Cofactors, the missing link between rare disorder phenotypes and a genetic diagnosis
The functionality of many cellular proteins depends on cofactors; yet, they have only been implicated in a minority of Mendelian diseases. In this paper with AGEM PI André van Kuilenburg as senior author, the first two inherited disorders of the cytosolic iron-sulfur protein assembly system are described.
Professor of Enzymology of Metabolic and Oncological Diseases | Principal Investigator | Clinical Biochemical Geneticist
8 个月In this beautiful collaborative study we showed that deep clinical and biochemical phenotyping combined with genome sequencing can resolve the etiology underlying seemingly unrelated diseases