- Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features. American journal of human genetics. 2016 Academic Article GET IT
- Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. European journal of human genetics : EJHG. 2013 Academic Article GET IT
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
Times cited: 30
- Expanding CEP290 mutational spectrum in ciliopathies. American journal of medical genetics. Part A. 2009 Academic Article GET IT
- RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. Clinical genetics. 2008 Academic Article GET IT
- CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. American journal of human genetics. 2007 Academic Article GET IT