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From next-generation sequencing alignments to accurate comparison and validation of single-nucleotide variants: the pibase software.
Forster M, Forster P, Elsharawy A, Hemmrich G, Kreck B, Wittig M, Thomsen I, Stade B, Barann M, Ellinghaus D, Petersen BS, May S, Melum E, Schilhabel MB, Keller A, Schreiber S, Rosenstiel P, Franke A. Forster M, et al. Among authors: may s. Nucleic Acids Res. 2013 Jan 7;41(1):e16. doi: 10.1093/nar/gks836. Epub 2012 Sep 10. Nucleic Acids Res. 2013. PMID: 22965131 Free PMC article.
Identification and characterization of two functional variants in the human longevity gene FOXO3.
Flachsbart F, Dose J, Gentschew L, Geismann C, Caliebe A, Knecht C, Nygaard M, Badarinarayan N, ElSharawy A, May S, Luzius A, Torres GG, Jentzsch M, Forster M, Häsler R, Pallauf K, Lieb W, Derbois C, Galan P, Drichel D, Arlt A, Till A, Krause-Kyora B, Rimbach G, Blanché H, Deleuze JF, Christiansen L, Christensen K, Nothnagel M, Rosenstiel P, Schreiber S, Franke A, Sebens S, Nebel A. Flachsbart F, et al. Among authors: may s. Nat Commun. 2017 Dec 12;8(1):2063. doi: 10.1038/s41467-017-02183-y. Nat Commun. 2017. PMID: 29234056 Free PMC article.
Publisher Correction: Identification and characterization of two functional variants in the human longevity gene FOXO3.
Flachsbart F, Dose J, Gentschew L, Geismann C, Caliebe A, Knecht C, Nygaard M, Badarinarayan N, ElSharawy A, May S, Luzius A, Torres GG, Jentzsch M, Forster M, Häsler R, Pallauf K, Lieb W, Derbois C, Galan P, Drichel D, Arlt A, Till A, Krause-Kyora B, Rimbach G, Blanché H, Deleuze JF, Christiansen L, Christensen K, Nothnagel M, Rosenstiel P, Schreiber S, Franke A, Sebens S, Nebel A. Flachsbart F, et al. Among authors: may s. Nat Commun. 2018 Jan 17;9(1):320. doi: 10.1038/s41467-018-02842-8. Nat Commun. 2018. PMID: 29339726 Free PMC article.
Linking pre-existing biorepositories for medical research: the PopGen 2.0 Network.
Lieb W, Jacobs G, Wolf A, Richter G, Gaede KI, Schwarz J, Arnold N, Böhm R, Buyx A, Cascorbi I, Franke A, Glinicke C, Held-Feindt J, Junker R, Kalthoff H, Kramer HH, Leypoldt F, Maass N, Maetzler W, May S, Mehdorn HM, Röcken C, Schafmayer C, Schrappe M, Schreiber S, Sebens S, Stephani U, Synowitz M, Weimer J, Zabel P, Nöthlings U, Röder C, Krawczak M. Lieb W, et al. Among authors: may s. J Community Genet. 2019 Oct;10(4):523-530. doi: 10.1007/s12687-019-00417-8. Epub 2019 Mar 29. J Community Genet. 2019. PMID: 30927239 Free PMC article.
Rare Variants in Specific Lysosomal Genes Are Associated With Parkinson's Disease.
Hopfner F, Mueller SH, Szymczak S, Junge O, Tittmann L, May S, Lohmann K, Grallert H, Lieb W, Strauch K, Müller-Nurasyid M, Berger K, Schormair B, Winkelmann J, Mollenhauer B, Trenkwalder C, Maetzler W, Berg D, Kasten M, Klein C, Höglinger GU, Gasser T, Deuschl G, Franke A, Krawczak M, Dempfle A, Kuhlenbäumer G. Hopfner F, et al. Among authors: may s. Mov Disord. 2020 Jul;35(7):1245-1248. doi: 10.1002/mds.28037. Epub 2020 Apr 8. Mov Disord. 2020. PMID: 32267580
OBJECTIVE: Impaired lysosomal degradation of alpha-synuclein and other cellular constituents may play an important role in Parkinson's disease (PD). Rare genetic variants in the glucocerebrosidase (GBA) gene were consistently associated with PD. ...
OBJECTIVE: Impaired lysosomal degradation of alpha-synuclein and other cellular constituents may play an important role in Parkinson' …
Private variants in PRKN are associated with late-onset Parkinson's disease.
Hopfner F, Mueller SH, Szymczak S, Junge O, Tittmann L, May S, Lohmann K, Grallert H, Lieb W, Strauch K, Müller-Nurasyid M, Berger K, Schormair B, Winkelmann J, Mollenhauer B, Trenkwalder C, Maetzler W, Berg D, Kasten M, Klein C, Höglinger GU, Gasser T, Deuschl G, Franke A, Krawczak M, Dempfle A, Kuhlenbäumer G. Hopfner F, et al. Among authors: may s. Parkinsonism Relat Disord. 2020 Jun;75:24-26. doi: 10.1016/j.parkreldis.2020.05.003. Epub 2020 May 11. Parkinsonism Relat Disord. 2020. PMID: 32442813 No abstract available.
Genomewide Association Study of Severe Covid-19 with Respiratory Failure.
Severe Covid-19 GWAS Group; Ellinghaus D, Degenhardt F, Bujanda L, Buti M, Albillos A, Invernizzi P, Fernández J, Prati D, Baselli G, Asselta R, Grimsrud MM, Milani C, Aziz F, Kässens J, May S, Wendorff M, Wienbrandt L, Uellendahl-Werth F, Zheng T, Yi X, de Pablo R, Chercoles AG, Palom A, Garcia-Fernandez AE, Rodriguez-Frias F, Zanella A, Bandera A, Protti A, Aghemo A, Lleo A, Biondi A, Caballero-Garralda A, Gori A, Tanck A, Carreras Nolla A, Latiano A, Fracanzani AL, Peschuck A, Julià A, Pesenti A, Voza A, Jiménez D, Mateos B, Nafria Jimenez B, Quereda C, Paccapelo C, Gassner C, Angelini C, Cea C, Solier A, Pestaña D, Muñiz-Diaz E, Sandoval E, Paraboschi EM, Navas E, García Sánchez F, Ceriotti F, Martinelli-Boneschi F, Peyvandi F, Blasi F, Téllez L, Blanco-Grau A, Hemmrich-Stanisak G, Grasselli G, Costantino G, Cardamone G, Foti G, Aneli S, Kurihara H, ElAbd H, My I, Galván-Femenia I, Martín J, Erdmann J, Ferrusquía-Acosta J, Garcia-Etxebarria K, Izquierdo-Sanchez L, Bettini LR, Sumoy L, Terranova L, Moreira L, Santoro L, Scudeller L, Mesonero F, Roade L, Rühlemann MC, Schaefer M, Carrabba M, Riveiro-Barciela M, Figuera Basso ME, Valsecchi MG, Hernandez-Tejero M, Acosta-He… See abstract for full author list ➔ Severe Covid-19 GWAS Group, et al. Among authors: may s. N Engl J Med. 2020 Oct 15;383(16):1522-1534. doi: 10.1056/NEJMoa2020283. Epub 2020 Jun 17. N Engl J Med. 2020. PMID: 32558485 Free PMC article.
1,449 results