A combination of two novel VARS2 variants causes a mitochondrial disorder associated with failure to thrive and pulmonary hypertension

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

(2019) Aleksandra Siekierska et al.   Nature Communications

Clinical, biochemical, and genetic features associated with VARS2 -related mitochondrial disease

(2018) Francesco Bruni et al.   HUMAN MUTATION

Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models

(2018) Valentina Del Dotto et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

A novel compound heterozygous mutation in VARS2 in a newborn with mitochondrial cardiomyopathy: a case report of a Chinese family

(2018) Keze Ma et al.   BMC Medical Genetics

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

Neonatal encephalocardiomyopathy caused by mutations in VARS2

(2016) Fabian Baertling et al.   METABOLIC BRAIN DISEASE

VARS2andTARS2Mutations in Patients with Mitochondrial Encephalomyopathies

(2014) Daria Diodato et al.   HUMAN MUTATION

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

Mitochondria: In Sickness and in Health

(2012) Jodi Nunnari et al.   CELL

Dual targeting of mitochondrial proteins: Mechanism, regulation and function

(2010) Ohad Yogev et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

In vivo analysis of mtDNA replication defects in yeast

(2010) Enrico Baruffini et al.   METHODS