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Page 1
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: rathkolb b. 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.
Novel mouse mutants with primary cellular immunodeficiencies generated by genome-wide mutagenesis.
Jakob T, Köllisch GV, Howaldt M, Bewersdorff M, Rathkolb B, Müller ML, Sandholzer N, Nitschke L, Schiemann M, Mempel M, Ollert M, Neubauer A, Soewarto DA, Kremmer E, Ring J, Behrendt H, Flaswinkel H. Jakob T, et al. Among authors: rathkolb b. J Allergy Clin Immunol. 2008 Jan;121(1):179-184.e7. doi: 10.1016/j.jaci.2007.07.018. Epub 2007 Sep 4. J Allergy Clin Immunol. 2008. PMID: 17767948
Clinical chemistry of human FcRn transgenic mice.
Stein C, Kling L, Proetzel G, Roopenian DC, de Angelis MH, Wolf E, Rathkolb B. Stein C, et al. Among authors: rathkolb b. Mamm Genome. 2012 Apr;23(3-4):259-69. doi: 10.1007/s00335-011-9379-6. Epub 2011 Dec 23. Mamm Genome. 2012. PMID: 22193411
EuroPhenome: a repository for high-throughput mouse phenotyping data.
Morgan H, Beck T, Blake A, Gates H, Adams N, Debouzy G, Leblanc S, Lengger C, Maier H, Melvin D, Meziane H, Richardson D, Wells S, White J, Wood J; EUMODIC Consortium; de Angelis MH, Brown SD, Hancock JM, Mallon AM. Morgan H, et al. Nucleic Acids Res. 2010 Jan;38(Database issue):D577-85. doi: 10.1093/nar/gkp1007. Epub 2009 Nov 23. Nucleic Acids Res. 2010. PMID: 19933761 Free PMC article.
The large-scale Munich ENU-mouse-mutagenesis screen.
Soewarto D, Fella C, Teubner A, Rathkolb B, Pargent W, Heffner S, Marschall S, Wolf E, Balling R, Hrabé de Angelis M. Soewarto D, et al. Among authors: rathkolb b. Mamm Genome. 2000 Jul;11(7):507-10. doi: 10.1007/s003350010097. Mamm Genome. 2000. PMID: 10886013 No abstract available.
Genome-wide, large-scale production of mutant mice by ENU mutagenesis.
Hrabé de Angelis MH, Flaswinkel H, Fuchs H, Rathkolb B, Soewarto D, Marschall S, Heffner S, Pargent W, Wuensch K, Jung M, Reis A, Richter T, Alessandrini F, Jakob T, Fuchs E, Kolb H, Kremmer E, Schaeble K, Rollinski B, Roscher A, Peters C, Meitinger T, Strom T, Steckler T, Holsboer F, Klopstock T, Gekeler F, Schindewolf C, Jung T, Avraham K, Behrendt H, Ring J, Zimmer A, Schughart K, Pfeffer K, Wolf E, Balling R. Hrabé de Angelis MH, et al. Among authors: rathkolb b. Nat Genet. 2000 Aug;25(4):444-7. doi: 10.1038/78146. Nat Genet. 2000. PMID: 10932192
166 results