Exome sequencing in suspected monogenic dyslipidemias

Maurizio Averna, Angelo Baldassare Cefalu', Deborah N. Farlow, Masa-Aki Kawashiri, Zuhier Awan, Daniel B. Larach, Jacques Genest, John J.P. Kastelein, Namrata Gupta, Hiroshi Mabuchi, M. Mahdi Motazacker, Gina M. Peloso, Rahul Deo, Catherine Boileau, Jorge F. Haller, Sigrid Fouchier, Nathan O. Stitziel, Marjorie Risman, Sekar Kathiresan, Mathilde VarretJay Shendure, Isabelle Ruel, G. Kees Hovingh, Jean-Pierre Rabès, Marianne Abifadel, Benjamin M. Neale, Clive R. Pullinger, Patrizia Tarugi, Atsushi Nohara, Deborah A. Nickerson, Daniel J. Rader, Stephen S. Rich, Mark J. Daly, Jorge F. Haller, Stacey Gabriel, Masakazu Yamagishi, Mason W. Freeman, John P. Kane, James G. Wilson, Hayato Tada, Davide Noto

Research output: Contribution to journalArticle

29 Citations (Scopus)

Abstract

Exome sequencing is a promising tool for gene mapping in Mendelian disorders. We used this technique in an attempt to identify novel genes underlying monogenic dyslipidemias.
Original languageEnglish
Pages (from-to)343-350
Number of pages8
JournalCIRCULATION. CARDIOVASCULAR GENETICS
Volume8
Publication statusPublished - 2015

All Science Journal Classification (ASJC) codes

  • Genetics
  • Cardiology and Cardiovascular Medicine
  • Genetics(clinical)

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  • Cite this

    Averna, M., Cefalu', A. B., Farlow, D. N., Kawashiri, M-A., Awan, Z., Larach, D. B., Genest, J., Kastelein, J. J. P., Gupta, N., Mabuchi, H., Motazacker, M. M., Peloso, G. M., Deo, R., Boileau, C., Haller, J. F., Fouchier, S., Stitziel, N. O., Risman, M., Kathiresan, S., ... Noto, D. (2015). Exome sequencing in suspected monogenic dyslipidemias. CIRCULATION. CARDIOVASCULAR GENETICS, 8, 343-350.