Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia

Mitochondrial respiratory chain disorders in childhood: Insights into diagnosis and management in the new era of genomic medicine

(2014) Minal J. Menezes et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

SuSPect: Enhanced Prediction of Single Amino Acid Variant (SAV) Phenotype Using Network Features

(2014) Christopher M. Yates et al.   JOURNAL OF MOLECULAR BIOLOGY

Mitochondrial form and function

(2014) Jonathan R. Friedman et al.   NATURE

Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency

(2013) Valérie Serre et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

A Mitochondrial Ribosomal and RNA Decay Pathway Blocks Cell Proliferation

(2013) Uwe Richter et al.   CURRENT BIOLOGY

Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy

(2013) Christopher J Carroll et al.   JOURNAL OF MEDICAL GENETICS

The ModFOLD4 server for the quality assessment of 3D protein models

(2013) Liam J. McGuffin et al.   NUCLEIC ACIDS RESEARCH

ParseCNV integrative copy number variation association software with quality tracking

(2013) Joseph T. Glessner et al.   NUCLEIC ACIDS RESEARCH

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia

(2013) Lisa G Riley et al.   Orphanet Journal of Rare Diseases

Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement

(2013) Kai Wang et al.   Genome Medicine

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

(2012) Pablo Cingolani et al.   FLY

AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival

(2012) Eva R. Almajan et al.   JOURNAL OF CLINICAL INVESTIGATION

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Human diseases with impaired mitochondrial protein synthesis

(2011) Agnès Rötig   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Detection of lineage-specific evolutionary changes among primate species

(2011) Mihaela Pertea et al.   BMC BIOINFORMATICS

Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy

(2011) Louise Galmiche et al.   HUMAN MUTATION

SDM--a server for predicting effects of mutations on protein stability and malfunction

(2011) C. L. Worth et al.   NUCLEIC ACIDS RESEARCH

UniProt Knowledgebase: a hub of integrated protein data

(2011) M. Magrane et al.   Database-The Journal of Biological Databases and Curation

Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome

(2010) Lisa G. Riley et al.   AMERICAN 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 Translation and Beyond: Processes Implicated in Combined Oxidative Phosphorylation Deficiencies

(2010) Paulien Smits et al.   JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY

Integrating common and rare genetic variation in diverse human populations

(2010)   NATURE

ConSurf 2010: calculating evolutionary conservation in sequence and structure of proteins and nucleic acids

(2010) H. Ashkenazy et al.   NUCLEIC ACIDS RESEARCH

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

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

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

SNP detection for massively parallel whole-genome resequencing

(2009) R. Li et al.   GENOME RESEARCH

SOAP: short oligonucleotide alignment program

(2008) R. Li et al.   BIOINFORMATICS

The effect of mutated mitochondrial ribosomal proteins S16 and S22 on the assembly of the small and large ribosomal subunits in human mitochondria

(2008) Md. Emdadul Haque et al.   MITOCHONDRION