When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription

Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype

(2014) Ann Bowron et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Exposing synonymous mutations

(2014) Ryan C. Hunt et al.   TRENDS IN GENETICS

Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS)

(2013) Olena Korvatska et al.   HUMAN MOLECULAR GENETICS

New clinical and molecular insights on Barth syndrome

(2013) Lorenzo Ferri et al.   Orphanet Journal of Rare Diseases

Barth syndrome

(2013) Sarah LN Clarke et al.   Orphanet Journal of Rare Diseases

Understanding the contribution of synonymous mutations to human disease

(2011) Zuben E. Sauna et al.   NATURE REVIEWS GENETICS

Analysis of the IDS Gene in 38 Patients with Hunter Syndrome: The c.879G>A (p.Gln293Gln) Synonymous Variation in a Female Create Exonic Splicing

(2011) Huiwen Zhang et al.   PLoS One

Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography–mass spectrometry as a diagnostic test for Barth syndrome

(2009) Riekelt H. Houtkooper et al.   ANALYTICAL BIOCHEMISTRY

Characterization of Tafazzin Splice Variants from Humans and Fruit Flies

(2009) Yang Xu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Rare Missense and Synonymous Variants in UBE1 Are Associated with X-Linked Infantile Spinal Muscular Atrophy

(2008) Juliane Ramser et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Bloodspot Assay Using HPLC-Tandem Mass Spectrometry for Detection of Barth Syndrome

(2007) W. Kulik et al.   CLINICAL CHEMISTRY