Phenotypic spectrum of CHARGE syndrome with CHD7 mutations

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

Lisenka E.L.M. Vissers, Conny M.A. van Ravenswaaij, R.J.C. Admiraal et al. · Nature Genetics · 2004 · 1.3K citations

Life Sciences, Genetics, Molecular Genetics +4

Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association

Roberta A Pagon, John M. Graham, Jonathan Zonana et al. · The Journal of Pediatrics · 1981 · 838 citations

Medicine, Anatomy, Cardiology +15

Choanal atresia and associated multiple anomalies

Bryan D. Hall · The Journal of Pediatrics · 1979 · 401 citations

Medicine, Anatomy, Pathology +8

Updated diagnostic criteria for CHARGE syndrome: A proposal

Alain Verloès · American Journal of Medical Genetics Part A · 2005 · 377 citations · Full text

Medicine, Otolaryngology, Diagnostic Audiology +15

<i>PTPN11</i>(Protein-Tyrosine Phosphatase, Nonreceptor-Type 11) Mutations in Seven Japanese Patients with Noonan Syndrome

Kenjiro Kosaki, Taichi A. Suzuki, Koji Muroya et al. · The Journal of Clinical Endocrinology & Metabolism · 2002 · 114 citations

Life Sciences, Genetics, Molecular Genetics +16