Published in Blood on May 03, 2007
Disease-specific induced pluripotent stem cells. Cell (2008) 16.95
Human diseases of telomerase dysfunction: insights into tissue aging. Nucleic Acids Res (2007) 2.34
Aplastic anemia. Curr Opin Hematol (2008) 2.17
Telomere maintenance and human bone marrow failure. Blood (2008) 2.09
When ribosomes go bad: diseases of ribosome biogenesis. Mol Biosyst (2010) 1.76
Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia. Br J Haematol (2009) 1.59
The role of telomere biology in bone marrow failure and other disorders. Mech Ageing Dev (2007) 1.56
Pluripotent stem cell models of Shwachman-Diamond syndrome reveal a common mechanism for pancreatic and hematopoietic dysfunction. Cell Stem Cell (2013) 1.10
Do ribosomopathies explain some cases of common variable immunodeficiency? Clin Exp Immunol (2010) 0.95
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Switching and signaling at the telomere. Cell (2001) 11.25
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature (2001) 7.95
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Current concepts in the pathophysiology and treatment of aplastic anemia. Blood (2006) 5.20
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Telomerase-negative immortalized human cells contain a novel type of promyelocytic leukemia (PML) body. Cancer Res (1999) 4.24
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Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita. Blood Cells Mol Dis (2001) 2.69
Distinct clinical outcomes for cytogenetic abnormalities evolving from aplastic anemia. Blood (2002) 2.10
The Shwachman-Diamond SBDS protein localizes to the nucleolus. Blood (2005) 1.95
The first molecular details of ALT in human tumor cells. Hum Mol Genet (2005) 1.93
Telomere length in leukocyte subpopulations of patients with aplastic anemia. Blood (2001) 1.89
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Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome. Blood (2004) 1.58
Functional characterization of natural telomerase mutations found in patients with hematologic disorders. Blood (2006) 1.57
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Impaired germinal center reaction in mice with short telomeres. EMBO J (2000) 1.39
Telomere length measurements in leukocyte subsets by automated multicolor flow-FISH. Cytometry A (2003) 1.36
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Dyskeratosis congenita. Semin Hematol (2006) 1.34
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Loss of the mouse ortholog of the shwachman-diamond syndrome gene (Sbds) results in early embryonic lethality. Mol Cell Biol (2006) 1.29
Abnormal telomere shortening in leucocytes of children with Shwachman-Diamond syndrome. Br J Haematol (2002) 1.19
The Shwachman-Bodian-Diamond syndrome gene encodes an RNA-binding protein that localizes to the pseudopod of Dictyostelium amoebae during chemotaxis. J Cell Sci (2006) 1.00
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
Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. N Engl J Med (2005) 7.09
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
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
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
A new statistic and its power to infer membership in a genome-wide association study using genotype frequencies. Nat Genet (2009) 3.06
The landscape of recombination in African Americans. Nature (2011) 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
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
The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast. Nat Genet (2007) 2.58
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
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
Comprehensive resequence analysis of a 136 kb region of human chromosome 8q24 associated with prostate and colon cancers. Hum Genet (2008) 2.41
Effect of the complement inhibitor eculizumab on thromboembolism in patients with paroxysmal nocturnal hemoglobinuria. Blood (2007) 2.36
Meta-analysis of new genome-wide association studies of colorectal cancer risk. Hum Genet (2011) 2.35