Anna Marrone

Author PubWeight™ 30.37^‹?›

Rank	Title	Journal	Year	PubWeight™‹?›
1	Progress and prospects in rat genetics: a community view.	Nat Genet	2008	6.01
2	Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC.	Nat Genet	2004	4.63
3	Association between aplastic anaemia and mutations in telomerase RNA.	Lancet	2002	4.02
4	Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation.	Blood	2005	3.30
5	Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.	Blood Cells Mol Dis	2005	3.12
6	Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10.	Hum Mol Genet	2007	2.61
7	Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita.	Proc Natl Acad Sci U S A	2008	2.37
8	Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia.	Hum Mutat	2009	1.78
9	Dyskeratosis congenita: a disorder of defective telomere maintenance?	Int J Hematol	2005	1.22
10	A mutation in a functional Sp1 binding site of the telomerase RNA gene (hTERC) promoter in a patient with Paroxysmal Nocturnal Haemoglobinuria.	BMC Blood Disord	2004	1.05
11	A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome.	Br J Haematol	2002	0.96