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Journal Articles

Seeding the future: the natural history of RUNX1 deficiency

Tim Ripperger

Blood (2023) 142 (25): 2127–2128.

https://doi.org/10.1182/blood.2023022427

Published: 2023

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

Development of a Data Portal for Aggregation and Analysis of Genomics Data in Familial Platelet Disorder with Predisposition to Myeloid Malignancy - the RUNX1.DB

Anna L. Brown, PhD BSc, Mark Armstrong, MSc, David Lawrence, Paul Wang, Peer Arts, PhD, Nicolas Duployez, PharmD, PhD, Jane Churpek, MD, Kiran Tawana, MD, Erin Degelman, MSc, BSc, Georges Natsoulis, PhD, Monica L. Guzman, PhD, Mrinal M. Patnaik, MD MBBS, Akiko Shimamura, MD PhD, Alan B. Cantor, MD PhD, Tim Ripperger, MD PhD, Brigitte Schlegelberger, MD PhD, Doris Steinemann, PhD, Courtney D. DiNardo, MD MSc, Cristina Mecucci, MD PhD, Elvira DRP Velloso, MD PhD, Fabio PS Santos, MD, Marcela CA Silva, Uma Borate, MD, Shannon K. McWeeney, PhD, Grzegorz Nalepa, MD PhD, Susanne Ragg, MD PhD, Erika Mijin Kwon, PhD, Anupriya Agarwal, PhD, Stephen Langabeer, PhD, Jeffery M. Klco, MD PhD, Jun J. Yang, PhD, Cecily Forsyth, FRACP, FRCPA, MBBS, Sally Mapp, MD PhD, Helen Mar Fan, MD, Lesley Rawlings, PhD, Rachel Susman, Sue Morgan, FRACP, FRCPA, MBBS, Andrew H Wei, MBBS,PhD, Inderjeet Dokal, MD, Tom Vulliamy, Devendra K Hiwase, MBBS, MD FRACP, FRCPA, PhD, Deepak Singhal, MBBS, MD FRACP, FRCPA, Susan Branford, PhD, Elli Papaemmanuil, PhD, Jean Soulier, MDPhD, Stefan Fröhling, MD, Alwin Kramer, MD, Guy Sauvageau, MD PhD, Neil Morgan, Carolyn Owen, Csaba Bödör, PhD, Jude Fitzgibbon, Hugh Y. Rienhoff, Jr., MD, Mineo Kurokawa, MD PhD, Lucy Godley, MD PhD, Claude Preudhomme, Paul P Liu, MD PhD, Nicola Poplawski, MD, Christopher N. Hahn, PhD, Hamish S. Scott, PhD

Blood (2018) 132 (Supplement 1): 5241.

https://doi.org/10.1182/blood-2018-99-118017

Published: 2018

Journal Articles

Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms

Blood (2017) 129 (16): 2266–2279.

https://doi.org/10.1182/blood-2016-10-743302

Published: 2017

Includes: Supplemental data

Journal Articles

Clinical Heterogeneity in RUNX1-Associated Familial Myelodysplastic Syndrome - Report of Two Novel Pedigrees with Childhoodleukemia

Tim Ripperger, Birgit Burkhardt, PhD MD, Fabian Hauck, MD PhD, Michael H. Albert, MD, Kathrin Thomay, Dr. rer. nat., Marcin Wlodarski, MD, Ayami Yoshimi, MD, Gudrun Göhring, MD, Brigitte Schlegelberger, Prof, MD, Charlotte M Niemeyer, Prof, MD, Doris Steinemann, Prof

Blood (2016) 128 (22): 5509.

https://doi.org/10.1182/blood.V128.22.5509.5509

Published: 2016

Journal Articles

Cytopenia, Predisposition to Myelodysplastic Syndrome, Immunodeficiency, and Neurological Disease Caused By Gain-of-Function SAMD9L Mutations Is Frequently Ameliorated By Hematopoietic Revertant Mosaicism

Blood (2016) 128 (22): 4299.

https://doi.org/10.1182/blood.V128.22.4299.4299

Published: 2016

Journal Articles

Expression of the ETS Transcription Factor GABPα Is Correlated to BCR-ABL/ABL ratio in Human CML and Mediates Imatinib Sensitivity

Georgi Manukjan, MSc, Tim Ripperger, MDPhD, Laura Santer, BSc, Nils von Neuhoff, PhD, Arnold Ganser, MD, Axel Schambach, MDPhD, Brigitte Schlegelberger, MD, Doris Steinemann, PhD

Blood (2014) 124 (21): 1787.

https://doi.org/10.1182/blood.V124.21.1787.1787

Published: 2014

Journal Articles

Familial AML With Germline CEBPA Mutations: Extended Clinical Outcomes and Analysis Of Secondary Mutations Using Whole Exome Sequencing

Kiran Tawana, MD, Aline Renneville, Jun Wang, PhD, Panayiotis Georgiades, Xavier Thomas, MD, Valerie Mialou, MD, Aleksander Savic, MD, Frederik W Van Delft, MD PhD, Jennifer G. Treleaven, MD, Sameena Iqbal, Norio Asou, MD, PhD, Naokuni Uike, MD, Konstanze Döhner, MD, Lars Bullinger, MD, PhD, Matthias Stelljes, MD, Csaba Bödör, PhD, James D. Cavenagh, MD, Doris Steinemann, PhD, Tim Ripperger, MD, Brigitte Schlegelberger, MD, PhD, Peter Vandenberghe, MD, PhD, Anne Uyttebroeck, MD, Josep F. Nomdedeu, MD, Henrik Hjorth-Hansen, MD, PhD, Rosemary E Gale, PhD, Cynthia L. Toze, MD, FRCP(C), Michael J. Barnett, BMBS, FRCPC, FRCP, FRCPath, Marianna Zombori, MD, Krisztian Kallay, MD, Jiri Pavlu, MD, Pim Mutsaers, MD, Fred H Menko, MD, Angela Thomas, PhD, FRCPath, FRCP, MB, BS, Christine Wright, MD, Jessica Okosun, MD, Chey Loveday, PhD, Pierre Fenaux, MD, PhD, Hamish Scott, PhD, Claude Preudhomme, Claude Chelala, PhD, Alison Male, MD, Carolyn J. Owen, MD, FRCPC, Matthew Smith, MD, PhD, Jude Fitzgibbon, PhD

Blood (2013) 122 (21): 740.

https://doi.org/10.1182/blood.V122.21.740.740

Published: 2013

Journal Articles

Gain of the Centromeric Region of Chromosome 8, a New Germline Alteration In Juvenile Myelomonocytic Leukemia

Doris Steinemann, Tim Ripperger, Marcel Tauscher, Inka Praulich, Gudrun Göhring, Brigitte Pabst, Andrea Teigler-Schlegel, Brigitte Schlegelberger, Charlotte M Niemeyer, Christian Flotho

Blood (2010) 116 (21): 4830.

https://doi.org/10.1182/blood.V116.21.4830.4830

Published: 2010

NARROW

Seeding the future: the natural history of RUNX1 deficiency

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

Development of a Data Portal for Aggregation and Analysis of Genomics Data in Familial Platelet Disorder with Predisposition to Myeloid Malignancy - the RUNX1.DB

Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms

Clinical Heterogeneity in RUNX1-Associated Familial Myelodysplastic Syndrome - Report of Two Novel Pedigrees with Childhoodleukemia

Cytopenia, Predisposition to Myelodysplastic Syndrome, Immunodeficiency, and Neurological Disease Caused By Gain-of-Function SAMD9L Mutations Is Frequently Ameliorated By Hematopoietic Revertant Mosaicism

Expression of the ETS Transcription Factor GABPα Is Correlated to BCR-ABL/ABL ratio in Human CML and Mediates Imatinib Sensitivity

Familial AML With Germline CEBPA Mutations: Extended Clinical Outcomes and Analysis Of Secondary Mutations Using Whole Exome Sequencing

Gain of the Centromeric Region of Chromosome 8, a New Germline Alteration In Juvenile Myelomonocytic Leukemia

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American Society of Hematology

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American Society of Hematology

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