|
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
|