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Publications by Thomas Meitinger

ExomeChip-Wide Analysis of 95 626 Individuals Identifies 10 Novel Loci Associated With QT and JT Intervals

Circulation. Genomic and precision medicine

Cardiovascular Medicine

English

Molecular Diagnosis in Mitochondrial Complex I Deficiency Using Exome Sequencing

Journal of Medical Genetics

English

VARS2andTARS2Mutations in Patients With Mitochondrial Encephalomyopathies

English

Fatal Neonatal Encephalopathy and Lactic Acidosis Caused by a Homozygous Loss-Of-Function Variant in COQ9

European Journal of Human Genetics

English

Genome-Wide Association Meta-Analysis of 30,000 Samples Identifies Seven Novel Loci for Quantitative ECG Traits

European Journal of Human Genetics

English

Compound Heterozygous SPATA5 Variants in Four Families and Functional Studies of SPATA5 Deficiency

European Journal of Human Genetics

English

Pulver: An R Package for Parallel Ultra-Rapid P-Value Computation for Linear Regression Interaction Terms

BMC Bioinformatics

Applied Mathematics

Computer Science Applications

Structural Biology

Molecular Biology

English

Somatic Alterations Compromised Molecular Diagnosis of DOCK8 Hyper-IgE Syndrome Caused by a Novel Intronic Splice Site Mutation

Scientific Reports

Multidisciplinary

English

A Mutation Screening of Oncogenes, Tumor Suppressor Gene TP53 and Nuclear Encoded Mitochondrial Complex I Genes in Oncocytic Thyroid Tumors

Cancer Research

English

A Genome-Wide Perspective of Genetic Variation in Human Metabolism

Nature Genetics

English