Phillip F. Chance

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

DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)

Ying-Zhang Chen, Craig L. Bennett, Huy M. Huynh et al. · The American Journal of Human Genetics · 2004 · 812 citations · Full text

Life Sciences, Neurology, Neuroscience +12

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

Phillip F. Chance, M. Kathryn Alderson, Kathleen A. Leppig et al. · Cell · 1993 · 806 citations

Life Sciences, Genetics, Molecular Genetics +12

Charcot–Marie–Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

Kiyoshi Hayasaka, Masato Himoro, Wataru Sato et al. · Nature Genetics · 1993 · 364 citations

Medicine, Genetics, Neurology +12

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

Phillip F. Chance, Nacer Abbas, M. William Lensch et al. · Human Molecular Genetics · 1994 · 313 citations

Life Sciences, Genetics, Neurology +12