המאמר של קבוצה מירושליים פורסם באפרילBlood. 2013 Apr 22. [Epub ahead of print] The Thr224Asn mutation in the VPS45 gene is associated with congenital neutropenia and primary myelofibrosis of infancy.Stepensky P, Saada A, Cowan M, Tabib A, Fischer U, Berkun Y, Saleh H, Simanovsky N, Kogot-Levin A, Weintraub M, Ganaiem H, Shaag A, Zenvirt S, Borkhardt A, Elpeleg O, Bryant NJ, Mevorach D.
המאמר של סומך פורסם יותר מאוחר ביוניN Engl J Med. 2013 Jun 5. [Epub ahead of print]
A Congenital Neutrophil Defect Syndrome Associated with Mutations in VPS45.
Vilboux T, Lev A, Malicdan MC, Simon AJ, Järvinen P, Racek T, Puchalka J, Sood R, Carrington B, Bishop K, Mullikin J, Huizing M, Garty BZ, Eyal E, Wolach B, Gavrieli R, Toren A, Soudack M, Atawneh OM, Babushkin T, Schiby G, Cullinane A, Avivi C, Polak-Charcon S, Barshack I, Amariglio N, Rechavi G, van der Werff Ten Bosch J, Anikster Y, Klein C, Gahl WA, Somech R.