Julián Esteve-Rudd

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

Shazia Ashraf, Heon Yung Gee, Stéphanie Woerner et al. · Journal of Clinical Investigation · 2013 · 333 citations · Full text

Genetics, Renal Pathology, Immunology +17

A Comparison of Some Organizational Characteristics of the Mouse Central Retina and the Human Macula

Stefanie Volland, Julián Esteve-Rudd, Juyea Hoo et al. · PLoS ONE · 2015 · 228 citations · Full text

Organizational Characteristics, Retinal Degenerations, Optogenetics +22

ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6

Maimoona A. Zariwala, Heon Yung Gee, Małgorzata Kurkowiak et al. · The American Journal of Human Genetics · 2013 · 201 citations · Full text

Pathology, Neuropathology, Medicine +4

Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome

Heon Yung Gee, Shazia Ashraf, Xiaoyang Wan et al. · The American Journal of Human Genetics · 2014 · 119 citations · Full text

Genetic Disorder, Genetics, Pathology +2

Essential Role of ELOVL4 Protein in Very Long Chain Fatty Acid Synthesis and Retinal Function

Richard Harkewicz, Hongjun Du, Zongzhong Tong et al. · Journal of Biological Chemistry · 2011 · 91 citations · Full text