Publications
Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families. Int J Dermatol 56, 1406-1413 (2017).
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization. Am J Hum Genet 99, 1086-1105 (2016).