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Anna Marrone

The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
2001 · Tom Vulliamy, Anna Marrone, et al. · Nature · 960
Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC
2004 · Tom Vulliamy, Anna Marrone, et al. · Nature Genetics · 461
Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation
2005 · Tom J. Vulliamy, Anna Marrone, et al. · Blood · 346
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Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita
2008 · Tom Vulliamy, Richard Beswick, et al. · Proceedings of the National Academy of Sciences · 334
Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10
2007 · Amanda J. Walne, Tom Vulliamy, et al. · Human Molecular Genetics · 316
Progress and prospects in rat genetics: a community view
2008 · Timothy J Aitman, John K Critser, et al. · Nature Genetics · 291
Association between aplastic anaemia and mutations in telomerase RNA
2002 · Tom Vulliamy, Anna Marrone, et al. · The Lancet · 278
Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure
2005 · Tom J. Vulliamy, Amanda Walne, et al. · Blood Cells Molecules and Diseases · 209
Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome
2007 · Anna Marrone, Amanda Walne, et al. · Blood · 177
Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency
2004 · Anna Marrone, David Stevens, et al. · Blood · 125
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Dyskeratosis congenita: telomerase, telomeres and anticipation
2005 · Anna Marrone, Amanda Walne, et al. · Current Opinion in Genetics & Development · 122
Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia
2009 · Michael Kirwan, Tom Vulliamy, et al. · Human Mutation · 109
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A novel DKC1 mutation, severe combined immunodeficiency (T+B–NK– SCID) and bone marrow transplantation in an infant with Hoyeraal–Hreidarsson syndrome
2002 · Fausto Cossu, Tom J. Vulliamy, et al. · British Journal of Haematology · 80
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Human Genome and Diseases:�Dyskeratosis congenita
2003 · A. Marrone, P. J. Mason · Cellular and Molecular Life Sciences · 73
Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations
2007 · A. Marrone, P. Sokhal, et al. · Haematologica · 67
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Dyskeratosis Congenita: A Disorder of Defective Telomere Maintenance?
2005 · Amanda J. Walne, Anna Marrone, et al. · International Journal of Hematology · 50
Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer
2004 · Anna Marrone, Inderjeet Dokal · Expert Reviews in Molecular Medicine · 46
A mutation in a functional Sp1 binding site of the telomerase RNA gene (hTERC) promoter in a patient with Paroxysmal Nocturnal Haemoglobinuria
2004 · W Nicol Keith, Tom Vulliamy, et al. · BMC Hematology · 35
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Programmed Cell Death and Senescence in Skeletal Muscle Stem Cells
2000 · KATHRYN WOODS, ANNA MARRONE, et al. · Annals of the New York Academy of Sciences · 13
Dyskeratosis congenita: a disorder of telomerase deficiency and its relationship to other diseases
2006 · Anna Marrone, Inderjeet Dokal · Expert Review of Dermatology · 7
The Genetic and Phenotypic Diversity of Dyskeratosis Congenita.
2004 · Thomas J. Vulliamy, Anna Marrone, et al. · Blood · 7
Genome Wide Linkage Analysis Suggests Genetic Heterogeneity in Autosomal Recessive Dyskeratosis Congenita, with One Locus on Chromosome 15.
2005 · Amanda Walne, Tom Vulliamy, et al. · Blood · 1
NiII, and ZnII Schiff Base Complexes: Telomeric G-quadruplex Stabilizers
2014 · Anna Marrone, Riccardo Bonsignore, et al. · Nova Science Publishers (Nova Science Publishers, Inc.)
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Growth control in skeletal muscle stem cells
2000 · A. F. Marrone, J. Smith · Biochemical Society Transactions
Works count: 27
Citation count: 4,107
H-index: 18
I10-index: 19
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