Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

  1. Gunning, A.C.
  2. Strucinska, K.
  3. Muñoz Oreja, M.
  4. Parrish, A.
  5. Caswell, R.
  6. Stals, K.L.
  7. Durigon, R.
  8. Durlacher-Betzer, K.
  9. Cunningham, M.H.
  10. Grochowski, C.M.
  11. Baptista, J.
  12. Tysoe, C.
  13. Baple, E.
  14. Lahiri, N.
  15. Homfray, T.
  16. Scurr, I.
  17. Armstrong, C.
  18. Dean, J.
  19. Fernandez Pelayo, U.
  20. Jones, A.W.E.
  21. Taylor, R.W.
  22. Misra, V.K.
  23. Yoon, W.H.
  24. Wright, C.F.
  25. Lupski, J.R.
  26. Spinazzola, A.
  27. Harel, T.
  28. Holt, I.J.
  29. Ellard, S.
  30. Show all authors +
Journal:
American Journal of Human Genetics

ISSN: 1537-6605 0002-9297

Year of publication: 2020

Volume: 106

Issue: 2

Pages: 272-279

Type: Article

DOI: 10.1016/J.AJHG.2020.01.007 GOOGLE SCHOLAR lock_openOpen access editor