Author details

Full Name

Tom Vulliamy

Affiliation

Blizard Institute, Queen Mary University of London

ORCID

Career Start Year

1981

Papers

164

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36952636	The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia.	Blood	2023
35140362	Acquired somatic variants in inherited myeloid malignancies.	Leukemia	2022
35605178	Inherited bone marrow failure in the pediatric patient.	Blood	2022
35931051	Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita.	Am J Hum Genet	2022
36156210	Germline ERCC excision repair 6 like 2 (ERCC6L2) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment.	Br J Haematol	2022
34625797	Genome-wide whole-blood transcriptome profiling across inherited bone marrow failure subtypes.	Blood Adv	2021
33709208	High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders.	Hum Genet	2021
32636268	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
31991476	Laboratory diagnosis of G6PD deficiency. A British Society for Haematology Guideline.	Br J Haematol	2020
32098966	The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.	Nat Commun	2020
31570891	Germline NPM1 mutations lead to altered rRNA 2'-O-methylation and cause dyskeratosis congenita.	Nat Genet	2019
31648317	ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants.	Blood Adv	2019
29519864	Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease.	Haematologica	2018
29987015	Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic <i>ERCC6L2</i> variants.	Proc Natl Acad Sci U S A	2018
30064976	Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes.	Blood	2018
29749400	GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML.	Leukemia	2018
28039949	DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype.	Pediatr Allergy Immunol	2017
28334266	Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.	Bioinformatics	2017
28495916	Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies.	Haematologica	2017
28153869	Urinary prostanoids in preschool wheeze.	Eur Respir J	2017
27899602	The Human Phenotype Ontology in 2017.	Nucleic Acids Res	2017
27133828	Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia.	Leukemia	2016
27591803	Air pollution, ethnicity and telomere length in east London schoolchildren: An observational study.	Environ Int	2016
27612988	Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.	Haematologica	2016
27167335	Relative telomere lengths in tumor and normal mucosa are related to disease progression and chromosome instability profiles in colorectal cancer.	Oncotarget	2016
27346687	DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.	Am J Hum Genet	2016
27253413	A ribosome-related signature in peripheral blood CLL B cells is linked to reduced survival following treatment.	Cell Death Dis	2016
25182133	Clinical utility gene card for: Dyskeratosis congenita - update 2015.	Eur J Hum Genet	2015
25893599	Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita.	J Clin Invest	2015
26024875	Triallelic and epigenetic-like inheritance in human disorders of telomerase.	Blood	2015
24666270	Leucocyte telomere length in patients with sickle cell disease.	Br J Haematol	2014
25212745	Intermittent montelukast in children aged 10 months to 5 years with wheeze (WAIT trial): a multicentre, randomised, placebo-controlled trial.	Lancet Respir Med	2014
24763404	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
24507776	ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function.	Am J Hum Genet	2014
22899577	Mutations in the telomere capping complex in bone marrow failure and related syndromes.	Haematologica	2013
23782100	Haematological recovery in dyskeratosis congenita patients treated with danazol.	Br J Haematol	2013
23453664	Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.	Am J Hum Genet	2013
21199492	Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2.	Clin Genet	2012
23251486	Characterisation and validation of insertions and deletions in 173 patient exomes.	PLoS One	2012
23094712	Retinal vasculopathy in autosomal dominant dyskeratosis congenita due to TINF2 mutation.	Br J Haematol	2012
22814958	Limbal stem cell deficiency in patients with inherited stem cell disorder of dyskeratosis congenita.	Int Ophthalmol	2012
22533337	Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia.	Br J Haematol	2012
22541560	Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia.	Am J Hum Genet	2012
22341970	Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.	Am J Hum Genet	2012
22180433	Exome sequencing identifies MPL as a causative gene in familial aplastic anemia.	Haematologica	2012
21477209	Dyskeratosis congenita and the DNA damage response.	Br J Haematol	2011
22010916	Inflammatory skin and bowel disease linked to ADAM17 deletion.	N Engl J Med	2011
21931702	Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations.	PLoS One	2011
21610750	Clinical utility gene card for: dyskeratosis congenita.	Eur J Hum Genet	2011
20205257	Genomic instability in Hoyeraal-Hreidarsson syndrome.	Pediatr Blood Cancer	2010

1 - 50 of 164

Juli??n Nevado

Institute of Medical and Molecular Genetics

Career Start Year 1993

Number of shared co-authors 14

Rafa?? P??oski

Medical University of Warsaw

Career Start Year 1992

Number of shared co-authors 3

Andrea Haworth

UCL Queen Square Institute of Neurology

Career Start Year 1989

Number of shared co-authors 21

Sharon A Savage

Clinical Genetics Branch, National Cancer Institute (NCI)

Career Start Year 1988

Number of shared co-authors 9

Leslie G Biesecker

National Human Genome Research Institute, National Institutes of Health

Career Start Year 1987

Number of shared co-authors 10

Cindy L Vnencak-Jones

Vanderbilt University Medical Center

Career Start Year 1987

Number of shared co-authors 1

Juha Kere

Folkhalsan Research Center, University of Helsinki

Career Start Year 1987

Number of shared co-authors 4

Han G Brunner

Maastricht University Medical Centre

Career Start Year 1987

Number of shared co-authors 30

Hubert J M Smeets

Maastricht University Medical Centre+

Career Start Year 1987

Number of shared co-authors 5

David N Cooper

Institute of Medical Genetics, Cardiff University

Career Start Year 1983

Number of shared co-authors 6

Xavier Estivill

Sidra Medical Center

Career Start Year 1983

Number of shared co-authors 16

Thomas C Markello

National Institutes of Health

Career Start Year 1982

Number of shared co-authors 12

Thomas Meitinger

Technical University of Munich, Institute of Human Genetics

Career Start Year 1982

Number of shared co-authors 14

Johan T den Dunnen

Leiden University Medical Center

Career Start Year 1982

Number of shared co-authors 21

James R Lupski

Baylor College of Medicine

Career Start Year 1981

Number of shared co-authors 22

Wayne W Grody

David Geffen School of Medicine, university of california los angeles

Career Start Year 1980

Number of shared co-authors 5

Michael Dean

National Cancer Institute

Career Start Year 1980

Number of shared co-authors 2

John W Belmont

Baylor College of Medicine

Career Start Year 1979

Number of shared co-authors 5

Wendy H Raskind

University of Washington School of Medicine

Career Start Year 1978

Number of shared co-authors 3

Jack Goldblatt

King Edward Memorial Hospital for Women

Career Start Year 1978

Number of shared co-authors 17

Carolyn Sue Richards

Oregon Health & Science University (OHSU)

Career Start Year 1978

Number of shared co-authors 2

Graeme Suthers

University of Adelaide

Career Start Year 1977

Number of shared co-authors 5

Robert L Nussbaum

Invitae Corporation

Career Start Year 1976

Number of shared co-authors 9

John A Phillips

Vanderbilt University Medical Center

Career Start Year 1974

Number of shared co-authors 6

Asl??han Tolun

Istanbul Technical University

Career Start Year 1974

Number of shared co-authors 1

Alan F Scott

Johns Hopkins University School of Medicine

Career Start Year 1972

Number of shared co-authors 5

Jacques S Beckmann

University of Lausanne

Career Start Year 1970

Number of shared co-authors 22

John Christodoulou

University of Melbourne, The Royal Children's Hospital

Career Start Year 1969

Number of shared co-authors 10

Arthur L Beaudet

Baylor College of Medicine

Career Start Year 1968

Number of shared co-authors 6

Albert de la Chapelle

The Ohio State University Comprehensive Cancer Center

Career Start Year 1961

Number of shared co-authors 3

row(s) 1 - 30 of 30

Nikolas Pontikos

Moorfields Eye Hospital, UK UCL Institute of Ophthalmology, University College London

Co-authored papers 8

Ernest Beutler

The Scripps Research Institute

Co-authored papers 5

Jean Soulier

University of Paris

Co-authored papers 3

Daniel Greene

University of Cambridge

Co-authored papers 2

Mike Laffan

Co-authored papers 2

Julius O B Jacobsen

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 2

Valentina Cipriani

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 2

Jing Yu

University of Oxford

Co-authored papers 2

Melissa A Haendel

American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison

Co-authored papers 1

Julie A McMurry

University of Colorado - Anschutz Medical Campus

Co-authored papers 1

Philip L Beales

UCL Great Ormond Street Institute of Child Health, University College London

Co-authored papers 1

Ada Hamosh

Johns Hopkins University School of Medicine

Co-authored papers 1

Laureen E Connell

Co-authored papers 1