Hereditary platelet disorders associated with germ line variants in RUNX1, ETV6, and ANKRD26

por Homan, Claire C., Scott, Hamish S., Brown, Anna L.
Publicado 2023

Transcription factor genetics and biology in predisposition to bone marrow failure and hematological malignancy

por Zerella, Jiarna R., Homan, Claire C., Arts, Peer, Brown, Anna L., Scott, Hamish S., Hahn, Christopher N.
Publicado 2023

Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females

por Jackson, Matilda R, Loring, Karagh E, Homan, Claire C, Thai, Monica HN, Määttänen, Laura, Arvio, Maria, Jarvela, Irma, Shaw, Marie, Gardner, Alison, Gecz, Jozef, Shoubridge, Cheryl
Publicado 2019

Pcdh19 Loss-of-Function Increases Neuronal Migration In Vitro but is Dispensable for Brain Development in Mice

por Pederick, Daniel T., Homan, Claire C., Jaehne, Emily J., Piltz, Sandra G., Haines, Bryan P., Baune, Bernhard T., Jolly, Lachlan A., Hughes, James N., Gecz, Jozef, Thomas, Paul Q.
Publicado 2016

Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ERα)

por Pham, Duyen H., Tan, Chuan C., Homan, Claire C., Kolc, Kristy L., Corbett, Mark A., McAninch, Dale, Fox, Archa H., Thomas, Paul Q., Kumar, Raman, Gecz, Jozef
Publicado 2017

GATA2 deficiency syndrome: A decade of discovery

por Homan, Claire C., Venugopal, Parvathy, Arts, Peer, Shahrin, Nur H., Feurstein, Simone, Rawlings, Lesley, Lawrence, David M., Andrews, James, King‐Smith, Sarah L., Harvey, Natasha L., Brown, Anna L., Scott, Hamish S., Hahn, Christopher N.
Publicado 2021

Zinc and Zinc Transporters in Macrophages and Their Roles in Efferocytosis in COPD

por Hamon, Rhys, Homan, Claire C., Tran, Hai B., Mukaro, Violet R., Lester, Susan E., Roscioli, Eugene, Bosco, Mariea D., Murgia, Chiara M., Ackland, Margaret Leigh, Jersmann, Hubertus P., Lang, Carol, Zalewski, Peter D., Hodge, Sandra J.
Publicado 2014

Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies

por Saygin, Caner, Roloff, Gregory, Hahn, Christopher N., Chhetri, Rakchha, Gill, Saar, Elmariah, Hany, Talati, Chetasi, Nunley, Emma, Gao, Guimin, Kim, Aelin, Bishop, Michael, Kosuri, Satyajit, Das, Soma, Singhal, Deepak, Venugopal, Parvathy, Homan, Claire C., Brown, Anna, Scott, Hamish S., Hiwase, Devendra, Godley, Lucy A.
Publicado 2022

Clonal hematopoiesis in patients with ANKRD26 or ETV6 germline mutations

por Drazer, Michael W., Homan, Claire C., Yu, Kai, Cavalcante de Andrade Silva, Marcela, McNeely, Kelsey E., Pozsgai, Matthew J., Acevedo-Mendez, Maria G., Segal, Jeremy P., Wang, Peng, Feng, Jinghua, King-Smith, Sarah L., Kim, Erika, Korotev, Sophia, Lawrence, David M., Schreiber, Andreas W., Hahn, Christopher N., Scott, Hamish S., Sood, Raman, Velloso, Elvira D.R.P., Brown, Anna L., Liu, Paul P., Godley, Lucy A.
Publicado 2022

The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy

por Homan, Claire C., King-Smith, Sarah L., Lawrence, David M., Arts, Peer, Feng, Jinghua, Andrews, James, Armstrong, Mark, Ha, Thuong, Dobbins, Julia, Drazer, Michael W., Yu, Kai, Bödör, Csaba, Cantor, Alan, Cazzola, Mario, Degelman, Erin, DiNardo, Courtney D., Duployez, Nicolas, Favier, Remi, Fröhling, Stefan, Fitzgibbon, Jude, Klco, Jeffery M., Krämer, Alwin, Kurokawa, Mineo, Lee, Joanne, Malcovati, Luca, Morgan, Neil V., Natsoulis, Georges, Owen, Carolyn, Patel, Keyur P., Preudhomme, Claude, Raslova, Hana, Rienhoff, Hugh, Ripperger, Tim, Schulte, Rachael, Tawana, Kiran, Velloso, Elvira, Yan, Benedict, Liu, Paul, Godley, Lucy A., Schreiber, Andreas W., Hahn, Christopher N., Scott, Hamish S., Brown, Anna L.
Publicado 2021

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

por Homan, Claire C., Drazer, Michael W., Yu, Kai, Lawrence, David M., Feng, Jinghua, Arriola-Martinez, Luis, Pozsgai, Matthew J., McNeely, Kelsey E., Ha, Thuong, Venugopal, Parvathy, Arts, Peer, King-Smith, Sarah L., Cheah, Jesse, Armstrong, Mark, Wang, Paul, Bödör, Csaba, Cantor, Alan B., Cazzola, Mario, Degelman, Erin, DiNardo, Courtney D., Duployez, Nicolas, Favier, Remi, Fröhling, Stefan, Rio-Machin, Ana, Klco, Jeffery M., Krämer, Alwin, Kurokawa, Mineo, Lee, Joanne, Malcovati, Luca, Morgan, Neil V., Natsoulis, Georges, Owen, Carolyn, Patel, Keyur P., Preudhomme, Claude, Raslova, Hana, Rienhoff, Hugh, Ripperger, Tim, Schulte, Rachael, Tawana, Kiran, Velloso, Elvira, Yan, Benedict, Kim, Erika, Sood, Raman, Hsu, Amy P., Holland, Steven M., Phillips, Kerry, Poplawski, Nicola K., Babic, Milena, Wei, Andrew H., Forsyth, Cecily, Mar Fan, Helen, Lewis, Ian D., Cooney, Julian, Susman, Rachel, Fox, Lucy C., Blombery, Piers, Singhal, Deepak, Hiwase, Devendra, Phipson, Belinda, Schreiber, Andreas W., Hahn, Christopher N., Scott, Hamish S., Liu, Paul, Godley, Lucy A., Brown, Anna L.
Publicado 2023