Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications

  1. Erik Rosenhahn
  2. Thomas J. O’Brien
  3. Maha S. Zaki
  4. Ina Sorge
  5. Dagmar Wieczorek
  6. Kevin Rostasy
  7. Antonio Vitobello
  8. Sophie Nambot
  9. Fowzan S. Alkuraya
  10. Mais O. Hashem
  11. Amal Alhashem
  12. Brahim Tabarki
  13. Abdullah S. Alamri
  14. Ayat H. Al Safar
  15. Dalal K. Bubshait
  16. Nada F. Alahmady
  17. Joseph G. Gleeson
  18. Mohamed S. Abdel-Hamid
  19. Nicole Lesko
  20. Sofia Ygberg
  21. Sandrina P. Correia
  22. Anna Wredenberg
  23. Shahryar Alavi
  24. Seyed M. Seyedhassani
  25. Mahya Ebrahimi Nasab
  26. Haytham Hussien
  27. Tarek E.I. Omar
  28. Ines Harzallah
  29. Renaud Touraine
  30. Homa Tajsharghi
  31. Heba Morsy
  32. Henry Houlden
  33. Mohammad Shahrooei
  34. Maryam Ghavideldarestani
  35. Ghada M.H. Abdel-Salam
  36. Annalaura Torella
  37. Mariateresa Zanobio
  38. Gaetano Terrone
  39. Nicola Brunetti-Pierri
  40. Abdolmajid Omrani
  41. Julia Hentschel
  42. Johannes R. Lemke
  43. Heinrich Sticht
  44. Rami Abou Jamra
  45. Andre E.X. Brown
  46. Reza Maroofian
  47. Konrad Platzer
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  1. Version published to 10.1016/j.ajhg.2022.06.008
  2. Version published to 10.1101/2022.04.04.22273309 on medRxiv