Jenkins, Dagan

RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity

Jenkins, D., Seelow, D., Jehee, F. S., Perlyn, C. A., Alonso, L. G., Bueno, D. F., Donnai, D., Josifiova, D., Mathijssen, I. M. J., Morton, J. E. V., et al. (2007) · The American Journal of Human Genetics

Craniofacial Disorders and TreatmentsHedgehog Signaling Pathway Studies

Cited by 276

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

Boldt, K., van Reeuwijk, J., Lu, Q., Koutroumpas, K., Nguyen, T.-M. T., Texier, Y., van Beersum, S. E. C., Horn, N., Willer, J. R., Mans, D. A., et al. (2016) · Nature Communications

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 240

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

Sousa, S. B., Jenkins, D., Chanudet, E., Tasseva, G., Ishida, M., Anderson, G., Docker, J., Ryten, M., Sa, J., Saraiva, J. M., et al. (2014) · Nature Genetics

Dermatological and Skeletal DisordersGenomics and Rare Diseases

Cited by 115

Ciliopathy-Associated Missense Mutations in IFT140 are Tolerated by the Inherent Resilience of the IFT Machinery

Beyer, T., Diwan, G. D., Leonhard, T., Dahlke, K., Klose, F., Stehle, I. F., Seda, M., Bolz, S., Woerz, F., Russell, R. B., et al. (2025) · Molecular & Cellular Proteomics

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 6

How do stochastic processes and genetic threshold effects explain incomplete penetrance and inform causal disease mechanisms?

Jenkins, D. (2024) · Philosophical Transactions of the Royal Society B: Biological Sciences

Genomics and Rare DiseasesGene Regulatory Network Analysis

Cited by 6