Stanislas Lyonnet

I’m a human geneticist and Director of the Imagine Institute as well as a professor of Genetics at Université de Paris.

My work at the Imagine Institute (Institute of Genetic Diseases) focusses on genetic conditions resulting from inborn errors of development. In the past, as a paediatrician, I have also dealt with children and families affected with malformation syndromes caused by the effects of a disease gene operating or non operating during development.

EXPs by Stanislas Lyonnet

Publications

Uguen, K., Jubin, C., Duffourd, Y., et al. (2020). Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization. Molecular Genetics & Genomic Medicine, 8(3).
Hubert, L., Cannata Serio, M., Villoing-Gaudé, L., et al. (2020). De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures. Journal of Medical Genetics, 57(2), 138–144.
Mak, C. C. Y., Doherty, D., Lin, A. E., et al. (2020). MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. Brain, 143(1), 55–68.
Chen, X., Garcelon, N., Neuraz, A., et al. (2019). Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtyping. Journal of Biomedical Informatics, 100.
Nellåker, C., Alkuraya, F. S., Baynam, G., et al. (2019). Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative. Frontiers in Genetics.
Guimier, A., Gordon, C. T., Godard, F., et al. (2016). Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy. American Journal of Human Genetics, 99(3), 666–673

All publications

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The Year in Human and Medical Genetics: New Trends in Mendelian Genetics, Volume 1214