PSIP1/LEDGF: a new gene likely involved in sensorineural progressive hearing loss. Sci Rep 2015;5:18568.
. A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta. Gene 2014;545(2):290-2.
. Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss. Eur J Hum Genet 2019;27(1):70-79.
. A girl with photosensitivity and hepatic steatosis. J Pediatr 2014;165(1):201-201.e1.
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