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Simone Sanna-Cherchi
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Journal Articles

Coagulation Factor XII ( F12 ) Haploinsufficiency Is Protective Against Venous Thromboembolism

Amelia K Haj, David Paul, Sharjeel A Chaudhry, Harish Eswaran, Sophia Dhrolia, Sean J. Jurgens, Xin Wang, Lu-Chen Weng, Justine Ryu, Seung Hoan Choi, Satoshi Koyama, Simone Sanna-Cherchi, Wolfgang Bergmeier, Nigel Mackman, Patrick Ellinor, Steven Grover, Pavan K Bendapudi
Journal: Blood
Blood (2024) 144 (Supplement 1): 133.
https://doi.org/10.1182/blood-2024-209118
Published: 2024
Journal Articles

Rare Germline Loss-of-Function Variants in C1-Inhibitor ( SERPING1 ) Are Associated with Venous Thromboembolism in Population-Scale Sequencing Datasets

Alfonso Rodriguez Espada, Amelia K Haj, Sean J. Jurgens, Sharjeel A Chaudhry, Justine Ryu, Seung Hoan Choi, Harish Eswaran, Simone Sanna-Cherchi, Patrick Ellinor, Steven Grover, Pavan K Bendapudi
Journal: Blood
Blood (2024) 144 (Supplement 1): 1196.
https://doi.org/10.1182/blood-2024-207965
Published: 2024
Journal Articles

Leveraging Population-Scale Multiomic Datasets to Elucidate the Risk of Thrombosis Associated with Protein S ( PROS1 ) Deficiency

Sharjeel A Chaudhry, Amelia K Haj, Justine Ryu, Sean J. Jurgens, Alfonso Rodriguez Espada, Xin Wang, Seung Hoan Choi, Simone Sanna-Cherchi, Kenneth A Bauer, Patrick Ellinor, Pavan K Bendapudi
Journal: Blood
Blood (2024) 144 (Supplement 1): 17.
https://doi.org/10.1182/blood-2024-205805
Published: 2024
Journal Articles

Thrombosis risk in single- and double-heterozygous carriers of factor V Leiden and prothrombin G20210A in FinnGen and the UK Biobank

Clinical Trials & Observations
Justine Ryu, Joel T. Rämö, Sean J. Jurgens, Teemu Niiranen, Simone Sanna-Cherchi, Kenneth A. Bauer, Amelia Haj, Seung Hoan Choi, Aarno Palotie, Mark Daly, Patrick T. Ellinor, Pavan K. Bendapudi
Journal: Blood
Blood (2024) 143 (23): 2425–2432.
https://doi.org/10.1182/blood.2023023326
Published: 2024
Includes: Supplemental data
Journal Articles

Rare Germline Loss-of-Function Variants in HSP47 ( SERPINH1 ) Are Associated with an Intermediate Osteogenesis Imperfecta Phenotype Characterized By Atopic Inflammation and Increased Risk of Thrombosis

Amelia K Haj, Sean J. Jurgens, Xin Wang, Justine Ryu, Seung Hoan Choi, Steven P Grover, Simone Sanna-Cherchi, Alec A Schmaier, Patrick Ellinor, Pavan K Bendapudi
Journal: Blood
Blood (2023) 142 (Supplement 1): 3934.
https://doi.org/10.1182/blood-2023-189896
Published: 2023
Journal Articles

Protein Z ( PROZ ) Loss of Function Is Associated with Increased Risk of Ischemic Stroke in 416,767 UK Biobank Participants

Amelia K Haj, Sean J. Jurgens, Xin Wang, Justine Ryu, Seung Hoan Choi, Simone Sanna-Cherchi, Patrick Ellinor, Pavan K Bendapudi
Journal: Blood
Blood (2023) 142 (Supplement 1): 2611.
https://doi.org/10.1182/blood-2023-182861
Published: 2023
Journal Articles

Meta-Analysis of National-Level Genotyping Datasets to Determine the Risk of Thrombosis in Double Heterozygous Carriers of Factor V Leiden and the Prothrombin G20210A Mutation across 876,417 Individuals

Justine Ryu, Joel Rämö, Sean J. Jurgens, Teemu Niiranen, Aarno Palotie, Mark Daly, Simone Sanna-Cherchi, Patrick Ellinor, Kenneth A Bauer, Pavan K Bendapudi
Journal: Blood
Blood (2023) 142 (Supplement 1): 806.
https://doi.org/10.1182/blood-2023-187105
Published: 2023
Journal Articles

Coagulation Factor XII ( F12 ) Haploinsufficiency Is Protective Against Venous Thromboembolism in 415,921 Individuals

Amelia K Haj, Justine Ryu, Satoshi Koyama, Sean J. Jurgens, Xin Wang, Seung Hoan Choi, Sharjeel Chaudhry, Simone Sanna-Cherchi, Steven P Grover, Patrick Ellinor, Pavan K Bendapudi
Journal: Blood
Blood (2023) 142 (Supplement 1): 805.
https://doi.org/10.1182/blood-2023-189823
Published: 2023
Journal Articles

Clinical Consequences of Rare Germline Variation in Genes Associated with Coagulation across 451,958 Individuals

Justine Ryu, Amelia K Haj, Satoshi Koyama, Sean J. Jurgens, Simone Sanna-Cherchi, Patrick Ellinor, Pavan K Bendapudi
Journal: Blood
Blood (2023) 142 (Supplement 1): 3972.
https://doi.org/10.1182/blood-2023-186786
Published: 2023