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Page 1
Holistic Exome-Based Genetic Testing in Adults With Epilepsy.
Krenn M, Wagner M, Trimmel K, Bonelli S, Rath J, Jud J, Schwarz M, Milenkovic I, Weng R, Koren J, Baumgartner C, Brugger M, Brunet T, Graf E, Winkelmann J, Aull-Watschinger S, Zimprich F, Pataraia E. Krenn M, et al. Among authors: graf e. Neurol Genet. 2025 Apr 17;11(3):e200260. doi: 10.1212/NXG.0000000000200260. eCollection 2025 Jun. Neurol Genet. 2025. PMID: 40343077 Free PMC article.
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood.
Reijnders MRF, Seibt A, Brugger M, Lamers IJC, Ott T, Klaas O, Horváth J, Rose AMS, Craghill IM, Brunet T, Graf E, Mayerhanser K, Hellebrekers D, Pauck D, Neuen-Jacob E, Rodenburg RJT, Wieczorek D, Klee D, Mayatepek E, Driessen G, Bindermann R, Averdunk L, Lohmeier K, Sinnema M, Stegmann APA, Roepman R, Poulter JA, Distelmaier F. Reijnders MRF, et al. Among authors: graf e. Genet Med. 2023 Jul;25(7):100838. doi: 10.1016/j.gim.2023.100838. Epub 2023 Apr 11. Genet Med. 2023. PMID: 37057673 Free article.
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.
Krenn M, Wagner M, Zulehner G, Weng R, Jäger F, Keritam O, Sener M, Brücke C, Milenkovic I, Langer A, Buchinger D, Habersam R, Mayerhanser K, Brugger M, Brunet T, Jacob M, Graf E, Berutti R, Cetin H, Hoefele J, Winkelmann J, Zimprich F, Rath J. Krenn M, et al. Among authors: graf e. J Neurol. 2024 Apr;271(4):1937-1946. doi: 10.1007/s00415-023-12101-6. Epub 2023 Dec 21. J Neurol. 2024. PMID: 38127101 Free PMC article.
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, Bhasin 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, Ch… See abstract for full author list ➔ Schmidt A, et al. Among authors: graf e. 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.
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M, Dzinovic I, Skorvanek M, Harrer P, Necpal J, Kopajtich R, Kittke V, Tilch E, Zhao C, Tsoma E, Sorrentino U, Indelicato E, Stehr A, Saparov A, Abela L, Adamovicova M, Afenjar A, Assmann B, Baloghova J, Baumann M, Berutti R, Brezna Z, Brugger M, Brunet T, Cogne B, Colangelo I, Conboy E, Distelmaier F, Eckenweiler M, Garavaglia B, Geerlof A, Graf E, Hackenberg A, Harvanova D, Haslinger B, Havrankova P, Hoffmann GF, Janzarik WG, Keren B, Kolnikova M, Kolokotronis K, Kosutzka Z, Koy A, Krenn M, Krygier M, Kusikova K, Maier O, Meitinger T, Mertes C, Milenkovic I, Monfrini E, Mourao ASD, Musacchio T, Nizon M, Ostrozovicova M, Pavlov M, Prihodova I, Rektorova I, Romito LM, Rybanska B, Sadr-Nabavi A, Schwenger S, Shoeibi A, Sitzberger A, Smirnov D, Svantnerova J, Tautanova R, Toelle SP, Ulmanova O, Vetrini F, Vill K, Wagner M, Weise D, Zorzi G, Di Fonzo A, Oexle K, Berweck S, Mall V, Boesch S, Schormair B, Prokisch H, Jech R, Winkelmann J. Zech M, et al. Among authors: graf e. Brain. 2025 Feb 12:awaf059. doi: 10.1093/brain/awaf059. Online ahead of print. Brain. 2025. PMID: 39937650
556 results