Defining the Clinical Spectrum of Deletion 22q11.2

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

Marco Tartaglia, Ernest L. Mehler, Rosalie Goldberg et al. · Nature Genetics · 2001 · 1.7K citations

Life Sciences, Genetics, Molecular Genetics +11

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

A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome.

Robert J. Shprintzen, Rosalie Goldberg, Michael L. Lewin et al. · PubMed · 1978 · 598 citations

Medicine, Orthodontics, Plastic Surgery +17

DiGeorge syndrome: part of CATCH 22.

David I. Wilson, John Burn, Peter Scambler et al. · Journal of Medical Genetics · 1993 · 511 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.

Deborah A. Driscoll, J Salvin, Beatrice Sellinger et al. · Journal of Medical Genetics · 1993 · 488 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15