2013

40 Beuschlein F, Boulkroun S, Osswald A, Wieland T, Nielsen HN, Lichtenauer UD, Penton D, Schack VR, Amar L, Fischer E, Walther A, Tauber P, Schwarzmayr T, Diener S, Graf E, Allolio B, Samson-Couterie B, Benecke A, Quinkler M, Fallo F, Plouin PF, Mantero F, Meitinger T, Mulatero P, Jeunemaitre X, Warth R, Vilsen B, Zennaro MC, Strom TM, Reincke M. Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension. Nat Genet. 2013 Apr;45(4):440-4

39 Crotti L, Johnson CN, Graf E, De Ferrari GM, Cuneo BF, Ovadia M, Papagiannis J, Feldkamp MD, Rathi SG, Kunic JD, Pedrazzini M, Wieland T, Lichtner P, Beckmann BM, Clark T, Shaffer C, Benson DW, Kääb S, Meitinger T, Strom TM, Chazin WJ, Schwartz PJ, George AL Jr. Calmodulin mutations associated with recurrent cardiac arrest in infants. Circulation. 2013 Mar 5;127(9):1009-17.

38 Kornblum C, Nicholls TJ, Haack TB, Schöler S, Peeva V, Danhauser K, Hallmann K, Zsurka G, Rorbach J, Iuso A, Wieland T, Sciacco M, Ronchi D, Comi GP, Moggio M, Quinzii CM, DiMauro S, Calvo SE, Mootha VK, Klopstock T, Strom TM, Meitinger T, Minczuk M, Kunz WS, Prokisch H. Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. Nat Genet. 2013 Feb;45(2):214-9.

37 Oates EC, Rossor AM, Hafezparast M, Gonzalez M, Speziani F, Macarthur DG, Lek M, Cottenie E, Scoto M, Foley AR, Hurles M, Houlden H, Greensmith L, Auer-Grumbach M, Pieber TR, Strom TM, Schule R, Herrmann DN, Sowden JE, Acsadi G, Menezes MP, Clarke NF, Züchner S; UK10K, Muntoni F, North KN, Reilly MM. Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia. Am J Hum Genet. 2013 May 9. doi:pii: S0002-9297(13)00179-1.

36 Stogmann E, Reinthaler E, Eltawil S, El Etribi MA, Hemeda M, El Nahhas N, Gaber AM, Fouad A, Edris S, Benet-Pages A, Eck SH, Pataraia E, Mei D, Brice A, Lesage S, Guerrini R, Zimprich F, Strom TM, Zimprich A. Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2. Brain. 2013 Apr;136(Pt 4):1155-60

2012

35 Beetz, Christian, Thomas Pieber, Nicole Hertel, Maria Schabhüttl, Carina Fischer, Slave Trajanovski, Elisabeth Graf, Silke Keiner, Ingo Kurth, Thomas Wieland, Rita-Eva Varga, Vincent Timmerman, Mary M. Reilly, Tim M Strom, Michaela Auer-Grumbach. A gain-of-function mutation defines REEP1 as a novel gene for autosomal dominant hereditary motor neuropathy type V.  Am J Hum Genet, in press. 

34 Danhauser K, Sauer SW, Haack TB, Wieland T, Staufner C, Graf E, Zschocke J, Strom TM, Traub T, Okun JG, Meitinger T, Hoffmann GF, Prokisch H, Kölker S. DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. Am J Hum Genet. 2012 Dec 7;91(6):1082-7.

33 Ghezzi D, Baruffini E, Haack TB, Invernizzi F, Melchionda L, Dallabona C, Strom TM, Parini R, Burlina AB, Meitinger T, Prokisch H, Ferrero I, Zeviani M. Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. Am J Hum Genet. 2012 Jun 8;90(6):1079-87

32 Giehl KA, Eckstein GN, Pasternack SM, Praetzel-Wunder S, Ruzicka T, Lichtner P, Seidl K, Rogers M, Graf E, Langbein L, Braun-Falco M, Betz RC, Strom TM. Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. Am J Hum Genet. 2012 Oct 5;91(4):754-9.

31 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. Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet. 2012 Dec 7;91(6):1144-9.

30 Keller A., Angela Graefen, Markus Ball, Mark Matzas, Valesca Boisguerin, Frank Maixner, Petra Leidinger, Rabab Khairat, Andre Franke, Jens Mayer1, Jessica Spangler6, Stephen McLaughlin6, Minita Shah6, Clarence Lee6, Timothy T. Harkins6, Alexander Sartori6, Andres Moreno-Estrada7, Brenna  Henn7, Carlos D. Bustamante7, Eduard Egarter Vigl9, Marco Samadelli2, Giovanna Cipollini Jan Haas, Hugo Katus, Benjamin Meder, Nikolaus Blin, Eckart Meese, Carsten M. Pusch, Albert Zink.  New insights into the Tyrolean Iceman?s origin and phenotype as inferred by whole-genome sequencing.  Nat Communications 2012 (epub ahead)

29 Laczny C., Petra Leidinger, Jan Haas, Nicole Ludwig, Christina Backes, Andreas Gerasch, Michael Kaufmann, Britta Vogel, Hugo A. Katus, Benjamin Meder, Cord Stahler, Eckart Meese, Hans-Peter Lenhof and Andreas Keller.  miRTrail--a comprehensive webserver for analyzing gene and miRNA patterns to enhance the understanding of regulatory mechanisms in diseases. BMC Bioinformatics 2012,13:56 (epub ahead)

28 Mayr JA, Haack TB, Graf E, Zimmermann FA, Wieland T, Haberberger B, Superti-Furga A, Kirschner J, Steinmann B, Baumgartner MR, Moroni I, Lamantea E, Zeviani M, Rodenburg RJ, Smeitink J, Strom TM, Meitinger T, Sperl W, Prokisch H.  Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.  Am J Hum Genet. 2012 Feb 10;90(2):314-20. Epub 2012 Jan 26. PubMed PMID: 22284826; PubMed Central PMCID: PMC3276657.

27 Meder B, Katus HA.  Clinical and genetic aspects of hypertrophic and dilated cardiomyopathy.  Internist 2012 [Epub ahead of print].

26 Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, Dufke A, Cremer K, Hempel M, Horn D, Hoyer J, Joset P, Röpke A, Moog U, Riess A, Thiel CT, Tzschach A, Wiesener A, Wohlleber E, Zweier C, Ekici AB, Zink AM, Rump A, Meisinger C, Grallert H, Sticht H, Schenck A, Engels H, Rappold G, Schröck E, Wieacker P, Riess O, Meitinger T, Reis A, Strom TM. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet. 2012 Nov 10;380(9854):1674-82

25 Steenweg ME, Ghezzi D, Haack T, Abbink TE, Martinelli D, van Berkel CG, Bley A, Diogo L, Grillo E, Te Water Naudé J, Strom TM, Bertini E, Prokisch H, van der Knaap MS, Zeviani M.  Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.  Brain. 2012 Apr 4. [Epub ahead of print] PubMed PMID: 22492562.

24 Winkelmann J, Lin L, Schormair B, Kornum BR, Faraco J, Plazzi G, Melberg A, Cornelio F, Urban AE, Pizza F, Poli F, Grubert F, Wieland T, Graf E, Hallmayer J, Strom TM, Mignot E.  Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy.  Hum Mol Genet. 2012 Feb 23. [Epub ahead of print] PubMed PMID: 22328086. 

2011

23 Abou Jamra R, Philippe O, Raas-Rothschild A, Eck SH, Graf E, Buchert R, Borck G, Ekici A, Brockschmidt FF, Nöthen MM, Munnich A, Strom TM, Reis A, Colleaux L. Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am J Hum Genet. 2011 Jun 10;88(6):788-95. Epub 2011 May 27. PubMed PMID: 21620353; PubMed Central PMCID: PMC3113253.

22 Andreas Keller, Christina Backes, Petra Leidinger, Nathalie Kefer, Valesca Boisguerin, Catalin Barbacioru, Britta Vogel, Mark Matzas, Hanno Huwer, Hugo A.Katus, Cord Stähler, Benjamin Meder*, Eckart Meese*. Next-generation sequencing identifies novel microRNAs in peripheral blood of lung cancer patients. Molecular Biosystems. 2011 (epub ahead). Dec;7(12):3187-99. Epub 2011 Oct 25.

21 Ehlermann P, Lehrke S, Papavassiliu T, Meder B, Borggrefe M, Katus HA, Schimpf R. Sudden cardiac death in a patient with lamin A/C mutation in the absence of dilated cardiomyopathy or conduction disease. Clin Res Cardiol. 2011 Feb 16. [Epub ahead of print]

20 Haas J, Katus HA, Meder B. Next-generation sequencing entering the clinical arena. Mol Cell Probes. 2011 Sep 8. [Epub ahead of print].

19 Just S*, Meder B*, Ina M. Berger, Christelle Etard, Nicole Trano, David Hassel, Sabine Marquart, Tillman Dahme, Alexander Hess, Britta Vogel, Mark C. Fishman, Uwe Strähle, Hugo A. Katus, Wolfgang Rottbauer. (*first and second author contributed equally). The myosin-interacting protein SMYD1 is essential for sarcomere organization. Journal of Cell Science 2011 (epub ahead of print)

18 Just S, Berger IM, Meder B, Backs J, Marquart S, Eva Patzel, Gerd-Jörg Rauch; Tübingen 2000 Screen Consortium; Hugo A. Katus; Wolfgang Rottbauer. Protein kinase D2 controls cardiac valve formation in zebrafish by regulating HDAC5 activity. Circulation 2011 (epub ahead of print).

17 Keller A, Harz C, Matzas M, Meder B, Katus HA, Ludwig N, Fischer U, Meese E. Identification of novel SNPs in glioblastoma using targeted resequencing. PLoS One. 2011;6(6):e18158. Epub 2011 Jun 10

16 Keller A, Leidinger P, Bauer A, ElSharawy A, Haas J, Backes C, Wendschlag A, Giese N, Tjaden C, Ott K, Werner J, Hackert T, Ruprecht K, Huwer H, Huebers J, Jacobs G, Rosenstiel P, Dommisch H, Schaefer A, Müller-Quernheim J, Wullich B, Keck B, Graf N, Reichrath J, Vogel B, Nebel A, Jager S, Staehler P, Amarantos I, Boisguerin V, Staehler C, Beier M, Scheffler M, Büchler MW, Wischhusen J, Haeusler S, Dietl J, Hofmann S, Lenhof HP, Schreiber S, Katus HA, Rottbauer W, Meder B, Hoheisel J, Franke A, Meese E. Toward the blood-borne miRNome of human diseases. Nature Methods 2011. Sep 4;8(10):841-3. doi: 10.1038/nmeth.1682

15 Meder B, Bergmann CE, Keller A, Just S, Katus HA, Hoefer IE, Buschmann IR. Quantification of Collateral Artery Growth by Automated Fluorescent Microsphere Perfusion. Int J Cardiol. 2011 May 20. [Epub ahead of print]

14 Meder B, Haas J, Keller A, Heid C, Just S, Borries A, Boisguerin V, Scharfenberger-Schmeer M, Stähler P, Beier M, Weichenhan D, Strom TM, Pfeufer A, Korn B, Katus HA, Rottbauer W. Targeted Next-Generation Sequencing for the Molecular Genetic Diagnostics of Cardiomyopathies. Circulation Cardiovascular Genetics  2011 Jan 20. [Epub ahead of print]

13 Meder B, Huttner IG, Sedaghat-Hamedani F, Just S, Dahme T, Frese KS, Vogel B, Köhler D, Kloos W, Rudloff J, Marquart S, Katus HA, Rottbauer W. PINCH proteins regulate cardiac contractility by modulating ILK-PKB signaling. Mol Cell Biol. 2011 Aug;31(16):3424-35. Epub 2011 Jun 13.

12 Meder B, Scholz EP, Hassel D, Wolff C, Just S, Berger IM, Patzel E, Karle C, Katus HA, Rottbauer W. Reconstitution of Defective Protein Trafficking Rescues Long-QT Syndrome in Zebrafish. Biochem Biophys Res Commun. 2011 May 6;408(2):218-24. Epub 2011 Mar 31.

11 Mulatero P, Tauber P, Zennaro MC, Monticone S, Lang K, Beuschlein F, Fischer E, Tizzani D, Pallauf A, Viola A, Amar L, Williams TA, Strom TM, Graf E, Bandulik S, Penton D, Plouin PF, Warth R, Allolio B, Jeunemaitre X, Veglio F, Reincke M. KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism. Hypertension. 2012 Feb;59(2):235-40. Epub 2011 Dec 27. PubMed PMID: 22203740.

10 Sibbing D*, Pfeufer A*, Perisic T*, Mannes AM, Fritz-Wolf K, Unwin S, Sinner MF, Gieger C, Gloeckner CJ, Wichmann HE, Kremmer E, Schäfer Z, Walch A, Hinterseer M, Näbauer M, Kääb S, Kastrati A, Schömig A, Meitinger T, Bornkamm GW, Conrad M, von Beckerath N. Mutations in the mitochondrial thioredoxin reductase gene TXNRD2 cause dilated cardiomyopathy. Eur Heart J. 2011 Jan 18. [Epub ahead of print]

9 Zimprich A, Benet-Pagès A, Struhal W, Graf E, Eck SH, Offman MN, Haubenberger D, Spielberger S, Schulte EC, Lichtner P, Rossle SC, Klopp N, Wolf E, Seppi K, Pirker W, Presslauer S, Mollenhauer B, Katzenschlager R, Foki T, Hotzy C, Reinthaler E, Harutyunyan A, Kralovics R, Peters A, Zimprich F, Brücke T, Poewe W, Auff E, Trenkwalder C, Rost B, Ransmayr G, Winkelmann J, Meitinger T, Strom TM. A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. Am J Hum Genet. 2011 Jul 15;89(1):168-75. PubMed PMID: 21763483; PubMed Central PMCID: PMC3135812.

2010

8 Meder B, Just S, Vogel B, Rudloff J, Gartner L, Dahme T, Huttner I, Zankl A, Katus HA, Rottbauer W. JunB-CBFß Signaling is essential to maintain sarcomeric Z-disc structure and when defective leads to heart failure. J Cell Science 2010, in press.

7 Meder B, Keller A, Vogel B, Haas J, Sedaghat F, Kayvanpour E, Just S, Borries A, Rudloff J, Leidinger P, Meese E, Katus HA, Rottbauer W. MicroRNA Signatures in Total Peripheral Blood as Novel Biomarkers for Acute Myocardial Infarction. Basic Res Cardiol. 2010 (online first, DOI 10.1007/s00395-010-0123-2)

6 Sotoodehnia N, Isaacs A, de Bakker PI, Dörr M, Newton-Cheh C, Nolte IM, van der Harst P, Müller M, Eijgelsheim M, Alonso A, Hicks AA, Padmanabhan S, Hayward C, Smith AV, Polasek O, Giovannone S, Fu J, Magnani JW, Marciante KD, Pfeufer A, .., Kääb S, Arking DE. Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. Nat Genet. 2010 Dec;42(12):1068-76. Epub 2010 Nov 14.

2009

5 Friedrichs F, Zugck C, Rauch GJ, Ivandic B, Weichenhan D, Müller-Bardorff M, Meder B, El Mokhtari NE, Regitz-Zagrosek V, Hetzer R, Schäfer A, Schreiber S, Chen J, Neuhaus I, Ji R, Siemers NO, Frey N, Rottbauer W, Katus HA, Stoll M. HBEGF, SRA1, and IK: Three co-segregating genes as determinants of cardiomyopathy. Genome Res. 2009 Mar;19(3):395-403

4 Hassel D, Dahme T, Erdmann J, Meder B, Huge A, Stoll M, Just S, Hess A, Ehlermann P, Weichenhan D, Grimmler M, Liptau H, Hetzer R, Regitz-Zagrosek V, Fischer C, Nürnberg P, Schunkert H, Katus HA, Rottbauer W. Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy. Nat Med. 2009 Nov;15(11):1281-8. Epub 2009 Nov 1

3 Vogel, B., B. Meder, S. Just, C. Laufer, I. Berger, S. Weber, H.A. Katus, and W. Rottbauer. (2009). In-vivo characterization of human dilated cardiomyopathy genes in zebrafish. Biochem Biophys Res Commun 2009; 390:516-522.

2008    

2 Hassel, D., E.P. Scholz, N. Trano, O. Friedrich, S. Just, B. Meder, D.L. Weiss, E. Zitron, S. Marquart, B. Vogel, C.A. Karle, G. Seemann, M.C. Fishman, H.A. Katus, and W. Rottbauer. Deficient zebrafish ether-a-go-go-related gene channel gating causes short-QT syndrome in zebrafish reggae mutants. Circulation. 117:866-875. 2008. 

1 Meder, B., H.A. Katus, and W. Rottbauer. (2008). Right into the heart of microRNA-133a. Genes Dev 22:3227-3231.