Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

Biallelic Mutations in TBCD , Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

(2016) Elisabetta Flex et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy

(2016) Antonella Sferra et al.   AMERICAN JOURNAL OF HUMAN GENETICS

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

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

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

(2015) Marcello Niceta et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygousOPA1mutation

(2015) Ronen Spiegel et al.   JOURNAL OF MEDICAL GENETICS

Validation of a MGM1/OPA1 chimeric gene for functional analysis in yeast of mutations associated with dominant optic atrophy

(2015) Cecilia Nolli et al.   MITOCHONDRION

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

(2015) C. Dong et al.   HUMAN MOLECULAR GENETICS

Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

(2014) Dominique Bonneau et al.   BRAIN

Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier

(2014) T. Bonifert et al.   BRAIN

‘Behr syndrome’ with OPA1 compound heterozygote mutations

(2014) Valerio Carelli et al.   BRAIN

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

(2014) Martin Kircher et al.   NATURE GENETICS

Mutations in ZBTB20 cause Primrose syndrome

(2014) Viviana Cordeddu et al.   NATURE GENETICS

Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy

(2013) Xiaowu Gai et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Uncommon Leber “Plus” Disease Associated With Mitochondrial Mutation m.11778G>A in a Premature Child

(2013) Stéphanie Paquay et al.   JOURNAL OF CHILD NEUROLOGY

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

(2012) Pablo Cingolani et al.   FLY

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients

(2012) Denise Cassandrini et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations

(2011) Christian P. Schaaf et al.   MOLECULAR GENETICS AND METABOLISM

Multi-system neurological disease is common in patients with OPA1 mutations

(2010) P. Yu-Wai-Man et al.   BRAIN

OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution

(2010) G. Elachouri et al.   GENOME RESEARCH

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

(2010) A. McKenna et al.   GENOME RESEARCH

Assaying ATP synthesis in cultured cells: A valuable tool for the diagnosis of patients with mitochondrial disorders

(2009) Teresa Rizza et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

GeneDistiller—Distilling Candidate Genes from Linkage Intervals

(2008) Dominik Seelow et al.   PLoS One

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

(2007) P. Amati-Bonneau et al.   BRAIN