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Page 1
Did you mean eisenberger c (109 results)?
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Calame DG, Guo T, Wang C, Garrett L, Jolly A, Dawood M, Kurolap A, Henig NZ, Fatih JM, Herman I, Du H, Mitani T, Becker L, Rathkolb B, Gerlini R, Seisenberger C, Marschall S, Hunter JV, Gerard A, Heidlebaugh A, Challman T, Spillmann RC, Jhangiani SN, Coban-Akdemir Z, Lalani S, Liu L, Revah-Politi A, Iglesias A, Guzman E, Baugh E, Boddaert N, Rondeau S, Ormieres C, Barcia G, Tan QKG, Thiffault I, Pastinen T, Sheikh K, Biliciler S, Mei D, Melani F, Shashi V, Yaron Y, Steele M, Wakeling E, Østergaard E, Nazaryan-Petersen L; Undiagnosed Diseases Network; Millan F, Santiago-Sim T, Thevenon J, Bruel AL, Thauvin-Robinet C, Popp D, Platzer K, Gawlinski P, Wiszniewski W, Marafi D, Pehlivan D, Posey JE, Gibbs RA, Gailus-Durner V, Guerrini R, Fuchs H, Hrabě de Angelis M, Hölter SM, Cheung HH, Gu S, Lupski JR. Calame DG, et al. Among authors: seisenberger c. Am J Hum Genet. 2023 Aug 3;110(8):1394-1413. doi: 10.1016/j.ajhg.2023.06.013. Epub 2023 Jul 18. Am J Hum Genet. 2023. PMID: 37467750 Free PMC article.
Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita.
Sanz-Moreno A, Becker L, Xie K, da Silva-Buttkus P, Dragano NRV, Aguilar-Pimentel A, Amarie OV, Calzada-Wack J, Kraiger M, Leuchtenberger S, Seisenberger C, Marschall S, Rathkolb B, Scifo E, Liu T, Thanabalasingam A, Sanchez-Vazquez R, Martinez P, Blasco MA, Savage SA, Fuchs H, Ehninger D, Gailus-Durner V, de Angelis MH. Sanz-Moreno A, et al. Among authors: seisenberger c. Sci Adv. 2025 Apr 11;11(15):eadp8093. doi: 10.1126/sciadv.adp8093. Epub 2025 Apr 11. Sci Adv. 2025. PMID: 40215293 Free PMC article.
Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy.
Spielmann N, Miller G, Oprea TI, Hsu CW, Fobo G, Frishman G, Montrone C, Haseli Mashhadi H, Mason J, Munoz Fuentes V, Leuchtenberger S, Ruepp A, Wagner M, Westphal DS, Wolf C, Görlach A, Sanz-Moreno A, Cho YL, Teperino R, Brandmaier S, Sharma S, Galter IR, Östereicher MA, Zapf L, Mayer-Kuckuk P, Rozman J, Teboul L, Bunton-Stasyshyn RKA, Cater H, Stewart M, Christou S, Westerberg H, Willett AM, Wotton JM, Roper WB, Christiansen AE, Ward CS, Heaney JD, Reynolds CL, Prochazka J, Bower L, Clary D, Selloum M, Bou About G, Wendling O, Jacobs H, Leblanc S, Meziane H, Sorg T, Audain E, Gilly A, Rayner NW; IMPC consortium; Genomics England Research Consortium; Hitz MP, Zeggini E, Wolf E, Sedlacek R, Murray SA, Svenson KL, Braun RE, White JK, Kelsey L, Gao X, Shiroishi T, Xu Y, Seong JK, Mammano F, Tocchini-Valentini GP, Beaudet AL, Meehan TF, Parkinson H, Smedley D, Mallon AM, Wells SE, Grallert H, Wurst W, Marschall S, Fuchs H, Brown SDM, Flenniken AM, Nutter LMJ, McKerlie C, Herault Y, Lloyd KCK, Dickinson ME, Gailus-Durner V, Hrabe de Angelis M. Spielmann N, et al. Nat Cardiovasc Res. 2022 Feb;1(2):157-173. doi: 10.1038/s44161-022-00018-8. Epub 2022 Feb 17. Nat Cardiovasc Res. 2022. PMID: 39195995 Free PMC article.
Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
Riedhammer KM, Nguyen TT, Koşukcu C, Calzada-Wack J, Li Y, Assia Batzir N, Saygılı S, Wimmers V, Kim GJ, Chrysanthou M, Bakey Z, Sofrin-Drucker E, Kraiger M, Sanz-Moreno A, Amarie OV, Rathkolb B, Klein-Rodewald T, Garrett L, Hölter SM, Seisenberger C, Haug S, Schlosser P, Marschall S, Wurst W, Fuchs H, Gailus-Durner V, Wuttke M, Hrabe de Angelis M, Ćomić J, Akgün Doğan Ö, Özlük Y, Taşdemir M, Ağbaş A, Canpolat N, Orenstein N, Çalışkan S, Weber RG, Bergmann C, Jeanpierre C, Saunier S, Lim TY, Hildebrandt F, Alhaddad B, Basel-Salmon L, Borovitz Y, Wu K, Antony D, Matschkal J, Schaaf CW, Renders L, Schmaderer C, Rogg M, Schell C, Meitinger T, Heemann U, Köttgen A, Arnold SJ, Ozaltin F, Schmidts M, Hoefele J. Riedhammer KM, et al. Among authors: seisenberger c. Kidney Int. 2024 Apr;105(4):844-864. doi: 10.1016/j.kint.2023.11.032. Epub 2023 Dec 26. Kidney Int. 2024. PMID: 38154558 Free PMC article.
Loss of histone macroH2A1.1 causes kidney abnormalities secondary to a change in nutrient metabolization.
Winkler R, Comas-Armangué G, Corujo D, Sanz-Moreno A, Calzada-Wack J, Bhattacharya SA, Rathkolb B, Dragano NRV, Qiao CX, Chiodi V, Filipescu D, Park DH, Domenici MR, Kirigin Callaú V, Gerlini R, Rozman J, Klein-Rodewald T, Aguilar-Pimentel A, Becker L, Seisenberger C, Marschall S, Fuchs H, Gailus-Durner V, Bernstein E, Vinciguerra M, Oberdoerffer P, Hrabě de Angelis M, Teperino R, Buschbeck M. Winkler R, et al. Among authors: seisenberger c. Sci Adv. 2025 Oct 24;11(43):eadz1242. doi: 10.1126/sciadv.adz1242. Epub 2025 Oct 24. Sci Adv. 2025. PMID: 41134882 Free PMC article.
Recessive variants in WSB2 encoding a substrate receptor of E3 ubiquitin ligase underlie a neurodevelopmental syndrome.
Luo S, Gailus-Durner V, McGivern B, Li Q, Kottmeier J, Ho ML, Mor-Shaked H, Elpeleg O, Aref-Eshghi E, Brodeur AC, Schmitz-Abe K, Genetti CA, Picker J, Shi J, Bux RI, Ben-Omran T, Fuchs H, Harel T, de Angelis MH; German Mouse Clinic Consortium; Agrawal PB. Luo S, et al. Eur J Hum Genet. 2025 May 15. doi: 10.1038/s41431-025-01863-4. Online ahead of print. Eur J Hum Genet. 2025. PMID: 40374945
Genome Wide Conditional Mouse Knockout Resources.
Kaloff C, Anastassiadis K, Ayadi A, Baldock R, Beig J, Birling MC, Bradley A, Brown S, Bürger A, Bushell W, Chiani F, Collins FS, Doe B, Eppig JT, Finnel RH, Fletcher C, Flicek P, Fray M, Friedel RH, Gambadoro A, Gates H, Hansen J, Herault Y, Hicks GG, Hörlein A, Hrabé de Angelis M, Iyer V, de Jong PJ, Koscielny G, Kühn R, Liu P, Lloyd KC, Lopez RG, Marschall S, Martínez S, McKerlie C, Meehan T, von Melchner H, Moore M, Murray SA, Nagy A, Nutter L, Pavlovic G, Pombero A, Prosser H, Ramirez-Solis R, Ringwald M, Rosen B, Rosenthal N, Rossant J, Ruiz Noppinger P, Ryder E, Skarnes WC, Schick J, Schnütgen F, Schofield P, Seisenberger C, Selloum M, Smedley D, Simpson EM, Stewart AF, Teboul L, Tocchini Valentini GP, Valenzuela D, West A, Wurst W. Kaloff C, et al. Among authors: seisenberger c. Drug Discov Today Dis Models. 2016 Summer;20:3-12. doi: 10.1016/j.ddmod.2017.08.002. Epub 2017 Sep 12. Drug Discov Today Dis Models. 2016. PMID: 39132094 Free PMC article.
EUCOMM--the European conditional mouse mutagenesis program.
Friedel RH, Seisenberger C, Kaloff C, Wurst W. Friedel RH, et al. Among authors: seisenberger c. Brief Funct Genomic Proteomic. 2007 Sep;6(3):180-5. doi: 10.1093/bfgp/elm022. Epub 2007 Oct 29. Brief Funct Genomic Proteomic. 2007. PMID: 17967808
CRISPR-Cas9 enables conditional mutagenesis of challenging loci.
Schick JA, Seisenberger C, Beig J, Bürger A, Iyer V, Maier V, Perera S, Rosen B, Skarnes WC, Wurst W. Schick JA, et al. Among authors: seisenberger c. Sci Rep. 2016 Sep 1;6:32326. doi: 10.1038/srep32326. Sci Rep. 2016. PMID: 27580957 Free PMC article.
40 results