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Journal Articles

Correlation between the Integrated MDS Flow Cytometry Score and Genomic Abnormalities - a Single Centre Analysis from King's College Hospital

Henry Wood, Lauren Jamieson, Charles Manogaran, Katy Jones, Kar Lok Kong, Josephine Goodwin, Steve Best, Azim Mohamedali, Aytug Kizilors, Nicholas C Lea, Zoe Thorn, Frances Aldridge, Liron Barnea Slonim, Prudence Hardefeldt, Guy Hannah, Shireen Kassam, Deborah Yallop, Austin G. Kulasekararaj

Blood (2024) 144 (Supplement 1): 6751.

https://doi.org/10.1182/blood-2024-211268

Published: 2024

Journal Articles

A Dedicated System Accounting for Specific Germline/Somatic Genomic Constellations Is Essential to Predict Outcomes in DDX41 -Mutant Myeloid Neoplasia

Blood (2024) 144 (Supplement 1): 1332.

https://doi.org/10.1182/blood-2024-194024

Published: 2024

Journal Articles

Impact of Somatic Second Hit and Comutations in Myeloid Neoplasms with Germline DDX41 Mutations

Guilherme Mendes Sapinho, Pramila Krishnamurthy, Guy Hannah, Shreyans Gandhi, Victoria Potter, Mili Shah, Nicholas Lea, Clair Engelbrecht, Heidre Bezuidenhout, Katie Snape, Steve Best, Austin Kulasekararaj

Blood (2023) 142 (Supplement 1): 6446.

https://doi.org/10.1182/blood-2023-189451

Published: 2023

Journal Articles

Outcome Prediction in DDX41 -Mutant Myelodysplastic Syndromes Is Not Possible with General Disease Schemes and Requires a Dedicated Risk Scoring System

Carmelo Gurnari, Hideki Makishima, Arda Durmaz, Ryunosuke Saiki, Guilherme Mendes Sapinho, Alex Bataller, Lukasz P. Gondek, Yasuhito Nannya, Steve Best, Pramila Krishnamurthy, Hussein Awada, Enrico Attardi, Valeria Visconte, Maria Teresa Voso, Amy E. DeZern, Guillermo Garcia-Manero, Austin Kulasekararaj, Jaroslaw P. Maciejewski, Seishi Ogawa

Blood (2023) 142 (Supplement 1): 316.

https://doi.org/10.1182/blood-2023-178116

Published: 2023

Journal Articles

Germ line DDX41 mutations define a unique subtype of myeloid neoplasms

Hideki Makishima, Ryunosuke Saiki, Yasuhito Nannya, Sophia Korotev, Carmelo Gurnari, June Takeda, Yukihide Momozawa, Steve Best, Pramila Krishnamurthy, Tetsuichi Yoshizato, Yoshiko Atsuta, Yusuke Shiozawa, Yuka Iijima-Yamashita, Kenichi Yoshida, Yuichi Shiraishi, Yasunobu Nagata, Nobuyuki Kakiuchi, Makoto Onizuka, Kenichi Chiba, Hiroko Tanaka, Ayana Kon, Yotaro Ochi, Masahiro M. Nakagawa, Rurika Okuda, Takuto Mori, Akinori Yoda, Hidehiro Itonaga, Yasushi Miyazaki, Masashi Sanada, Takayuki Ishikawa, Shigeru Chiba, Hisashi Tsurumi, Senji Kasahara, Carsten Müller-Tidow, Akifumi Takaori-Kondo, Kazuma Ohyashiki, Toru Kiguchi, Fumihiko Matsuda, Joop H. Jansen, Chantana Polprasert, Piers Blombery, Yoichiro Kamatani, Satoru Miyano, Luca Malcovati, Torsten Haferlach, Michiaki Kubo, Mario Cazzola, Austin G. Kulasekararaj, Lucy A. Godley, Jaroslaw P. Maciejewski, Seishi Ogawa

Blood (2023) 141 (5): 534–549.

https://doi.org/10.1182/blood.2022018221

Published: 2023

Includes: Supplemental data

Journal Articles

Germline Risks and Clinical Impacts of DDX41 Mutations in Myeloid Malignancies

Hideki Makishima, Ryunosuke Saiki, Yasuhito Nannya, Sophia C. Korotev, Carmelo Gurnari, June Takeda, Yukihide Momozawa, Steve Best, Pramila Krishnamurthy, Tetsuichi Yoshizato, Yoshiko Atsuta, Yusuke Shiozawa, Yuka Iijima-Yamashita, Kenichi Yoshida, Yuichi Shiraishi, Yasunobu Nagata, Nobuyuki Kakiuchi, Makoto Onizuka, Kenichi Chiba, Hiroko Tanaka, Ayana Kon, Yotaro Ochi, Masahiro Marshall Nakagawa, Rurika Okuda, Takuto Mori, Akinori Yoda, Hidehiro Itonaga, Yasushi Miyazaki, Masashi Sanada, Takayuki Ishikawa, Shigeru Chiba, Hisashi Tsurumi, Senji Kasahara, Carsten Müller-Tidow, Akifumi Takaori-Kondo, Kazuma Ohyashiki, Toru Kiguchi, Fumihiko Matsuda, Joop H. Jansen, Chantana Polprasert, Piers Blombery, Yoichiro Kamatani, Satoru Miyano, Luca Malcovati, Torsten Haferlach, Michiaki Kubo, Mario Cazzola, Austin Kulasekararaj, Lucy A. Godley, Jaroslaw P. Maciejewski, Seishi Ogawa

Blood (2022) 140 (Supplement 1): 208–210.

https://doi.org/10.1182/blood-2022-158851

Published: 2022

Journal Articles

Neoantigens in MDS Are Associated with Two Novel CD4+ T Cell Subsets and Improved Overall Survival

Thomas Coats, MD, Alexander E Smith, PhD, Athanasios Mourikis, Tala Shahin, Austin G. Kulasekararaj, MBBS, MD MRCP, FRCPath, Steve Best, PhD, Sneha Chitre, Richard Ellis, Nedyalko Petrov, Susanne Heck, Jonathan Michael Irish, PhD, Shahram Kordasti, MD PhD, Ghulam Mufti, DM, FRCP, FRCPath

Blood (2017) 130 (Supplement 1): 2958.

https://doi.org/10.1182/blood.V130.Suppl_1.2958.2958

Published: 2017

Journal Articles

Telomere Gene Complex Mutations Are Frequently Found with Shortened Telomeres in Bone Marrow Failure Syndromes and Idiopathic Pulmonary Fibrosis; Correlation with Haematological and Clinical Features

Shreyans A Gandhi, MD DNB, MRCP, FRCPath, Jie Jiang, PhD, Nana benson-Quarm, Syed A Mian, Steve Best, PhD, Austin Kulasekararaj, Judith C Marsh, MD, Ghulam Mufti, MD DM, FRCP, FRCPath

Blood (2014) 124 (21): 2935.

https://doi.org/10.1182/blood.V124.21.2935.2935

Published: 2014

Journal Articles

Telomerase Gene Complex Mutations Are Common in Myelodysplastic Syndromes Patients

Mariam Ibañez, PhD, Jie Jiang, PhD, Shreyans Gandhi, MBBS,MDMNAMS, Mian Syed, Alexander E Smith, Steve Best, PhD, Nicholas Lea, Azim M Mohamedali, Momin Ahmed, Judith C. W. Marsh, Austin G Kulasekararaj, Ghulam J Mufti, FRCP, FRCPath, MD

Blood (2014) 124 (21): 1899.

https://doi.org/10.1182/blood.V124.21.1899.1899

Published: 2014

Journal Articles

HBS1L-MYB intergenic Variants Modulate Fetal Hemoglobin Via Long-Range MYB Enhancers

Ralph Stadhouders, BSc, Suleyman Aktuna, BSc, Supat Thongjuea, PhD, Ali Aghajanirefah, PhD, Farzin Pourfarzad, PhD, Wilfred van Ijcken, PhD, Boris Lenhard, PhD, Helen Rooks, BSc, Steve Best, PhD, Stephan Menzel, MD, Frank Grosveld, PhD, Swee Lay Thein, MBBS, DSc, Eric Soler, PhD

Blood (2013) 122 (21): 43.

https://doi.org/10.1182/blood.V122.21.43.43

Published: 2013

Journal Articles

The HBS1L-MYB intergenic interval associated with elevated HbF levels shows characteristics of a distal regulatory region in erythroid cells

Karin Wahlberg, Jie Jiang, Helen Rooks, Kiran Jawaid, Fumihiko Matsuda, Masao Yamaguchi, Mark Lathrop, Swee Lay Thein, Steve Best

Blood (2009) 114 (6): 1254–1262.

https://doi.org/10.1182/blood-2009-03-210146

Published: 2009

Includes: Supplemental data

Journal Articles

Functional Characterisation of a MYB-HBS1L Intergenic Region Controlling Fetal Hemoglobin Levels in Adults

Karin E Wahlberg, MSc, Jie Jiang, BSc, PhD, Helen Rooks, BSc, Steve Best, BSc, PhD, Swee Lay Thein

Blood (2008) 112 (11): 488.

https://doi.org/10.1182/blood.V112.11.488.488

Published: 2008

Journal Articles

Intergenic Variants of HBS1L-MYB Are Responsible for a Major Quantitative Trait Locus on Chromosome 6q23 Influencing HbF Levels in Adults.

Swee Lay Thein, FRCP, DSc, Stephan Menzel, MD, Xu Peng, MD, Steve Best, BSc,PhD, Jie Jiang, BSc,PhD, James Close, BSc,DPhil, Nicholas Silver, BSc,MSc, Ageliki Gerovasilli, BSc, Chen Ping, MD, Masao Yamaguchi, MD, Karin Wahlberg, BSc, Heike Muller, BSc, Tim D. Spector, MD, Chad Garner, BSc,DPhil, Fumihiko Matsuda, MD, Martin Farrall, MD, Mark Lathrop, PhD

Blood (2006) 108 (11): 652.

https://doi.org/10.1182/blood.V108.11.652.652

Published: 2006

Journal Articles

cMYB is involved in the regulation of fetal hemoglobin production in adults

Jie Jiang, Steve Best, Stephan Menzel, Nicholas Silver, Mei I. Lai, Gabriela L. Surdulescu, Tim D. Spector, Swee Lay Thein

Blood (2006) 108 (3): 1077–1083.

https://doi.org/10.1182/blood-2006-01-008912

Published: 2006

Includes: Supplemental data

Journal Articles

Two Candidate Genes for Low Platelet Count Identified by Genome-Wide Linkage Analysis: Glycoprotein IX and Thrombopoietin.

Swee Lay Thein, MD, DSc, Steve Best, BSc, PhD, Stephan Menzel, MD, Helen Rooks, BSc, Tim D. Spector, MD, Chad Garner, BSc, PhD

Blood (2005) 106 (11): 2160.

https://doi.org/10.1182/blood.V106.11.2160.2160

Published: 2005

Journal Articles

AHSP Is a Quantitative Trait Gene That Modifies the Phenotype of β Thalassemia.

Mei I. Lai, BSc, Jie Jiang, BSc, PhD, Nicholas Silver, BSc, MSc, Steve Best, BSc, PhD, Stephan Menzel, MD, Chad Garner, BSc, PhD, Mitchell J. Weiss, MD, PhD, Swee Lay Thein, MD, DSc

Blood (2005) 106 (11): 3638.

https://doi.org/10.1182/blood.V106.11.3638.3638

Published: 2005

Journal Articles

Heterogeneity of the εγδβ Thalassemias: Characterization of 3 Novel English Deletions.

Helen Rooks, BSc, Jean Bergounioux, MD, Laurence Game, PhD, James P. Close, DPhil, Steve Best, PhD, Tania Senior, BSc, Susan Height, MD, Thompson Richard, MD, Hadzic Nedim, MD, Paula Bolton-Maggs, MD, Swee Lay Thein, MD

Blood (2004) 104 (11): 3609.

https://doi.org/10.1182/blood.V104.11.3609.3609

Published: 2004

Journal Articles

Quantitative trait locus on chromosome 8q influences the switch from fetal to adult hemoglobin

Chad Garner, Nicholas Silver, Steve Best, Stephan Menzel, Charlotte Martin, Tim D. Spector, Swee Lay Thein

Blood (2004) 104 (7): 2184–2186.

https://doi.org/10.1182/blood-2004-02-0527

Published: 2004

NARROW

Correlation between the Integrated MDS Flow Cytometry Score and Genomic Abnormalities - a Single Centre Analysis from King's College Hospital

A Dedicated System Accounting for Specific Germline/Somatic Genomic Constellations Is Essential to Predict Outcomes in DDX41 -Mutant Myeloid Neoplasia

Impact of Somatic Second Hit and Comutations in Myeloid Neoplasms with Germline DDX41 Mutations

Outcome Prediction in DDX41 -Mutant Myelodysplastic Syndromes Is Not Possible with General Disease Schemes and Requires a Dedicated Risk Scoring System

Germ line DDX41 mutations define a unique subtype of myeloid neoplasms

Germline Risks and Clinical Impacts of DDX41 Mutations in Myeloid Malignancies

Neoantigens in MDS Are Associated with Two Novel CD4+ T Cell Subsets and Improved Overall Survival

Telomere Gene Complex Mutations Are Frequently Found with Shortened Telomeres in Bone Marrow Failure Syndromes and Idiopathic Pulmonary Fibrosis; Correlation with Haematological and Clinical Features

Telomerase Gene Complex Mutations Are Common in Myelodysplastic Syndromes Patients

HBS1L-MYB intergenic Variants Modulate Fetal Hemoglobin Via Long-Range MYB Enhancers

The HBS1L-MYB intergenic interval associated with elevated HbF levels shows characteristics of a distal regulatory region in erythroid cells

Functional Characterisation of a MYB-HBS1L Intergenic Region Controlling Fetal Hemoglobin Levels in Adults

Intergenic Variants of HBS1L-MYB Are Responsible for a Major Quantitative Trait Locus on Chromosome 6q23 Influencing HbF Levels in Adults.

cMYB is involved in the regulation of fetal hemoglobin production in adults

Two Candidate Genes for Low Platelet Count Identified by Genome-Wide Linkage Analysis: Glycoprotein IX and Thrombopoietin.

AHSP Is a Quantitative Trait Gene That Modifies the Phenotype of β Thalassemia.

Heterogeneity of the εγδβ Thalassemias: Characterization of 3 Novel English Deletions.

Quantitative trait locus on chromosome 8q influences the switch from fetal to adult hemoglobin

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American Society of Hematology

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