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

Masakazu Kohda, Yoshimi Tokuzawa, Yoshihito Kishita, +32

PLoS Genetics

Mitochondrial DysfunctionGeneticsGenetic EpidemiologyPathologyMolecular Genetics +16

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Vicente A. Yépez, Mirjana Gušić, Robert Kopajtich, +50

Genome Medicine

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Radha Desai, Ann E. Frazier, Romina Durigon, +33

Brain

EngineeringMitochondrial DysfunctionGeneticsGenetic EpidemiologyMolecular Genetics +20

Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy

Robert Kopajtich, Thomas J. Nicholls, Joanna Rorbach, +48

The American Journal of Human Genetics

Metabolic and chemical regulation of tRNA modification associated with taurine deficiency and human disease

Kana Asano, Takeo Suzuki, Ayaka Saito, +14

Nucleic Acids Research

Deficiency of <scp>ECHS</scp>1 causes mitochondrial encephalopathy with cardiac involvement

Tobias B. Haack, Christopher B. Jackson, Kei Murayama, +42

Annals of Clinical and Translational Neurology

COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency

Gloria Brea‐Calvo, Tobias B. Haack, Daniela Karall, +27

The American Journal of Human Genetics

Delineating <i>MT-ATP6</i> -associated disease

Claudia Stendel, Christiane Neuhofer, Elisa Floride, +20

Neurology Genetics

Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients

Erika Ogawa, Masaru Shimura, Takuya Fushimi, +14

Journal of Inherited Metabolic Disease

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy

Robert Kopajtich, Kei Murayama, Andreas Janecke, +24

The American Journal of Human Genetics

Developmental AnomalyDevelopmental BiologyMendelian DisorderGenetic DisorderMuscular Hypotonia +7