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Journal Articles

Somatic Mutational Landscape of Hereditary Hematopoietic Malignancies Associated with Germline Variants in RUNX1 , GATA2 and DDX41

Anna L. Brown, Claire Homan, Michael W. Drazer, Kai Yu, David Lawrence, Jinghua Feng, Luis Arriola-Martinez, Matthew Pozsgai, Kelsey McNeely, Thuong Ha, Parvathy Venugopal, Peer Arts, Sarah King-Smith, Jesse JC Cheah, Mark Armstrong, Csaba Bödör, Paul Wang, Alan B. Cantor, Mario Cazzola, Erin Degelman, Courtney D. DiNardo, Nicolas Duployez, Remi Favier, Stefan Fröhling, Ana Rio-Machin, Jeffery M. Klco, Alwin Krämer, Mineo Kurokawa, Joanne Lee, Luca Malcovati, Neil V Morgan, Georges Natsoulis, Carolyn Owen, Keyur P. Patel, Claude Preudhomme, Hana Raslova, Hugh Young Rienhoff, Jr., Tim Ripperger, Rachael Schulte, Kiran Tawana, Elvira Deolinda Rodrigues Pereira Velloso, Benedict Yan, Raman Sood, Amy Hsu, Steven M. Holland, Kerry Phillips, Nicola Poplawski, Milena Babic, Erika M Kwon Kim, Andrew H. Wei, Cecily Forsyth, Helen Mar Fan, Ian D Lewis, Julian Cooney, Rachel Susman, Lucy C Fox, Piers Blombery, Deepak Singhal, Devendra Hiwase, Andreas W Schreiber, Christopher N Hahn, Hamish S Scott, Paul P. Liu, Lucy A. Godley

Blood (2022) 140 (Supplement 1): 4030–4033.

https://doi.org/10.1182/blood-2022-167600

Published: 2022

Journal Articles

Inferring the dynamics of mutated hematopoietic stem and progenitor cells induced by IFNα in myeloproliferative neoplasms

Blood (2021) 138 (22): 2231–2243.

https://doi.org/10.1182/blood.2021010986

Published: 2021

Includes: Supplemental data

Journal Articles

CALR mutant protein rescues the response of MPL p.R464G variant associated with CAMT to eltrombopag

Francesca Basso-Valentina, Gabriel Levy, Leila N. Varghese, Myriam Oufadem, Benedicte Neven, Charlotte Boussard, Nathalie Balayn, Caroline Marty, William Vainchenker, Isabelle Plo, Paola Ballerini, Stefan N. Constantinescu, Remi Favier, Hana Raslova

Blood (2021) 138 (6): 480–485.

https://doi.org/10.1182/blood.2020010567

Published: 2021

Includes: Supplemental data

Journal Articles

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

Matthew C. Sims, Louisa Mayer, Janine H. Collins, Tadbir K. Bariana, Karyn Megy, Cecile Lavenu-Bombled, Denis Seyres, Laxmikanth Kollipara, Frances S. Burden, Daniel Greene, Dave Lee, Antonio Rodriguez-Romera, Marie-Christine Alessi, William J. Astle, Wadie F. Bahou, Loredana Bury, Elizabeth Chalmers, Rachael Da Silva, Erica De Candia, Sri V. V. Deevi, Samantha Farrow, Keith Gomez, Luigi Grassi, Andreas Greinacher, Paolo Gresele, Dan Hart, Marie-Françoise Hurtaud, Anne M. Kelly, Ron Kerr, Sandra Le Quellec, Thierry Leblanc, Eva B. Leinøe, Rutendo Mapeta, Harriet McKinney, Alan D. Michelson, Sara Morais, Diane Nugent, Sofia Papadia, Soo J. Park, John Pasi, Gian Marco Podda, Man-Chiu Poon, Rachel Reed, Mallika Sekhar, Hanna Shalev, Suthesh Sivapalaratnam, Orna Steinberg-Shemer, Jonathan C. Stephens, Robert C. Tait, Ernest Turro, John K. M. Wu, Barbara Zieger, NIHR BioResource, Taco W. Kuijpers, Anthony D. Whetton, Albert Sickmann, Kathleen Freson, Kate Downes, Wendy N. Erber, Mattia Frontini, Paquita Nurden, Willem H. Ouwehand, Remi Favier, Jose A. Guerrero

Blood (2020) 136 (17): 1956–1967.

https://doi.org/10.1182/blood.2019004776

Published: 2020

Includes: Supplemental data

Journal Articles

Germline mutations in the transcription factor IKZF5 cause thrombocytopenia

Blood (2019) 134 (23): 2070–2081.

https://doi.org/10.1182/blood.2019000782

Published: 2019

Includes: Supplemental data

Journal Articles

Disrupted filamin A/α IIb β 3 interaction induces macrothrombocytopenia by increasing RhoA activity

Alessandro Donada, Nathalie Balayn, Dominika Sliwa, Larissa Lordier, Valentina Ceglia, Francesco Baschieri, Cyril Goizet, Rémi Favier, Lucie Tosca, Gérard Tachdjian, Cecile V. Denis, Isabelle Plo, William Vainchenker, Najet Debili, Jean-Philippe Rosa, Marijke Bryckaert, Hana Raslova

Blood (2019) 133 (16): 1778–1788.

https://doi.org/10.1182/blood-2018-07-861427

Published: 2019

Includes: Supplemental data

Journal Articles

A mutation of the human EPHB2 gene leads to a major platelet functional defect

Blood (2018) 132 (19): 2067–2077.

https://doi.org/10.1182/blood-2018-04-845644

Published: 2018

Includes: Supplemental data

Journal Articles

Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice

Blood (2018) 132 (13): 1399–1412.

https://doi.org/10.1182/blood-2017-08-802769

Published: 2018

Includes: Supplemental data

Journal Articles

Nbeal2 interacts with Dock7, Sec16a, and Vac14

Louisa Mayer, Maria Jasztal, Mercedes Pardo, Salvadora Aguera de Haro, Janine Collins, Tadbir K. Bariana, Peter A. Smethurst, Luigi Grassi, Romina Petersen, Paquita Nurden, Rémi Favier, Lu Yu, Stuart Meacham, William J. Astle, Jyoti Choudhary, Wyatt W. Yue, Willem H. Ouwehand, Jose A. Guerrero

Blood (2018) 131 (9): 1000–1011.

https://doi.org/10.1182/blood-2017-08-800359

Published: 2018

Includes: Supplemental data

Journal Articles

An incomplete trafficking defect to the cell-surface leads to paradoxical thrombocytosis for human and murine MPL P106L

Fabrizia Favale, Kahia Messaoudi, Leila N. Varghese, Siham Boukour, Christian Pecquet, Vitalina Gryshkova, Jean Philippe Defour, Roxana-Irina Albu, Olivier Bluteau, Paola Ballerini, Guy Leverger, Isabelle Plo, Najet Debili, Hana Raslova, Remi Favier, Stefan N. Constantinescu, William Vainchenker

Blood (2016) 128 (26): 3146–3158.

https://doi.org/10.1182/blood-2016-06-722058

Published: 2016

Includes: Supplemental data

Journal Articles

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss

Blood (2016) 127 (23): 2903–2914.

https://doi.org/10.1182/blood-2015-10-675629

Published: 2016

Includes: Supplemental data

Journal Articles

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

Ilenia Simeoni, Jonathan C. Stephens, Fengyuan Hu, Sri V. V. Deevi, Karyn Megy, Tadbir K. Bariana, Claire Lentaigne, Sol Schulman, Suthesh Sivapalaratnam, Minka J. A. Vries, Sarah K. Westbury, Daniel Greene, Sofia Papadia, Marie-Christine Alessi, Antony P. Attwood, Matthias Ballmaier, Gareth Baynam, Emilse Bermejo, Marta Bertoli, Paul F. Bray, Loredana Bury, Marco Cattaneo, Peter Collins, Louise C. Daugherty, Rémi Favier, Deborah L. French, Bruce Furie, Michael Gattens, Manuela Germeshausen, Cedric Ghevaert, Anne C. Goodeve, Jose A. Guerrero, Daniel J. Hampshire, Daniel P. Hart, Johan W. M. Heemskerk, Yvonne M. C. Henskens, Marian Hill, Nancy Hogg, Jennifer D. Jolley, Walter H. Kahr, Anne M. Kelly, Ron Kerr, Myrto Kostadima, Shinji Kunishima, Michele P. Lambert, Ri Liesner, José A. López, Rutendo P. Mapeta, Mary Mathias, Carolyn M. Millar, Amit Nathwani, Marguerite Neerman-Arbez, Alan T. Nurden, Paquita Nurden, Maha Othman, Kathelijne Peerlinck, David J. Perry, Pawan Poudel, Pieter Reitsma, Matthew T. Rondina, Peter A. Smethurst, William Stevenson, Artur Szkotak, Salih Tuna, Christel van Geet, Deborah Whitehorn, David A. Wilcox, Bin Zhang, Shoshana Revel-Vilk, Paolo Gresele, Daniel B. Bellissimo, Christopher J. Penkett, Michael A. Laffan, Andrew D. Mumford, Augusto Rendon, Keith Gomez, Kathleen Freson, Willem H. Ouwehand, Ernest Turro

Blood (2016) 127 (23): 2791–2803.

https://doi.org/10.1182/blood-2015-12-688267

Published: 2016

Includes: Supplemental data

Journal Articles

Presence of atypical thrombopoietin receptor (MPL) mutations in triple-negative essential thrombocythemia patients

Blood (2016) 127 (3): 333–342.

https://doi.org/10.1182/blood-2015-07-661983

Published: 2016

Includes: Supplemental data

Journal Articles

Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome

Anne Rensing-Ehl, Ulrich Pannicke, Stefanie-Yvonne Zimmermann, Myriam Ricarda Lorenz, Benedicte Neven, Ilka Fuchs, Ulrich Salzer, Carsten Speckmann, Anne Strauss, Eberhard Maaβ, Benedicte Collet, Anselm Enders, Remi Favier, Marie Christine Alessi, Frederic Rieux-Laucat, Barbara Zieger, Klaus Schwarz, Stephan Ehl

Blood (2015) 126 (16): 1967–1969.

https://doi.org/10.1182/blood-2015-06-654145

Published: 2015

Journal Articles

Platelet glycoprotein VI binds to polymerized fibrin and promotes thrombin generation

Elmina Mammadova-Bach, Véronique Ollivier, Stéphane Loyau, Mathieu Schaff, Bénédicte Dumont, Rémi Favier, Geneviève Freyburger, Véronique Latger-Cannard, Bernhard Nieswandt, Christian Gachet, Pierre H. Mangin, Martine Jandrot-Perrus

Blood (2015) 126 (5): 683–691.

https://doi.org/10.1182/blood-2015-02-629717

Published: 2015

Includes: Multimedia, Supplemental data

Journal Articles

Level of RUNX1 activity is critical for leukemic predisposition but not for thrombocytopenia

Blood (2015) 125 (6): 930–940.

https://doi.org/10.1182/blood-2014-06-585513

Published: 2015

Includes: Supplemental data

Journal Articles

Mutations in Tropomyosin 4 Cause Macrothrombocytopenia in Mice and Humans

Irina Pleines, PhD, Joanne Woods, PhD, Ernest Turro, PhD, Nicola Foad, PhD, Stephane Chappaz, PhD, Rachael M. Lane, Harriet Manning, Galina Schevzov, PhD, Sarah K Westbury, Andrew D Mumford, Remi Favier, MD, Peter Gunning, PhD, Willem H. Ouwehand, MDPhDFRCPath FMedSci #, Marloes R Tijssen, PhD, Benjamin T Kile, PhD

Blood (2014) 124 (21): 571.

https://doi.org/10.1182/blood.V124.21.571.571

Published: 2014

Journal Articles

A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene

Vladimir T. Manchev, Morgane Hilpert, Eliane Berrou, Ziane Elaib, Achille Aouba, Siham Boukour, Sylvie Souquere, Gerard Pierron, Philippe Rameau, Robert Andrews, François Lanza, Regis Bobe, William Vainchenker, Jean-Philippe Rosa, Marijke Bryckaert, Najet Debili, Remi Favier, Hana Raslova

Blood (2014) 124 (16): 2554–2563.

https://doi.org/10.1182/blood-2014-01-551820

Published: 2014

Includes: Supplemental data

Journal Articles

Germ-line JAK2 mutations in the kinase domain are responsible for hereditary thrombocytosis and are resistant to JAK2 and HSP90 inhibitors

Caroline Marty, Cécile Saint-Martin, Christian Pecquet, Sarah Grosjean, Joseph Saliba, Céline Mouton, Emilie Leroy, Ashot S. Harutyunyan, Jean-François Abgrall, Rémi Favier, Aurélie Toussaint, Eric Solary, Robert Kralovics, Stefan N. Constantinescu, Albert Najman, William Vainchenker, Isabelle Plo, Christine Bellanné-Chantelot

Blood (2014) 123 (9): 1372–1383.

https://doi.org/10.1182/blood-2013-05-504555

Published: 2014

Includes: Supplemental data

Journal Articles

ANKRD26 -related thrombocytopenia and myeloid malignancies

Blood (2013) 122 (11): 1987–1989.

https://doi.org/10.1182/blood-2013-04-499319

Published: 2013

NARROW

Somatic Mutational Landscape of Hereditary Hematopoietic Malignancies Associated with Germline Variants in RUNX1 , GATA2 and DDX41

Inferring the dynamics of mutated hematopoietic stem and progenitor cells induced by IFNα in myeloproliferative neoplasms

CALR mutant protein rescues the response of MPL p.R464G variant associated with CAMT to eltrombopag

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

Germline mutations in the transcription factor IKZF5 cause thrombocytopenia

Disrupted filamin A/α IIb β 3 interaction induces macrothrombocytopenia by increasing RhoA activity

A mutation of the human EPHB2 gene leads to a major platelet functional defect

Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice

Nbeal2 interacts with Dock7, Sec16a, and Vac14

An incomplete trafficking defect to the cell-surface leads to paradoxical thrombocytosis for human and murine MPL P106L

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

Presence of atypical thrombopoietin receptor (MPL) mutations in triple-negative essential thrombocythemia patients

Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome

Platelet glycoprotein VI binds to polymerized fibrin and promotes thrombin generation

Level of RUNX1 activity is critical for leukemic predisposition but not for thrombocytopenia

Mutations in Tropomyosin 4 Cause Macrothrombocytopenia in Mice and Humans

A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene

Germ-line JAK2 mutations in the kinase domain are responsible for hereditary thrombocytosis and are resistant to JAK2 and HSP90 inhibitors

ANKRD26 -related thrombocytopenia and myeloid malignancies

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American Society of Hematology

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ASH Publications

American Society of Hematology

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