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Journal Articles

Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition

Jiarna R. Zerella, Claire C. Homan, Peer Arts, Xuzhu Lin, Sam J. Spinelli, Parvathy Venugopal, Milena Babic, Peter J. Brautigan, Lynda Truong, Luis Arriola-Martinez, Sarah Moore, Rachel Hollins, Wendy T. Parker, Hung Nguyen, Karin S. Kassahn, Susan Branford, Simone Feurstein, Lise Larcher, Flore Sicre de Fontbrune, Serwet Demirdas, Sonja de Munnik, Hélène Antoine-Poirel, Benedicte Brichard, Sahar Mansour, Kristiana Gordon, Marcin W. Wlodarski, Ashwin Koppayi, Sara Dobbins, Pim G. N. J. Mutsaers, Kim E. Nichols, Ninad Oak, Desiree DeMille, Rong Mao, Ali Crawford, Julie McCarrier, Donald Basel, Josue Flores-Daboub, Michael W. Drazer, Kerry Phillips, Nicola K. Poplawski, Graeme M. Birdsey, Daniela Pirri, Pia Ostergaard, Annet Simons, Lucy A. Godley, David M. Ross, Devendra K. Hiwase, Jean Soulier, Anna L. Brown, Catherine L. Carmichael, Hamish S. Scott, Christopher N. Hahn
Journal: Blood
Blood (2024) 144 (17): 1765–1780.
https://doi.org/10.1182/blood.2024024607
Published: 2024
Includes: Supplemental data
Journal Articles

IDH -mutant myeloid neoplasms are associated with seronegative rheumatoid arthritis and innate immune activation

Lih En Hong, Mihir D. Wechalekar, Monika Kutyna, Annabelle Small, Kelly Lim, Chloe Thompson-Peach, Joule J. Li, Rakchha Chhetri, Hamish S. Scott, Anna Brown, Christopher N. Hahn, David T. Yeung, Salvia Sajid, Nirmal Robinson, Ranjeny Thomas, Susan Branford, Richard J. D’Andrea, Saumya E. Samaraweera, Mrinal Patnaik, Susanna Proudman, Daniel Thomas, Chung Hoow Kok, Mithun V. Shah, Devendra K. Hiwase
Journal: Blood
Blood (2024) 143 (18): 1873–1877.
https://doi.org/10.1182/blood.2023023593
Published: 2024
Includes: Supplemental data
Journal Articles

ERG Is a New Predisposition Gene for Bone Marrow Failure and Hematological Malignancy

Hamish S Scott, Jiarna Zerella, Claire Homan, Peer Arts, Steve Lin, Sam J Spinelli, Milena Babic, Peter J Brautigan, Lynda Truong, Luis Arriola-Martinez, Parvathy Venugopal, Simone K Feurstein, Lise Larcher, Flore Sicre De Fontbrune, Serwet Demirdas, Sonja De Munnik, Hélène Poirel, Benedicte Brichard, Sara Dobbins, Pim Mutsaers, Desiree S DeMille, Josue Flores-Daboub, Michael W Drazer, Alison Crawford, Julie McCarrier, Donald G Basel, Kerry Phillips, Nicola K Poplawski, Graeme Birdsey, Daniela Pirri, Pia Ostergaard, Annet Simons, Lucy Godley, David M. Ross, Devendra Hiwase, Jean Soulier, Anna Brown, Catherine Carmichael, Christopher N. Hahn
Journal: Blood
Blood (2023) 142 (Supplement 2): LBA-6.
https://doi.org/10.1182/blood-2023-191986
Published: 2023
Journal Articles

Comparison of World Health Organization and International Consensus Classification Guidelines for Myeloid Neoplasms Harboring TP53 -Mutations Using an Independent International Cohort

Mithun V Shah, Monika Kutyna, Syed Shah, Elizabeth Ngoc Hoa Tran, Anmol Baranwal, Dariusz Ladon, Aref Al-Kali, Anna Brown, Dong Chen, Patricia Greipp, Kebede Begna, Mark R. Litzow, William J. Hogan, Peter Bardy, Sharad Kumar, David T Yeung, Mrinal M. Patnaik, James M. Foran, Rong He, Naseema Gangat, Hamish S Scott, Cecilia Y. Arana Yi, Hassan Alkhateeb, Abhishek A Mangaonkar, Daniel Thomas, Christopher Norman Hahn, Attilio Orazi, Daniel A. Arber, Chung Hoow Kok, Ayalew Tefferi, Devendra Hiwase
Journal: Blood
Blood (2023) 142 (Supplement 1): 3243.
https://doi.org/10.1182/blood-2023-187860
Published: 2023
Journal Articles

Outcomes of Patients with Richter Transformation without Prior Chemoimmunotherapy for CLL/SLL: An International Multicenter Retrospective Study

Adam S Kittai, Ying Huang, Sarah Miller, John N. Allan, Seema A Bhat, David A. Bond, Danielle M Brander, John C. Byrd, Julio C Chavez, Elise A. Chong, Matthew S Davids, Alexey Danilov, Wei Ding, Mark R Dowling, Kaitlyn M. Dvorak-Kornaus, Hannah Freedman, Paul J Hampel, Carrie I Ho, Steven R Hwang, Prioty Islam, Nitin Jain, Matthew Matasar, Cecelia Miller, Erin M Parry, Kari G. Rabe, Manoj Rai, Phil Raess, Lindsey E. Roeker, Joanna M. Rhodes, Kerry A Rogers, Aditi Saha, Jake Schade, Hamish S Scott, Mazyar Shadman, Geoffrey P. Shouse, Alan Skarbnik, Stephen E Spurgeon, Deborah M. Stephens, Meghan C. Thompson, Philip A. Thompson, Yucai Wang, William G. Wierda, Max Yano, Omer Zulfa, Jennifer A. Woyach
Journal: Blood
Blood (2023) 142 (Supplement 1): 497.
https://doi.org/10.1182/blood-2023-182114
Published: 2023
Journal Articles

High Prevalence of IDH Mutation in Myeloid Neoplasm with Concomitant Autoimmune Rheumatic Disorders

Lih En Hong, Chung Hoow Kok, Monika Kutyna, Joule J Li, Rakchha Chhetri, David M. Ross, Susan Branford, Hamish S Scott, Anna Brown, Christopher Norman Hahn, David T Yeung, Mrinal M. Patnaik, Mithun V Shah, Susanna Proudman, Mihir Wechalekar, Devendra Hiwase
Journal: Blood
Blood (2023) 142 (Supplement 1): 4621.
https://doi.org/10.1182/blood-2023-190809
Published: 2023
Journal Articles

Single-Hit TP53 mut Is Associated with Poor Outcomes in Therapy-Related but Not De Novo Myelodysplastic Syndromes: Importance of Clinical History

Devendra Hiwase, Anmol Baranwal, Syed Shah, Monika Kutyna, Christopher Norman Hahn, Maymona Abdelmajid, Danielle Rud, Rakchha Chhetri, Kaaren K. Reichard, Dong Chen, Thomas Wiseman, Anna Brown, Hamish S Scott, David T Yeung, David M. Ross, Daniel Thomas, Aref Al-Kali, Hassan Alkhateeb, James M. Foran, Cecilia Y. Arana Yi, Naseema Gangat, Mrinal M. Patnaik, Ayalew Tefferi, Chung Hoow Kok, Rong He, Mithun V Shah
Journal: Blood
Blood (2023) 142 (Supplement 1): 4608.
https://doi.org/10.1182/blood-2023-187905
Published: 2023
Journal Articles

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

Claire C. Homan, Hamish S. Scott, Anna L. Brown
Journal: Blood
Blood (2023) 141 (13): 1533–1543.
https://doi.org/10.1182/blood.2022017735
Published: 2023
Journal Articles

Discovery of novel predisposing coding and noncoding variants in familial Hodgkin lymphoma

Jamie E. Flerlage, Jason R. Myers, Jamie L. Maciaszek, Ninad Oak, Sara R. Rashkin, Yawei Hui, Yong-Dong Wang, Wenan Chen, Gang Wu, Ti-Cheng Chang, Kayla Hamilton, Saima S. Tithi, Lynn R. Goldin, Melissa Rotunno, Neil Caporaso, Aurélie Vogt, Deborah Flamish, Kathleen Wyatt, Jia Liu, Margaret Tucker, Christopher N. Hahn, Anna L. Brown, Hamish S. Scott, Charles Mullighan, Kim E. Nichols, Monika L. Metzger, Mary L. McMaster, Jun J. Yang, Evadnie Rampersaud
Journal: Blood
Blood (2023) 141 (11): 1293–1307.
https://doi.org/10.1182/blood.2022016056
Published: 2023
Includes: Supplemental data
Journal Articles

TP53 Mutation Status Defines a Distinct Clinicopathological Entity of Therapy-Related Myeloid Neoplasm, Characterized By Genomic Instability and Extremely Poor Outcome

Mithun V. Shah, Christopher N Hahn, Elizabeth Ngoc Hoa Tran, Kirsty M Sharplin, Rakchha Chhetri, Anmol Baranwal, Monika M Kutyna, Paul Wang, Dariusz Ladon, Aref Al-Kali, Hassan B. Alkhateeb, David M Ross, David T Yeung, Naranie Shanmuganathan, Mark R. Litzow, Abhishek A. Mangaonkar, William J. Hogan, Naseema Gangat, Mrinal M.M. Patnaik, Begna Kebede, Sharad Kumar, Deepak Singhal, Anna L. Brown, Hamish S Scott, Daniel Thomas, Chung Hoow Kok, Ayalew Tefferi, Devendra Hiwase
Journal: Blood
Blood (2022) 140 (Supplement 1): 9798–9799.
https://doi.org/10.1182/blood-2022-165859
Published: 2022
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
Journal: Blood
Blood (2022) 140 (Supplement 1): 4030–4033.
https://doi.org/10.1182/blood-2022-167600
Published: 2022
Journal Articles

Allogeneic Hematopoietic Stem Cell Transplant Outcomes in Adults with Inherited Myeloid Malignancies

Caner Saygin, Gregory W. Roloff, Christopher N Hahn, Rakchha Chhetri, Saar Gill, Hany Elmariah, Chetasi Talati, Emma Nunley, Guimin Gao, Aelin Kim, Michael R. Bishop, Satyajit Kosuri, Soma Das, Deepak Singhal, Parvathy Venugopal, Claire Homan, Anna L. Brown, Hamish S Scott, Devendra Hiwase, Lucy A. Godley
Journal: Blood
Blood (2022) 140 (Supplement 1): 10542–10544.
https://doi.org/10.1182/blood-2022-167098
Published: 2022
Journal Articles

Childhood acute myeloid leukemia shows a high level of germline predisposition

Saumya E. Samaraweera, Paul P. S. Wang, Ka Leung Li, Debora A. Casolari, Jinghua Feng, Mark Pinese, Kyaw Ze Ya Maung, Paul Leo, Mark Cowley, Kelly Perkins, Amanda M. Smith, Jonathan Ellis, Amilia Wee, Devendra K. Hiwase, Hamish S. Scott, Andreas W. Schreiber, Anna L. Brown, Andrew J. Deans, David M. Ross, Andrew S. Moore, Thomas J. Gonda, Christopher N. Hahn, Richard J. D’Andrea
Journal: Blood
Blood (2021) 138 (22): 2293–2298.
https://doi.org/10.1182/blood.2021012666
Published: 2021
Includes: Supplemental data
Journal Articles

Unexpected High Frequency of Pathogenic Germline Variants in Older Adults with Primary Myelodysplastic Syndrome

Christopher N Hahn, Simone K. Feurstein, Deepak Singhal, Monika M Kutyna, Rakchha Chhetri, Amilia Wee, Daniel Thomas, Hamish S Scott, Devendra Hiwase
Journal: Blood
Blood (2021) 138 (Supplement 1): 2594.
https://doi.org/10.1182/blood-2021-154514
Published: 2021
Journal Articles

Secondary leukemia in patients with germline transcription factor mutations ( RUNX1 , GATA2 , CEBPA )

Anna L. Brown, Christopher N. Hahn, Hamish S. Scott
Journal: Blood
Blood (2020) 136 (1): 24–35.
https://doi.org/10.1182/blood.2019000937
Published: 2020
Includes: Supplemental data
Journal Articles

An RNA-Based Next Generation Sequencing (NGS) Strategy Detects More Cancer Gene Mutations Than a DNA-Based Approach for the Prediction and Assessment of Resistance in CML

Susan Branford, PhD FFSc (RCPA), Carol Wadham, PhD, Naranie Shanmuganathan, MBBS FRACP FRCPA, Daniel Thomson, PhD BSc, NUR Hezrin Shahrin, PhD, Jinghua Feng, PhD, Verity A Saunders, Wendy T Parker, PhD, Rob King, Paul Wang, PhD, Hamish S Scott, PhD FFSc (RCPA), Andreas Schreiber, PhD, Timothy P. Hughes, MDMBBS,FRACP,FRCPA
Journal: Blood
Blood (2019) 134 (Supplement_1): 2918.
https://doi.org/10.1182/blood-2019-123242
Published: 2019
Journal Articles

RNA Splicing Defects in Cancer-Linked Genes Indicate Mutation or Focal Gene Deletion and Are Associated with TKI Resistance in CML

Naranie Shanmuganathan, MBBS FRACP FRCPA, Daniel Thomson, PhD BSc, Carol Wadham, PhD, Verity A Saunders, Nur Hezrin Shahrin, PhD, David T Yeung, PhDBSc,FRACP,FRCPA,MBBS, Hamish S Scott, PhD FFSc (RCPA), Timothy P. Hughes, MDMBBS,FRACP,FRCPA, Andreas Schreiber, Susan Branford, PhD FFSc (RCPA)
Journal: Blood
Blood (2019) 134 (Supplement_1): 662.
https://doi.org/10.1182/blood-2019-123180
Published: 2019
Journal Articles

An Integrative Genomic Approach to Examine Mutations and Biological Pathways Associated with Hematological Malignancy Development in DDX41 Mutated Families

Parvathy Venugopal, PhD, Jesse JC Cheah, Leila Eshraghi, PhD, Nur Hezrin Shahrin, PhD, Claire Homan, PhD, Jinghua Feng, PhD, Andreas W Schreiber, PhD, Miriam Fine, Kerry Phillips, Nicola Poplawski, MD, Anna L Brown, PhD, Christopher N Hahn, PhD, Hamish S Scott, PhD FFSc (RCPA)
Journal: Blood
Blood (2019) 134 (Supplement_1): 2686.
https://doi.org/10.1182/blood-2019-131649
Published: 2019
Journal Articles

Familial Clustering of Hematological Malignancies: Harbingers of Wider Germline Cancer Susceptibility

Anna L Brown, PhD, Milena Babic, BMPharBio (Hons), Andreas Schreiber, Jinghua Feng, PhD, Julia Dobbins, BSc (Hons), Peer Arts, PhD, Paul Wang, PhD, Kerry Phillips, Devendra K Hiwase, MBBS, MD FRACP, FRCPA, PhD, Parvathy Venugopal, PhD MSc, BSc, Susan Branford, PhD FFSc (RCPA), Nicola Poplawski, MD, Christopher N Hahn, PhD, Hamish S Scott, PhD FFSc (RCPA)
Journal: Blood
Blood (2019) 134 (Supplement_1): 3794.
https://doi.org/10.1182/blood-2019-131642
Published: 2019
Journal Articles

Australian Familial Haematological Cancer Study - Findings from 15 Years of Aggregated Clinical, Genomic and Transcriptomic Data

Christopher N Hahn, PhD, Milena Babic, BMPharBio (Hons), Peter J Brautigan, BSc (Hons), Parvathy Venugopal, PhD MSc, BSc, Kerry Phillips, Julia Dobbins, BSc (Hons), Peer Arts, PhD, Amilia Wee, BSc (Hons), Deepak Singhal, MBBS,MDFRACP,FRCPA, Devendra K Hiwase, MBBS, MD FRACP, FRCPA, PhD, Jinghua Feng, PhD, Andreas W Schreiber, PhD, Richard J D'Andrea, PhD, Nicola Poplawski, MD, Anna L Brown, PhD, Hamish S Scott, PhD FFSc (RCPA)
Journal: Blood
Blood (2019) 134 (Supplement_1): 1439.
https://doi.org/10.1182/blood-2019-131686
Published: 2019