Published in Haematologica on August 16, 2012
Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. Hum Genet (2013) 2.10
Tracking and fixed ranking of leukocyte telomere length across the adult life course. Aging Cell (2013) 1.17
Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome. Proc Natl Acad Sci U S A (2013) 1.13
Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy. Transl Res (2013) 1.08
Outcomes of allogeneic hematopoietic cell transplantation in patients with dyskeratosis congenita. Biol Blood Marrow Transplant (2013) 1.07
Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1. Genes Dev (2014) 1.07
Cell biology of disease: Telomeropathies: an emerging spectrum disorder. J Cell Biol (2014) 1.07
A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome. PLoS Genet (2013) 1.05
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
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
Telomere dynamics in mice and humans. Semin Hematol (2013) 0.92
The molecular genetics of the telomere biology disorders. RNA Biol (2015) 0.91
Telomere biology and translational research. Transl Res (2013) 0.90
Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus. Aging Cell (2013) 0.90
Inherited bone marrow failure syndromes in adolescents and young adults. Ann Med (2014) 0.88
The diagnosis and treatment of dyskeratosis congenita: a review. J Blood Med (2014) 0.86
MERISTEM DISORGANIZATION1 encodes TEN1, an essential telomere protein that modulates telomerase processivity in Arabidopsis. Plant Cell (2013) 0.85
Human CST abundance determines recovery from diverse forms of DNA damage and replication stress. Cell Cycle (2014) 0.83
A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome. Blood (2013) 0.83
The Shelterin TIN2 Subunit Mediates Recruitment of Telomerase to Telomeres. PLoS Genet (2015) 0.82
Telomere-end processing: mechanisms and regulation. Chromosoma (2013) 0.82
Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects. J Exp Med (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
A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus. Genes Dev (2016) 0.79
Bone marrow skeletal stem/progenitor cell defects in dyskeratosis congenita and telomere biology disorders. Blood (2014) 0.78
STN1 OB Fold Mutation Alters DNA Binding and Affects Selective Aspects of CST Function. PLoS Genet (2016) 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
Structure and function of the telomeric CST complex. Comput Struct Biotechnol J (2016) 0.77
CTC1-mediated C-strand fill-in is an essential step in telomere length maintenance. Nucleic Acids Res (2017) 0.75
Gene dosage reductions of Trf1 and/or Tin2 induce telomere DNA damage and lymphoma formation in aging mice. Leukemia (2015) 0.75
Beyond Telomerase: Telomere Instability as a Novel Target for Cancer Therapy. J Mol Genet Med (2013) 0.75
Multiple Mechanisms Contribute to the Cell Growth Defects Imparted by Human Telomerase Insertion in Fingers Domain Mutations Associated with Premature Aging Diseases. J Biol Chem (2016) 0.75
Commentary. Clin Chem (2013) 0.75
Sequential phosphorylation of CST subunits by different cyclin-Cdk1 complexes orchestrate telomere replication. Cell Cycle (2017) 0.75
The human CTC1/STN1/TEN1 complex regulates telomere maintenance in ALT cancer cells. Exp Cell Res (2017) 0.75
A method and server for predicting damaging missense mutations. Nat Methods (2010) 78.53
How shelterin protects mammalian telomeres. Annu Rev Genet (2008) 11.20
Telomere length measurement by a novel monochrome multiplex quantitative PCR method. Nucleic Acids Res (2009) 6.42
Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. Blood (2005) 3.30
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
CTC1 Mutations in a patient with dyskeratosis congenita. Pediatr Blood Cancer (2012) 2.14
The genetics and clinical manifestations of telomere biology disorders. Genet Med (2010) 1.83
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nat Genet (2012) 1.82
Evolution of CST function in telomere maintenance. Cell Cycle (2010) 1.81
Telomere length is associated with disease severity and declines with age in dyskeratosis congenita. Haematologica (2011) 1.71
CTC1 deletion results in defective telomere replication, leading to catastrophic telomere loss and stem cell exhaustion. EMBO J (2012) 1.65
Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts. Am J Hum Genet (2012) 1.54
Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita. Ophthalmology (2009) 1.47
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC). Am J Med Genet A (2008) 1.44
Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. Hum Mol Genet (2010) 1.40
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
Beyond average: potential for measurement of short telomeres. Aging (Albany NY) (2012) 1.12
Similarities and differences between "uncapped" telomeres and DNA double-strand breaks. Chromosoma (2011) 1.05
Connecting complex disorders through biology. Nat Genet (2012) 0.95
An emerging role for the conserved telomere component 1 (CTC1) in human genetic disease. Pediatr Blood Cancer (2012) 0.89
Intracranial calcification, retinopathy, and osteopenia: a new syndrome? Pediatr Neurol (2002) 0.84
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet (2009) 5.84
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
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nat Genet (2006) 2.97
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet (2012) 2.86
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nat Genet (2012) 2.63
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
Inflammatory skin and bowel disease linked to ADAM17 deletion. N Engl J Med (2011) 2.41
Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. Proc Natl Acad Sci U S A (2008) 2.37
Delineation of the motor disorder of Lesch-Nyhan disease. Brain (2006) 2.30
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). Hum Mutat (2007) 2.24
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet (2013) 2.06
Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. Blood (2007) 1.93
Persistent mitochondrial dysfunction in HIV-1-exposed but uninfected infants: clinical screening in a large prospective cohort. AIDS (2003) 1.88
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. Am J Hum Genet (2008) 1.86
Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. Hum Mol Genet (2010) 1.83
Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations. Haematologica (2007) 1.80
Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia. Hum Mutat (2009) 1.78
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. Am J Hum Genet (2013) 1.71
Aberrant 3' oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia. Blood (2012) 1.68
Adhesion of Streptococcus pneumoniae to human airway epithelial cells exposed to urban particulate matter. J Allergy Clin Immunol (2011) 1.60
Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency. Blood (2004) 1.60
Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases. Am J Med Genet A (2010) 1.53
Brain magnetic resonance imaging pattern and outcome in children with haemolytic-uraemic syndrome and neurological impairment treated with eculizumab. Dev Med Child Neurol (2013) 1.48
Respiratory chain deficiency in a female with Aicardi-Goutières syndrome. Dev Med Child Neurol (2006) 1.41
Cerebral haemorrhagic risk in children with sickle-cell disease. Dev Med Child Neurol (2014) 1.40
Hemiconvulsion-hemiplegia syndrome revisited: longitudinal MRI findings in 10 children. Dev Med Child Neurol (2013) 1.40
Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. Hum Mol Genet (2010) 1.40
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. Neurology (2012) 1.35
LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood. Hum Mutat (2010) 1.34
Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice. Oncogene (2002) 1.31
Dyskeratosis congenita: its link to telomerase and aplastic anaemia. Blood Rev (2003) 1.29
Inherited aplastic anaemias/bone marrow failure syndromes. Blood Rev (2007) 1.26
The role of the G6PD AEth376G/968C allele in glucose-6-phosphate dehydrogenase deficiency in the seerer population of Senegal. Haematologica (2006) 1.26
Consensus statement on standard of care for congenital muscular dystrophies. J Child Neurol (2010) 1.22
Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia. Br J Haematol (2012) 1.22
Early onset collagen VI myopathies: Genetic and clinical correlations. Ann Neurol (2010) 1.21
Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations. Epilepsia (2011) 1.18
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. Am J Med Genet A (2015) 1.17
Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome). Am J Med Genet A (2003) 1.16
Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis. Dev Med Child Neurol (2009) 1.15
Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression. Hum Mol Genet (2009) 1.13
Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome. Eur J Hum Genet (2008) 1.12
Misleading behavioural phenotype with adenylosuccinate lyase deficiency. Eur J Hum Genet (2008) 1.10
Early electro-clinical features may contribute to diagnosis of the anti-NMDA receptor encephalitis in children. Clin Neurophysiol (2013) 1.10
Inherited bone marrow failure syndromes. Haematologica (2010) 1.09
Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome. Hum Mutat (2008) 1.08
Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita. Am J Hum Genet (2012) 1.07
Exogenous TERC alone can enhance proliferative potential, telomerase activity and telomere length in lymphocytes from dyskeratosis congenita patients. Br J Haematol (2008) 1.06
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
Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia. Am J Hum Genet (2012) 1.05
Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndrome. Pediatr Res (2008) 1.04
Two-year general and neurodevelopmental outcome after neonatal complex cardiac surgery in patients with deletion 22q11.2: a comparative study. J Thorac Cardiovasc Surg (2007) 1.04
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression. Orphanet J Rare Dis (2013) 1.01
A FOXG1 mutation in a boy with congenital variant of Rett syndrome. Neurogenetics (2010) 1.01
Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria. Eur J Hum Genet (2012) 1.00
Cigarette smoke and platelet-activating factor receptor dependent adhesion of Streptococcus pneumoniae to lower airway cells. Thorax (2012) 0.98
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient. Orphanet J Rare Dis (2012) 0.97
MRI findings in 77 children with non-syndromic autistic disorder. PLoS One (2009) 0.96
Epilepsy in Menkes disease: analysis of clinical stages. Epilepsia (2006) 0.96
Respiratory chain defects may present only with hypoglycemia. J Clin Endocrinol Metab (2005) 0.96
Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations. Haematologica (2008) 0.95
Exome sequencing identifies MPL as a causative gene in familial aplastic anemia. Haematologica (2011) 0.93
Treatment and outcome of children and adolescents with N-methyl-D-aspartate receptor encephalitis. J Neurol (2015) 0.92
Haematological recovery in dyskeratosis congenita patients treated with danazol. Br J Haematol (2013) 0.92
Dyskeratosis congenita and the DNA damage response. Br J Haematol (2011) 0.92
Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy. Proc Natl Acad Sci U S A (2012) 0.91
A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element. Hum Mutat (2007) 0.91
Ketogenic diet also benefits Dravet syndrome patients receiving stiripentol: a prospective pilot study. Epilepsia (2011) 0.91
Clinical utility gene card for: dyskeratosis congenita. Eur J Hum Genet (2011) 0.91
Tumor-like enlargement of the optic chiasm in an infant with Alexander disease. Brain Dev (2008) 0.90
Characterisation and validation of insertions and deletions in 173 patient exomes. PLoS One (2012) 0.89
Characterization of G6PD deficiency in southern Croatia: description of a new variant, G6PD Split. J Hum Genet (2005) 0.89
Management of West syndrome in a patient with methylmalonic aciduria. J Child Neurol (2009) 0.89
Epileptic phenotypes in children with respiratory chain disorders. Epilepsia (2010) 0.85
Fat-loaded HepG2 spheroids exhibit enhanced protection from Pro-oxidant and cytokine induced damage. J Cell Biochem (2007) 0.85
Massive and exclusive pontocerebellar damage in mitochondrial disease and NUBPL mutations. Neurology (2012) 0.85
Progressive muscular dystrophies. Handb Clin Neurol (2013) 0.84
Cerebral vasculitis in severe Kawasaki disease: early detection by magnetic resonance imaging and good outcome after intensive treatment. Dev Med Child Neurol (2012) 0.83
Opsoclonus-myoclonus in children associated or not with neuroblastoma. Eur J Paediatr Neurol (2010) 0.83
Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect. J Inherit Metab Dis (2011) 0.83
Early diffusion-weighted magnetic resonance imaging in children after cardiac arrest may provide valuable prognostic information on clinical outcome. Intensive Care Med (2013) 0.83
Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4. Brain (2011) 0.83
Leucocyte telomere length in patients with sickle cell disease. Br J Haematol (2014) 0.82
Unusual magnetic resonance imaging features in Menkes disease. Brain Dev (2008) 0.82
[Spinal muscular atrophy. A 4-year prospective, multicenter, longitudinal study (168 cases)]. Bull Acad Natl Med (2005) 0.82
Testicular mixed germ cell tumor in an adolescent with cowden disease. Oncology (2007) 0.82
Diaphragmatic weakness with progressive sensory and motor polyneuropathy: case report of a neonatal IGHMBP2-related neuropathy. J Child Neurol (2012) 0.81
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias. Orphanet J Rare Dis (2013) 0.80
Circulating haematopoietic progenitors are differentially reduced amongst subtypes of dyskeratosis congenita. Br J Haematol (2008) 0.80
Severe variant of x-linked dyskeratosis congenita (Hoyeraal-Hreidarsson Syndrome) causes significant enterocolitis in early infancy. J Pediatr Gastroenterol Nutr (2009) 0.80