Makaryan V, Rosenthal EA, Bolyard AA, Kelley ML, Below JE, Bamshad MJ, Bofferding KM, Smith JD, Buckingham K, Boxer LA, Skokowa J, Welte K, Nickerson DA, Jarvik GP, Dale DC; UW Center for Mendelian Genomics.
Hum Mutat. 2014 Jul;35(7):824-7. doi: 10.1002/humu.22563. Epub 2014 May 21.
PMID:24753205
Congenital neutropenia syndromes.
Boztug K, Welte K, Zeidler C, Klein C.
Immunol Allergy Clin North Am. 2008 May;28(2):259-75, vii-viii. doi: 10.1016/j.iac.2008.01.007.
PMID:18424332
A new severe congenital neutropenia syndrome associated with autosomal recessive COPZ1 mutations.
Borbaran Bravo N, Deordieva E, Doll L, ElGamacy M, Dannenmann B, Azevedo J, Iannuzzo A, Delafontaine S, Lehners M, Kolodziej M, Hernandez Alvarez B, Hellmuth AS, Ritter M, Findik B, Zakharova V, Bräuning S, Kandabarau S, Lengerke C, Feil R, Meyts I, Delon J, Templin M, Sturm M, Rieß O, Zeidler C, Welte K, Shcherbina A, Klimiankou M, Skokowa J.
Blood. 2025 May 15;145(20):2317-2335. doi: 10.1182/blood.2023022576.