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Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion

Parvathy Venugopal, Peer Arts, Lucy C. Fox, Annet Simons, Devendra K. Hiwase, Peter G. Bardy, Annette Swift, David M. Ross, Lize F. D. van Vulpen, Arjan Buijs, Kelly L. Bolton, Bartlomiej Getta, Eliska Furlong, Tina Carter, Ingrid Krapels, Marlijn Hoeks, Adila Al Kindy, Farah Al Kindy, Sonja de Munnik, Pamela Evans, Mahalia S. B. Frank, Adam M. Bournazos, Sandra T. Cooper, Thuong Thi Ha, Matilda R. Jackson, Luis Arriola-Martinez, Kerry Phillips, Yvonne Brennan, Madhura Bakshi, Karen Ambler, Song Gao, Karin S. Kassahn, Rosalie Kenyon, Kevin Hung, Milena Babic, Alan McGovern, Lesley Rawlings, Cassandra Vakulin, Lucas Dejong, Rema Fathi, Simon McRae, Nicholas Myles, Dariusz Ladon, Marjolijn Jongmans, Roland P. Kuiper, Nicola K. Poplawski, Pasquale Barbaro, Piers Blombery, Anna L. Brown, Christopher N. Hahn, Hamish S. Scott
Journal: Blood Advances
Blood Adv (2024) 8 (13): 3437–3443.
https://doi.org/10.1182/bloodadvances.2023012331
Published: 2024
Includes: Supplemental data
Journal Articles

Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1 , GATA2 , and DDX41

Claire C. Homan, Michael W. Drazer, Kai Yu, David M. Lawrence, Jinghua Feng, Luis Arriola-Martinez, Matthew J. Pozsgai, Kelsey E. McNeely, Thuong Ha, Parvathy Venugopal, Peer Arts, Sarah L. King-Smith, Jesse Cheah, Mark Armstrong, Paul Wang, Csaba Bödör, 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 Rienhoff, Tim Ripperger, Rachael Schulte, Kiran Tawana, Elvira Velloso, Benedict Yan, Erika Kim, Raman Sood, Amy P. Hsu, Steven M. Holland, Kerry Phillips, Nicola K. Poplawski, Milena Babic, Andrew H. Wei, Cecily Forsyth, Helen Mar Fan, Ian D. Lewis, Julian Cooney, Rachel Susman, Lucy C. Fox, Piers Blombery, Deepak Singhal, Devendra Hiwase, Belinda Phipson, Andreas W. Schreiber, Christopher N. Hahn, Hamish S. Scott, Paul Liu, Lucy A. Godley, Anna L. Brown
Journal: Blood Advances
Blood Adv (2023) 7 (20): 6092–6107.
https://doi.org/10.1182/bloodadvances.2023010045
Published: 2023
Includes: Supplemental data
Journal Articles

RUNX1 -mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML

Anna L. Brown, Peer Arts, Catherine L. Carmichael, Milena Babic, Julia Dobbins, Chan-Eng Chong, Andreas W. Schreiber, Jinghua Feng, Kerry Phillips, Paul P. S. Wang, Thuong Ha, Claire C. Homan, Sarah L. King-Smith, Lesley Rawlings, Cassandra Vakulin, Andrew Dubowsky, Jessica Burdett, Sarah Moore, Grace McKavanagh, Denae Henry, Amanda Wells, Belinda Mercorella, Mario Nicola, Jeffrey Suttle, Ella Wilkins, Xiao-Chun Li, Joelle Michaud, Peter Brautigan, Ping Cannon, Meryl Altree, Louise Jaensch, Miriam Fine, Carolyn Butcher, Richard J. D’Andrea, Ian D. Lewis, Devendra K. Hiwase, Elli Papaemmanuil, Marshall S. Horwitz, Georges Natsoulis, Hugh Y. Rienhoff, Jr, Nigel Patton, Sally Mapp, Rachel Susman, Susan Morgan, Julian Cooney, Mark Currie, Uday Popat, Tilmann Bochtler, Shai Izraeli, Kenneth Bradstock, Lucy A. Godley, Alwin Krämer, Stefan Fröhling, Andrew H. Wei, Cecily Forsyth, Helen Mar Fan, Nicola K. Poplawski, Christopher N. Hahn, Hamish S. Scott
Journal: Blood Advances
Blood Adv (2020) 4 (6): 1131–1144.
https://doi.org/10.1182/bloodadvances.2019000901
Published: 2020
Includes: Supplemental data