, Perez R, Pingel M, Repges P, Rothoeft T, Rübo J, Schade H, Schmitz R, Schonhoff P, Schwade JN, Schwarz T, Seiffert P, Selzer G, Spille U, Thiel C, Thimm A, Urgatz B, van den Heuvel A, van Hop T, Giesen V, Wirth S, Wollbrink T, Wüller D, Felderhoff-Müser U, Dohna-Schwake C, Lâm TT, Claus H, Bruns N. Goretzki SC, et al. Among authors: rothoeft t. Infection. 2024 Jun;52(3):1099-1111. doi: 10.1007/s15010-023-02165-x. Epub 2024 Feb 16. Infection. 2024. PMID: 38366304 Free PMC article.
33 results