Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus

A.E. Frazier, A.G. Compton, Y. Kishita, D.H. Hock, A.E. Welch, S.S.C. Amarasekera, R. Rius, L.E. Formosa, A. Imai-Okazaki, D. Francis, M. Wang, N.J. Lake, S. Tregoning, J.S. Jabbari, A. Lucattini, K.R. Nitta, A. Ohtake, K. Murayama, D.J. Amor, G. McGillivrayF.Y. Wong, M.S. van der Knaap, R.J. Vermeulen, E.J. Wiltshire, J.M. Fletcher, B. Lewis, G. Baynam, C. Ellaway, S. Balasubramaniam, K. Bhattacharya, M.L. Freckmann, S. Arbuckle, M. Rodriguez, R.J. Taft, S. Sadedin, M.J. Cowley, A.E. Minoche, S.E. Calvo, V.K. Mootha, M.T. Ryan, Y. Okazaki, D.A. Stroud, C. Simons*, J. Christodoulou*, D.R. Thorburn*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

6 Citations (Web of Science)
Original languageEnglish
Pages (from-to)49-73.e10
Number of pages35
JournalMed
Volume2
Issue number1
DOIs
Publication statusPublished - 15 Jan 2021

Keywords

  • COPY-NUMBER VARIANTS
  • COMPLEX I DEFICIENCY
  • GENOMIC DISORDERS
  • COMPUTATIONAL PLATFORM
  • MEMBRANE-PROTEIN
  • HIGH-THROUGHPUT
  • DNA
  • CHOLESTEROL
  • MUTATIONS
  • ARCHITECTURE

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