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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: schaaf cp. 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.
Genetic variants in patients with multiple arterial aneurysms.
Körfer D, Grond-Ginsbach C, Peters AS, Burkart S, Hempel M, Schaaf CP, Böckler D, Erhart P. Körfer D, et al. Among authors: schaaf cp. Langenbecks Arch Surg. 2024 Oct 9;409(1):304. doi: 10.1007/s00423-024-03488-5. Langenbecks Arch Surg. 2024. PMID: 39382597 Free PMC article.
The German Network for Personalized Medicine to enhance patient care and translational research.
Illert AL, Stenzinger A, Bitzer M, Horak P, Gaidzik VI, Möller Y, Beha J, Öner Ö, Schmitt F, Laßmann S, Ossowski S, Schaaf CP, Hallek M, Brümmendorf TH, Albers P, Fehm T, Brossart P, Glimm H, Schadendorf D, Bleckmann A, Brandts CH, Esposito I, Mack E, Peters C, Bokemeyer C, Fröhling S, Kindler T, Algül H, Heinemann V, Döhner H, Bargou R, Ellenrieder V, Hillemanns P, Lordick F, Hochhaus A, Beckmann MW, Pukrop T, Trepel M, Sundmacher L, Wesselmann S, Nettekoven G, Kohlhuber F, Heinze O, Budczies J, Werner M, Nikolaou K, Beer AJ, Tabatabai G, Weichert W, Keilholz U, Boerries M, Kohlbacher O, Duyster J, Thimme R, Seufferlein T, Schirmacher P, Malek NP. Illert AL, et al. Among authors: schaaf cp. Nat Med. 2023 Jun;29(6):1298-1301. doi: 10.1038/s41591-023-02354-z. Nat Med. 2023. PMID: 37280276 No abstract available.
Benchmarking whole exome sequencing in the German network for personalized medicine.
Menzel M, Martis-Thiele M, Goldschmid H, Ott A, Romanovsky E, Siemanowski-Hrach J, Seillier L, Brüchle NO, Maurer A, Lehmann KV, Begemann M, Elbracht M, Meyer R, Dintner S, Claus R, Meier-Kolthoff JP, Blanc E, Möbs M, Joosten M, Benary M, Basitta P, Hölscher F, Tischler V, Groß T, Kutz O, Prause R, William D, Horny K, Goering W, Sivalingam S, Borkhardt A, Blank C, Junk SV, Yasin L, Moskalev EA, Carta MG, Ferrazzi F, Tögel L, Wolter S, Adam E, Matysiak U, Rosenthal T, Dönitz J, Lehmann U, Schmidt G, Bartels S, Hofmann W, Hirsch S, Dikow N, Göbel K, Banan R, Hamelmann S, Fink A, Ball M, Neumann O, Rehker J, Kloth M, Murtagh J, Hartmann N, Jurmeister P, Mock A, Kumbrink J, Jung A, Mayr EM, Jacob A, Trautmann M, Kirmse S, Falkenberg K, Ruckert C, Hirsch D, Immel A, Dietmaier W, Haack T, Marienfeld R, Fürstberger A, Niewöhner J, Gerstenmaier U, Eberhardt T, Greif PA, Appenzeller S, Maurus K, Doll J, Jelting Y, Jonigk D, Märkl B, Beule D, Horst D, Wulf AL, Aust D, Werner M, Reuter-Jessen K, Ströbel P, Auber B, Sahm F, Merkelbach-Bruse S, Siebolts U, Roth W, Lassmann S, Klauschen F, Gaisa NT, Weichert W, Evert M, Armeanu-Ebinger S, Ossowski S, Schroeder C, Schaaf CP, Malek N, Schi… See abstract for full author list ➔ Menzel M, et al. Among authors: schaaf cp. Eur J Cancer. 2024 Nov;211:114306. doi: 10.1016/j.ejca.2024.114306. Epub 2024 Sep 8. Eur J Cancer. 2024. PMID: 39293347 Free article.
NCT/DKFZ MASTER handbook of interpreting whole-genome, transcriptome, and methylome data for precision oncology.
Mock A, Teleanu MV, Kreutzfeldt S, Heilig CE, Hüllein J, Möhrmann L, Jahn A, Hanf D, Kerle IA, Singh HM, Hutter B, Uhrig S, Fröhlich M, Neumann O, Hartig A, Brückmann S, Hirsch S, Grund K, Dikow N, Lipka DB, Renner M, Bhatti IA, Apostolidis L, Schlenk RF, Schaaf CP, Stenzinger A, Schröck E, Hübschmann D, Heining C, Horak P, Glimm H, Fröhling S. Mock A, et al. Among authors: schaaf cp. NPJ Precis Oncol. 2023 Oct 26;7(1):109. doi: 10.1038/s41698-023-00458-w. NPJ Precis Oncol. 2023. PMID: 37884744 Free PMC article.
aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment.
Schröter J, Dattner T, Hüllein J, Jayme A, Heuveline V, Hoffmann GF, Kölker S, Lenz D, Opladen T, Popp B, Schaaf CP, Staufner C, Syrbe S, Uhrig S, Hübschmann D, Brennenstuhl H. Schröter J, et al. Among authors: schaaf cp. Comput Struct Biotechnol J. 2023 Jan 25;21:1077-1083. doi: 10.1016/j.csbj.2023.01.027. eCollection 2023. Comput Struct Biotechnol J. 2023. PMID: 36789265 Free PMC article.
COGNITION: a prospective precision oncology trial for patients with early breast cancer at high risk following neoadjuvant chemotherapy.
Pixberg C, Zapatka M, Hlevnjak M, Benedetto S, Suppelna JP, Heil J, Smetanay K, Michel L, Fremd C, Körber V, Rübsam M, Buschhorn L, Heublein S, Schäfgen B, Golatta M, Gomez C, von Au A, Wallwiener M, Wolf S, Dikow N, Schaaf C, Gutjahr E, Allgäuer M, Stenzinger A, Pfütze K, Kirsten R, Hübschmann D, Sinn HP, Jäger D, Trumpp A, Schlenk R, Höfer T, Thewes V, Schneeweiss A, Lichter P. Pixberg C, et al. ESMO Open. 2022 Dec;7(6):100637. doi: 10.1016/j.esmoop.2022.100637. Epub 2022 Nov 21. ESMO Open. 2022. PMID: 36423362 Free PMC article. Clinical Trial.
162 results