Jonathan Zonana

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

X–linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein

Juha Kere, Anand Srivastava, Outi Montonen et al. · Nature Genetics · 1996 · 756 citations

Life Sciences, Genetics, Molecular Genetics +13

A Novel X-Linked Disorder of Immune Deficiency and Hypohidrotic Ectodermal Dysplasia Is Allelic to Incontinentia Pigmenti and Due to Mutations in IKK-gamma (NEMO)

Jonathan Zonana, Melissa E. Elder, Lynda C. Schneider et al. · The American Journal of Human Genetics · 2000 · 523 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia

Alex W. Monreal, Betsy Ferguson, Denis J. Headon et al. · Nature Genetics · 1999 · 406 citations

Life Sciences, Genetics, Molecular Genetics +12

Gene defect in ectodermal dysplasia implicates a death domain adapter in development

Denis J. Headon, Stephanie A. Emmal, Betsy Ferguson et al. · Nature · 2001 · 390 citations

Life Sciences, Developmental Biology, Genetics +16