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Bio
I am a highly experienced human geneticist with a primary interest in understanding how extant genetic variation and de novo somatic and germline mutations contribute toward human phenotypic variation and disease. I have more than 25 years of experience in human genetics research, more than 20 years leading a productive and active research team, leading and collaborating locally and internationally with teams of scientists, clinicians, diagnostic centres, funders and industrial partners. I have a particular expertise in simple sequence repeat biology and rare inherited diseases, most notably with myotonic dystrophy type 1 and Huntington disease. My career goals are to exploit insights gained from human genetics to better diagnose, manage and treat human disease.
Research Interests
Papers共 186 篇Author StatisticsCo-AuthorSimilar Experts
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Laura Girard-Côté,Benjamin Gallais,Cynthia Gagnon,Marie-Pier Roussel, Marika Morin,Luc J. Hébert,Darren Monckton, Jean-Philippe Leduc-Gaudet,Gilles Gouspillou, Vincent Macangelli,Elise Duchesne
Neuromuscular Disorders (2024)
European Journal of Human Geneticsno. 7 (2024): 1-9
Kyung-Hee Kim,Eun Pyo Hong, Yukyeong Lee,Zachariah L McLean, Emanuela Elezi,Ramee Lee,Seung Kwak,Branduff McAllister,Thomas H Massey,Sergey Lobanov,Peter Holmans,Michael Orth,
Proceedings of the National Academy of Sciences of the United States of Americano. 16 (2024): e2322924121-e2322924121
Laura Girard-Côté,Benjamin Gallais,Cynthia Gagnon,Marie-Pier Roussel, Marika Morin,Luc J Hébert,Darren Monckton, Jean-Philippe Leduc-Gaudet,Gilles Gouspillou,Vincent Marcangeli,Elise Duchesne
Neuromuscular disorders : NMD (2024): 38-51
R. Muni Lofra, H. Walker, C. Turner,K. Adcock,E. Ashley,M. Rogers,R. Orrell,J. Donachie,D. Monckton,M. Hamilton,C. Hewamadduma, M. Bowler,
NEUROMUSCULAR DISORDERS (2023): S144-S144
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