Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

(2016) Alice E. Davidson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

RAP: RNA-Seq Analysis Pipeline, a new cloud-based NGS web application

(2015) Mattia D'Antonio et al.   BMC GENOMICS

A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly

(2015) C. B. Jackson et al.   EUROPEAN JOURNAL OF PEDIATRICS

The 3′ addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1

(2015) Florin Sasarman et al.   HUMAN MOLECULAR GENETICS

The Role of Mitochondrial DNA in Mediating Alveolar Epithelial Cell Apoptosis and Pulmonary Fibrosis

(2015) Seok-Jo Kim et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins

(2015) Sarah E. Calvo et al.   NUCLEIC ACIDS RESEARCH

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

(2015) et al.   SCIENCE

Epithelial Cell Mitochondrial Dysfunction and PINK1 Are Induced by Transforming Growth Factor- Beta1 in Pulmonary Fibrosis

(2015) Avignat S. Patel et al.   PLoS One

Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation

(2014) Eon Joo Park et al.   Cell Metabolism

Accurate Proteome-wide Label-free Quantification by Delayed Normalization and Maximal Peptide Ratio Extraction, Termed MaxLFQ

(2014) Jürgen Cox et al.   MOLECULAR & CELLULAR PROTEOMICS

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Renal Fanconi syndrome: taking a proximal look at the nephron

(2014) Enriko D. Klootwijk et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Mistargeting of Peroxisomal EHHADH and Inherited Renal Fanconi's Syndrome

(2014) Enriko D. Klootwijk et al.   NEW ENGLAND JOURNAL OF MEDICINE

Drug-induced acid-base disorders

(2014) Daniel Kitterer et al.   PEDIATRIC NEPHROLOGY

Mutations in ANTXR1 Cause GAPO Syndrome

(2013) Viktor Stránecký et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The C8ORF38 homologue Sicily is a cytosolic chaperone for a mitochondrial complex I subunit

(2013) Ke Zhang et al.   JOURNAL OF CELL BIOLOGY

Drug-induced renal Fanconi syndrome

(2013) A. M. Hall et al.   QJM-AN INTERNATIONAL JOURNAL OF MEDICINE

GEMINI: Integrative Exploration of Genetic Variation and Genome Annotations

(2013) Umadevi Paila et al.   PLoS Computational Biology

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

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

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

(2012) Pablo Cingolani et al.   FLY

Copy number variation detection and genotyping from exome sequence data

(2012) N. Krumm et al.   GENOME RESEARCH

Early complex I assembly defects result in rapid turnover of the ND1 subunit

(2012) O. Zurita Rendon et al.   HUMAN MOLECULAR GENETICS

Understanding mitochondrial complex I assembly in health and disease

(2011) Masakazu Mimaki et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Kaviar: an accessible system for testing SNV novelty

(2011) Gustavo Glusman et al.   BIOINFORMATICS

Mutations in the Gene Encoding C8orf38 Block Complex I Assembly by Inhibiting Production of the Mitochondria-Encoded Subunit ND1

(2011) Matthew McKenzie et al.   JOURNAL OF MOLECULAR BIOLOGY

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

(2010) A. McKenna et al.   GENOME RESEARCH

Disorders of the Renal Proximal Tubule

(2010) Arend Bökenkamp et al.   NEPHRON PHYSIOLOGY

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

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

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

(2010) Eugene V. Davydov et al.   PLoS Computational Biology

TopHat: discovering splice junctions with RNA-Seq

(2009) Cole Trapnell et al.   BIOINFORMATICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Acute Tubular Dysfunction With Fanconi Syndrome: A New Manifestation of Mitochondrial Cytopathies

(2008) François-Guillaume Debray et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

(2008) David J. Pagliarini et al.   CELL

Phase Transfer Surfactant-Aided Trypsin Digestion for Membrane Proteome Analysis

(2008) Takeshi Masuda et al.   JOURNAL OF PROTEOME RESEARCH

Respiratory Active Mitochondrial Supercomplexes

(2008) Rebeca Acín-Pérez et al.   MOLECULAR CELL

MaxQuant enables high peptide identification rates, individualized p.p.b.-range mass accuracies and proteome-wide protein quantification

(2008) Jürgen Cox et al.   NATURE BIOTECHNOLOGY