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Journal Articles

Not dead yet: GWAS insights into a common bleeding disorder

Karl C. Desch

Blood (2025) 146 (6): 657–658.

https://doi.org/10.1182/blood.2025029543

Published: 2025

Journal Articles

A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels

Paul S. de Vries, Paula Reventun, Michael R. Brown, Adam S. Heath, Jennifer E. Huffman, Ngoc-Quynh Le, Allison Bebo, Jennifer A. Brody, Gerard Temprano-Sagrera, Laura M. Raffield, Ayse Bilge Ozel, Florian Thibord, Deepti Jain, Joshua P. Lewis, Benjamin A. T. Rodriguez, Nathan Pankratz, Kent D. Taylor, Ozren Polasek, Ming-Huei Chen, Lisa R. Yanek, German D. Carrasquilla, Riccardo E. Marioni, Marcus E. Kleber, David-Alexandre Trégouët, Jie Yao, Ruifang Li-Gao, Peter K. Joshi, Stella Trompet, Angel Martinez-Perez, Mohsen Ghanbari, Tom E. Howard, Alex P. Reiner, Marios Arvanitis, Kathleen A. Ryan, Traci M. Bartz, Igor Rudan, Nauder Faraday, Allan Linneberg, Lynette Ekunwe, Gail Davies, Graciela E. Delgado, Pierre Suchon, Xiuqing Guo, Frits R. Rosendaal, Lucija Klaric, Raymond Noordam, Frank van Rooij, Joanne E. Curran, Marsha M. Wheeler, William O. Osburn, Jeffrey R. O'Connell, Eric Boerwinkle, Andrew Beswick, Bruce M. Psaty, Ivana Kolcic, Juan Carlos Souto, Lewis C. Becker, Torben Hansen, Margaret F. Doyle, Sarah E. Harris, Angela P. Moissl, Jean-François Deleuze, Stephen S. Rich, Astrid van Hylckama Vlieg, Harry Campbell, David J. Stott, Jose Manuel Soria, Moniek P. M. de Maat, Laura Almasy, Lawrence C. Brody, Paul L. Auer, Braxton D. Mitchell, Yoav Ben-Shlomo, Myriam Fornage, Caroline Hayward, Rasika A. Mathias, Tuomas O. Kilpeläinen, Leslie A. Lange, Simon R. Cox, Winfried März, Pierre-Emmanuel Morange, Jerome I. Rotter, Dennis O. Mook-Kanamori, James F. Wilson, Pim van der Harst, J. Wouter Jukema, M. Arfan Ikram, John Blangero, Charles Kooperberg, Karl C. Desch, Andrew D. Johnson, Maria Sabater-Lleal, Charles J. Lowenstein, Nicholas L. Smith, Alanna C. Morrison

Blood (2024) 143 (18): 1845–1855.

https://doi.org/10.1182/blood.2023021452

Published: 2024

Includes: Supplemental data

Journal Articles

Whole-exome sequencing identifies rare variants in STAB2 associated with venous thromboembolic disease

Karl C. Desch, Ayse B. Ozel, Matt Halvorsen, Paula M. Jacobi, Krista Golden, Mary Underwood, Marine Germain, David-Alexandre Tregouet, Pieter H. Reitsma, Clive Kearon, Lauren Mokry, J. Brent Richards, Frances Williams, Jun Z. Li, David Goldstein, David Ginsburg

Blood (2020) 136 (5): 533–541.

https://doi.org/10.1182/blood.2019004161

Published: 2020

Includes: Supplemental data

Journal Articles

Exome Sequencing in Venous Thromboembolic Disease Identifies Excess Mutation Burden in PROS1, PROC, SERPINC1 and STAB2

Karl C. Desch, MD, Ayse Bilge Ozel, PhD, Matt Halvorsen, PhD, Paula M. Jacobi, Marine Germain, PhD, David Alexandre Tregouet, PhD, Pieter H. Reitsma, David Goldstein, PhD, David Ginsburg, MD

Blood (2016) 128 (22): 3794.

https://doi.org/10.1182/blood.V128.22.3794.3794

Published: 2016

Journal Articles

Complex Relationship of Blood Group H, ABO Glycans, and Von Willebrand Factor Levels

Andy Itsara, MDPhD, Jill M. Johnsen, MD, Kerry W Lannert, Katherine Odem-Davis, PhD, Ayse Bilge Ozel, PhD, Karl C. Desch, MD, Thomas Walsh, BS

Blood (2015) 126 (23): 2242.

https://doi.org/10.1182/blood.V126.23.2242.2242

Published: 2015

Journal Articles

Variants in ADAMTS13 and Smoking Contribute to Plasma ADAMTS13 Level Variation

Karl C. Desch, MD, Qianyi Ma, PhD, Ayse Bilge Ozel, PhD, Beth M McGee, David R Siemieniak, BS, Jun Z Li, PhD, David Ginsburg, MD

Blood (2014) 124 (21): 2835.

https://doi.org/10.1182/blood.V124.21.2835.2835

Published: 2014

Journal Articles

Genetic variants in PLG , LPA , and SIGLEC 14 as well as smoking contribute to plasma plasminogen levels

Qianyi Ma, Ayse B. Ozel, Shweta Ramdas, Beth McGee, Rami Khoriaty, David Siemieniak, Hong-Dong Li, Yuanfang Guan, Lawrence C. Brody, James L. Mills, Anne M. Molloy, David Ginsburg, Jun Z. Li, Karl C. Desch

Blood (2014) 124 (20): 3155–3164.

https://doi.org/10.1182/blood-2014-03-560086

Published: 2014

Includes: Supplemental data

Journal Articles

Genetic Variants In PLG and SIGLEC14 Contribute To Plasma Plasminogen Level Variation

Karl C. Desch, MD, Qianyi Ma, PhD, Ayse Bilge Ozel, PhD, Rami Khoriaty, MD, Beth M McGee, David Siemieniak, Jun Z Li, PhD, David Ginsburg, MD

Blood (2013) 122 (21): 2335.

https://doi.org/10.1182/blood.V122.21.2335.2335

Published: 2013

Journal Articles

SNP Analysis Of The VWF GENE Identifies Multiple Common Variants THAT Affect VWF Levels and OCCUR At Different Frequencies In Patients With TYPE 1 VWD

Jesse Hinckley, PhD, Trudy Burns, PhD, Kai Wang, PhD, Ayse Bilge Ozel, PhD, Meadow Heiman, Amy Shapiro, MD, Robert R. Montgomery, MD, Lawrence Brody, PhD, Karl C. Desch, MD, Jorge Di Paola, MD

Blood (2013) 122 (21): 334.

https://doi.org/10.1182/blood.V122.21.334.334

Published: 2013

Journal Articles

Genetic Determinants of Plasma Von Willebrand Factor (VWF) and VWF Propeptide Levels

Karl C. Desch, MD, Ayse Bilge Ozel, PhD, David R Siemieniak, BS, Jun Z Li, PhD, David Ginsburg, MD

Blood (2012) 120 (21): 3313.

https://doi.org/10.1182/blood.V120.21.3313.3313

Published: 2012

Journal Articles

Variation of Both Blood Group H and ABO Glycans Is Associated with VWF Levels

Jill M. Johnsen, MD, Kerry W Lannert, Ermias Yohannes, Xiomara Castillo, Karl C. Desch, MD

Blood (2012) 120 (21): 3314.

https://doi.org/10.1182/blood.V120.21.3314.3314

Published: 2012

Journal Articles

Discrepancies Between ABO Genotype and ABO Glycan Phenotypes

Jill M. Johnsen, MD, Karl C. Desch, MD, Ayse Bilge Ozel, PhD, Kerry W Lannert, Xiomara Castillo, David Siemieniak, David Ginsburg, MD

Blood (2012) 120 (21): 274.

https://doi.org/10.1182/blood.V120.21.274.274

Published: 2012

Journal Articles

Shigatoxin Triggers Thrombotic Thrombocytopenic Purpura in Genetically Susceptible ADAMTS13-Deficient Mice.

David G. Motto, MD, PhD, Anil K. Chauhan, PhD, Guojing Zhu, Jonathon Homeister, MD, PhD, Colin B. Lamb, Karl C. Desch, MD, Han-Mou Tsai, MD, Denisa D. Wagner, PhD, David Ginsburg, MD

Blood (2005) 106 (11): 723.

https://doi.org/10.1182/blood.V106.11.723.723

Published: 2005

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Not dead yet: GWAS insights into a common bleeding disorder

A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels

Whole-exome sequencing identifies rare variants in STAB2 associated with venous thromboembolic disease

Exome Sequencing in Venous Thromboembolic Disease Identifies Excess Mutation Burden in PROS1, PROC, SERPINC1 and STAB2

Complex Relationship of Blood Group H, ABO Glycans, and Von Willebrand Factor Levels

Variants in ADAMTS13 and Smoking Contribute to Plasma ADAMTS13 Level Variation

Genetic variants in PLG , LPA , and SIGLEC 14 as well as smoking contribute to plasma plasminogen levels

Genetic Variants In PLG and SIGLEC14 Contribute To Plasma Plasminogen Level Variation

SNP Analysis Of The VWF GENE Identifies Multiple Common Variants THAT Affect VWF Levels and OCCUR At Different Frequencies In Patients With TYPE 1 VWD

Genetic Determinants of Plasma Von Willebrand Factor (VWF) and VWF Propeptide Levels

Variation of Both Blood Group H and ABO Glycans Is Associated with VWF Levels

Discrepancies Between ABO Genotype and ABO Glycan Phenotypes

Shigatoxin Triggers Thrombotic Thrombocytopenic Purpura in Genetically Susceptible ADAMTS13-Deficient Mice.

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