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365 results

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Page 1
Characterization of circular RNAs in human, mouse and rat hearts.
Werfel S, Nothjunge S, Schwarzmayr T, Strom TM, Meitinger T, Engelhardt S. Werfel S, et al. Among authors: strom tm. J Mol Cell Cardiol. 2016 Sep;98:103-7. doi: 10.1016/j.yjmcc.2016.07.007. Epub 2016 Jul 28. J Mol Cell Cardiol. 2016. PMID: 27476877 Free article.
Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia.
Diener S, Bayer S, Sabrautzki S, Wieland T, Mentrup B, Przemeck GK, Rathkolb B, Graf E, Hans W, Fuchs H, Horsch M, Schwarzmayr T, Wolf E, Klopocki E, Jakob F, Strom TM, Hrabě de Angelis M, Lorenz-Depiereux B. Diener S, et al. Among authors: strom tm. Mamm Genome. 2016 Apr;27(3-4):111-21. doi: 10.1007/s00335-016-9619-x. Epub 2016 Jan 23. Mamm Genome. 2016. PMID: 26803617
Genetic diagnosis of Mendelian disorders via RNA sequencing.
Kremer LS, Bader DM, Mertes C, Kopajtich R, Pichler G, Iuso A, Haack TB, Graf E, Schwarzmayr T, Terrile C, Koňaříková E, Repp B, Kastenmüller G, Adamski J, Lichtner P, Leonhardt C, Funalot B, Donati A, Tiranti V, Lombes A, Jardel C, Gläser D, Taylor RW, Ghezzi D, Mayr JA, Rötig A, Freisinger P, Distelmaier F, Strom TM, Meitinger T, Gagneur J, Prokisch H. Kremer LS, et al. Among authors: strom tm. Nat Commun. 2017 Jun 12;8:15824. doi: 10.1038/ncomms15824. Nat Commun. 2017. PMID: 28604674 Free PMC article.
Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities.
Herebian D, Alhaddad B, Seibt A, Schwarzmayr T, Danhauser K, Klee D, Harmsen S, Meitinger T, Strom TM, Schulz A, Mayatepek E, Haack TB, Distelmaier F. Herebian D, et al. Among authors: strom tm. Eur J Hum Genet. 2017 Sep;25(9):1092-1095. doi: 10.1038/ejhg.2017.96. Epub 2017 Jun 14. Eur J Hum Genet. 2017. PMID: 28612835 Free PMC article.
A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy.
Iuso A, Alhaddad B, Weigel C, Kotzaeridou U, Mastantuono E, Schwarzmayr T, Graf E, Terrile C, Prokisch H, Strom TM, Hoffmann GF, Meitinger T, Haack TB. Iuso A, et al. Among authors: strom tm. JIMD Rep. 2019;44:1-7. doi: 10.1007/8904_2018_115. Epub 2018 Jun 20. JIMD Rep. 2019. PMID: 29923093 Free PMC article.
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.
Haack TB, Hogarth P, Kruer MC, Gregory A, Wieland T, Schwarzmayr T, Graf E, Sanford L, Meyer E, Kara E, Cuno SM, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Frucht S, Hanspal E, Schrander-Stumpel C, Héron D, Mignot C, Garavaglia B, Bhatia K, Hardy J, Strom TM, Boddaert N, Houlden HH, Kurian MA, Meitinger T, Prokisch H, Hayflick SJ. Haack TB, et al. Among authors: strom tm. Am J Hum Genet. 2012 Dec 7;91(6):1144-9. doi: 10.1016/j.ajhg.2012.10.019. Epub 2012 Nov 21. Am J Hum Genet. 2012. PMID: 23176820 Free PMC article.
The genomic landscape of hepatoblastoma and their progenies with HCC-like features.
Eichenmüller M, Trippel F, Kreuder M, Beck A, Schwarzmayr T, Häberle B, Cairo S, Leuschner I, von Schweinitz D, Strom TM, Kappler R. Eichenmüller M, et al. Among authors: strom tm. J Hepatol. 2014 Dec;61(6):1312-20. doi: 10.1016/j.jhep.2014.08.009. Epub 2014 Aug 15. J Hepatol. 2014. PMID: 25135868
Frequency and clinical correlates of somatic Ying Yang 1 mutations in sporadic insulinomas.
Lichtenauer UD, Di Dalmazi G, Slater EP, Wieland T, Kuebart A, Schmittfull A, Schwarzmayr T, Diener S, Wiese D, Thasler WE, Reincke M, Meitinger T, Schott M, Fassnacht M, Bartsch DK, Strom TM, Beuschlein F. Lichtenauer UD, et al. Among authors: strom tm. J Clin Endocrinol Metab. 2015 May;100(5):E776-82. doi: 10.1210/jc.2015-1100. Epub 2015 Mar 12. J Clin Endocrinol Metab. 2015. PMID: 25763608
365 results