Dyment, David A.

Genetics of multiple sclerosis

Dyment, D. A., Ebers, G. C., & Dessa Sadovnick, A. (2004) · The Lancet Neurology

Multiple Sclerosis Research StudiesGenetic Associations and Epidemiology

Cited by 563

BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations

Basak, A., Hancarova, M., Ulirsch, J. C., Balci, T. B., Trkova, M., Pelisek, M., Vlckova, M., Muzikova, K., Cermak, J., Trka, J., et al. (2015) · Journal of Clinical Investigation

Hemoglobinopathies and Related DisordersGenetics and Neurodevelopmental Disorders

Cited by 147

DNM1L-related mitochondrial fission defect presenting as refractory epilepsy

Care4Rare Consortium, Vanstone, J. R., Smith, A. M., McBride, S., Naas, T., Holcik, M., Antoun, G., Harper, M.-E., Michaud, J., Sell, E., et al. (2016) · European Journal of Human Genetics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 135

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.

Fountain, M. D., Oleson, D. S., Rech, M. E., Segebrecht, L., Hunter, J. V., McCarthy, J. M., Lupo, P. J., Holtgrewe, M., Moran, R., Rosenfeld, J. A., et al. (2019) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 80

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

Cited by 76

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

Hiatt, S. M., Trajkova, S., Sebastiano, M. R., Partridge, E. C., Abidi, F. E., Anderson, A., Ansar, M., Antonarakis, S. E., Azadi, A., Bachmann-Gagescu, R., et al. (2023) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 21

Mutations in the hemochromatosis gene and the clinical outcome of multiple sclerosis

Ramagopalan, S. V., Cukjati, M., Černilec, M., DeLuca, G. C., Dyment, D. A., Degenhardt, A., Sadovnick, A. D., Šerbec, V. Č., Ebers, G. C., & Duquette, P. (2008) · Journal of Neuroimmunology

Multiple Sclerosis Research StudiesIron Metabolism and Disorders

Cited by 16

Further delineation of BCAP31‐linked intellectual disability: description of 17 new families with LoF and missense variants

Whalen, S., Shaw, M., Mignot, C., Héron, D., Bastaraud, S. C., Walti, C. C., Liebelt, J., Elmslie, F., Yap, P., Hurst, J., et al. (2021) · European Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 15