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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

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)

Blood (2019) 134 (Supplement_1): 3794.

https://doi.org/10.1182/blood-2019-131642

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

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

Genetic Predisposition to Therapy-Related Myeloid Neoplasm By Rare, Deleterious Germline Variants in DNA Repair Pathway and Myeloid Driver Genes

Blood (2018) 132 (Supplement 1): 1802.

https://doi.org/10.1182/blood-2018-99-117815

Published: 2018

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

Therapy-Related Myeloid Neoplasms (T-MN) and Primary MDS (PMDS) Patients with Very Low (VL) or Low (L) IPSS-R Score Share Clinical and Biological Characteristics and Have Similar Outcome

Blood (2018) 132 (Supplement 1): 3078.

https://doi.org/10.1182/blood-2018-99-115828

Published: 2018

Journal Articles

Clonal Diversity of Recurrently Mutated Genes in Myelodysplastic Syndromes

Devendra K Hiwase, MBBS, MD PhD FRACP, FRCPA, Chris N Hahn, PhD, Milena Babic, Sarah Moore, BSc(Hon), Carolyn M Butcher, MMedSc(Hons), Monika M Kutyna, Deepak Singhal, MD FRCPA,, Jinghua Feng, Bik To, MD, Andreas Schreiber, PhD, Hamish S Scott, PhD

Blood (2014) 124 (21): 4634.

https://doi.org/10.1182/blood.V124.21.4634.4634

Published: 2014

Journal Articles

Aberrant Activation of Epidermal Growth Factor Receptor in MPN May Respond to the Kinase Inhibitor Gefitinib

Debora A Casolari, PhD, Diana G Iarossi, BSc (Hons), Carolyn M Butcher, MMedSc(Hons), Sarah C Bray, PhD, Wendy T Parker, PhD, Chris N Hahn, PhD, Susan Branford, PhD, Peter Bardy, MD, Ian D Lewis, MBBS, PhD, Hamish S Scott, PhD, Steven W Lane, MD PhD, David M Ross, MBBS, PhD FRACP, FRCPA, Richard J D'Andrea, PhD

Blood (2014) 124 (21): 1882.

https://doi.org/10.1182/blood.V124.21.1882.1882

Published: 2014

Journal Articles

PCR-Mediated Recombination Can Lead To Artificial Chimera Formation, Which May Pose As BCR-ABL1 Compound Mutations

Wendy T Parker, PhD, Stuart R Phillis, BSc, David T Yeung, BSc, MBBS, FRACP, FRCPA, Timothy P. Hughes, MD, Hamish S Scott, PhD, Susan Branford, PhD

Blood (2013) 122 (21): 4014.

https://doi.org/10.1182/blood.V122.21.4014.4014

Published: 2013

Journal Articles

The patient's BCR-ABL1 Kinase Domain Mutation History Is Important for Decisions Regarding Tyrosine Kinase Inhibitor Therapy

Wendy T Parker, PhD, Alexandra L Yeoman, BSc, Bronte A Jamison, BSc, David T Yeung, BSc, MBBS, FRACP, FRCPA, Hamish S Scott, PhD, Timothy P Hughes, MD, Susan Branford, PhD

Blood (2012) 120 (21): 1692.

https://doi.org/10.1182/blood.V120.21.1692.1692

Published: 2012

Journal Articles

Multiple Low Level Mutations Identifies Imatinib Resistant CML Patients At Risk of Poor Response to Second-Line Inhibitor Therapy, Irrespective of the Resistance Profile of the Mutations

Wendy T Parker, PhD, Musei Ho, Hamish S Scott, PhD, Timothy P. Hughes, MD, Susan Branford, PhD

Blood (2011) 118 (21): 111.

https://doi.org/10.1182/blood.V118.21.111.111

Published: 2011

Journal Articles

Mechanisms of Co-Operation of DNMT3A Mutations with JAK2 V617F Through Histone H4 Arginine 3 Provides New Insights in MPN Disease Pathogenesis

Nisha Rao, Carolyn M Butcher, MMedSc(Hon), Petra J Neufing, Sarah Bray, Chris N Hahn, Hamish S Scott, PhD, Junia V. Melo, MD, PhD, David Ross, MBBS, PhD, Ian D Lewis, MBBS, PhD, Peter Bardy, MD, Richard J D'Andrea, PhD

Blood (2011) 118 (21): 2823.

https://doi.org/10.1182/blood.V118.21.2823.2823

Published: 2011

Journal Articles

GATA2 is a New Predisposition Gene for Familial Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia (AML)

Blood (2010) 116 (21): LBA-3.

https://doi.org/10.1182/blood.V116.21.LBA-3.LBA-3

Published: 2010

Journal Articles

Detection of Low Level Nilotinib or Dasatinib Resistant BCR-ABL Mutations by Mass Spectrometry In CML Patients Who Fail Imatinib Is Highly Predictive of Their Subsequent Clonal Expansion When Treated with the Drug for Which Their Mutation Confers Resistance

Wendy T Parker, PhD, Musei Ho, Rebecca M Lawrence, Darryl L Irwin, PhD, Hamish S Scott, PhD, Timothy Hughes, MD, MBBS, Susan Branford, PhD

Blood (2010) 116 (21): 891.

https://doi.org/10.1182/blood.V116.21.891.891

Published: 2010

NARROW

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

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

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

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

Genetic Predisposition to Therapy-Related Myeloid Neoplasm By Rare, Deleterious Germline Variants in DNA Repair Pathway and Myeloid Driver Genes

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

Therapy-Related Myeloid Neoplasms (T-MN) and Primary MDS (PMDS) Patients with Very Low (VL) or Low (L) IPSS-R Score Share Clinical and Biological Characteristics and Have Similar Outcome

Clonal Diversity of Recurrently Mutated Genes in Myelodysplastic Syndromes

Aberrant Activation of Epidermal Growth Factor Receptor in MPN May Respond to the Kinase Inhibitor Gefitinib

PCR-Mediated Recombination Can Lead To Artificial Chimera Formation, Which May Pose As BCR-ABL1 Compound Mutations

The patient's BCR-ABL1 Kinase Domain Mutation History Is Important for Decisions Regarding Tyrosine Kinase Inhibitor Therapy

Multiple Low Level Mutations Identifies Imatinib Resistant CML Patients At Risk of Poor Response to Second-Line Inhibitor Therapy, Irrespective of the Resistance Profile of the Mutations

Mechanisms of Co-Operation of DNMT3A Mutations with JAK2 V617F Through Histone H4 Arginine 3 Provides New Insights in MPN Disease Pathogenesis

GATA2 is a New Predisposition Gene for Familial Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia (AML)

Detection of Low Level Nilotinib or Dasatinib Resistant BCR-ABL Mutations by Mass Spectrometry In CML Patients Who Fail Imatinib Is Highly Predictive of Their Subsequent Clonal Expansion When Treated with the Drug for Which Their Mutation Confers Resistance

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American Society of Hematology

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