Thaddeus E. Kelly

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3

Craig L. Bennett, Jacinda R. Christie, Fred Ramsdell et al. · Nature Genetics · 2001 · 3.4K citations

Life Sciences, Genetics, Immunology +13

Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister‐Killian syndrome): Report of 11 cases

James F. Reynolds, Art Daniel, Thaddeus E. Kelly et al. · American Journal of Medical Genetics · 1987 · 140 citations

Medicine, Craniofacial Biology, Cytogenetics +15

Synthesis of a shortened pro-alpha 2(I) chain and decreased synthesis of pro-alpha 2(I) chains in a proband with osteogenesis imperfecta.

W J de Wet, Taina Pihlajaniemi, Jeanne C. Myers et al. · Journal of Biological Chemistry · 1983 · 107 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +11

Isolated acid neuraminidase deficiency: A distinct lysosomal storage disease

Thaddeus E. Kelly, Geoffrey S. Graetz, John M. Opitz · American Journal of Medical Genetics · 1977 · 102 citations

Life Sciences, Biochemistry, Pathology +15

The van der Woude syndrome in a large kindred: Variability, penetrance, genetic risks

Patricia Janku, Meinhard Robinow, Thaddeus E. Kelly et al. · American Journal of Medical Genetics · 1980 · 98 citations

Life Sciences, Genetics, Genetic Counseling +12