A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies

Mutations in NDUFB11, Encoding a Complex I Component of the Mitochondrial Respiratory Chain, Cause Microphthalmia with Linear Skin Defects Syndrome

(2015) Vanessa A. van Rahden et al.   AMERICAN JOURNAL OF HUMAN GENETICS

COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency

(2015) Gloria Brea-Calvo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss of Function Variants in Human PNPLA8 Encoding Calcium-Independent Phospholipase A2 γ Recapitulate the Mitochondriopathy of the Homologous Null Mouse

(2015) Carol J. Saunders et al.   HUMAN MUTATION

Whole exome sequencing of suspected mitochondrial patients in clinical practice

(2015) Saskia B. Wortmann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals

(2015) Masao Nagasaki et al.   Nature Communications

Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy

(2014) Robert Kopajtich et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Diagnosis and molecular basis of mitochondrial respiratory chain disorders: Exome sequencing for disease gene identification

(2014) A. Ohtake et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Trimmomatic: a flexible trimmer for Illumina sequence data

(2014) Anthony M. Bolger et al.   BIOINFORMATICS

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

(2014) Robert W. Taylor et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Discovery of the β-barrel–type RNA methyltransferase responsible forN6-methylation ofN6-threonylcarbamoyladenosine in tRNAs

(2014) Satoshi Kimura et al.   NUCLEIC ACIDS RESEARCH

Cryo-EM structure of the small subunit of the mammalian mitochondrial ribosome

(2014) P. S. Kaushal et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Overexpression of dilp2 causes nutrient-dependent semi-lethality in Drosophila

(2014) Yukiko Sato-Miyata et al.   Frontiers in Physiology

Targeted exome sequencing of suspected mitochondrial disorders

(2013) D. S. Lieber et al.   NEUROLOGY

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

SPAdes: A New Genome Assembly Algorithm and Its Applications to Single-Cell Sequencing

(2012) Anton Bankevich et al.   JOURNAL OF COMPUTATIONAL BIOLOGY

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

(2012) Tobias B Haack et al.   JOURNAL OF MEDICAL GENETICS

Mitochondrial disorders as windows into an ancient organelle

(2012) Scott B. Vafai et al.   NATURE

Next-generation sequencing for mitochondrial diseases: A wide diagnostic spectrum

(2012) Valeria Vasta et al.   PEDIATRICS INTERNATIONAL

Expression of Yeast NDI1 Rescues a Drosophila Complex I Assembly Defect

(2012) Jaehyoung Cho et al.   PLoS One

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

(2012) S. E. Calvo et al.   Science Translational Medicine

A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy

(2011) B.C. Mobley et al.   CLINICAL NEUROPATHOLOGY

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

(2011) Xiaoming Liu et al.   HUMAN MUTATION

Neuroaxonal Dystrophy in Calcium-Independent Phospholipase A2  Deficiency Results from Insufficient Remodeling and Degeneration of Mitochondrial and Presynaptic Membranes

(2011) G. Beck et al.   JOURNAL OF NEUROSCIENCE

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Haploinsufficiency of TAB2 Causes Congenital Heart Defects in Humans

(2010) Bernard Thienpont et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle

(2010) Paulien Smits et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy

(2010) Paulien Smits et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Mitochondrial and Nuclear Genomic Responses to Loss ofLRPPRCExpression

(2010) Vishal M. Gohil et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Two enzymes bound to one transfer RNA assume alternative conformations for consecutive reactions

(2010) Takuhiro Ito et al.   NATURE

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

(2010) Sarah E Calvo et al.   NATURE GENETICS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Id4, a New Candidate Gene for Senile Osteoporosis, Acts as a Molecular Switch Promoting Osteoblast Differentiation

(2010) Yoshimi Tokuzawa et al.   PLoS Genetics

Molecular Poltergeists: Mitochondrial DNA Copies (numts) in Sequenced Nuclear Genomes

(2010) Einat Hazkani-Covo et al.   PLoS Genetics

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Genetic Ablation of Calcium-independent Phospholipase A2γ Leads to Alterations in Hippocampal Cardiolipin Content and Molecular Species Distribution, Mitochondrial Degeneration, Autophagy, and Cognitive Dysfunction

(2009) David J. Mancuso et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: New patients and novel mutations

(2009) Ayman W. El-Hattab et al.   MOLECULAR GENETICS AND METABOLISM

G.P.3.07 Novel mutation in SUCLA2 gene: Encephalomyopathy, dystonia and deafness associated with mild methylmalonic aciduria and mtDNA depletions

(2009) A.E.N. Nascimento Osorio et al.   NEUROMUSCULAR DISORDERS

Biogenesis of glutaminyl-mt tRNAGln in human mitochondria

(2009) A. Nagao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Changes in Temperature Preferences and Energy Homeostasis in Dystroglycan Mutants

(2009) K.-i. Takeuchi et al.   SCIENCE

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

(2008) David J. Pagliarini et al.   CELL

Approaches to Finding the Molecular Basis of Mitochondrial Oxidative Phosphorylation Disorders

(2008) Denise M. Kirby et al.   Twin Research and Human Genetics

Dual-promoter lentiviral system allows inducible expression of noxious proteins in macrophages

(2007) Hui Pan et al.   JOURNAL OF IMMUNOLOGICAL METHODS