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- 2015
- The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects
- Recurrent duplications of 17q12 associated with variable phenotypes
- Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: a case report suggesting a genotype-phenotype correlation
- Association between Kniest dysplasia and chondrosarcoma in a child
- 2014
- Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: a model for the diagnosis and treatment of rare diseases in a developing country
- Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability
- 2013
- Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum
- A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing
- Dermatosparaxis (Ehlers–Danlos type VIIC): prenatal diagnosis following a previous pregnancy with unexpected skull fractures at delivery
- 2012
- Acetazolamide for severe apnea in Pitt-Hopkins syndrome