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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

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

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

Blood (2023) 142 (Supplement 2): LBA-6.

https://doi.org/10.1182/blood-2023-191986

Published: 2023

Journal Articles

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

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

Blood (2023) 142 (Supplement 1): 4621.

https://doi.org/10.1182/blood-2023-190809

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

Blood (2023) 142 (Supplement 1): 3243.

https://doi.org/10.1182/blood-2023-187860

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

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

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

Blood (2023) 141 (11): 1293–1307.

https://doi.org/10.1182/blood.2022016056

Published: 2023

Includes: Supplemental data

Journal Articles

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

Blood (2022) 140 (Supplement 1): 10542–10544.

https://doi.org/10.1182/blood-2022-167098

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

Blood (2022) 140 (Supplement 1): 4030–4033.

https://doi.org/10.1182/blood-2022-167600

Published: 2022

Journal Articles

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

Blood (2022) 140 (Supplement 1): 9798–9799.

https://doi.org/10.1182/blood-2022-165859

Published: 2022

Journal Articles

Childhood acute myeloid leukemia shows a high level of germline predisposition

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

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

Blood (2020) 136 (1): 24–35.

https://doi.org/10.1182/blood.2019000937

Published: 2020

Includes: Supplemental data

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)

Blood (2019) 134 (Supplement_1): 662.

https://doi.org/10.1182/blood-2019-123180

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)

Blood (2019) 134 (Supplement_1): 1439.

https://doi.org/10.1182/blood-2019-131686

Published: 2019

Journal Articles

Deleterious Germline Variants, Especially in the DNA Repair Pathway, Are Common in Patients with Non-Related Multiple Cancers, One of Them Being Hematological Malignancy

Blood (2019) 134 (Supplement_1): 1704.

https://doi.org/10.1182/blood-2019-126462

Published: 2019

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

Blood (2019) 134 (Supplement_1): 2918.

https://doi.org/10.1182/blood-2019-123242

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)

Blood (2019) 134 (Supplement_1): 2686.

https://doi.org/10.1182/blood-2019-131649

Published: 2019

NARROW

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

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

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

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

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

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

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

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

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

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

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

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

Childhood acute myeloid leukemia shows a high level of germline predisposition

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

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

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

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

Deleterious Germline Variants, Especially in the DNA Repair Pathway, Are Common in Patients with Non-Related Multiple Cancers, One of Them Being Hematological Malignancy

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

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

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American Society of Hematology

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American Society of Hematology

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