The Molecular Genetics of Inherited Liver Disease: Asphyxiating Thoracic Dystrophy and Phenotypic Diarrhoea of Infancy

2011

Investigation of primary cilia in the pathogenesis of biliary atresia.
Hartley, J., O'Callaghan, C., Rossetti, S., Consugar, M., Ward, C., Kelly, D. & Harris, P., 1 Apr 2011, In: Journal of Pediatric Gastroenterology and Nutrition. 52, 4, p. 485-8 4 p.
Research output: Contribution to journal › Article

11 Citations (Scopus)
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
Hartley, J. & Maher, E., 1 Mar 2011, In: Nature Genetics. 43, 3, p. 189-U28
Research output: Contribution to journal › Article
234 Citations (Scopus)
2010
Mutations in TTC37 Cause Trichohepatoenteric Syndrome (Phenotypic Diarrhea of Infancy)
Hartley, J., Zachos, N., Dawood, B., Donowitz, M., Forman, J., Pollitt, R., Morgan, N., Tee, L., Gissen, P., Kahr, W., Knisely, A., Watson, S., Chitayat, D., Booth, I., Protheroe, S., Murphy, M., De Vries, E., Kelly, D. & Maher, E., 1 Jun 2010, In: Gastroenterology. 138, 7, p. 2388-2398 11 p.
Research output: Contribution to journal › Article
78 Citations (Scopus)

Research output