基本信息
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Bio
My research focuses on the study of individuals with rare inborn errors of vitamin B12 and folate metabolism. Using cultured fibroblasts from pateints with these disorders, my group has been able to work out the metabolic pathway and to discover novel genes.
Research Interests
Papers共 332 篇Author StatisticsCo-AuthorSimilar Experts
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合作机构
Chestno. 2 (2025): e37-e39
Jung-Ming G. Lin, Tuan-Anh Nguyen, Anne-Sophie M. C. Marques, Lorenzo Scrofani, Diana Daum, Ludwig G. Bauer, Carol Cheng, Luna D'Angelo, Juan Sanchez, Christoph Bueschl, Pisanu Buphamalai, Marton Siklos, Jakob-Wendelin Genger, Gerald Hofstaetter, Kathrin Runggatscher, Bettina Guertl, Yusi Liu, Jesper Hansen, Anna Koren,D. Sean Froese,David S. Rosenblatt, Kristaps Klavins,Andreas Bergthaler, Joerg Menche, J. Thomas Hannich,Sara Sdelci,Kilian V. M. Huber,Stefan Kubicek
biorxiv(2025)
Genetics in Medicine Open (2025): 103048
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Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Diseasepp.835-848, (2025)
Molecular Genetics and Metabolismpp.108345-108345, (2024)
Zachary T. Sentell,Lina Mougharbel, Zachary W. Nurcombe,Sima Babayeva, Marc Henein, Lee,Murielle M. Akpa, Chen-Fang Chung,Jean-Baptiste Riviere,Mihaela Pupavac,Rui Li,David S. Rosenblatt,Jacek Majewski,Paul R. Goodyer,Elena Torban,Thomas M. Kitzler
HUMAN MOLECULAR GENETICSno. 4 (2024)
David Rosenblatt,Caitlin Zacharias, Kyana Arbabian,David Watkins,Jean-Baptiste Riviere,Brian Gilfix, Krithika Ragupathi
Genetics in Medicine Open (2024): 100888
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Author Statistics
#Papers: 332
#Citation: 14720
H-Index: 62
G-Index: 110
Sociability: 7
Diversity: 4
Activity: 10
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