Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor

(2010) Daniele Ghezzi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Acyl-CoA Dehydrogenase 9 Is Required for the Biogenesis of Oxidative Phosphorylation Complex I

(2010) Jessica Nouws et al.   Cell Metabolism

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

(2010) Alexander Hoischen et al.   NATURE GENETICS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Down-regulation of Mitochondrial Acyl Carrier Protein in Mammalian Cells Compromises Protein Lipoylation and Respiratory Complex I and Results in Cell Death

(2009) Dejiang Feng et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Exome Sequencing of a Multigenerational Human Pedigree

(2009) Dale Hedges et al.   PLoS One

BFAST: An Alignment Tool for Large Scale Genome Resequencing

(2009) Nils Homer et al.   PLoS One

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

(2009) Murim Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Genome-wide Association Study Identifies Three Loci Associated with Mean Platelet Volume

(2008) Christa Meisinger et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Analysis of mitochondrial function in situ in permeabilized muscle fibers, tissues and cells

(2008) Andrey V Kuznetsov et al.   Nature Protocols