Publication Highlights
Desch KC, Ozel AB, Siemieniak D, Kalish Y, Shavit JA, Thornburg CD, Sharathkumar AA, McHugh CP, Laurie CC, Crenshaw A, Mirel DB, Kim Y, Cropp CD, Molloy AM, Kirke PN, Bailey-Wilson JE, Wilson AF, Mills JL, Scott JM, Brody LC, Li JZ, Ginsburg D. Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association. Proc Natl Acad Sci U S A. 2013 Jan 8;110(2):588–593. PMID: 23267103 PMCID: PMC3545809
Ma Q, Ozel AB, Ramdas S, McGee B, Khoriaty R, Siemieniak D, Li HD, Guan Y, Brody LC, Mills JL, Molloy AM, Ginsburg D, Li JZ, Desch KC. Genetic variants in PLG, LPA, and SIGLEC 14 as well as smoking contribute to plasma plasminogen levels. Blood. 2014 Nov 13;124(20):3155–3164. PMID: 25208887 PMCID: PMC4231423
Desch KC, Kretz C, Yee A, Gildersleeve R, Metzger K, Agrawal N, Cheng J, Ginsburg D. Probing ADAMTS13 substrate specificity using phage display. PLoS One. 2015;10(4):e0122931. PMID: 25849793 PMCID: PMC4388381
Kretz CA, Dai M, Soylemez O, Yee A, Desch KC, Siemieniak D, Tomberg K, Kondrashov FA, Meng F, Ginsburg D. Massively parallel enzyme kinetics reveals the substrate recognition landscape of the metalloprotease ADAMTS13. Proc Natl Acad Sci U S A. 2015 Jul 28;112(30):9328–9333. PMID: 26170332 PMCID: PMC4522773
Ma Q, Jacobi PM, Emmer BT, Kretz CA, Ozel AB, McGee B, Kimchi-Sarfaty C, Ginsburg D, Li JZ, Desch KC. Genetic variants in ADAMTS13 as well as smoking are major determinants of plasma ADAMTS13 levels. Blood Adv. 2017 Jun 27;1(15):1037–1046. PMID: 29296746 PMCID: PMC5728318
Sabater-Lleal M, Huffman JE, de Vries PS, Marten J, Mastrangelo MA, Song C, Pankratz N, Ward-Caviness CK, Yanek LR, Trompet S, Delgado GE, Guo X, Bartz TM, Martinez-Perez A, Germain M, de Haan HG, Ozel AB, Polasek O, Smith AV, Eicher JD, Reiner AP, Tang W, Davies NM, Stott DJ, Rotter JI, Tofler GH, Boerwinkle E, de Maat MPM, Kleber ME, Welsh P, Brody JA, Chen MH, Vaidya D, Soria JM, Suchon P, van Hylckama Vlieg A, Desch KC, Kolcic I, Joshi PK, Launer LJ, Harris TB, Campbell H, Rudan I, Becker DM, Li JZ, Rivadeneira F, Uitterlinden AG, Hofman A, Franco OH, Cushman M, Psaty BM, Morange PE, McKnight B, Chong MR, Fernandez-Cadenas I, Rosand J, Lindgren A, Gudnason V, Wilson JF, Hayward C, Ginsburg D, Fornage M, Rosendaal FR, Souto JC, Becker LC, Jenny NS, März W, Jukema JW, Dehghan A, Trégouët DA, Morrison AC, Johnson AD, O’Donnell CJ, Strachan DP, Lowenstein CJ, Smith NL. Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels. Circulation. 2019 Jan 29;139(5):620–635. PMID: 30586737 PMCID: PMC6438386
Desch KC, Ozel AB, Halvorsen M, Jacobi PM, Golden K, Underwood M, Germain M, Tregouet DA, Reitsma PH, Kearon C, Mokry L, Richards JB, Williams F, Li JZ, Goldstein D, Ginsburg D. Whole-exome sequencing identifies rare variants in STAB2 associated with venous thromboembolic disease. Blood. 2020 Jul 30;136(5):533–541. PMID: 32457982 PMCID: PMC7393257
Lin Z, King R, Tang V, Myers G, Balbin-Cuesta G, Friedman A, McGee B, Desch K, Ozel AB, Siemieniak D, Reddy P, Emmer B, Khoriaty R. The Endoplasmic Reticulum Cargo Receptor SURF4 Facilitates Efficient Erythropoietin Secretion. Mol Cell Biol. 2020 Nov 6;40(23). PMID: 32989016 PMCID: PMC7652404
Hindy G, Tyrrell DJ, Vasbinder A, Wei C, Presswalla F, Wang H, Blakely P, Ozel AB, Graham S, Holton GH, Dowsett J, Fahed AC, Amadi KM, Erne GK, Tekmulla A, Ismail A, Launius C, Sotoodehnia N, Pankow JS, Thørner LW, Erikstrup C, Pedersen OB, Banasik K, Brunak S, Ullum H, Eugen-Olsen J, Ostrowski SR; DBDS Consortium, Haas ME, Nielsen JB, Lotta LA; Regeneron Genetics Center, Engström G, Melander O, Orho-Melander M, Zhao L, Murthy VL, Pinsky DJ, Willer CJ, Heckbert SR, Reiser J, Goldstein DR, Desch KC, Hayek SS. Increased soluble urokinase plasminogen activator levels modulate monocyte function to promote atherosclerosis. [Co-senior author] J Clin Invest. 2022 Dec 15;132(24):e158788. PMID: 36194491.