Author
Radboud University Medical CenterORCID 0000-0001-5675-2031Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
Ganga Deshar, Mariam G. Aslanyan, Gaurav D. Diwan…·Jakob Grunnet Knudsen
The paper identifies primary cilia as a signaling platform for c-KIT in pancreatic alpha cells, showing that c-KIT signaling via SCF promotes proliferation and may contribute to hyperglucagonemia in obesity and diabetes.
Katherine Whiting, Mariam G. Aslanyan, Lynn van Summeren…·Ronald Roepman
This study shows that loss of INPP5E in human retinal organoids disrupts photoreceptor outer segment membrane biogenesis and alters protein localization.
Dov Tiosano, Hagit N. Baris, Anlu Chen…·David A. Buchner
The paper identifies homozygous mutations in PIK3C2A causing a new Mendelian disorder with short stature, skeletal abnormalities, cataracts, and ciliary dysfunction.