Deciphering the genetic and epidemiological landscape of mitochondrial DNA abundance

Blood contains circulating cell‐free respiratory competent mitochondria

(2020) Zahra Al Amir Dache et al.   FASEB JOURNAL

Platelet mtDNA content and leukocyte count influence whole blood mtDNA content

(2020) Hanjoo B. Shim et al.   MITOCHONDRION

Evaluation of mitochondrial DNA copy number estimation techniques

(2020) Ryan J. Longchamps et al.   PLoS One

Monogenic and polygenic inheritance become instruments for clonal selection

(2020) Po-Ru Loh et al.   NATURE

Exome sequencing and characterization of 49,960 individuals in the UK Biobank

(2020) Cristopher V. Van Hout et al.   NATURE

WebGestalt 2019: gene set analysis toolkit with revamped UIs and APIs

(2019) Yuxing Liao et al.   NUCLEIC ACIDS RESEARCH

Genetic predisposition to mosaic Y chromosome loss in blood

(2019) Deborah J. Thompson et al.   NATURE

A Frailty Index for UK Biobank Participants

(2018) Dylan M Williams et al.   JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES

Mixed-model association for biobank-scale datasets

(2018) Po-Ru Loh et al.   NATURE GENETICS

Peripheral blood mitochondrial DNA copy number obtained from genome-wide genotype data is associated with neurocognitive impairment in persons with chronic HIV infection

(2018) Todd Hulgan et al.   JAIDS-JOURNAL OF ACQUIRED IMMUNE DEFICIENCY SYNDROMES

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

Oldies but Goldies mtDNA Population Variants and Neurodegenerative Diseases

(2018) Patrick F. Chinnery et al.   Frontiers in Neuroscience

Estimating relative mitochondrial DNA copy number using high throughput sequencing data

(2017) Pan Zhang et al.   GENOMICS

2SNP heritability and effects of genetic variants for neutrophil-to-lymphocyte and platelet-to-lymphocyte ratio

(2017) Bochao Danae Lin et al.   JOURNAL OF HUMAN GENETICS

Genetic variations related to maternal whole blood mitochondrial DNA copy number: a genome-wide and candidate gene study

(2017) Tsegaselassie Workalemahu et al.   Journal of Maternal-Fetal & Neonatal Medicine

Functional mapping and annotation of genetic associations with FUMA

(2017) Kyoko Watanabe et al.   Nature Communications

Chronic lymphocytic leukaemia

(2017) Thomas J. Kipps et al.   Nature Reviews Disease Primers

Biological Age Predictors

(2017) Juulia Jylhävä et al.   EBioMedicine

Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record

(2017) Wei-Qi Wei et al.   PLoS One

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

(2016) William J. Astle et al.   CELL

Association between Mitochondrial DNA Copy Number in Peripheral Blood and Incident CKD in the Atherosclerosis Risk in Communities Study

(2016) A. Tin et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Reduced mitochondrial DNA copy number is a biomarker of Parkinson's disease

(2016) Angela Pyle et al.   NEUROBIOLOGY OF AGING

HaploGrep 2: mitochondrial haplogroup classification in the era of high-throughput sequencing

(2016) Hansi Weissensteiner et al.   NUCLEIC ACIDS RESEARCH

Mitochondrial DNA Copy Number in Peripheral Blood Cells and Risk of Developing Breast Cancer

(2015) A. Lemnrau et al.   CANCER RESEARCH

Peripheral blood mitochondrial DNA copy number, length heteroplasmy and breast cancer risk: a replication study

(2015) Jie Shen et al.   CARCINOGENESIS

Genetic Control over mtDNA and Its Relationship to Major Depressive Disorder

(2015) Na Cai et al.   CURRENT BIOLOGY

Tissue-specific mtDNA abundance from exome data and its correlation with mitochondrial transcription, mass and respiratory activity

(2015) Anna Maria D'Erchia et al.   MITOCHONDRION

UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age

(2015) Cathie Sudlow et al.   PLOS MEDICINE

Second-generation PLINK: rising to the challenge of larger and richer datasets

(2015) Christopher C Chang et al.   GigaScience

R PheWAS: data analysis and plotting tools for phenome-wide association studies in the R environment

(2014) Robert J. Carroll et al.   BIOINFORMATICS

Mitochondrial DNA Copy Number and Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma Risk in Two Prospective Studies

(2014) C. Kim et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Association of mitochondrial DNA levels with frailty and all-cause mortality

(2014) Foram N. Ashar et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels

(2014) Sonia López et al.   MITOCHONDRION

Quality control and conduct of genome-wide association meta-analyses

(2014) Thomas W Winkler et al.   Nature Protocols

Association of mitochondrial DNA copy number in peripheral blood leukocytes with risk of esophageal adenocarcinoma

(2013) E. Xu et al.   CARCINOGENESIS

The Hallmarks of Aging

(2013) Carlos López-Otín et al.   CELL

Mitochondrial DNA Copy Number Is Associated with Breast Cancer Risk

(2013) Bharat Thyagarajan et al.   PLoS One

Mechanisms of Obesity-Induced Inflammation and Insulin Resistance: Insights into the Emerging Role of Nutritional Strategies

(2013) Maeve A. McArdle et al.   Frontiers in Endocrinology

Oxidative phosphorylation differences between mitochondrial DNA haplogroups modify the risk of Leber's hereditary optic neuropathy

(2012) Aurora Gómez-Durán et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Mitochondrial Copy Number is Associated with Colorectal Cancer Risk

(2012) B. Thyagarajan et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Haplotype-based profiling of subtle allelic imbalance with SNP arrays

(2012) S. Vattathil et al.   GENOME RESEARCH

Annotation of functional variation in personal genomes using RegulomeDB

(2012) A. P. Boyle et al.   GENOME RESEARCH

Mitochondrial genomes gleaned from human whole-exome sequencing

(2012) Ernesto Picardi et al.   NATURE METHODS

Molecular signatures database (MSigDB) 3.0

(2011) A. Liberzon et al.   BIOINFORMATICS

The Mitochondrial Proteome and Human Disease

(2010) Sarah E. Calvo et al.   Annual Review of Genomics and Human Genetics

Oestrogens ameliorate mitochondrial dysfunction in Leber’s hereditary optic neuropathy

(2010) Carla Giordano et al.   BRAIN

Common variations in PSMD3–CSF3 and PLCB4 are associated with neutrophil count

(2010) Yukinori Okada et al.   HUMAN MOLECULAR GENETICS

Association between a common mitochondrial DNA D-loop polycytosine variant and alteration of mitochondrial copy number in human peripheral blood cells

(2010) C.-W. Liou et al.   JOURNAL OF MEDICAL GENETICS

The continuum of ovarian aging and clinicopathologies associated with the menopausal transition

(2010) Edward J. Nejat et al.   MATURITAS

Defining menopausal status in epidemiologic studies: A comparison of multiple approaches and their effects on breast cancer rates

(2010) Amanda I. Phipps et al.   MATURITAS

Mitochondrial copy number and risk of breast cancer: A pilot study

(2009) Jie Shen et al.   MITOCHONDRION

A prospective study of mitochondrial DNA copy number and risk of non-Hodgkin lymphoma

(2008) Q. Lan et al.   BLOOD