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Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome-Associated Cardiomyopathy.
Hanses U, Kleinsorge M, Roos L, Yigit G, Li Y, Barbarics B, El-Battrawy I, Lan H, Tiburcy M, Hindmarsh R, Lenz C, Salinas G, Diecke S, Müller C, Adham I, Altmüller J, Nürnberg P, Paul T, Zimmermann WH, Hasenfuss G, Wollnik B, Cyganek L. Hanses U, et al. Among authors: muller c. Circulation. 2020 Sep 15;142(11):1059-1076. doi: 10.1161/CIRCULATIONAHA.119.044794. Epub 2020 Jul 6. Circulation. 2020. PMID: 32623905
Biallelic variants in YRDC cause a developmental disorder with progeroid features.
Schmidt J, Goergens J, Pochechueva T, Kotter A, Schwenzer N, Sitte M, Werner G, Altmüller J, Thiele H, Nürnberg P, Isensee J, Li Y, Müller C, Leube B, Reinhardt HC, Hucho T, Salinas G, Helm M, Jachimowicz RD, Wieczorek D, Kohl T, Lehnart SE, Yigit G, Wollnik B. Schmidt J, et al. Among authors: muller c. Hum Genet. 2021 Dec;140(12):1679-1693. doi: 10.1007/s00439-021-02347-3. Epub 2021 Sep 20. Hum Genet. 2021. PMID: 34545459 Free PMC article.
Survey of germline variants in cancer-associated genes in young adults with colorectal cancer.
Mikaeel RR, Young JP, Li Y, Smith E, Horsnell M, Uylaki W, Tapia Rico G, Poplawski NK, Hardingham JE, Tomita Y, Townsend AR, Feng J, Zibat A, Kaulfuß S, Müller C, Yigit G, Wollnik B, Price TJ. Mikaeel RR, et al. Among authors: muller c. Genes Chromosomes Cancer. 2022 Feb;61(2):105-113. doi: 10.1002/gcc.23011. Epub 2021 Nov 18. Genes Chromosomes Cancer. 2022. PMID: 34761457
Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.
Paolacci S, Li Y, Agolini E, Bellacchio E, Arboleda-Bustos CE, Carrero D, Bertola D, Al-Gazali L, Alders M, Altmüller J, Arboleda G, Beleggia F, Bruselles A, Ciolfi A, Gillessen-Kaesbach G, Krieg T, Mohammed S, Müller C, Novelli A, Ortega J, Sandoval A, Velasco G, Yigit G, Arboleda H, Lopez-Otin C, Wollnik B, Tartaglia M, Hennekam RC. Paolacci S, et al. Among authors: muller c. J Med Genet. 2018 Dec;55(12):837-846. doi: 10.1136/jmedgenet-2018-105528. Epub 2018 Oct 15. J Med Genet. 2018. PMID: 30323018
RNF43 pathogenic Germline variant in a family with colorectal cancer.
Mikaeel RR, Young JP, Li Y, Poplawski NK, Smith E, Horsnell M, Uylaki W, Tomita Y, Townsend AR, Feng J, Zibat A, Kaulfuß S, Müller C, Yigit G, Wollnik B, Scott H, Rawlings L, Henry D, Vakulin C, Dubowsky A, Price TJ. Mikaeel RR, et al. Among authors: muller c. Clin Genet. 2022 Jan;101(1):122-126. doi: 10.1111/cge.14064. Epub 2021 Sep 27. Clin Genet. 2022. PMID: 34541672
Frequent mutations in chromatin-remodelling genes in pulmonary carcinoids.
Fernandez-Cuesta L, Peifer M, Lu X, Sun R, Ozretić L, Seidal D, Zander T, Leenders F, George J, Müller C, Dahmen I, Pinther B, Bosco G, Konrad K, Altmüller J, Nürnberg P, Achter V, Lang U, Schneider PM, Bogus M, Soltermann A, Brustugun OT, Helland Å, Solberg S, Lund-Iversen M, Ansén S, Stoelben E, Wright GM, Russell P, Wainer Z, Solomon B, Field JK, Hyde R, Davies MP, Heukamp LC, Petersen I, Perner S, Lovly C, Cappuzzo F, Travis WD, Wolf J, Vingron M, Brambilla E, Haas SA, Buettner R, Thomas RK. Fernandez-Cuesta L, et al. Among authors: muller c. Nat Commun. 2014 Mar 27;5:3518. doi: 10.1038/ncomms4518. Nat Commun. 2014. PMID: 24670920 Free PMC article.
Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer.
Peifer M, Fernández-Cuesta L, Sos ML, George J, Seidel D, Kasper LH, Plenker D, Leenders F, Sun R, Zander T, Menon R, Koker M, Dahmen I, Müller C, Di Cerbo V, Schildhaus HU, Altmüller J, Baessmann I, Becker C, de Wilde B, Vandesompele J, Böhm D, Ansén S, Gabler F, Wilkening I, Heynck S, Heuckmann JM, Lu X, Carter SL, Cibulskis K, Banerji S, Getz G, Park KS, Rauh D, Grütter C, Fischer M, Pasqualucci L, Wright G, Wainer Z, Russell P, Petersen I, Chen Y, Stoelben E, Ludwig C, Schnabel P, Hoffmann H, Muley T, Brockmann M, Engel-Riedel W, Muscarella LA, Fazio VM, Groen H, Timens W, Sietsma H, Thunnissen E, Smit E, Heideman DA, Snijders PJ, Cappuzzo F, Ligorio C, Damiani S, Field J, Solberg S, Brustugun OT, Lund-Iversen M, Sänger J, Clement JH, Soltermann A, Moch H, Weder W, Solomon B, Soria JC, Validire P, Besse B, Brambilla E, Brambilla C, Lantuejoul S, Lorimier P, Schneider PM, Hallek M, Pao W, Meyerson M, Sage J, Shendure J, Schneider R, Büttner R, Wolf J, Nürnberg P, Perner S, Heukamp LC, Brindle PK, Haas S, Thomas RK. Peifer M, et al. Among authors: muller c. Nat Genet. 2012 Oct;44(10):1104-10. doi: 10.1038/ng.2396. Epub 2012 Sep 2. Nat Genet. 2012. PMID: 22941188 Free PMC article.
Comprehensive genomic profiles of small cell lung cancer.
George J, Lim JS, Jang SJ, Cun Y, Ozretić L, Kong G, Leenders F, Lu X, Fernández-Cuesta L, Bosco G, Müller C, Dahmen I, Jahchan NS, Park KS, Yang D, Karnezis AN, Vaka D, Torres A, Wang MS, Korbel JO, Menon R, Chun SM, Kim D, Wilkerson M, Hayes N, Engelmann D, Pützer B, Bos M, Michels S, Vlasic I, Seidel D, Pinther B, Schaub P, Becker C, Altmüller J, Yokota J, Kohno T, Iwakawa R, Tsuta K, Noguchi M, Muley T, Hoffmann H, Schnabel PA, Petersen I, Chen Y, Soltermann A, Tischler V, Choi CM, Kim YH, Massion PP, Zou Y, Jovanovic D, Kontic M, Wright GM, Russell PA, Solomon B, Koch I, Lindner M, Muscarella LA, la Torre A, Field JK, Jakopovic M, Knezevic J, Castaños-Vélez E, Roz L, Pastorino U, Brustugun OT, Lund-Iversen M, Thunnissen E, Köhler J, Schuler M, Botling J, Sandelin M, Sanchez-Cespedes M, Salvesen HB, Achter V, Lang U, Bogus M, Schneider PM, Zander T, Ansén S, Hallek M, Wolf J, Vingron M, Yatabe Y, Travis WD, Nürnberg P, Reinhardt C, Perner S, Heukamp L, Büttner R, Haas SA, Brambilla E, Peifer M, Sage J, Thomas RK. George J, et al. Among authors: muller c. Nature. 2015 Aug 6;524(7563):47-53. doi: 10.1038/nature14664. Epub 2015 Jul 13. Nature. 2015. PMID: 26168399 Free PMC article.
Homoarginine levels are regulated by L-arginine:glycine amidinotransferase and affect stroke outcome: results from human and murine studies.
Choe CU, Atzler D, Wild PS, Carter AM, Böger RH, Ojeda F, Simova O, Stockebrand M, Lackner K, Nabuurs C, Marescau B, Streichert T, Müller C, Lüneburg N, De Deyn PP, Benndorf RA, Baldus S, Gerloff C, Blankenberg S, Heerschap A, Grant PJ, Magnus T, Zeller T, Isbrandt D, Schwedhelm E. Choe CU, et al. Among authors: muller c. Circulation. 2013 Sep 24;128(13):1451-61. doi: 10.1161/CIRCULATIONAHA.112.000580. Epub 2013 Sep 4. Circulation. 2013. PMID: 24004504
7,336 results