Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH

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 · Full text

Chromatin, Genetic Disorder, Genetics +6

Cbl–CIN85–endophilin complex mediates ligand-induced downregulation of EGF receptors

Philippe Soubeyran, Katarzyna Kowanetz, Iwona Szymkiewicz et al. · Nature · 2002 · 568 citations

Signal Transduction, Signaling Pathway, Egf Receptors +4

Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation

Seema R. Lalani, Arsalan M. Safiullah, Susan Fernbach et al. · The American Journal of Human Genetics · 2006 · 391 citations · Full text

Mendelian Disorder, Chd7 Mutations, Genetic Disorder +8

Updated diagnostic criteria for CHARGE syndrome: A proposal

Alain Verloès · American Journal of Medical Genetics Part A · 2005 · 374 citations · Full text

Developmental Anomaly, Rhombencephalic Anomalies, Genital Anomalies +12

22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome

Shay Ben‐Shachar, Zhishuo Ou, Chad A. Shaw et al. · The American Journal of Human Genetics · 2008 · 244 citations · Full text

Distal Deletion, Digeorge Syndrome, Genetic Disorder +9