Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus

Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome

(2012) Johannes A. Mayr et al.   AMERICAN JOURNAL OF HUMAN GENETICS

In search of triallelism in Bardet–Biedl syndrome

(2012) Leen Abu-Safieh et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

(2012) S. E. Calvo et al.   Science Translational Medicine

Novel recessive BFSP2 and PITX3 mutations: Insights into mutational mechanisms from consanguineous populations

(2011) Mohammed A. Aldahmesh et al.   GENETICS IN MEDICINE

Pediatric Cataract: The Toronto Experience—Etiology

(2010) Zena Lim et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

Molecular characteristics of inherited congenital cataracts

(2010) Bingyu Huang et al.   European Journal of Medical Genetics

Lipids and the ocular lens

(2010) Douglas Borchman et al.   JOURNAL OF LIPID RESEARCH

Lysophosphatidic acid signaling in airway epithelium: Role in airway inflammation and remodeling

(2008) Yutong Zhao et al.   CELLULAR SIGNALLING