The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita

Tom Vulliamy, Anna Marrone, Frederick D. Goldman, +4

Nature

Genome InstabilityEngineeringGenetic DisorderGeneticsRna Biology +5

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

Tom Vulliamy, Anna Marrone, Richard Szydlo, +3

Nature Genetics

Mendelian DisorderGenetic DisorderGeneticsDyskeratosis CongenitaClinical Genetics +7

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

Tom Vulliamy, Anna Marrone, S. W. Knight, +3

Blood

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

Tom Vulliamy, Richard Beswick, Michael Kirwan, +4

Proceedings of the National Academy of Sciences

Genome InstabilityShort TelomeresGenetic DisorderMedicineGenetics +10

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

Amanda J. Walne, Tom Vulliamy, Anna Marrone, +6

Human Molecular Genetics

Association between aplastic anaemia and mutations in telomerase RNA

Tom Vulliamy, Anna Marrone, Inderjeet Dokal, +1

The Lancet

ChromatinGenome InstabilityGenetic DisorderGeneticsMolecular Biology +4

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

Tom Vulliamy, Amanda J. Walne, Aroon Baskaradas, +3

Blood Cells Molecules and Diseases

ChromatinGenome InstabilityBone Marrow FailureGeneticsHematology +4

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

Anna Marrone, Amanda J. Walne, Hannah Tamary, +5

Blood

Bone Marrow FailureMendelian DisorderGenetic DisorderGeneticsInherited Metabolic Disease +11

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

Anna Marrone, David Stevens, Tom Vulliamy, +2

Blood

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

Michael Kirwan, Tom Vulliamy, Anna Marrone, +11

Human Mutation