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107 results

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Page 1
Mapping the human genetic architecture of COVID-19.
COVID-19 Host Genetics Initiative. COVID-19 Host Genetics Initiative. Nature. 2021 Dec;600(7889):472-477. doi: 10.1038/s41586-021-03767-x. Epub 2021 Jul 8. Nature. 2021. PMID: 34237774 Free PMC article.
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.
Hebebrand M, Hüffmeier U, Trollmann R, Hehr U, Uebe S, Ekici AB, Kraus C, Krumbiegel M, Reis A, Thiel CT, Popp B. Hebebrand M, et al. Among authors: hehr u. Orphanet J Rare Dis. 2019 Feb 11;14(1):38. doi: 10.1186/s13023-019-1020-x. Orphanet J Rare Dis. 2019. PMID: 30744660 Free PMC article. Review.
DCX-Related Disorders.
Geis T, Uyanik G, Aigner L, Couillard-Despres S, Winkler J, Hehr U. Geis T, et al. Among authors: hehr u. 2007 Oct 19 [updated 2025 Jun 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2007 Oct 19 [updated 2025 Jun 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301364 Free Books & Documents. Review.
Swarm Learning for decentralized and confidential clinical machine learning.
Warnat-Herresthal S, Schultze H, Shastry KL, Manamohan S, Mukherjee S, Garg V, Sarveswara R, Händler K, Pickkers P, Aziz NA, Ktena S, Tran F, Bitzer M, Ossowski S, Casadei N, Herr C, Petersheim D, Behrends U, Kern F, Fehlmann T, Schommers P, Lehmann C, Augustin M, Rybniker J, Altmüller J, Mishra N, Bernardes JP, Krämer B, Bonaguro L, Schulte-Schrepping J, De Domenico E, Siever C, Kraut M, Desai M, Monnet B, Saridaki M, Siegel CM, Drews A, Nuesch-Germano M, Theis H, Heyckendorf J, Schreiber S, Kim-Hellmuth S; COVID-19 Aachen Study (COVAS); Nattermann J, Skowasch D, Kurth I, Keller A, Bals R, Nürnberg P, Rieß O, Rosenstiel P, Netea MG, Theis F, Mukherjee S, Backes M, Aschenbrenner AC, Ulas T; Deutsche COVID-19 Omics Initiative (DeCOI); Breteler MMB, Giamarellos-Bourboulis EJ, Kox M, Becker M, Cheran S, Woodacre MS, Goh EL, Schultze JL. Warnat-Herresthal S, et al. Nature. 2021 Jun;594(7862):265-270. doi: 10.1038/s41586-021-03583-3. Epub 2021 May 26. Nature. 2021. PMID: 34040261 Free PMC article.
Detailed stratified GWAS analysis for severe COVID-19 in four European populations.
Degenhardt F, Ellinghaus D, Juzenas S, Lerga-Jaso J, Wendorff M, Maya-Miles D, Uellendahl-Werth F, ElAbd H, Rühlemann MC, Arora J, Özer O, Lenning OB, Myhre R, Vadla MS, Wacker EM, Wienbrandt L, Blandino Ortiz A, de Salazar A, Garrido Chercoles A, Palom A, Ruiz A, Garcia-Fernandez AE, Blanco-Grau A, Mantovani A, Zanella A, Holten AR, Mayer A, Bandera A, Cherubini A, Protti A, Aghemo A, Gerussi A, Ramirez A, Braun A, Nebel A, Barreira A, Lleo A, Teles A, Kildal AB, Biondi A, Caballero-Garralda A, Ganna A, Gori A, Glück A, Lind A, Tanck A, Hinney A, Carreras Nolla A, Fracanzani AL, Peschuck A, Cavallero A, Dyrhol-Riise AM, Ruello A, Julià A, Muscatello A, Pesenti A, Voza A, Rando-Segura A, Solier A, Schmidt A, Cortes B, Mateos B, Nafria-Jimenez B, Schaefer B, Jensen B, Bellinghausen C, Maj C, Ferrando C, de la Horra C, Quereda C, Skurk C, Thibeault C, Scollo C, Herr C, Spinner CD, Gassner C, Lange C, Hu C, Paccapelo C, Lehmann C, Angelini C, Cappadona C, Azuure C; COVICAT study group, Aachen Study (COVAS); Bianco C, Cea C, Sancho C, Hoff DAL, Galimberti D, Prati D, Haschka D, Jiménez D, Pestaña D, Toapanta D, Muñiz-Diaz E, Azzolini E, Sandoval E, Binatti E, Scarpini E, Helbig ET, Ca… See abstract for full author list ➔ Degenhardt F, et al. Among authors: hehr u. Hum Mol Genet. 2022 Nov 28;31(23):3945-3966. doi: 10.1093/hmg/ddac158. Hum Mol Genet. 2022. PMID: 35848942 Free PMC article.
The Two Faces of Pediatric SCA2.
Rive Le Gouard N, G Bah M, Coarelli G, Heinzmann A, Fauret AL, de Sainte-Agathe JM, Cazeneuve C, Gerasimenko A, Gras D, Capri Y, Renaud M, Brais B, Grenenko C, Masurel A, Berquin P, Jobic F, Métreau J, Deiva K, Afenjar A, Gravrand V, Lannuzel A, Anheim M, Geis T, Hehr U, Madan Cohen J, Desnous B, J A Kievit A, Bahi-Buisson N, Rodriguez D, Renaldo F, Cances C, Devos D, Angelini C, Goizet C, Ewenczyk C, Durr A, Mignot C. Rive Le Gouard N, et al. Among authors: hehr u. Eur J Neurol. 2025 Aug;32(8):e70314. doi: 10.1111/ene.70314. Eur J Neurol. 2025. PMID: 40741828 Free PMC article.
Systematic assessment of COVID-19 host genetics using whole genome sequencing data.
Schmidt A, Casadei N, Brand F, Demidov G, Vojgani E, Abolhassani A, Aldisi R, Butler-Laporte G; DeCOI host genetics group; Alawathurage TM, Augustin M, Bals R, Bellinghausen C, Berger MM, Bitzer M, Bode C, Boos J, Brenner T, Cornely OA, Eggermann T, Erber J, Feldt T, Fuchsberger C, Gagneur J, Göpel S, Haack T, Häberle H, Hanses F, Heggemann J, Hehr U, Hellmuth JC, Herr C, Hinney A, Hoffmann P, Illig T, Jensen BO, Keitel V, Kim-Hellmuth S, Koehler P, Kurth I, Lanz AL, Latz E, Lehmann C, Luedde T, Maj C, Mian M, Miller A, Muenchhoff M, Pink I, Protzer U, Rohn H, Rybniker J, Scaggiante F, Schaffeldt A, Scherer C, Schieck M, Schmidt SV, Schommers P, Spinner CD, Vehreschild MJGT, Velavan TP, Volland S, Wilfling S, Winter C, Richards JB; DeCOI; Heimbach A, Becker K, Ossowski S, Schultze JL, Nürnberg P, Nöthen MM, Motameny S, Nothnagel M, Riess O, Schulte EC, Ludwig KU. Schmidt A, et al. Among authors: hehr u. PLoS Pathog. 2024 Dec 23;20(12):e1012786. doi: 10.1371/journal.ppat.1012786. eCollection 2024 Dec. PLoS Pathog. 2024. PMID: 39715278 Free PMC article.
International consensus recommendations on the diagnostic work-up for malformations of cortical development.
Oegema R, Barakat TS, Wilke M, Stouffs K, Amrom D, Aronica E, Bahi-Buisson N, Conti V, Fry AE, Geis T, Andres DG, Parrini E, Pogledic I, Said E, Soler D, Valor LM, Zaki MS, Mirzaa G, Dobyns WB, Reiner O, Guerrini R, Pilz DT, Hehr U, Leventer RJ, Jansen AC, Mancini GMS, Di Donato N. Oegema R, et al. Among authors: hehr u. Nat Rev Neurol. 2020 Nov;16(11):618-635. doi: 10.1038/s41582-020-0395-6. Epub 2020 Sep 7. Nat Rev Neurol. 2020. PMID: 32895508 Free PMC article. Review.
Genetic assessment of cortical malformations.
Hehr U, Schuierer G. Hehr U, et al. Neuropediatrics. 2011 Feb;42(2):43-50. doi: 10.1055/s-0031-1279787. Epub 2011 Jun 20. Neuropediatrics. 2011. PMID: 21692014 Review.
107 results