基本信息
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Bio
My research aims to help elucidate the genetic determinants of both complex and rare Mendelian
human diseases by using cutting-edge computational tools in genotyping and sequencing association
studies. I am currently involved in many national and international genetic projects, including studies
of age-related macular degeneration and the analysis of genomic data from the 100,000 Genomes
Project (100KGP) and the University College London (UCL) exome consortium (UCLex).
Research Interests
Papers共 64 篇Author StatisticsCo-AuthorSimilar Experts
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EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 676-676
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Mehdi Benkirane,Marion Bonhomme,Heba Morsy,Stephanie L Safgren,Cecilia Marelli,Annabelle Chaussenot,Damian Smedley,Valentina Cipriani, Jean-Madeleine de Sainte-Agathe, Can Ding,Lise Larrieu,Letizia Vestito,
Brain : a journal of neurology (2024)
Endocrine Abstracts (2023)
GENETICS IN MEDICINEno. 10 (2023)
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medRxiv the preprint server for health sciences (2023)
EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 478-480
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Journal of Neurology, Neurosurgery & Psychiatryno. 6 (2023): 189-190
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Author Statistics
#Papers: 64
#Citation: 4446
H-Index: 23
G-Index: 48
Sociability: 7
Diversity: 3
Activity: 36
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