Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia.
Shi Y, Wang J, Li JD, Ren H, et al.
PLoS One. 2013 Dec 2;8(12):e81884.
Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss.
Girotto G, Abdulhadi K, Buniello A, Vozzi D, et al.
PLoS One. 2013 Dec 2;8(12):e80323.