Polygenic basis and biomedical consequences of telomere length variation

Transcriptional characterization of human megakaryocyte polyploidization and lineage commitment

(2021) Fizzah A. Choudry et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Shaping human telomeres: from shelterin and CST complexes to telomeric chromatin organization

(2021) Ci Ji Lim et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

The use of two-sample methods for Mendelian randomization analyses on single large datasets

(2021) Cosetta Minelli et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank

(2021) Joseph D. Szustakowski et al.   NATURE GENETICS

Improved genetic prediction of complex traits from individual-level data or summary statistics

(2021) Qianqian Zhang et al.   Nature Communications

Genome-Wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length

(2020) Chen Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A robust and efficient method for Mendelian randomization with hundreds of genetic variants

(2020) Stephen Burgess et al.   Nature Communications

Loss of Human TGS1 Hypermethylase Promotes Increased Telomerase RNA and Telomere Elongation

(2020) Lu Chen et al.   Cell Reports

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Determinants of telomere length across human tissues

(2020) Kathryn Demanelis et al.   SCIENCE

Genetically predicted telomere length is associated with clonal somatic copy number alterations in peripheral leukocytes

(2020) Derek W. Brown et al.   PLoS Genetics

Age at Diagnosis of Type 2 Diabetes Mellitus and Associations With Cardiovascular and Mortality Risks

(2019) Naveed Sattar et al.   CIRCULATION

TSPYL5 Depletion Induces Specific Death of ALT Cells through USP7-Dependent Proteasomal Degradation of POT1

(2019) Harikleia Episkopou et al.   MOLECULAR CELL

Loci for human leukocyte telomere length in the Singaporean Chinese population and trans-ethnic genetic studies

(2019) Rajkumar Dorajoo et al.   Nature Communications

A global overview of pleiotropy and genetic architecture in complex traits

(2019) Kyoko Watanabe et al.   NATURE GENETICS

SMUG1 Promotes Telomere Maintenance through Telomerase RNA Processing

(2019) Penelope Kroustallaki et al.   Cell Reports

Genetically Increased Telomere Length and Aging-Related Traits in the U.K. Biobank

(2019) Kathryn Demanelis et al.   JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES

Nopp140-mediated concentration of telomerase in Cajal bodies regulates telomere length

(2019) Jonathan Bizarro et al.   MOLECULAR BIOLOGY OF THE CELL

An Activity Switch in Human Telomerase Based on RNA Conformation and Shaped by TCAB1

(2018) Lu Chen et al.   CELL

Clonal analysis of lineage fate in native haematopoiesis

(2018) Alejo E. Rodriguez-Fraticelli et al.   NATURE

Reflections on telomere dynamics and ageing-related diseases in humans

(2018) Abraham Aviv et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

PANTHER version 14: more genomes, a new PANTHER GO-slim and improvements in enrichment analysis tools

(2018) Huaiyu Mi et al.   NUCLEIC ACIDS RESEARCH

Meta-analysis of non-linear exposure-outcome relationships using individual participant data: A comparison of two methods

(2018) Ian R. White et al.   STATISTICS IN MEDICINE

Genetic effects on gene expression across human tissues

(2017) François Aguet et al.   NATURE

Systematic analysis of telomere length and somatic alterations in 31 cancer types

(2017) Floris P Barthel et al.   NATURE GENETICS

Alternative Lengthening of Telomeres: DNA Repair Pathways Converge

(2017) Alexander P. Sobinoff et al.   TRENDS IN GENETICS

Telomere Length and Risk of Cancer and Non-neoplastic Diseases: Is Survivin the Ariadne's Thread?—Reply

(2017) Philip C. Haycock et al.   JAMA Oncology

FINEMAP: efficient variable selection using summary data from genome-wide association studies

(2016) Christian Benner et al.   BIOINFORMATICS

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

(2016) William J. Astle et al.   CELL

Consistent Estimation in Mendelian Randomization with Some Invalid Instruments Using a Weighted Median Estimator

(2016) Jack Bowden et al.   GENETIC EPIDEMIOLOGY

Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants

(2016) Ying Jin et al.   NATURE GENETICS

Proteomic Profiling Reveals a Specific Role for Translesion DNA Polymerase η in the Alternative Lengthening of Telomeres

(2016) Laura Garcia-Exposito et al.   Cell Reports

Mendelian randomization with invalid instruments: effect estimation and bias detection through Egger regression

(2015) J. Bowden et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Complex interactions between the DNA-damage response and mammalian telomeres

(2015) Nausica Arnoult et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

SLX4 contributes to telomere preservation and regulated processing of telomeric joint molecule intermediates

(2015) Jaya Sarkar et al.   NUCLEIC ACIDS RESEARCH

DNA-PKcs phosphorylates hnRNP-A1 to facilitate the RPA-to-POT1 switch and telomere capping after replication

(2015) Jiangdong Sui et al.   NUCLEIC ACIDS RESEARCH

Complex interactions between the DNA-damage response and mammalian telomeres

(2015) Nausica Arnoult et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Human Telomerase RNA Processing and Quality Control

(2015) Chi-Kang Tseng et al.   Cell Reports

Estimating Genome-Wide Significance for Whole-Genome Sequencing Studies

(2014) ChangJiang Xu et al.   GENETIC EPIDEMIOLOGY

Leukocyte telomere length associates with prospective mortality independent of immune-related parameters and known genetic markers

(2014) Joris Deelen et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Bayesian Test for Colocalisation between Pairs of Genetic Association Studies Using Summary Statistics

(2014) Claudia Giambartolomei et al.   PLoS Genetics

The Hallmarks of Aging

(2013) Carlos López-Otín et al.   CELL

Meta-analysis of telomere length in 19 713 subjects reveals high heritability, stronger maternal inheritance and a paternal age effect

(2013) Linda Broer et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mendelian Randomization Analysis With Multiple Genetic Variants Using Summarized Data

(2013) Stephen Burgess et al.   GENETIC EPIDEMIOLOGY

Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans

(2012) Massimo Mangino et al.   HUMAN MOLECULAR GENETICS

The telomere syndromes

(2012) Mary Armanios et al.   NATURE REVIEWS GENETICS

The Association of Telomere Length and Cancer: a Meta-analysis

(2011) I. M. Wentzensen et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Association of Marine Omega-3 Fatty Acid Levels With Telomeric Aging in Patients With Coronary Heart Disease

(2010) Ramin Farzaneh-Far   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Telomerase reactivation reverses tissue degeneration in aged telomerase-deficient mice

(2010) Mariela Jaskelioff et al.   NATURE

SHQ1 is required prior to NAF1 for assembly of H/ACA small nucleolar and telomerase RNPs

(2009) P. N. Grozdanov et al.   RNA

Identification of ATPases Pontin and Reptin as Telomerase Components Essential for Holoenzyme Assembly

(2008) Andrew S. Venteicher et al.   CELL

Biological ageing and cardiovascular disease

(2008) N. J Samani et al.   HEART