A Restricted Repertoire of de Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

1. McEntagart, M.
2. Williamson, K.A.
3. Rainger, J.K.
4. Wheeler, A.
5. Seawright, A.
6. De Baere, E.
7. Verdin, H.
8. Bergendahl, L.T.
9. Quigley, A.
10. Rainger, J.
11. Dixit, A.
12. Sarkar, A.
13. López Laso, E.
14. Sanchez-Carpintero, R.
15. Barrio, J.
16. Bitoun, P.
17. Prescott, T.
18. Riise, R.
19. McKee, S.
20. Cook, J.
21. McKie, L.
22. Ceulemans, B.
23. Meire, F.
24. Temple, I.K.
25. Prieur, F.
26. Williams, J.
27. Clouston, P.
28. Németh, A.H.
29. Banka, S.
30. Bengani, H.
31. Handley, M.
32. Freyer, E.
33. Ross, A.
34. Van Heyningen, V.
35. Marsh, J.A.
36. Elmslie, F.
37. Fitzpatrick, D.R.
38. Show all authors +

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DOI: 10.1016/J.AJHG.2016.03.018 GOOGLE SCHOLAR lock_openOpen access editor

Data source: Scopus