An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

  1. Choufani, S.
  2. McNiven, V.
  3. Cytrynbaum, C.
  4. Jangjoo, M.
  5. Adam, M.P.
  6. Bjornsson, H.T.
  7. Harris, J.
  8. Dyment, D.A.
  9. Graham, G.E.
  10. Nezarati, M.M.
  11. Aul, R.B.
  12. Castiglioni, C.
  13. Breckpot, J.
  14. Devriendt, K.
  15. Stewart, H.
  16. Banos-Pinero, B.
  17. Mehta, S.
  18. Sandford, R.
  19. Dunn, C.
  20. Mathevet, R.
  21. van Maldergem, L.
  22. Piard, J.
  23. Brischoux-Boucher, E.
  24. Vitobello, A.
  25. Faivre, L.
  26. Bournez, M.
  27. Tran-Mau, F.
  28. Maystadt, I.
  29. Fernández-Jaén, A.
  30. Alvarez, S.
  31. García-Prieto, I.D.
  32. Alkuraya, F.S.
  33. Alsaif, H.S.
  34. Rahbeeni, Z.
  35. El-Akouri, K.
  36. Al-Mureikhi, M.
  37. Spillmann, R.C.
  38. Shashi, V.
  39. Sanchez-Lara, P.A.
  40. Graham, J.M.
  41. Roberts, A.
  42. Chorin, O.
  43. Evrony, G.D.
  44. Kraatari-Tiri, M.
  45. Dudding-Byth, T.
  46. Richardson, A.
  47. Hunt, D.
  48. Hamilton, L.
  49. Dyack, S.
  50. Mendelsohn, B.A.
  51. Rodríguez, N.
  52. Sánchez-Martínez, R.
  53. Tenorio-Castaño, J.
  54. Nevado, J.
  55. Lapunzina, P.
  56. Tirado, P.
  57. Carminho Amaro Rodrigues, M.-T.
  58. Quteineh, L.
  59. Innes, A.M.
  60. Kline, A.D.
  61. Au, P.Y.B.
  62. Weksberg, R.
  63. Show all authors +
Journal:
American Journal of Human Genetics

ISSN: 1537-6605,  0002-9297

Year of publication: 2022

Volume: 109

Issue: 10

Pages: 1867-1884

Type: Article

DOI: 10.1016/J.AJHG.2022.08.014 GOOGLE SCHOLAR lock_openOpen access editor
Data source: Scopus