Rare variants in known and novel candidate genes predisposing to statin-associated myopathy

Low Vitamin D Levels and Genetic Polymorphism in the Vitamin D Receptor are Associated with Increased Risk of Statin-Induced Myopathy

(2015) Marie-Louise Ovesjö et al.   BASIC & CLINICAL PHARMACOLOGY & TOXICOLOGY

Analysis of vitamin D levels in patients with and without statin-associated myalgia — A systematic review and meta-analysis of 7 studies with 2420 patients

(2015) Marta Michalska-Kasiczak et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Metabolic Myopathies

(2015) Perry Shieh et al.   SEMINARS IN NEUROLOGY

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness

(2015) S. Kmoch et al.   Nature Communications

Mechanisms and assessment of statin-related muscular adverse effects

(2014) Dirk Moßhammer et al.   BRITISH JOURNAL OF CLINICAL PHARMACOLOGY

Low Vitamin D as a Risk Factor for the Development of Myalgia in Patients Taking High-Dose Simvastatin: A Retrospective Review

(2014) Kari Mergenhagen et al.   CLINICAL THERAPEUTICS

Pharmacogenomics of statin therapy

(2014) Jemma C. Hopewell et al.   CURRENT OPINION IN LIPIDOLOGY

Statin-induced muscle toxicity and susceptibility to malignant hyperthermia and other muscle diseases: a population-based case-control study including 1st and 2nd degree relatives

(2014) Karin Hedenmalm et al.   EUROPEAN JOURNAL OF CLINICAL PHARMACOLOGY

Statins and the neuromuscular system: a neurologist's perspective

(2014) Z. Argov   EUROPEAN JOURNAL OF NEUROLOGY

Integrative Data Mining Highlights Candidate Genes for Monogenic Myopathies

(2014) Osorio Abath Neto et al.   PLoS One

The Roles of Vitamin D in Skeletal Muscle: Form, Function, and Metabolism

(2013) Christian M. Girgis et al.   ENDOCRINE REVIEWS

GEMINI: Integrative Exploration of Genetic Variation and Genome Annotations

(2013) Umadevi Paila et al.   PLoS Computational Biology

Dominant Mutation of CCDC78 in a Unique Congenital Myopathy with Prominent Internal Nuclei and Atypical Cores

(2012) Karen Majczenko et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CONTRA: copy number analysis for targeted resequencing

(2012) Jason Li et al.   BIOINFORMATICS

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver

(2012) Evita van de Steeg et al.   JOURNAL OF CLINICAL INVESTIGATION

Exome sequencing and the genetic basis of complex traits

(2012) Adam Kiezun et al.   NATURE GENETICS

Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene

(2011) Nigel F Clarke et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Organic Anion Transporting Polypeptide 1B1: a Genetically Polymorphic Transporter of Major Importance for Hepatic Drug Uptake

(2011) M. Niemi et al.   PHARMACOLOGICAL REVIEWS

Testing for an Unusual Distribution of Rare Variants

(2011) Benjamin M. Neale et al.   PLoS Genetics

Longitudinal trends in major cardiovascular risk factors in the Czech population between 1985 and 2007/8. Czech MONICA and Czech post-MONICA

(2010) Renata Cífková et al.   ATHEROSCLEROSIS

Common Nonsynonymous Substitutions in SLCO1B1 Predispose to Statin Intolerance in Routinely Treated Individuals With Type 2 Diabetes: A Go-DARTS Study

(2010) L A Donnelly et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Statin myopathy: a review of recent progress

(2010) Andrew L Mammen et al.   CURRENT OPINION IN RHEUMATOLOGY

Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

(2010) James R. Lupski et al.   NEW ENGLAND JOURNAL OF MEDICINE

The genetics of statin-induced myopathy

(2009) Abhijit Ghatak et al.   ATHEROSCLEROSIS

Statins and fenofibrate affect skeletal muscle chloride conductance in rats by differently impairing ClC-1 channel regulation and expression

(2009) S Pierno et al.   BRITISH JOURNAL OF PHARMACOLOGY

Human Skeletal Muscle Drug Transporters Determine Local Exposure and Toxicity of Statins

(2009) Michael J. Knauer et al.   CIRCULATION RESEARCH

SLCO1B1Variants and Statin-Induced Myopathy — A Genomewide Study

(2008)   NEW ENGLAND JOURNAL OF MEDICINE

GeneDistiller—Distilling Candidate Genes from Linkage Intervals

(2008) Dominik Seelow et al.   PLoS One