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Bio
The pivot point in my career was the following 3 years at the National Institute of Dental Research, NIH, in George Martin’s laboratory. This introduced me to collagens, previously the most boring proteins in the world, convinced me of their dynamic nature and as a resource for understanding the genetics of rare disorders and as a window to fundamental biology. Then a 3 year combined fellowship in biochemistry (Paul Bornstein) and Medical Genetics (Arno Motulsky) put collagen biology into a clinical context and led by Arno’s maxim to “think genetically” laid the foundation for the next 40+ years of working with families with heritable connective tissue disorders (EDS, OI, Marfan syndrome) and the identification of the underlying genetic bases of these conditions.
Research Interests
Papers共 291 篇Author StatisticsCo-AuthorSimilar Experts
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EUROPEAN JOURNAL OF HUMAN GENETICSno. 1 (2024): 132-132
Journal of Vascular Surgeryno. 1 (2023): NP210-NP210
Andrew B. Stergachis,Elizabeth E. Blue,Madelyn A Gillentine,Lee-kai Wang,Ulrike Schwarze, Adriana Sedeño Cortés,Jane Ranchalis,Aimee Allworth, Austin E. Bland, Sirisak Chanprasert,Jingheng Chen,Daniel Doherty,
Journal of vascular surgery cases and innovative techniquesno. 2 (2023): 101194-101194
biorxiv(2023)
Journal of Vascular Surgery Cases, Innovations and Techniquesno. 2 (2023): 101192-101192
JOURNAL OF THE AMERICAN HEART ASSOCIATIONno. 19 (2023): e029518-e029518
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