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Heterozygous variants of CLPB are a cause of severe congenital neutropenia.
Warren JT, Cupo RR, Wattanasirakul P, Spencer DH, Locke AE, Makaryan V, Bolyard AA, Kelley ML, Kingston NL, Shorter J, Bellanné-Chantelot C, Donadieu J, Dale DC, Link DC. Warren JT, et al. Blood. 2022 Feb 3;139(5):779-791. doi: 10.1182/blood.2021010762. Blood. 2022. PMID: 34115842 Free PMC article.
Neutropenia in glycogen storage disease Ib: outcomes for patients treated with granulocyte colony-stimulating factor.
Dale DC, Bolyard AA, Marrero T, Kelley ML, Makaryan V, Tran E, Leung J, Boxer LA, Kishnani PS, Austin S, Wanner C, Ferrecchia IA, Khalaf D, Maze D, Kurtzberg J, Zeidler C, Welte K, Weinstein DA. Dale DC, et al. Curr Opin Hematol. 2019 Jan;26(1):16-21. doi: 10.1097/MOH.0000000000000474. Curr Opin Hematol. 2019. PMID: 30451720 Free PMC article. Clinical Trial.
The diversity of mutations and clinical outcomes for ELANE-associated neutropenia.
Makaryan V, Zeidler C, Bolyard AA, Skokowa J, Rodger E, Kelley ML, Boxer LA, Bonilla MA, Newburger PE, Shimamura A, Zhu B, Rosenberg PS, Link DC, Welte K, Dale DC. Makaryan V, et al. Curr Opin Hematol. 2015 Jan;22(1):3-11. doi: 10.1097/MOH.0000000000000105. Curr Opin Hematol. 2015. PMID: 25427142 Free PMC article. Review.
TCIRG1-associated congenital neutropenia.
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. Makaryan V, et al. Among authors: kelley ml. Hum Mutat. 2014 Jul;35(7):824-7. doi: 10.1002/humu.22563. Epub 2014 May 21. Hum Mutat. 2014. PMID: 24753205 Free PMC article.
2,145 results