Whole exome sequencing of suspected mitochondrial patients in clinical practice

TBR1is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion

(2014) Orazio Palumbo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Diagnosis and molecular basis of mitochondrial respiratory chain disorders: Exome sequencing for disease gene identification

(2014) A. Ohtake et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder

(2014) Daniella Nishri et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

(2014) Robert W. Taylor et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome

(2014) Dorota M. Monies et al.   NEUROMUSCULAR DISORDERS

Defective i6A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA

(2014) John W. Yarham et al.   PLoS Genetics

Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity

(2013) Jeana T DaRe et al.   BMC Medical Genetics

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy

(2013) An I. Jonckheere et al.   BRAIN

Next-generation sequencing for mitochondrial disorders

(2013) C J Carroll et al.   BRITISH JOURNAL OF PHARMACOLOGY

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

(2013) Kornelia Neveling et al.   HUMAN MUTATION

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

(2013) Tobias B. Haack et al.   MOLECULAR GENETICS AND METABOLISM

Targeted exome sequencing of suspected mitochondrial disorders

(2013) D. S. Lieber et al.   NEUROLOGY

Mitochondrial Dysfunction in Neuromuscular Disorders

(2013) Christos D. Katsetos et al.   Seminars in Pediatric Neurology

Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease

(2012) Daniel S Lieber et al.   BMC Medical Genetics

Disease gene identification strategies for exome sequencing

(2012) Christian Gilissen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Molecular Genetic Testing for Mitochondrial Disease: From One Generation to the Next

(2012) Elizabeth McCormick et al.   Neurotherapeutics

Monogenic Mitochondrial Disorders

(2012) Werner J.H. Koopman et al.   NEW ENGLAND JOURNAL OF MEDICINE

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genome and exome sequencing in the clinic: unbiased genomic approaches with a high diagnostic yield

(2012) Marcel Nelen et al.   PHARMACOGENOMICS

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

(2012) S. E. Calvo et al.   Science Translational Medicine

A Mutation in C2orf64 Causes Impaired Cytochrome c Oxidase Assembly and Mitochondrial Cardiomyopathy

(2011) Merei Huigsloot et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Understanding mitochondrial complex I assembly in health and disease

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

Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options

(2011) Jessica Nouws et al.   BRAIN

Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy

(2011) Louise Galmiche et al.   HUMAN MUTATION

Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency

(2011) Katharina Danhauser et al.   MOLECULAR GENETICS AND METABOLISM

Mitochondrial Translation and Beyond: Processes Implicated in Combined Oxidative Phosphorylation Deficiencies

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

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

(2008) David J. Pagliarini et al.   CELL

Mitochondrial Energy Production Correlates With the Age-Related BMI

(2008) Saskia B Wortmann et al.   PEDIATRIC RESEARCH