CHD7
“Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability”. Clinical Genetics 72 (2): 112–21. (Aug 2007). doi:10.1111/j.1399-0004.2007.00821.x. PMID 17661815.
“Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype”. American Journal of Medical Genetics Part A 143A (22): 2712–5. (Nov 2007). doi:10.1002/ajmg.a.32008. PMID 17937444.
“New recognized ophthalmic morphologic anomalies in CHARGE syndrome caused by the R2319C mutation in the CHD7 gene”. Ophthalmic Genetics 29 (2): 79–84. (Jun 2008). doi:10.1080/13816810801918391. PMID 18484313.
“CHARGE syndrome: an update”. European Journal of Human Genetics 15 (4): 389–99. (Apr 2007). doi:10.1038/sj.ejhg.5201778.