Philip L. Beales

Single-cell RNA-sequencing of differentiating iPS cells reveals dynamic genetic effects on gene expression

Population-scale proteome variation in human induced pluripotent stem cells

CiliaCarta: An integrated and validated compendium of ciliary genes

Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy

Common genetic variation drives molecular heterogeneity in human iPSCs

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Heterozygous<i>KIDINS220/ARMS</i>nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Ciliary dysfunction impairs beta-cell insulin secretion and promotes development of type 2 diabetes in rodents

Targeted gene panel sequencing in children with very early onset inflammatory bowel disease—evaluation and prospective analysis

Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

Exome sequencing identifies <i>DYNC2H1</i> mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model