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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 GF, Cho… See abstract for full author list ➔ Schmidt A, et al. Among authors: zeltner l. 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.
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. Among authors: zeltner l. EClinicalMedicine. 2023 Oct 6;65:102260. doi: 10.1016/j.eclinm.2023.102260. eCollection 2023 Nov. EClinicalMedicine. 2023. PMID: 37855024 Free PMC article.
The interplay between climatic niche evolution, polyploidy and reproductive traits explains plant speciation in the Mediterranean Basin: a case study in Centaurium (Gentianaceae).
Valdés-Florido A, Valcárcel V, Maguilla E, Díaz-Lifante Z, Andrés-Camacho C, Zeltner L, Coca-de-la-Iglesia M, Medina NG, Arroyo J, Escudero M. Valdés-Florido A, et al. Among authors: zeltner l. Front Plant Sci. 2024 Aug 9;15:1439985. doi: 10.3389/fpls.2024.1439985. eCollection 2024. Front Plant Sci. 2024. PMID: 39184574 Free PMC article.
Telephone Assessment of Suicidal Risk at Prehospital Emergency Medical Services: A Direct Comparison with Face-to-Face Evaluation at Psychiatric Emergency Service.
Norotte C, Zeltner L, Gross J, Delord M, Richard C, Bembaron MC, Caussanel JM, Herbillon A, Rousseau C, Chiquet C, Ehly C, Pain A, Vadillo F, Morisset L, Roux P, Passerieux C, Lambert Y, Koukabi-Fradelizi M, Younes N, Richard O. Norotte C, et al. Among authors: zeltner l. Arch Suicide Res. 2024 Jul-Sep;28(3):979-993. doi: 10.1080/13811118.2023.2265432. Epub 2023 Oct 9. Arch Suicide Res. 2024. PMID: 37812246
Dual guidance structure for evaluation of patients with unclear diagnosis in centers for rare diseases (ZSE-DUO): study protocol for a controlled multi-center cohort study.
Hebestreit H, Zeidler C, Schippers C, de Zwaan M, Deckert J, Heuschmann P, Krauth C, Bullinger M, Berger A, Berneburg M, Brandstetter L, Deibele A, Dieris-Hirche J, Graessner H, Gündel H, Herpertz S, Heuft G, Lapstich AM, Lücke T, Maisch T, Mundlos C, Petermann-Meyer A, Müller S, Ott S, Pfister L, Quitmann J, Romanos M, Rutsch F, Schaubert K, Schubert K, Schulz JB, Schweiger S, Tüscher O, Ungethüm K, Wagner TOF, Haas K; ZSE-DUO working group. Hebestreit H, et al. Orphanet J Rare Dis. 2022 Feb 14;17(1):47. doi: 10.1186/s13023-022-02176-1. Orphanet J Rare Dis. 2022. PMID: 35164804 Free PMC article.
Cerebrospinal fluid findings in patients with psychotic symptoms-a retrospective analysis.
Rattay TW, Martin P, Vittore D, Hengel H, Cebi I, Tünnerhoff J, Stefanou MI, Hoffmann JF, von der Ehe K, Klaus J, Vonderschmitt J, Herrmann ML, Bombach P, Al Barazi H, Zeltner L, Richter J, Hesse K, Eckstein KN, Klingberg S, Wildgruber D. Rattay TW, et al. Among authors: zeltner l. Sci Rep. 2021 Mar 30;11(1):7169. doi: 10.1038/s41598-021-86170-w. Sci Rep. 2021. PMID: 33785807 Free PMC article.
33 results