Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions

The yeast protein Mam33 functions in the assembly of the mitochondrial ribosome

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Systematic Multiomics Analysis of Alterations in C1QBP mRNA Expression and Relevance for Clinical Outcomes in Cancers

(2019) Subbroto Saha et al.   Journal of Clinical Medicine

Genotypes of chronic progressive external ophthalmoplegia in a large adult-onset cohort

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MtDNA-maintenance defects: syndromes and genes

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A novel de novo dominant mutation inISCUassociated with mitochondrial myopathy

(2017) Andrea Legati et al.   JOURNAL OF MEDICAL GENETICS

International Workshop:

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Correction: Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes

(2017) Bekim Sadikovic et al.   PLoS One

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

(2016) Andrea Legati et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Progressive External Ophthalmoplegia

(2016) Collin McClelland et al.   Current Neurology and Neuroscience Reports

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

SIFT missense predictions for genomes

(2015) Robert Vaser et al.   Nature Protocols

Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing

(2014) Yuan Xue et al.   GENETICS IN MEDICINE

Disease-targeted sequencing: a cornerstone in the clinic

(2013) Heidi L. Rehm   NATURE REVIEWS GENETICS

Exome sequencing as a tool for Mendelian disease gene discovery

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Electrophoresis techniques to investigate defects in oxidative phosphorylation

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