Published in N Engl J Med on April 07, 2005
Danazol for Genetic Bone Marrow and Lung Disorders | NCT01441037
Nandrolone Decanoate in the Treatment of Telomeropathies | NCT02055456
Personal omics profiling reveals dynamic molecular and medical phenotypes. Cell (2012) 12.32
Adult-onset pulmonary fibrosis caused by mutations in telomerase. Proc Natl Acad Sci U S A (2007) 5.95
Telomere shortening in familial and sporadic pulmonary fibrosis. Am J Respir Crit Care Med (2008) 5.82
Performance comparison of whole-genome sequencing platforms. Nat Biotechnol (2011) 5.79
Telomere diseases. N Engl J Med (2009) 5.68
A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma. Am J Hum Genet (2009) 5.62
Current concepts in the pathophysiology and treatment of aplastic anemia. Blood (2006) 5.20
Linking functional decline of telomeres, mitochondria and stem cells during ageing. Nature (2010) 5.02
A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33. Nat Genet (2010) 4.89
Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proc Natl Acad Sci U S A (2005) 4.64
Ribosomopathies: human disorders of ribosome dysfunction. Blood (2010) 4.43
Genome-wide association study of hematological and biochemical traits in a Japanese population. Nat Genet (2010) 4.36
TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. Am J Hum Genet (2008) 4.12
The telomere syndromes. Nat Rev Genet (2012) 4.01
Short telomeres are a risk factor for idiopathic pulmonary fibrosis. Proc Natl Acad Sci U S A (2008) 3.86
Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita. Blood (2007) 3.86
Danazol Treatment for Telomere Diseases. N Engl J Med (2016) 3.39
Mapping genetic loci that determine leukocyte telomere length in a large sample of unselected female sibling pairs. Am J Hum Genet (2006) 3.25
Pathophysiology and management of inherited bone marrow failure syndromes. Blood Rev (2010) 3.24
TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. Blood (2008) 3.02
Telomere length and mortality: a study of leukocytes in elderly Danish twins. Am J Epidemiol (2008) 2.85
TPP1 OB-fold domain controls telomere maintenance by recruiting telomerase to chromosome ends. Cell (2012) 2.74
Principles of adoptive T cell cancer therapy. J Clin Invest (2007) 2.65
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
Syndromes of telomere shortening. Annu Rev Genomics Hum Genet (2009) 2.60
Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology. Proc Natl Acad Sci U S A (2010) 2.47
Dyskeratosis congenita. Hematol Oncol Clin North Am (2009) 2.45
Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia. Proc Natl Acad Sci U S A (2009) 2.44
Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. Proc Natl Acad Sci U S A (2008) 2.37
Human diseases of telomerase dysfunction: insights into tissue aging. Nucleic Acids Res (2007) 2.34
Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits. Blood (2006) 2.22
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Current status of genome-wide association studies in cancer. Hum Genet (2011) 2.14
Sex hormones, acting on the TERT gene, increase telomerase activity in human primary hematopoietic cells. Blood (2009) 2.12
Telomere length homeostasis. Chromosoma (2006) 2.12
Telomere length and heredity: Indications of paternal inheritance. Proc Natl Acad Sci U S A (2005) 2.10
Telomere maintenance and human bone marrow failure. Blood (2008) 2.09
Advances in the understanding of dyskeratosis congenita. Br J Haematol (2009) 2.05
TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements. Blood (2008) 1.99
Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita. Genes Dev (2011) 1.98
Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. Blood (2007) 1.93
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The 5p15.33 locus is associated with risk of lung adenocarcinoma in never-smoking females in Asia. PLoS Genet (2010) 1.90
The genetics and clinical manifestations of telomere biology disorders. Genet Med (2010) 1.83
Constitutional telomerase mutations are genetic risk factors for cirrhosis. Hepatology (2011) 1.77
Engineered telomere degradation models dyskeratosis congenita. Genes Dev (2008) 1.72
Mammalian Rap1 controls telomere function and gene expression through binding to telomeric and extratelomeric sites. Nat Cell Biol (2010) 1.69
The telomerase database. Nucleic Acids Res (2007) 1.69
Telomerase gene therapy in adult and old mice delays aging and increases longevity without increasing cancer. EMBO Mol Med (2012) 1.66
Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1. Blood (2014) 1.64
Dyskeratosis congenita, stem cells and telomeres. Biochim Biophys Acta (2009) 1.62
Mutations in the SBDS gene in acquired aplastic anemia. Blood (2007) 1.62
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Telomerase and idiopathic pulmonary fibrosis. Mutat Res (2011) 1.59
Telomeres and age-related disease: how telomere biology informs clinical paradigms. J Clin Invest (2013) 1.58
Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase. Blood (2011) 1.57
A subset-based approach improves power and interpretation for the combined analysis of genetic association studies of heterogeneous traits. Am J Hum Genet (2012) 1.57
A spectrum of severe familial liver disorders associate with telomerase mutations. PLoS One (2009) 1.57
Collapse of telomere homeostasis in hematopoietic cells caused by heterozygous mutations in telomerase genes. PLoS Genet (2012) 1.57
A 'higher order' of telomere regulation: telomere heterochromatin and telomeric RNAs. EMBO J (2009) 1.56
The role of telomere biology in bone marrow failure and other disorders. Mech Ageing Dev (2007) 1.56
The telomerase activator TA-65 elongates short telomeres and increases health span of adult/old mice without increasing cancer incidence. Aging Cell (2011) 1.55
The association of telomere length and genetic variation in telomere biology genes. Hum Mutat (2010) 1.53
The genetics of dyskeratosis congenita. Cancer Genet (2011) 1.50
InTERTpreting telomerase structure and function. Nucleic Acids Res (2010) 1.47
Pot1b deletion and telomerase haploinsufficiency in mice initiate an ATR-dependent DNA damage response and elicit phenotypes resembling dyskeratosis congenita. Mol Cell Biol (2008) 1.46
Subclinical lung disease, macrocytosis, and premature graying in kindreds with telomerase (TERT) mutations. Chest (2011) 1.42
Telomeres and disease. EMBO J (2009) 1.41
Multiple myeloma cancer stem cells. J Clin Oncol (2008) 1.39
Genome-wide association studies in cancer--current and future directions. Carcinogenesis (2009) 1.39
Identification and functional characterization of 2 variant alleles of the telomerase RNA template gene (TERC) in a patient with dyskeratosis congenita. Blood (2005) 1.37
A pathogenic dyskerin mutation impairs proliferation and activates a DNA damage response independent of telomere length in mice. Proc Natl Acad Sci U S A (2008) 1.37
It all comes together at the ends: telomerase structure, function, and biogenesis. Mutat Res (2011) 1.36
Dyskeratosis congenita. FEBS Lett (2010) 1.36
Dyskeratosis congenita as a disorder of telomere maintenance. Mutat Res (2011) 1.35
Telomeres, stem cells, and hematology. Blood (2008) 1.34
Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans. J Clin Invest (2010) 1.33
Hepatitis associated aplastic anemia: a review. Virol J (2011) 1.32
Emerging concepts in biomarker discovery; the US-Japan Workshop on Immunological Molecular Markers in Oncology. J Transl Med (2009) 1.31
Phenotypes in mTERT⁺/⁻ and mTERT⁻/⁻ mice are due to short telomeres, not telomere-independent functions of telomerase reverse transcriptase. Mol Cell Biol (2011) 1.31
Accelerated telomere shortening precedes development of therapy-related myelodysplasia or acute myelogenous leukemia after autologous transplantation for lymphoma. J Clin Oncol (2009) 1.29
Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis. PLoS Genet (2011) 1.29
Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. Blood (2007) 1.26
Reactive oxygen species and hematopoietic stem cell senescence. Int J Hematol (2011) 1.24
Bone marrow failure and the telomeropathies. Blood (2014) 1.23
Idiopathic pulmonary fibrosis: update on genetic discoveries. Proc Am Thorac Soc (2011) 1.23
Telomeres and immunological diseases of aging. Gerontology (2009) 1.22
Long-term outcome of pediatric patients with severe aplastic anemia treated with antithymocyte globulin and cyclosporine. J Pediatr (2008) 1.22
Dyskeratosis congenita: the first NIH clinical research workshop. Pediatr Blood Cancer (2009) 1.22
Short telomeres result in chromosomal instability in hematopoietic cells and precede malignant evolution in human aplastic anemia. Leukemia (2011) 1.21
Telomere restoration and extension of proliferative lifespan in dyskeratosis congenita fibroblasts. Aging Cell (2007) 1.20
Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity. Haematologica (2014) 1.20
Telomerase inhibition targets clonogenic multiple myeloma cells through telomere length-dependent and independent mechanisms. PLoS One (2010) 1.19
Inventory of telomerase components in human cells reveals multiple subpopulations of hTR and hTERT. Nucleic Acids Res (2014) 1.18
Telomerase at the intersection of cancer and aging. Trends Genet (2013) 1.16
Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations. PLoS One (2011) 1.16
Telomere length is inherited with resetting of the telomere set-point. Proc Natl Acad Sci U S A (2010) 1.15
A flexible template boundary element in the RNA subunit of fission yeast telomerase. J Biol Chem (2008) 1.15
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet (2007) 22.96
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet (2008) 22.35
Genome-wide association study of prostate cancer identifies a second risk locus at 8q24. Nat Genet (2007) 21.18
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
Multiple loci identified in a genome-wide association study of prostate cancer. Nat Genet (2008) 17.65
Identification of ten loci associated with height highlights new biological pathways in human growth. Nat Genet (2008) 16.25
Replicating genotype-phenotype associations. Nature (2007) 16.11
Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nat Genet (2008) 15.94
Prediction of survival in follicular lymphoma based on molecular features of tumor-infiltrating immune cells. N Engl J Med (2004) 12.20
Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet (2009) 10.34
Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24. Nat Genet (2007) 9.88
Estimation of effect size distribution from genome-wide association studies and implications for future discoveries. Nat Genet (2010) 9.07
A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). Nat Genet (2009) 8.39
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet (2013) 8.24
Telomerase mutations in families with idiopathic pulmonary fibrosis. N Engl J Med (2007) 8.23
Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet (2009) 7.30
The complement inhibitor eculizumab in paroxysmal nocturnal hemoglobinuria. N Engl J Med (2006) 6.90
Powerful SNP-set analysis for case-control genome-wide association studies. Am J Hum Genet (2010) 6.60
Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics. PLoS Genet (2008) 6.22
Adoptive transfer of effector CD8+ T cells derived from central memory cells establishes persistent T cell memory in primates. J Clin Invest (2008) 6.15
Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution. PLoS Genet (2009) 5.81
Performance of common genetic variants in breast-cancer risk models. N Engl J Med (2010) 5.79
Telomere diseases. N Engl J Med (2009) 5.68
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. Nat Genet (2013) 5.58
The mammalian SIR2alpha protein has a role in embryogenesis and gametogenesis. Mol Cell Biol (2003) 5.38
Current concepts in the pathophysiology and treatment of aplastic anemia. Blood (2006) 5.20
Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer. Nat Genet (2009) 5.14
A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33. Nat Genet (2010) 4.89
Telomeres and aging. Physiol Rev (2008) 4.79
ABO blood group and the risk of pancreatic cancer. J Natl Cancer Inst (2009) 4.72
SNP500Cancer: a public resource for sequence validation, assay development, and frequency analysis for genetic variation in candidate genes. Nucleic Acids Res (2006) 4.63
Deep molecular response is reached by the majority of patients treated with imatinib, predicts survival, and is achieved more quickly by optimized high-dose imatinib: results from the randomized CML-study IV. J Clin Oncol (2013) 4.50
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet (2013) 4.35
TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. Am J Hum Genet (2008) 4.12
Flow cytometry and FISH to measure the average length of telomeres (flow FISH). Nat Protoc (2006) 4.00
Hematopoietic-specific microRNA expression in human cells. Leuk Res (2005) 3.95
Eltrombopag and improved hematopoiesis in refractory aplastic anemia. N Engl J Med (2012) 3.93
A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci. Nat Genet (2010) 3.93
Antithymocyte globulin and cyclosporine for severe aplastic anemia: association between hematologic response and long-term outcome. JAMA (2003) 3.90
Short telomeres are a risk factor for idiopathic pulmonary fibrosis. Proc Natl Acad Sci U S A (2008) 3.86
Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita. Blood (2007) 3.86
Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer. JAMA (2012) 3.85
Horse versus rabbit antithymocyte globulin in acquired aplastic anemia. N Engl J Med (2011) 3.82
Genome-wide association studies identify four ER negative-specific breast cancer risk loci. Nat Genet (2013) 3.81
Identification of a new prostate cancer susceptibility locus on chromosome 8q24. Nat Genet (2009) 3.76
Detectable clonal mosaicism and its relationship to aging and cancer. Nat Genet (2012) 3.69
Detectable clonal mosaicism from birth to old age and its relationship to cancer. Nat Genet (2012) 3.68
A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma. Nat Genet (2010) 3.53
Disruption of dog-1 in Caenorhabditis elegans triggers deletions upstream of guanine-rich DNA. Nat Genet (2002) 3.50
SNP500Cancer: a public resource for sequence validation and assay development for genetic variation in candidate genes. Nucleic Acids Res (2004) 3.47
Somatic Mutations and Clonal Hematopoiesis in Aplastic Anemia. N Engl J Med (2015) 3.42
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Nat Genet (2010) 3.37
A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer. Nat Genet (2011) 3.37
Hybrid DNA virus in Chinese patients with seronegative hepatitis discovered by deep sequencing. Proc Natl Acad Sci U S A (2013) 3.35
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nat Genet (2013) 3.25
Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nat Genet (2012) 3.20
A common 8q24 variant in prostate and breast cancer from a large nested case-control study. Cancer Res (2007) 3.08
The landscape of recombination in African Americans. Nature (2011) 3.06
A new statistic and its power to infer membership in a genome-wide association study using genotype frequencies. Nat Genet (2009) 3.06
Genome-wide association studies identify loci associated with age at menarche and age at natural menopause. Nat Genet (2009) 3.06
Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study. J Natl Cancer Inst (2011) 3.05
Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3. Nat Genet (2010) 2.96
Regulation of murine telomere length by Rtel: an essential gene encoding a helicase-like protein. Cell (2004) 2.91
The Scientific Foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop. Genet Med (2009) 2.91
Cap binding and immune evasion revealed by Lassa nucleoprotein structure. Nature (2010) 2.87
Tumor necrosis factor (TNF) and lymphotoxin-alpha (LTA) polymorphisms and risk of non-Hodgkin lymphoma in the InterLymph Consortium. Am J Epidemiol (2010) 2.86
Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. PLoS Genet (2013) 2.83
FTO genotype is associated with phenotypic variability of body mass index. Nature (2012) 2.77
Multicenter phase 3 study of the complement inhibitor eculizumab for the treatment of patients with paroxysmal nocturnal hemoglobinuria. Blood (2007) 2.76
Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA. Lancet (2003) 2.76
Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome. Blood (2003) 2.73
Genomics: when the smoke clears ... Nature (2008) 2.72
Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium. Hum Mol Genet (2011) 2.72
Genome-wide association study of prostate cancer in men of African ancestry identifies a susceptibility locus at 17q21. Nat Genet (2011) 2.70
Distinct EBV and CMV reactivation patterns following antibody-based immunosuppressive regimens in patients with severe aplastic anemia. Blood (2006) 2.69
Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. Gastroenterology (2012) 2.57
Transforming epidemiology for 21st century medicine and public health. Cancer Epidemiol Biomarkers Prev (2013) 2.56
XMRV infection in patients with prostate cancer: novel serologic assay and correlation with PCR and FISH. Urology (2010) 2.55
DNA fingerprinting of the NCI-60 cell line panel. Mol Cancer Ther (2009) 2.53
Genome-wide association study identifies new prostate cancer susceptibility loci. Hum Mol Genet (2011) 2.51
Etiologic heterogeneity among non-Hodgkin lymphoma subtypes. Blood (2008) 2.49
In-vivo dominant immune responses in aplastic anaemia: molecular tracking of putatively pathogenetic T-cell clones by TCR beta-CDR3 sequencing. Lancet (2004) 2.47
A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. Hum Mol Genet (2012) 2.45
Variation in KLK genes, prostate-specific antigen and risk of prostate cancer. Nat Genet (2008) 2.45
How I treat acquired aplastic anemia. Blood (2012) 2.44
Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia. Proc Natl Acad Sci U S A (2009) 2.44