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Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy with Features of Left Ventricular Noncompaction

  • Robert Hastings
  • , Carin P. De Villiers
  • , Charlotte Hooper
  • , Liz Ormondroyd
  • , Alistair Pagnamenta
  • , Stefano Lise
  • , Silvia Salatino
  • , Samantha J L Knight
  • , Jenny C. Taylor
  • , Kate L. Thomson
  • , Linda Arnold
  • , Spyros D. Chatziefthimiou
  • , Petr V. Konarev
  • , Matthias Wilmanns
  • , Elisabeth Ehler
  • , Andrea Ghisleni
  • , Mathias Gautel
  • , Edward Blair
  • , Hugh Watkins
  • , Katja Gehmlich*
    • *Corresponding author for this work
  • European Molecular Biology Laboratory Hamburg
  • Russian Academy of Sciences
  • University of Oxford

Research output: Contribution to journal › Article › peer-review

63 Citations (Scopus)
271 Downloads (Pure)

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Biochemistry, Genetics and Molecular Biology