Featured publications

Single-cell transcriptional analysis of human endothelial colony-forming cells from patients with low VWF levels

April 7, 2022

Ng CJ, Liu A, Venkataraman S, Ashworth KJ, Baker CD, O’Rourke R, Vibhakar R, Jones KL, Di Paola J. Single-cell transcriptional analysis of human endothelial colony-forming cells from patients with low VWF levels. Blood. 2022 Apr 7;139(14):2240-2251. doi: 10.1182/blood.2021010683. PMID: 35143643; PMCID: PMC8990376.

ETV6 germline mutations cause HDAC3/NCOR2 mislocalization and upregulation of interferon response genes

September 17, 2020

Fisher MH, Kirkpatrick GD, Stevens B, Jones C, Callaghan M, Rajpurkar M, Fulbright J, Cooper MA, Rowley J, Porter CC, Gutierrez-Hartmann A, Jones K, Jordan C, Pietras EM, Di Paola J. ETV6 germline mutations cause HDAC3/NCOR2 mislocalization and upregulation of interferon response genes. JCI Insight. 2020 Sep 17;5(18):e140332. doi: 10.1172/jci.insight.140332. PMID: 32841218; PMCID: PMC7526537.

TNF-α-driven inflammation and mitochondrial dysfunction define the platelet hyperreactivity of aging

August 29, 2019

Davizon-Castillo P, McMahon B, Aguila S, Bark D, Ashworth K, Allawzi A, Campbell RA, Montenont E, Nemkov T, D’Alessandro A, Clendenen N, Shih L, Sanders NA, Higa K, Cox A, Padilla-Romo Z, Hernandez G, Wartchow E, Trahan GD, Nozik-Grayck E, Jones K, Pietras EM, DeGregori J, Rondina MT, Di Paola J. TNF-α-driven inflammation and mitochondrial dysfunction define the platelet hyperreactivity of aging. Blood. 2019 Aug 29;134(9):727-740. doi: 10.1182/blood.2019000200. Epub 2019 Jul 16. PMID: 31311815; PMCID: PMC6716075.

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia

May 1, 2015

Noetzli L, Lo RW, Lee-Sherick AB, Callaghan M, Noris P, Savoia A, Rajpurkar M, Jones K, Gowan K, Balduini C, Pecci A, Gnan C, De Rocco D, Doubek M, Li L, Lu L, Leung R, Landolt-Marticorena C, Hunger S, Heller P, Gutierrez-Hartmann A, Xiayuan L, Pluthero FG, Rowley JW, Weyrich AS, Kahr WHA, Porter CC, Di Paola J. Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia. Nat Genet. 2015 May;47(5):535-538. doi: 10.1038/ng.3253. Epub 2015 Mar 25. PMID: 25807284; PMCID: PMC4631613.

Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome

July 17, 2011

Kahr WH, Hinckley J, Li L, Schwertz H, Christensen H, Rowley JW, Pluthero FG, Urban D, Fabbro S, Nixon B, Gadzinski R, Storck M, Wang K, Ryu GY, Jobe SM, Schutte BC, Moseley J, Loughran NB, Parkinson J, Weyrich AS, Di Paola J. Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. Nat Genet. 2011 Jul 17;43(8):738-40. doi: 10.1038/ng.884. PMID: 21765413; PMCID: PMC6050511.

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