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

Autor: Homan, Claire C. ^{1, 2}, Drazer, Michael W. ³, Yu, Kai ⁴, Lawrence, David M. ^{1, 2, 5}, Feng, Jinghua ^{2, 5}, Arriola-Martinez, Luis ^{1, 2}, Pozsgai, Matthew J. ³, McNeely, Kelsey E. ³, Ha, Thuong ^{1, 2}, Venugopal, Parvathy ^{1, 2}, Arts, Peer ^{1, 2}, King-Smith, Sarah L. ^{1, 2}, Cheah, Jesse ^{1, 2}, Armstrong, Mark ^{1, 2}, Wang, Paul ^{2, 5}, Bödör, Csaba ⁶, Cantor, Alan B. ⁷, Cazzola, Mario ^{8, 9}, Degelman, Erin ¹⁰, DiNardo, Courtney D. ¹¹, Duployez, Nicolas ^{12, 13}, Favier, Remi ¹⁴, Fröhling, Stefan ^{15, 16}, Rio-Machin, Ana ¹⁷, Klco, Jeffery M. ¹⁸, Krämer, Alwin ¹⁹, Kurokawa, Mineo ²⁰, Lee, Joanne ²¹, Malcovati, Luca ^{8, 9}, Morgan, Neil V. ²², Natsoulis, Georges ²³, Owen, Carolyn ²⁴, Patel, Keyur P. ¹¹, Preudhomme, Claude ^{12, 13}, Raslova, Hana ²⁵, Rienhoff, Hugh ²³, Ripperger, Tim ²⁶, Schulte, Rachael ²⁷, Tawana, Kiran ²⁸, Velloso, Elvira ^{29, 30}, Yan, Benedict ²¹, Kim, Erika ³¹, Sood, Raman ⁴, Hsu, Amy P. ³³, Holland, Steven M. ³³, Phillips, Kerry ³⁴, Poplawski, Nicola K. ^{34, 35}, Babic, Milena ^{1, 2}, Wei, Andrew H. ³⁶, Forsyth, Cecily ³⁷, Mar Fan, Helen ³⁸, Lewis, Ian D. ³⁹, Cooney, Julian ⁴⁰, Susman, Rachel ⁴¹, Fox, Lucy C. ⁴², Blombery, Piers ⁴², Singhal, Deepak ⁴³, Hiwase, Devendra ^{35, 43}, Phipson, Belinda ^{44, 45}, Schreiber, Andreas W. ^{2, 5, 46}, Hahn, Christopher N. ^{1, 2, 35}, Scott, Hamish S. ^{1, 2, 5, 35}, Liu, Paul ⁴, Godley, Lucy A. ³, Brown, Anna L. ^{1, 2, 35, ∗}

Publikováno v: In Blood Advances 24 October 2023 7(20):6092-6107

Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation

Autor: Akesson, Lauren, Allcock, Richard, Ashton, Katie, Bell, Damon A., Brown, Anna, Buckley, Michael, Burnett, John R., Burrows, Linda, Byrne, Alicia, Chan, Eva, Cliffe, Corrina, Clifton-Bligh, Roderick, Dooley, Susan, Fernandez, Miriam Fanjul, Farnsworth, Elizabeth, Ha, Thuong, Henry, Denae, Holds, Duncan, Holman, Katherine, Jackson, Matilda, Kang, Sinlay, Luxford, Catherine, McManus, Sam, Mehrtens, Rachael, Meldrum, Cliff, Mossman, David, Pantaleo, Sarah-Jane, Phelan, Dean, Pontikinas, Electra, Ravine, Anja, Roscioli, Tony, Scott, Rodney, Simons, Keryn, Vanwageningen, Oliver, Tudini, Emma ^{1, 2}, Andrews, James ^{1, 3}, Lawrence, David M. ³, King-Smith, Sarah L. ^{1, 4}, Baker, Naomi ^{5, 6}, Baxter, Leanne ⁷, Beilby, John ^{8, 9}, Bennetts, Bruce ^{10, 11}, Beshay, Victoria ¹², Black, Michael ¹³, Boughtwood, Tiffany F. ^{1, 14}, Brion, Kristian ⁷, Cheong, Pak Leng ^{15, 16}, Christie, Michael ¹⁷, Christodoulou, John ^{1, 11, 14, 18}, Chong, Belinda ⁵, Cox, Kathy ⁴, Davis, Mark R. ^{13, 19}, Dejong, Lucas ⁴, Dinger, Marcel E. ²⁰, Doig, Kenneth D. ^{12, 21}, Douglas, Evelyn ⁴, Dubowsky, Andrew ⁴, Ellul, Melissa ⁴, Fellowes, Andrew ¹², Fisk, Katrina ¹⁰, Fortuno, Cristina ², Friend, Kathryn ⁴, Gallagher, Renee L. ⁷, Gao, Song ⁴, Hackett, Emma ¹⁰, Hadler, Johanna ⁴, Hipwell, Michael ²², Ho, Gladys ^{10, 11}, Hollway, Georgina ^{23, 24}, Hooper, Amanda J. ^{25, 26}, Kassahn, Karin S. ^{4, 27}, Krishnaraj, Rahul ¹⁰, Lau, Chiyan ^{7, 28}, Le, Huong ¹⁵, San Leong, Huei ¹², Lundie, Ben ⁷, Lunke, Sebastian ^{5, 6}, Marty, Anthony ²⁹, McPhillips, Mary ²², Nguyen, Lan T. ²⁵, Nones, Katia ²⁴, Palmer, Kristen ³⁰, Pearson, John V. ³¹, Quinn, Michael C.J. ^{1, 32}, Rawlings, Lesley H. ⁴, Sadedin, Simon ^{5, 6, 14}, Sanchez, Louisa ⁴, Schreiber, Andreas W. ^{3, 33}, Sigalas, Emanouil ¹⁷, Simsek, Aygul ⁴, Soubrier, Julien ^{4, 33}, Stark, Zornitza ^{1, 5, 6}, Thompson, Bryony A. ¹⁷, U, James ²⁹, Vakulin, Cassandra G. ⁴, Wells, Amanda V. ⁴, Wise, Cheryl A. ¹³, Woods, Rick ⁷, Ziolkowski, Andrew ²², Brion, Marie-Jo ^{1, 2}, Scott, Hamish S. ^{1, 3, 4, 27, 35}, Thorne, Natalie P. ^{1, 6, 14, 29, 34, 35}, Spurdle, Amanda B. ^{1, 2, ∗}

Publikováno v: In The American Journal of Human Genetics 3 November 2022 109(11):1960-1973

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

Autor: Brown, Anna L. ^{1, 2, 3, *, *}, Arts, Peer ^{1, 2, *}, Carmichael, Catherine L. ⁴, Babic, Milena ^{1, 2}, Dobbins, Julia ^{1, 2}, Chong, Chan-Eng ¹, Schreiber, Andreas W. ^{5, 6}, Feng, Jinghua ^{2, 6}, Phillips, Kerry ⁷, Wang, Paul P.S. ⁶, Ha, Thuong ^{1, 2}, Homan, Claire C. ^{1, 2}, King-Smith, Sarah L. ^{1, 2}, Rawlings, Lesley ¹, Vakulin, Cassandra ¹, Dubowsky, Andrew ¹, Burdett, Jessica ¹, Moore, Sarah ¹, McKavanagh, Grace ¹, Henry, Denae ¹, Wells, Amanda ¹, Mercorella, Belinda ¹, Nicola, Mario ¹, Suttle, Jeffrey ¹, Wilkins, Ella ⁸, Li, Xiao-Chun ², Michaud, Joelle ^{8, *}, Brautigan, Peter ^{1, 2}, Cannon, Ping ⁸, Altree, Meryl ⁷, Jaensch, Louise ⁷, Fine, Miriam ⁷, Butcher, Carolyn ^{2, 9}, D'Andrea, Richard J. ², Lewis, Ian D. ^{4, 10}, Hiwase, Devendra K. ^{3, 9, 11}, Papaemmanuil, Elli ¹², Horwitz, Marshall S. ¹³, Natsoulis, Georges ¹⁴, Rienhoff, Hugh Y., Jr ¹⁴, Patton, Nigel ¹⁵, Mapp, Sally ¹⁶, Susman, Rachel ¹⁷, Morgan, Susan ¹⁸, Cooney, Julian ¹⁹, Currie, Mark ²⁰, Popat, Uday ²¹, Bochtler, Tilmann ²², Izraeli, Shai ^{23, 24}, Bradstock, Kenneth ²⁵, Godley, Lucy A. ²⁶, Krämer, Alwin ²², Fröhling, Stefan ^{27, 28}, Wei, Andrew H. ²⁹, Forsyth, Cecily ³⁰, Mar Fan, Helen ¹⁷, Poplawski, Nicola K. ^{7, 31}, Hahn, Christopher N. ^{1, 2, 3, *, *}, Scott, Hamish S. ^{1, 2, 3, 6, *, *}

Publikováno v: In Blood Advances 24 March 2020 4(6):1131-1144

Comment on 'Unique Translation between Hamiltonian Operators and Functional Integrals'

Autor: Weyrauch, Michael, Schreiber, Andreas W.

Publikováno v: Phys.Rev.Lett. 88 (2002) 078901

In a recent letter [PRL 86, 1 (2001)], Gollisch and Wetterich show that a careful treatment of discretization errors in a phase-space path integral formulation of quantum mechanics leads to a correction term as compared to the standard form based on

Externí odkaz: http://arxiv.org/abs/cond-mat/0112327

Dimensionally Regularized Study of Nonperturbative Quenched QED

Autor: Schreiber, Andreas W., Sizer, Tom, Williams, Anthony G.

We study the dimensionally regularized fermion propagator Dyson-Schwinger equation in quenched nonperturbative QED in an arbitrary covariant gauge using the Curtis-Pennington vertex and perform nonperturbative renormalization numerically. The nonpert

Externí odkaz: http://arxiv.org/abs/hep-ph/9807202