MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

TheImmp2lmutation causes age-dependent degeneration of cerebellar granule neurons prevented by antioxidant treatment

(2015) Chunlian Liu et al.   AGING CELL

PMPCAmutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

(2015) Rebekah K. Jobling et al.   BRAIN

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

(2015) Anthony A. Philippakis et al.   HUMAN MUTATION

Quantitative Profiling for Substrates of the Mitochondrial Presequence Processing Protease Reveals a Set of Nonsubstrate Proteins Increased upon Proteotoxic Stress

(2015) Julia M. Burkhart et al.   JOURNAL OF PROTEOME RESEARCH

Left ventricular non-compaction cardiomyopathy

(2015) Jeffrey A Towbin et al.   LANCET

INTERMEDIATE CLEAVAGE PEPTIDASE55 Modifies Enzyme Amino Termini and Alters Protein Stability in Arabidopsis Mitochondria

(2015) Shaobai Huang et al.   PLANT PHYSIOLOGY

Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline

(2014) Jeffrey G Reid et al.   BMC BIOINFORMATICS

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disorders

(2014) Stefania Gimelli et al.   Molecular Cytogenetics

Do mitochondria contribute to left ventricular non-compaction cardiomyopathy? New findings from myocardium of patients with left ventricular non-compaction cardiomyopathy

(2013) Shenghua Liu et al.   MOLECULAR GENETICS AND METABOLISM

Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy

(2013) Guillermo Luxán et al.   NATURE MEDICINE

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Processing peptidases in mitochondria and chloroplasts

(2012) Pedro Filipe Teixeira et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

An integrative variant analysis suite for whole exome next-generation sequencing data

(2012) Danny Challis et al.   BMC BIOINFORMATICS

Sarcomere Gene Mutations in Isolated Left Ventricular Noncompaction Cardiomyopathy Do Not Predict Clinical Phenotype

(2011) Susanne Probst et al.   Circulation-Cardiovascular Genetics

Mitochondrial protein turnover: role of the precursor intermediate peptidase Oct1 in protein stabilization

(2011) F.-Nora Vögtle et al.   MOLECULAR BIOLOGY OF THE CELL

The N-end rule pathway and regulation by proteolysis

(2011) Alexander Varshavsky   PROTEIN SCIENCE

Whole-Genome Sequencing for Optimized Patient Management

(2011) M. N. Bainbridge et al.   Science Translational Medicine

Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities

(2011) Matthew N Bainbridge et al.   GENOME BIOLOGY

Severe familial left ventricular non-compaction cardiomyopathy due to a novel troponin T (TNNT2) mutation

(2010) Mark Luedde et al.   CARDIOVASCULAR RESEARCH

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

(2010) A. McKenna et al.   GENOME RESEARCH

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

(2010) John F. O’Toole et al.   JOURNAL OF CLINICAL INVESTIGATION

Left ventricular noncompaction is associated with mutations in the mitochondrial genome

(2010) Sha Tang et al.   MITOCHONDRION

Global Analysis of the Mitochondrial N-Proteome Identifies a Processing Peptidase Critical for Protein Stability

(2009) F.-Nora Vögtle et al.   CELL

Mutations in Sarcomere Protein Genes in Left Ventricular Noncompaction

(2008) Sabine Klaassen et al.   CIRCULATION