A recurrent mitochondrial p.Trp22ArgNDUFB3variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

(2015) Gráinne S. Gorman et al.   ANNALS OF NEUROLOGY

LRPPRCmutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population

(2015) Monika Oláhová et al.   BRAIN

Clinical Application of a Custom AmpliSeq Library and Ion Torrent PGM Sequencing to Comprehensive Mutation Screening for Deafness Genes

(2015) Shin-Ya Nishio et al.   Genetic Testing and Molecular Biomarkers

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

(2015) Martina Huemer et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR

(2015) Hui Yang et al.   Nature Protocols

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

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

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

Natural History of Wolff-Parkinson-White Syndrome Diagnosed in Childhood

(2013) Nicole Cain et al.   AMERICAN JOURNAL OF CARDIOLOGY

Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management

(2012) M. G. D. Bates et al.   EUROPEAN HEART JOURNAL

Complex I deficiency: clinical features, biochemistry and molecular genetics

(2012) Elisa Fassone et al.   JOURNAL OF MEDICAL GENETICS

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

(2012) Tobias B Haack et al.   JOURNAL OF MEDICAL GENETICS

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

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

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

(2011) Helen Swalwell et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mitochondrial complex I deficiency of nuclear origin

(2011) Hélène Pagniez-Mammeri et al.   MOLECULAR GENETICS AND METABOLISM