Publications
] Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genet Med 22, 1215-1226 (2020).
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative. Front Genet 10, 611 (2019).
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. Am J Hum Genet 92, 605-13 (2013).
