TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

(2018) Jennifer N. Dines et al.   GENETICS IN MEDICINE

Carbonic anhydrase-related protein CA10 is an evolutionarily conserved pan-neurexin ligand

(2017) Fredrik H. Sterky et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

(2016) Seema R. Lalani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

(2016) Laura S. Kremer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins

(2015) Sarah E. Calvo et al.   NUCLEIC ACIDS RESEARCH

Refining analyses of copy number variation identifies specific genes associated with developmental delay

(2014) Bradley P Coe et al.   NATURE GENETICS

High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications

(2009) T. H. Shaikh et al.   GENOME RESEARCH

Mitochondrial localization and function of a subset of 22q11 deletion syndrome candidate genes

(2008) T.M. Maynard et al.   MOLECULAR AND CELLULAR NEUROSCIENCE