Published in Nat Genet on January 22, 2012
The telomere syndromes. Nat Rev Genet (2012) 4.01
CTC1 Mutations in a patient with dyskeratosis congenita. Pediatr Blood Cancer (2012) 2.14
Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans. Hum Mol Genet (2012) 1.77
CTC1 deletion results in defective telomere replication, leading to catastrophic telomere loss and stem cell exhaustion. EMBO J (2012) 1.65
Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1. Blood (2014) 1.64
Telomeres and age-related disease: how telomere biology informs clinical paradigms. J Clin Invest (2013) 1.58
Human CST promotes telomere duplex replication and general replication restart after fork stalling. EMBO J (2012) 1.47
Mutations in the telomere capping complex in bone marrow failure and related syndromes. Haematologica (2012) 1.45
Bone marrow failure and the telomeropathies. Blood (2014) 1.23
Human Stn1 protects telomere integrity by promoting efficient lagging-strand synthesis at telomeres and mediating C-strand fill-in. Cell Res (2012) 1.20
Genetic determinants of telomere length and risk of common cancers: a Mendelian randomization study. Hum Mol Genet (2015) 1.20
Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy. Transl Res (2013) 1.08
Genomic characterization of the inherited bone marrow failure syndromes. Semin Hematol (2013) 1.07
TRF1 negotiates TTAGGG repeat-associated replication problems by recruiting the BLM helicase and the TPP1/POT1 repressor of ATR signaling. Genes Dev (2014) 1.07
Cell biology of disease: Telomeropathies: an emerging spectrum disorder. J Cell Biol (2014) 1.07
A three-state model of telomere control over human proliferative boundaries. Curr Opin Cell Biol (2012) 1.04
Understanding telomere diseases through analysis of patient-derived iPS cells. Curr Opin Genet Dev (2013) 1.03
Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder. Br J Haematol (2015) 1.01
Molecular basis of telomere dysfunction in human genetic diseases. Nat Struct Mol Biol (2015) 0.97
Human TEN1 maintains telomere integrity and functions in genome-wide replication restart. J Biol Chem (2013) 0.95
Connecting complex disorders through biology. Nat Genet (2012) 0.95
CST for the grand finale of telomere replication. Nucleus (2013) 0.94
Molecular basis of telomere syndrome caused by CTC1 mutations. Genes Dev (2013) 0.92
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. Nat Genet (2016) 0.92
Late-onset leukoencephalopathy with cerebral calcifications and cysts: case report and review of the literature. BMC Neurol (2016) 0.92
A TIN2 dyskeratosis congenita mutation causes telomerase-independent telomere shortening in mice. Genes Dev (2014) 0.91
The molecular genetics of the telomere biology disorders. RNA Biol (2015) 0.91
The telomere capping complex CST has an unusual stoichiometry, makes multipartite interaction with G-Tails, and unfolds higher-order G-tail structures. PLoS Genet (2013) 0.91
Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus. Aging Cell (2013) 0.90
Response to androgen therapy in patients with dyskeratosis congenita. Br J Haematol (2014) 0.89
Mechanisms of telomere loss and their consequences for chromosome instability. Front Oncol (2012) 0.87
Adult-onset leukoencephalopathy, brain calcifications and cysts: a case report. J Med Case Rep (2013) 0.87
Telomere-regulating genes and the telomere interactome in familial cancers. Mol Cancer Res (2014) 0.87
MERISTEM DISORGANIZATION1 encodes TEN1, an essential telomere protein that modulates telomerase processivity in Arabidopsis. Plant Cell (2013) 0.85
ATR cooperates with CTC1 and STN1 to maintain telomeres and genome integrity in Arabidopsis. Mol Biol Cell (2012) 0.84
Cdk1 regulates the temporal recruitment of telomerase and Cdc13-Stn1-Ten1 complex for telomere replication. Mol Cell Biol (2013) 0.82
Telomere-end processing: mechanisms and regulation. Chromosoma (2013) 0.82
Regulating telomere length from the inside out: the replication fork model. Genes Dev (2016) 0.81
Telomere length in the two extremes of abnormal fetal growth and the programming effect of maternal arterial hypertension. Sci Rep (2015) 0.80
Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects. J Exp Med (2016) 0.79
Human CST Facilitates Genome-wide RAD51 Recruitment to GC-Rich Repetitive Sequences in Response to Replication Stress. Cell Rep (2016) 0.79
A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus. Genes Dev (2016) 0.79
Interplay between nonsense-mediated mRNA decay and DNA damage response pathways reveals that Stn1 and Ten1 are the key CST telomere-cap components. Cell Rep (2014) 0.79
Surprises from the chromosome front: lessons from Arabidopsis on telomeres and telomerase. Cold Spring Harb Symp Quant Biol (2013) 0.78
Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation. BMC Med Genet (2015) 0.78
CTC1 increases the radioresistance of human melanoma cells by inhibiting telomere shortening and apoptosis. Int J Mol Med (2014) 0.77
Structure and function of the telomeric CST complex. Comput Struct Biotechnol J (2016) 0.77
Leukoencephalopathy, cerebral calcifications and cysts: a family study. J Neurol (2014) 0.77
Suppression of STN1 enhances the cytotoxicity of chemotherapeutic agents in cancer cells by elevating DNA damage. Oncol Lett (2016) 0.76
Bilateral Proliferative Retinopathy Associated With Hoyeraal-Hreidarsson Syndrome, a Severe Form of Dyskeratosis Congenita. Ophthalmic Surg Lasers Imaging Retina (2016) 0.75
Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up. Pediatr Neurol (2015) 0.75
CTC1-mediated C-strand fill-in is an essential step in telomere length maintenance. Nucleic Acids Res (2017) 0.75
Beyond Telomerase: Telomere Instability as a Novel Target for Cancer Therapy. J Mol Genet Med (2013) 0.75
Cerebroretinal microangiopathy with calcifications and cysts: A case report. Medicine (Baltimore) (2017) 0.75
The shelterin complex and hematopoiesis. J Clin Invest (2016) 0.75
Sequential phosphorylation of CST subunits by different cyclin-Cdk1 complexes orchestrate telomere replication. Cell Cycle (2017) 0.75
Different requirements of functional telomeres in neural stem cells and terminally differentiated neurons. Genes Dev (2017) 0.75
The human CTC1/STN1/TEN1 complex regulates telomere maintenance in ALT cancer cells. Exp Cell Res (2017) 0.75
Control of Cellular Aging, Tissue Function, and Cancer by p53 Downstream of Telomeres. Cold Spring Harb Perspect Med (2017) 0.75
Flow cytometry and FISH to measure the average length of telomeres (flow FISH). Nat Protoc (2006) 4.00
RPA-like mammalian Ctc1-Stn1-Ten1 complex binds to single-stranded DNA and protects telomeres independently of the Pot1 pathway. Mol Cell (2009) 2.93
Conserved telomere maintenance component 1 interacts with STN1 and maintains chromosome ends in higher eukaryotes. Mol Cell (2009) 2.62
Telomeric strategies: means to an end. Annu Rev Genet (2010) 1.87
The genetics and clinical manifestations of telomere biology disorders. Genet Med (2010) 1.83
Evolution of CST function in telomere maintenance. Cell Cycle (2010) 1.81
A DNA polymerase-{alpha}{middle dot}primase cofactor with homology to replication protein A-32 regulates DNA replication in mammalian cells. J Biol Chem (2008) 1.77
CST meets shelterin to keep telomeres in check. Mol Cell (2010) 1.63
Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts: a new progressive disorder due to diffuse cerebral microangiopathy. Neurology (1996) 1.53
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC). Am J Med Genet A (2008) 1.44
Dyskeratosis congenita as a disorder of telomere maintenance. Mutat Res (2011) 1.35
Leukoencephalopathy, cerebral calcifications, and cysts: new observations. Neurology (2004) 1.33
A familial syndrome with coats' reaction retinal angiomas, hair and nail defects and intracranial calcification. Eye (Lond) (1988) 1.32
Conservation of telomere protein complexes: shuffling through evolution. Crit Rev Biochem Mol Biol (2009) 1.29
Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument. Neuropediatrics (2004) 1.29
Cerebroretinal microangiopathy with calcifications and cysts. Neurology (2006) 1.16
The mechanism of action of an accessory protein for DNA polymerase alpha/primase. J Biol Chem (1990) 1.14
Treatment of Gastrointestinal Bleeding in a Probable Case of Cerebroretinal Microangiopathy with Calcifications and Cysts. Mol Syndromol (2010) 0.92
Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet (2008) 15.51
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet (2006) 10.36
The zebrafish reference genome sequence and its relationship to the human genome. Nature (2013) 8.52
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet (2009) 8.30
Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. N Engl J Med (2005) 7.09
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nat Genet (2006) 6.15
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet (2009) 5.84
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res (2013) 5.66
HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase. Nature (2011) 5.28
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet (2006) 5.26
From psychogenic movement disorder to functional movement disorder: it's time to change the name. Mov Disord (2013) 4.77
ASPM is a major determinant of cerebral cortical size. Nat Genet (2002) 4.57
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
TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. Am J Hum Genet (2008) 4.12
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science (2008) 4.04
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci Transl Med (2012) 4.02
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. Nat Genet (2011) 3.97
Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita. Blood (2007) 3.86
Pharmacogenetics of morphine poisoning in a breastfed neonate of a codeine-prescribed mother. Lancet (2006) 3.72
Medical clinics versus usual care for patients with both diabetes and hypertension: a randomized trial. Ann Intern Med (2010) 3.70
Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology (2009) 3.61
The ketogenic diet for the treatment of childhood epilepsy: a randomised controlled trial. Lancet Neurol (2008) 3.51
A new human immunodeficiency virus derived from gorillas. Nat Med (2009) 3.47
Prednisolone or pentoxifylline for alcoholic hepatitis. N Engl J Med (2015) 3.47
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet (2007) 3.43
Randomized controlled trial of carvedilol versus variceal band ligation for the prevention of the first variceal bleed. Hepatology (2009) 3.20
Identification of microcephalin, a protein implicated in determining the size of the human brain. Am J Hum Genet (2002) 3.13
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet (2002) 3.09
Human chromosome 7: DNA sequence and biology. Science (2003) 3.02
Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. Science (2005) 2.92
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain (2012) 2.87
Lamin B1 duplications cause autosomal dominant leukodystrophy. Nat Genet (2006) 2.83
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA. Lancet (2003) 2.76
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet (2007) 2.74
Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome. Blood (2003) 2.73
Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.73
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet (2004) 2.72
Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. Am J Hum Genet (2004) 2.70
Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines. Mov Disord (2007) 2.68
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. Hum Mutat (2008) 2.66
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nat Genet (2012) 2.63
Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation. Arthritis Rheum (2013) 2.60
Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. AJNR Am J Neuroradiol (2002) 2.58
Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore) (2002) 2.51
Degos disease: a C5b-9/interferon-α-mediated endotheliopathy syndrome. Am J Clin Pathol (2011) 2.50
Neuropathology provides clues to the pathophysiology of Gaucher disease. Mol Genet Metab (2004) 2.46
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. Am J Hum Genet (2013) 2.42
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. Lancet Neurol (2013) 2.36
Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome. Hum Mol Genet (2002) 2.33
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. Ann Neurol (2012) 2.33
Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet (2005) 2.33
Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. Hum Mol Genet (2002) 2.33
Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med (2006) 2.28
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet (2008) 2.28