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Journal Articles

The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia

Blood (2023) 141 (23): 2853–2866.

https://doi.org/10.1182/blood.2022019425

Published: 2023

Includes: Supplemental data

Journal Articles

Inherited bone marrow failure in the pediatric patient

Inderjeet Dokal, Hemanth Tummala, Tom Vulliamy

Blood (2022) 140 (6): 556–570.

https://doi.org/10.1182/blood.2020006481

Published: 2022

Journal Articles

Multinational Study on the Clinical and Genetic Features of the ERCC6L2-Disease

Marja Hakkarainen, Suvi P. M. Douglas, Tom Vulliamy, Inderjeet Dokal, Jean Soulier, Lise Larcher, Riitta Niinimäki, Timo Siitonen, Eva Hellstrom Lindberg, Gisela Barbany, Bianca Tesi, Amir Asher Kuperman, Hannah Tamary, Sharon Jackson, Outi Kilpivaara, Ulla Wartiovaara-Kautto

Blood (2021) 138 (Supplement 1): 864.

https://doi.org/10.1182/blood-2021-145039

Published: 2021

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

Myeloid Malignancy Variant Curation Expert Panel: An ASH-Sponsored Clingen Expert Panel to Optimize and Validate Acmg/AMP Variant Interpretation Guidelines for Genes Associated with Inherited Myeloid Neoplasms

Blood (2018) 132 (Supplement 1): 5849.

https://doi.org/10.1182/blood-2018-99-118979

Published: 2018

Journal Articles

Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita–like phenotypes

Hemanth Tummala, Laura C. Collopy, Amanda J. Walne, Alicia Ellison, Shirleny Cardoso, Tekin Aksu, Nese Yarali, Deniz Aslan, Rüştü Fikret Akata, Juliana Teo, Zhou Songyang, Nikolas Pontikos, Jude Fitzgibbon, Kazunori Tomita, Tom Vulliamy, Inderjeet Dokal

Blood (2018) 132 (12): 1349–1353.

https://doi.org/10.1182/blood-2018-03-837799

Published: 2018

Includes: Supplemental data

Journal Articles

Variable Penetrance Is Linked with Monoallelic Gene Expression in Inherited GATA2 -Mutated MDS/AML

Ahad Al Seraihi, BSc, MSc, Ana Rio-Machin, BSc, MSc, PhD, Kiran Tawana, MD PhD, Csaba Bödör, BSc, PhD, Shamzah Araf, MD, James A Heward, BSc, PhD, Matthew Smith, MBBS, MA, MRCP, MRCPath, MD, Sameena Iqbal, Steven Best, PhD, Nicholas Lea, PhD, Donal McLornan, MB, Bch (Hons), PhD MRCP, FRCPath, Alicia Ellison, BSc, Hemanth Tummala, PhD, Shirleny Romualdo Cardoso, BSc, Jamie D. Cavenagh, Tom Vulliamy, FRCPath, Inderjeet Dokal, MD FRCPCH, FRCPath, FMedSci, Jude Fitzgibbon

Blood (2016) 128 (22): 3916.

https://doi.org/10.1182/blood.V128.22.3916.3916

Published: 2016

Journal Articles

Telomere Lengths Correlate With Inflammatory Markers In Sickle Cell Disease

Emma Drasar, MBBS MRCP, Jie Jiang, PhD, Kate Gardner, MA, MBBS, MRCP, Jo Howard, MB, BChir, MRCP, FRCPath, Tom Vulliamy, FRCPath, Nisha Vasavda, BSc(Hons), Swee Lay Thein, DSc, FRCP, FRCPath, FMedSci

Blood (2013) 122 (21): 2230.

https://doi.org/10.1182/blood.V122.21.2230.2230

Published: 2013

Journal Articles

Defective Telomerase in Familial Myelodysplasia and Leukemia

Michael Kirwan, Tom Vulliamy, Amanda J. Walne, Richard Beswick, Peter Hillmen, Richard Kelly, Andrew Stewart, David Bowen, Stefan Schonland, Annika Maria Whittle, Tony McVerry, Maria Gilleece, Inderjeet Dokal

Blood (2008) 112 (11): 849.

https://doi.org/10.1182/blood.V112.11.849.849

Published: 2008

Journal Articles

Low Dose Alemtuzumab Achieves Long-Term Engraftment with Low Level Mixed Chimerism in Related Haemopoietic Stem Cell Transplantation for Haemoglobinopathies

Josu de la Fuente, Farah O’Boyle, Natalie Killeen, Allison Tso, Helen New, Ayad Atra, Inderjeet Dokal, Tom Vulliamy, John Davis, Letizia Foroni, Richard M. Szydlo, Irene Roberts

Blood (2008) 112 (11): 3304.

https://doi.org/10.1182/blood.V112.11.3304.3304

Published: 2008

Journal Articles

TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes

Amanda J. Walne, Tom Vulliamy, Richard Beswick, Michael Kirwan, Inderjeet Dokal

Blood (2008) 112 (9): 3594–3600.

https://doi.org/10.1182/blood-2008-05-153445

Published: 2008

Journal Articles

Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome

Anna Marrone, Amanda Walne, Hannah Tamary, Yuka Masunari, Michael Kirwan, Richard Beswick, Tom Vulliamy, Inderjeet Dokal

Blood (2007) 110 (13): 4198–4205.

https://doi.org/10.1182/blood-2006-12-062851

Published: 2007

Journal Articles

Genome Wide Linkage Analysis Suggests Genetic Heterogeneity in Autosomal Recessive Dyskeratosis Congenita, with One Locus on Chromosome 15.

Amanda Walne, Tom Vulliamy, Anna Marrone, Inderjeet Dokal

Blood (2005) 106 (11): 1054.

https://doi.org/10.1182/blood.V106.11.1054.1054

Published: 2005

Journal Articles

Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency

Anna Marrone, David Stevens, Tom Vulliamy, Inderjeet Dokal, Philip J. Mason

Blood (2004) 104 (13): 3936–3942.

https://doi.org/10.1182/blood-2004-05-1829

Published: 2004

Journal Articles

A Novel hTERC Deletion Manifesting with Features of Dyskeratosis Congenita and Genetic Anticipation.

Stan Benke, D. S. Houston, Inderjeet Dokal, Tom Vulliamy

Blood (2004) 104 (11): 4157.

https://doi.org/10.1182/blood.V104.11.4157.4157

Published: 2004

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The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia

Inherited bone marrow failure in the pediatric patient

Multinational Study on the Clinical and Genetic Features of the ERCC6L2-Disease

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

Myeloid Malignancy Variant Curation Expert Panel: An ASH-Sponsored Clingen Expert Panel to Optimize and Validate Acmg/AMP Variant Interpretation Guidelines for Genes Associated with Inherited Myeloid Neoplasms

Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita–like phenotypes

Variable Penetrance Is Linked with Monoallelic Gene Expression in Inherited GATA2 -Mutated MDS/AML

Telomere Lengths Correlate With Inflammatory Markers In Sickle Cell Disease

Defective Telomerase in Familial Myelodysplasia and Leukemia

Low Dose Alemtuzumab Achieves Long-Term Engraftment with Low Level Mixed Chimerism in Related Haemopoietic Stem Cell Transplantation for Haemoglobinopathies

TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes

Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome

Genome Wide Linkage Analysis Suggests Genetic Heterogeneity in Autosomal Recessive Dyskeratosis Congenita, with One Locus on Chromosome 15.

Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency

A Novel hTERC Deletion Manifesting with Features of Dyskeratosis Congenita and Genetic Anticipation.

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