Friez, Michael J.

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

Bronicki, L. M., Redin, C., Drunat, S., Piton, A., Lyons, M., Passemard, S., Baumann, C., Faivre, L., Thevenon, J., Rivière, J.-B., et al. (2015) · European Journal of Human Genetics

Down syndrome and intellectual disability researchGenetics and Neurodevelopmental Disorders

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Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

Levy, M. A., Relator, R., McConkey, H., Pranckeviciene, E., Kerkhof, J., Barat‐Houari, M., Bargiacchi, S., Biamino, E., Palomares Bralo, M., Cappuccio, G., et al. (2022) · Human Mutation

Epigenetics and DNA MethylationGenetics and Neurodevelopmental Disorders

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Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability

Vallianatos, C. N., Farrehi, C., Friez, M. J., Burmeister, M., Keegan, C. E., & Iwase, S. (2018) · Frontiers in Molecular Neuroscience

Genetics and Neurodevelopmental DisordersEpigenetics and DNA Methylation

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