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Bio
Richard Spritz received the B.S. degree in zoology from the University of Wisconsin-Madison, and the M.D. degree from Pennsylvania State University. Previously, he was the Director of the Human Medical Genetics and Genomics Program. In the 1970s, he was a part of the team that characterized the first human genes and discovered the first human gene mutation, in beta-thalassemia. For over four decades, his lab studied the molecular basis of human genetic diseases, including mapping, discovery, and mutational and functional analysis of many different human disease genes. He has received numerous awards for his research and has over 280 publications, on many different topics relating to genetic disorders and birth defects. He was an intern and a resident in pediatrics at the Children’s Hospital of Philadelphia. He is currently an Emeritus Professor in pediatrics with the School of Medicine, University of Colorado. He is a fellow in human genetics with the Yale School of Medicine.
Research Interests
Papers共 91 篇Author StatisticsCo-AuthorSimilar Experts
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EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 790-790
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biorxiv(2024)
J. David Aponte,Jordan J. Bannister,Hanne Hoskens,Harold Matthews,Kaitlin Katsura, Cassidy Da Silva, Tim Cruz, Julie H. M. Pilz,Richard A. Spritz,Nils D. Forkert,Peter Claes,Francois P. Bernier,
bioRxiv : the preprint server for biology (2024)
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 774-775
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EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 74-74
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biorxiv(2023)
Nature geneticsno. 5 (2023): 841-851
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Author Statistics
#Papers: 89
#Citation: 4202
H-Index: 33
G-Index: 64
Sociability: 6
Diversity: 0
Activity: 1
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