• A novel MYT1L mutation in a boy with syndromic obesity: Case report and literature review
• BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan
• Inositol polyphosphate phosphatases in human disease
• INPP5E interacts with AURKA, linking phosphoinositide signaling to primary cilium stability
• INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse
• INPP5E Preserves Genomic Stability through Regulation of Mitosis
• Modulation of Ciliary Phosphoinositide Content Regulates Trafficking and Sonic Hedgehog Signaling Output
• MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34
• New Functions of the Inositol Polyphosphate 5-Phosphatases in Cancer
• Novel Insights Into Monogenic Obesity Syndrome Due to <em>INPP5E</em> Gene Variant: A Case Report of a Female Patient
• Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders