Publications by authors named "Tom Vulliamy"

69Publications

A frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failure.

Proc Natl Acad Sci U S A 2020 07 7;117(29):17151-17155. Epub 2020 Jul 7.

Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, E1 2AT London, United Kingdom.

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http://dx.doi.org/10.1073/pnas.2002857117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7382244PMC
July 2020

Laboratory diagnosis of G6PD deficiency. A British Society for Haematology Guideline.

Br J Haematol 2020 04 28;189(1):24-38. Epub 2020 Jan 28.

BSH Task Force Representative, London, UK.

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http://dx.doi.org/10.1111/bjh.16366DOI Listing
April 2020

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

Blood 2018 09 31;132(12):1349-1353. Epub 2018 Jul 31.

Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.

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http://dx.doi.org/10.1182/blood-2018-03-837799DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6293869PMC
September 2018

Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease.

Haematologica 2018 07 8;103(7):e284-e287. Epub 2018 Mar 8.

Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Barts NHS Trust, UK.

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http://dx.doi.org/10.3324/haematol.2017.183855DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6029530PMC
July 2018

Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies.

Haematologica 2017 08 11;102(8):e293-e296. Epub 2017 May 11.

Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, UK.

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http://dx.doi.org/10.3324/haematol.2017.167056DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6643735PMC
August 2017

Urinary prostanoids in preschool wheeze.

Eur Respir J 2017 02 2;49(2). Epub 2017 Feb 2.

MRC and Asthma UK Centre in Allergic Mechanisms of Asthma, Blizard Institute, Queen Mary University of London, London, UK.

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http://dx.doi.org/10.1183/13993003.01390-2016DOI Listing
February 2017

Air pollution, ethnicity and telomere length in east London schoolchildren: An observational study.

Environ Int 2016 Nov 1;96:41-47. Epub 2016 Sep 1.

Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.

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http://dx.doi.org/10.1016/j.envint.2016.08.021DOI Listing
November 2016

DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.

Am J Hum Genet 2016 07 23;99(1):115-24. Epub 2016 Jun 23.

Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.05.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5005432PMC
July 2016

Clinical utility gene card for: Dyskeratosis congenita - update 2015.

Eur J Hum Genet 2015 Apr 3;23(4). Epub 2014 Sep 3.

Paediatric Research Center, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1038/ejhg.2014.170DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4667501PMC
April 2015

Targeted resequencing of 52 bone marrow failure genes in patients with aplastic anemia reveals an increased frequency of novel variants of unknown significance only in SLX4.

Haematologica 2014 Jul 24;99(7):e109-11. Epub 2014 Apr 24.

Centre for Paediatrics, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London Barts Health NHS Trust, London, UK.

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http://dx.doi.org/10.3324/haematol.2014.105320DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4077096PMC
July 2014

Leucocyte telomere length in patients with sickle cell disease.

Br J Haematol 2014 Jun 14;165(5):725-7. Epub 2014 Feb 14.

Department of Haematological Medicine, King's College Hospital NHS Foundation Trust, London, UK; Molecular Haematology, Division of Cancer Studies, King's College London School of Medicine, London, UK.

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http://dx.doi.org/10.1111/bjh.12776DOI Listing
June 2014

ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function.

Am J Hum Genet 2014 Feb;94(2):246-56

Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK; Barts Health NHS Trust, London E1 1BB, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S00029297140000
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http://dx.doi.org/10.1016/j.ajhg.2014.01.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928664PMC
February 2014

Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.

Am J Hum Genet 2013 Mar 28;92(3):448-53. Epub 2013 Feb 28.

Centre for Paediatrics, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Barts and The London Children's Hospital, London, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S00029297130007
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http://dx.doi.org/10.1016/j.ajhg.2013.02.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3591859PMC
March 2013

Retinal vasculopathy in autosomal dominant dyskeratosis congenita due to TINF2 mutation.

Br J Haematol 2012 Dec 24;159(5):498. Epub 2012 Oct 24.

Department of Haematology, Our Lady's Children's Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1111/bjh.12088DOI Listing
December 2012

Limbal stem cell deficiency in patients with inherited stem cell disorder of dyskeratosis congenita.

Int Ophthalmol 2012 Dec 20;32(6):615-22. Epub 2012 Jul 20.

Section of Hematology, Department of Pediatrics, Faculty of Medicine, Gazi University, Ankara, Turkey.

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http://dx.doi.org/10.1007/s10792-012-9611-8DOI Listing
December 2012

Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia.

Am J Hum Genet 2012 May 26;90(5):888-92. Epub 2012 Apr 26.

Barts and The London School of Medicine and Dentistry, Queen Mary, University of London, London, UK.

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http://dx.doi.org/10.1016/j.ajhg.2012.03.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3376490PMC
May 2012

Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia.

Br J Haematol 2012 Jul 26;158(2):242-248. Epub 2012 Apr 26.

Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Barts and The London Children's Hospital, London, UK.

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http://dx.doi.org/10.1111/j.1365-2141.2012.09136.xDOI Listing
July 2012

Exome sequencing identifies MPL as a causative gene in familial aplastic anemia.

Haematologica 2012 Apr 16;97(4):524-8. Epub 2011 Dec 16.

Centre for Paediatrics, Blizard Institute of Cell and Molecular Science, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, 4 Newark Street, London, UK.

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http://dx.doi.org/10.3324/haematol.2011.052787DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3347658PMC
April 2012

Inflammatory skin and bowel disease linked to ADAM17 deletion.

N Engl J Med 2011 Oct;365(16):1502-8

Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.

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http://dx.doi.org/10.1056/NEJMoa1100721DOI Listing
October 2011

Clinical utility gene card for: dyskeratosis congenita.

Eur J Hum Genet 2011 Nov 25;19(11). Epub 2011 May 25.

Centre for Paediatrics, Blizard Institute for Cell and Molecular Science, Barts and The London, 4 Newark Street, Whitechapel, London, UK.

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http://www.nature.com/articles/ejhg201190
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http://dx.doi.org/10.1038/ejhg.2011.90DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3198148PMC
November 2011

Dyskeratosis congenita and the DNA damage response.

Br J Haematol 2011 Jun 8;153(5):634-43. Epub 2011 Apr 8.

Centre for Paediatrics, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, 4 Newark Street, London, UK.

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http://dx.doi.org/10.1111/j.1365-2141.2011.08679.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3328754PMC
June 2011

Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome.

Hum Mol Genet 2010 Nov 3;19(22):4453-61. Epub 2010 Sep 3.

Centre for Paediatrics, Blizard Institute of Cell and Molecular Science, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Barts and The London Children’s Hospital, 4 Newark Street, London, UK.

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http://dx.doi.org/10.1093/hmg/ddq371DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2957322PMC
November 2010

Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia.

Hum Mutat 2009 Nov;30(11):1567-73

Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Barts and The London Children's Hospital, United Kingdom.

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http://dx.doi.org/10.1002/humu.21115DOI Listing
November 2009

Exogenous TERC alone can enhance proliferative potential, telomerase activity and telomere length in lymphocytes from dyskeratosis congenita patients.

Br J Haematol 2009 Mar 20;144(5):771-81. Epub 2008 Nov 20.

Centre for Paediatrics, Institute of Cell and Molecular Science, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.

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http://dx.doi.org/10.1111/j.1365-2141.2008.07516.xDOI Listing
March 2009

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

Blood 2008 Nov 30;112(9):3594-600. Epub 2008 Jul 30.

Centre for Paediatrics, Institute of Cell and Molecular Science, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Barts and The London Children's Hospital, London, United Kingdom.

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http://dx.doi.org/10.1182/blood-2008-05-153445DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2572788PMC
November 2008

Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita.

Proc Natl Acad Sci U S A 2008 Jun 3;105(23):8073-8. Epub 2008 Jun 3.

Academic Unit of Paediatrics, Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, London E12AT, United Kingdom.

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http://www.pnas.org/cgi/doi/10.1073/pnas.0800042105
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http://dx.doi.org/10.1073/pnas.0800042105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2430361PMC
June 2008

Inherited aplastic anaemias/bone marrow failure syndromes.

Blood Rev 2008 May 31;22(3):141-53. Epub 2007 Dec 31.

Academic Unit of Paediatrics, Institute of Cell and Molecular Science, Barts and The London School of Medicine and Dentistry, London, UK.

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http://dx.doi.org/10.1016/j.blre.2007.11.003DOI Listing
May 2008

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

Blood 2007 Dec 4;110(13):4198-205. Epub 2007 Sep 4.

Academic Unit of Paediatrics, Institute of Cell and Molecular Science, Barts and The London, Queen Mary's School of Medicine and Dentistry, London, UK.

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http://dx.doi.org/10.1182/blood-2006-12-062851DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2882230PMC
December 2007

Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations.

Haematologica 2007 Aug 20;92(8):1013-20. Epub 2007 Jul 20.

Academic Unit of Paediatrics, Institute of Cell and Molecular Science, Barts and The London,Queen Mary's School of Medicine and Dentistry, The Blizard Building, 4 Newark Street, London, E1 2AT, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2892775PMC
http://dx.doi.org/10.3324/haematol.11407DOI Listing
August 2007

Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10.

Hum Mol Genet 2007 Jul 16;16(13):1619-29. Epub 2007 May 16.

Academic Unit of Paediatrics, Institute of Cell and Molecular Science, Barts and The London, Queen Mary's School of Medicine and Dentistry, The Blizard Building, 4 Newark Street, London E1 2AT, UK.

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http://dx.doi.org/10.1093/hmg/ddm111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2882227PMC
July 2007

Dyskeratosis congenita.

Semin Hematol 2006 Jul;43(3):157-66

Department of Haematology, Division of Investigative Science, Faculty of Medicine, Imperial College, Hammersmith Hospital, London, UK.

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http://dx.doi.org/10.1053/j.seminhematol.2006.04.001DOI Listing
July 2006

Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation.

Blood 2006 Apr 6;107(7):2680-5. Epub 2005 Dec 6.

Department of Haematology, Hammersmith Hospital, Du Cane Rd, London, W12 ONN, United Kingdom.

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http://dx.doi.org/10.1182/blood-2005-07-2622DOI Listing
April 2006

Characterization of G6PD deficiency in southern Croatia: description of a new variant, G6PD Split.

J Hum Genet 2005 6;50(11):547-549. Epub 2005 Sep 6.

Molecular Biology Laboratory, School of Medicine, University of Split, Šoltanska 2, 21000, Split, Croatia.

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http://dx.doi.org/10.1007/s10038-005-0292-2DOI Listing
June 2006

Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.

Blood Cells Mol Dis 2005 May-Jun;34(3):257-63

Department of Haematology, Division of Investigative Science, Imperial College London, Hammersmith Hospital, London W12 ONN, UK.

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http://dx.doi.org/10.1016/j.bcmd.2004.12.008DOI Listing
October 2005

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

Blood 2004 Dec 19;104(13):3936-42. Epub 2004 Aug 19.

Department of Haematology, Division of Investigative Science, Imperial College London, Hammersmith Hospital, London, United Kingdom.

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http://dx.doi.org/10.1182/blood-2004-05-1829DOI Listing
December 2004

Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC.

Nat Genet 2004 May 18;36(5):447-9. Epub 2004 Apr 18.

Department of Haematology, Division of Investigative Science, Imperial College London, Hammersmith Hospital, DuCane Rd, London W12 ONN, UK.

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http://dx.doi.org/10.1038/ng1346DOI Listing
May 2004

Molecular diagnosis of Fanconi anemia and dyskeratosis congenita.

Methods Mol Med 2004 ;91:3-17

Department of Haematology, Imperial College, London, UK.

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http://dx.doi.org/10.1385/1-59259-433-6:3DOI Listing
December 2003

Dyskeratosis congenita: its link to telomerase and aplastic anaemia.

Blood Rev 2003 Dec;17(4):217-25

Department of Haematology-Division of Investigative Science, Faculty of Medicine, Imperial College, Hammersmith Hospital, Commonwealth Building, London, UK.

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http://dx.doi.org/10.1016/s0268-960x(03)00020-1DOI Listing
December 2003

Expression of Plasmodium falciparum G6PD-6PGL in laboratory parasites and in patient isolates in G6PD-deficient and normal Nigerian children.

Br J Haematol 2003 Aug;122(4):662-8

Department of Haematology, Division of Investigative Science, Faculty of Medicine, Imperial College School of Medicine, Hammersmith Hospital, London W12 0NN, UK.

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http://dx.doi.org/10.1046/j.1365-2141.2003.04397.xDOI Listing
August 2003

Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome).

Am J Med Genet A 2003 Jul;120A(2):261-5

Institut für Medizinische Genetik, Medizinische Fakultät Charité, Humboldt Universität zu Berlin, Germany.

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http://dx.doi.org/10.1002/ajmg.a.20138DOI Listing
July 2003

Combined glucose-6-phosphate dehydrogenase and glucosephosphate isomerase deficiency can alter clinical outcome.

Blood Cells Mol Dis 2003 May-Jun;30(3):258-63

Department of Haematology, Faculty of Medicine, Imperial College of Science Technology and Medicine, Hammersmith Hospital, London, UK.

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http://dx.doi.org/10.1016/s1079-9796(03)00027-5DOI Listing
March 2004

Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice.

Oncogene 2002 Oct;21(50):7740-4

Department of Internal Medicine, Div Hematology, Washington University School of Medicine, St Louis, Missouri, MO 63110, USA.

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http://dx.doi.org/10.1038/sj.onc.1205969DOI Listing
October 2002

Association between aplastic anaemia and mutations in telomerase RNA.

Lancet 2002 Jun;359(9324):2168-70

Department of Haematology, Division of Investigative Science, Faculty of Medicine, Imperial College of Science, Technology and Medicine, Hammersmith Hospital, London W12 0NN, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S01406736020908
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http://dx.doi.org/10.1016/S0140-6736(02)09087-6DOI Listing
June 2002

Hematologically important mutations: glucose-6-phosphate dehydrogenase.

Blood Cells Mol Dis 2002 Mar-Apr;28(2):93-103

Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, California 92037, USA.

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http://dx.doi.org/10.1006/bcmd.2002.0490DOI Listing
August 2003

Three major glucose-6-phosphate dehydrogenase-deficient polymorphic variants identified in Mazandaran state of Iran.

Br J Haematol 2002 Jun;117(3):763-4

Department of Biochemistry, School of Medical Sciences, Tarbiat Modarres University, PO Box 14115-331, Tehran, I.R. Iran.

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http://dx.doi.org/10.1046/j.1365-2141.2002.03483.xDOI Listing
June 2002