The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants

(2019) Rocio Rius et al.   Journal of Clinical Medicine

Seave: a comprehensive web platform for storing and interrogating human genomic variation

(2018) Velimir Gayevskiy et al.   BIOINFORMATICS

Advancing genomic approaches to the molecular diagnosis of mitochondrial disease

(2018) Sarah Louise Stenton et al.   Essays in Biochemistry

Mitochondrial medicine in the omics era

(2018) Joyeeta Rahman et al.   LANCET

Whole genome sequencing provides better diagnostic yield and future value than whole exome sequencing

(2018) John S Mattick et al.   MEDICAL JOURNAL OF AUSTRALIA

First-line genomic diagnosis of mitochondrial disorders

(2018) F. Lucy Raymond et al.   NATURE REVIEWS GENETICS

Mitochondrial disease genetics update

(2018) Elizabeth M. McCormick et al.   CURRENT OPINION IN PEDIATRICS

Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child

(2018) Rocio Rius et al.   MOLECULAR GENETICS AND METABOLISM

Mitochondrial energy generation disorders: genes, mechanisms and clues to pathology

(2017) Ann E. Frazier et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency

(2017) S. Balasubramaniam et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Genetic diagnosis of Mendelian disorders via RNA sequencing

(2017) Laura S. Kremer et al.   Nature Communications

Hepatic mitochondrial dysfunction is a feature of Glycogen Storage Disease Type Ia (GSDIa)

(2017) Benjamin L. Farah et al.   Scientific Reports

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

(2016) Gali Heimer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Defining the Clinical Value of a Genomic Diagnosis in the Era of Next-Generation Sequencing

(2016) Natasha T. Strande et al.   Annual Review of Genomics and Human Genetics

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

(2016) Susan Byrne et al.   BRAIN

Sequencing-based diagnostics for pediatric genetic diseases: progress and potential

(2016) Ahmad N. Abou Tayoun et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders

(2016) Lisa G. Riley et al.   JOURNAL OF INHERITED METABOLIC DISEASE

New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre

(2016) Ewa Pronicka et al.   Journal of Translational Medicine

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies

(2016) Masakazu Kohda et al.   PLoS Genetics

Mitochondrial diseases

(2016) Gráinne S. Gorman et al.   Nature Reviews Disease Primers

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

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

Whole exome sequencing of suspected mitochondrial patients in clinical practice

(2015) Saskia B. Wortmann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project

(2014) Chandree L. Beaulieu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome

(2014) Sze Chern Lim et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

GEMINI: Integrative Exploration of Genetic Variation and Genome Annotations

(2013) Umadevi Paila et al.   PLoS Computational Biology

Mitochondrial disorders as windows into an ancient organelle

(2012) Scott B. Vafai et al.   NATURE

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Impairment of mitochondrial respiration in mouse fibroblasts byoncogenic H-RASQ61L

(2010) Dianer Yang et al.   CANCER BIOLOGY & THERAPY