Prospective, international, multisite comparison of platelet isolation techniques for genome-wide transcriptomics: communication from the SSC of the ISTH

Autor: Banerjee, Meenakshi, Rowley, Jesse W., Stubben, Chris J., Tolley, Neal D., Freson, Kathleen, Nelson, Benjamin, Nagy, Béla, Jr., Fejes, Zsolt, Blair, Antoinette M., Turro, Ernest, Gresele, Paolo, Taranta, Giulia Ciarrocca, Bury, Loredana, Falcinelli, Emanuela, Lordkipanidzé, Marie, Alessi, Marie-Christine, Johnson, Andrew D., Bakchoul, Tamam, Ramstrom, Sofia, Frontini, Mattia, Camera, Marina, Brambilla, Marta, Campbell, Robert A., Rondina, Matthew T.

Publikováno v: In Journal of Thrombosis and Haemostasis October 2024 22(10):2922-2934

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants

Autor: Stefanucci, Luca, Collins, Janine, Sims, Matthew C., Barrio-Hernandez, Inigo, Sun, Luanluan, Burren, Oliver S., Perfetto, Livia, Bender, Isobel, Callahan, Tiffany J., Fleming, Kathryn, Guerrero, Jose A., Hermjakob, Henning, Martin, Maria J., Stephenson, James, Paneerselvam, Kalpana, Petrovski, Slavé, Porras, Pablo, Robinson, Peter N., Wang, Quanli, Watkins, Xavier, Frontini, Mattia, Laskowski, Roman A., Beltrao, Pedro, Di Angelantonio, Emanuele, Gomez, Keith, Laffan, Mike, Ouwehand, Willem H., Mumford, Andrew D., Freson, Kathleen, Carss, Keren, Downes, Kate, Gleadall, Nick, Megy, Karyn, Bruford, Elspeth, Vuckovic, Dragana

Publikováno v: In Blood 14 December 2023 142(24):2055-2068

Non‐coding genetic variation in regulatory elements determines thrombosis and hemostasis phenotypes

Autor: Stefanucci, Luca, Frontini, Mattia ^*

Publikováno v: In Journal of Thrombosis and Haemostasis August 2022 20(8):1759-1765

Transcriptional characterization of human megakaryocyte polyploidization and lineage commitment

Autor: Choudry, Fizzah A., Bagger, Frederik O. ^*, Macaulay, Iain C., Farrow, Samantha, Burden, Frances, Kempster, Carly, McKinney, Harriet, Olsen, Lars R., Huang, Ni, Downes, Kate, Voet, Thierry, Uppal, Rakesh, Martin, John F., Mathur, Anthony, Ouwehand, Willem H., Laurenti, Elisa, Teichmann, Sarah A., Frontini, Mattia

Publikováno v: In Journal of Thrombosis and Haemostasis May 2021 19(5):1236-1249

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome

Autor: Sims, Matthew C. ^{1, 2, 3, *}, Mayer, Louisa ^{1, 2, *}, Collins, Janine H. ^{1, 1, 2, 4, *}, Bariana, Tadbir K. ^{1, 4, 5, *}, Megy, Karyn ^{1, 2, 6}, Lavenu-Bombled, Cecile ⁷, Seyres, Denis ^{1, 2, 6}, Kollipara, Laxmikanth ⁸, Burden, Frances S. ^{1, 2, 6}, Greene, Daniel ^{1, 6, 9}, Lee, Dave ¹⁰, Rodriguez-Romera, Antonio ^{1, 2}, Alessi, Marie-Christine ¹¹, Astle, William J. ^{2, 9}, Bahou, Wadie F. ¹², Bury, Loredana ¹³, Chalmers, Elizabeth ¹⁴, Da Silva, Rachael ¹⁰, De Candia, Erica ^{15, 16}, Deevi, Sri V.V. ^{1, 6}, Farrow, Samantha ^{1, 2, 6}, Gomez, Keith ⁵, Grassi, Luigi ^{1, 2, 6}, Greinacher, Andreas ¹⁷, Gresele, Paolo ¹³, Hart, Dan ¹⁸, Hurtaud, Marie-Françoise ⁷, Kelly, Anne M. ¹, Kerr, Ron ¹⁹, Le Quellec, Sandra ²⁰, Leblanc, Thierry ⁷, Leinøe, Eva B. ²¹, Mapeta, Rutendo ^{1, 6}, McKinney, Harriet ^{1, 2, 6}, Michelson, Alan D. ²², Morais, Sara ^{23, 24}, Nugent, Diane ²⁵, Papadia, Sofia ^{1, 2, 6}, Park, Soo J. ²⁶, Pasi, John ¹⁸, Podda, Gian Marco ²⁷, Poon, Man-Chiu ²⁸, Reed, Rachel ¹⁰, Sekhar, Mallika ²⁹, Shalev, Hanna ³⁰, Sivapalaratnam, Suthesh ^{1, 4}, Steinberg-Shemer, Orna ^{31, 32}, Stephens, Jonathan C. ^{1, 6}, Tait, Robert C. ³³, Turro, Ernest ^{1, 2, 6, 9}, Wu, John K.M. ³⁴, Zieger, Barbara ³⁵, Kuijpers, Taco W. ^{36, 37}, Whetton, Anthony D. ¹⁰, Sickmann, Albert ^{8, 38, 39}, Freson, Kathleen ⁴⁰, Downes, Kate ^{1, 6}, Erber, Wendy N. ^{41, 42}, Frontini, Mattia ^{1, 2, 43}, Nurden, Paquita ⁴⁴, Ouwehand, Willem H. ^{1, 2, 6, 45}, Favier, Remi ^{7, 46}, Guerrero, Jose A. ^{2, 1, 2}

Publikováno v: In Blood 22 October 2020 136(17):1956-1967