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Page 1
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: oexle k. 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.
The reactive pyruvate metabolite dimethylglyoxal mediates neurological consequences of diabetes.
Rhein S, Costalunga R, Inderhees J, Gürtzgen T, Faupel TC, Shaheryar Z, Arrulo Pereira A, Othman A, Begemann K, Binder S, Stölting I, Dorta V, Nawroth PP, Fleming T, Oexle K, Prevot V, Nogueiras R, Meyhöfer S, Meyhöfer SM, Schwaninger M. Rhein S, et al. Among authors: oexle k. Nat Commun. 2024 Jul 10;15(1):5745. doi: 10.1038/s41467-024-50089-3. Nat Commun. 2024. PMID: 38987239 Free PMC article.
Genome-wide meta-analyses of restless legs syndrome yield insights into genetic architecture, disease biology and risk prediction.
Schormair B, Zhao C, Bell S, Didriksen M, Nawaz MS, Schandra N, Stefani A, Högl B, Dauvilliers Y, Bachmann CG, Kemlink D, Sonka K, Paulus W, Trenkwalder C, Oertel WH, Hornyak M, Teder-Laving M, Metspalu A, Hadjigeorgiou GM, Polo O, Fietze I, Ross OA, Wszolek ZK, Ibrahim A, Bergmann M, Kittke V, Harrer P, Dowsett J, Chenini S, Ostrowski SR, Sørensen E, Erikstrup C, Pedersen OB, Topholm Bruun M, Nielsen KR, Butterworth AS, Soranzo N, Ouwehand WH, Roberts DJ, Danesh J, Burchell B, Furlotte NA, Nandakumar P; 23andMe Research Team; D.E.S.I.R. study group; Earley CJ, Ondo WG, Xiong L, Desautels A, Perola M, Vodicka P, Dina C, Stoll M, Franke A, Lieb W, Stewart AFR, Shah SH, Gieger C, Peters A, Rye DB, Rouleau GA, Berger K, Stefansson H, Ullum H, Stefansson K, Hinds DA, Di Angelantonio E, Oexle K, Winkelmann J. Schormair B, et al. Among authors: oexle k. Nat Genet. 2024 Jun;56(6):1090-1099. doi: 10.1038/s41588-024-01763-1. Epub 2024 Jun 5. Nat Genet. 2024. PMID: 38839884 Free PMC article.
Phenotypic and genome-wide studies on dicarbonyls: major associations to glomerular filtration rate and gamma-glutamyltransferase activity.
Harrer P, Inderhees J, Zhao C, Schormair B, Tilch E, Gieger C, Peters A, Jöhren O, Fleming T, Nawroth PP, Berger K, Hermesdorf M, Winkelmann J, Schwaninger M, Oexle K. Harrer P, et al. Among authors: oexle k. EBioMedicine. 2024 Mar;101:105007. doi: 10.1016/j.ebiom.2024.105007. Epub 2024 Feb 13. EBioMedicine. 2024. PMID: 38354534 Free PMC article.
Episignature analysis of moderate effects and mosaics.
Oexle K, Zech M, Stühn LG, Siegert S, Brunet T, Schmidt WM, Wagner M, Schmidt A, Engels H, Tilch E, Monestier O, Destrėe A, Hanker B, Boesch S, Jech R, Berutti R, Kaiser F, Haslinger B, Haack TB, Garavaglia B, Krawitz P, Winkelmann J, Mirza-Schreiber N. Oexle K, et al. Eur J Hum Genet. 2023 Sep;31(9):1032-1039. doi: 10.1038/s41431-023-01406-9. Epub 2023 Jun 26. Eur J Hum Genet. 2023. PMID: 37365401 Free PMC article.
Epigenetic Association Analyses and Risk Prediction of RLS.
Harrer P, Mirza-Schreiber N, Mandel V, Roeber S, Stefani A, Naher S, Wagner M, Gieger C, Waldenberger M, Peters A, Högl B, Herms J, Schormair B, Zhao C, Winkelmann J, Oexle K. Harrer P, et al. Among authors: oexle k. Mov Disord. 2023 Aug;38(8):1410-1418. doi: 10.1002/mds.29440. Epub 2023 May 22. Mov Disord. 2023. PMID: 37212434
A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration.
Clark R, Lee SS, Du R, Wang Y, Kneepkens SCM, Charng J, Huang Y, Hunter ML, Jiang C, Tideman JWL, Melles RB, Klaver CCW, Mackey DA, Williams C, Choquet H, Ohno-Matsui K, Guggenheim JA; CREAM Consortium; UK Biobank Eye and Vision Consortium. Clark R, et al. EBioMedicine. 2023 May;91:104551. doi: 10.1016/j.ebiom.2023.104551. Epub 2023 Apr 11. EBioMedicine. 2023. PMID: 37055258 Free PMC article.
Rare variant analyses across multiethnic cohorts identify novel genes for refractive error.
Musolf AM, Haarman AEG, Luben RN, Ong JS, Patasova K, Trapero RH, Marsh J, Jain I, Jain R, Wang PZ, Lewis DD, Tedja MS, Iglesias AI, Li H, Cowan CS; Consortium for Refractive Error and Myopia (CREAM); Biino G, Klein AP, Duggal P, Mackey DA, Hayward C, Haller T, Metspalu A, Wedenoja J, Pärssinen O, Cheng CY, Saw SM, Stambolian D, Hysi PG, Khawaja AP, Vitart V, Hammond CJ, van Duijn CM, Verhoeven VJM, Klaver CCW, Bailey-Wilson JE. Musolf AM, et al. Commun Biol. 2023 Jan 3;6(1):6. doi: 10.1038/s42003-022-04323-7. Commun Biol. 2023. PMID: 36596879 Free PMC article.
Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions.
Harrer P, Schalk A, Shimura M, Baer S, Calmels N, Spitz MA, Warde MA, Schaefer E, Kittke VMS, Dincer Y, Wagner M, Dzinovic I, Berutti R, Sato T, Shirakawa T, Okazaki Y, Murayama K, Oexle K, Prokisch H, Mall V, Melčák I, Winkelmann J, Zech M. Harrer P, et al. Among authors: oexle k. Ann Neurol. 2023 Feb;93(2):330-335. doi: 10.1002/ana.26544. Epub 2022 Nov 18. Ann Neurol. 2023. PMID: 36333996
107 results