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Comment
. 2023 Aug;191(8):2252-2253.
doi: 10.1002/ajmg.a.63305. Epub 2023 May 23.

Correspondence: Perspectives on the future of dysmorphology

Affiliations
Comment

Correspondence: Perspectives on the future of dysmorphology

Chumei Li. Am J Med Genet A. 2023 Aug.
No abstract available

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Comment on

  • Perspectives on the future of dysmorphology.
    Solomon BD, Adam MP, Fong CT, Girisha KM, Hall JG, Hurst ACE, Krawitz PM, Moosa S, Phadke SR, Tekendo-Ngongang C, Wenger TL. Solomon BD, et al. Am J Med Genet A. 2023 Mar;191(3):659-671. doi: 10.1002/ajmg.a.63060. Epub 2022 Dec 9. Am J Med Genet A. 2023. PMID: 36484420 Free PMC article.

References

REFERENCES

    1. Aref-Eshghi, E., Bend, E. G., Colaiacovo, S., Caudle, M., Chakrabarti, R., Napier, M., Brick, L., Brady, L., Carere, D. A., Levy, M. A., Kerkhof, J., Stuart, A., Saleh, M., Beaudet, A. L., Li, C., Kozenko, M., Karp, N., Prasad, C., Siu, V. M., … Sadikovic, B. (2019). Diagnostic utility of genome-wide DNA methylation testing in genetically unsolved individuals with suspected hereditary conditions. American Journal of Human Genetics., 104(4), 685-700. https://doi.org/10.1016/j.ajhg.2019.03.008
    1. Kerkhof, J., Squeo, G. M., McConkey, H., Levy, M. A., Piemontese, M. R., Castori, M., Accadia, M., Biamino, E., Della Monica, M., Di Giacomo, M. C., Gervasini, C., Maitz, S., Melis, D., Milani, D., Piccione, M., Prontera, P., Selicorni, A., Sadikovic, B., & Merla, G. (2022). DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies. Genetics in Medicine, 24, 51-60. https://doi.org/10.1016/j.gim.2021.08.007
    1. Levy, A., McConkey, H., Kerkhof, J., Barat-Houari, M., Bargiacchi, S., Biamino, E., Bralo, P., Cappuccio, G., Ciolfi, A., Clarke, A., DuPont, R., Elting, M., Faivre, L., Fee, T., Fletcher, R. S., Cherik, F., Foroutan, A., Friez, M. J., Gervasini, C., … Sadikovic, B. (2021). Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders. Human Genetics and Genomics Advances, 3(1), 100075. https://doi.org/10.1016/j.xhgg.2021.100075
    1. Schenkel, L. C., Aref-Eshghi, E., Rooney, K., Kerkhof, J., Levy, M. A., McConkey, H., Rogers, R. C., Phelan, K., Sarasua, S. M., Jain, L., Pauly, R., Boccuto, L., DuPont, B., Cappuccio, G., Brunetti-Pierri, N., Schwartz, C. E., & Sadikovic, B. (2021). DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome. Clinical Epigenetics, 13(1), 2. https://doi.org/10.1186/s13148-020-00990-7
    1. Solomon, B. D., Adam, M. P., Fong, C.-T., Girisha, K. M., Hall, J. G., Hurst, A. C. E., Krawitz, P. M., Moosa, S., Phadke, S. R., Tekendo-Ngongang, C., & Wenger, T. L. (2023). Perspectives on the future of dysmorphology. American Journal of Medical Genetics Part A, 191A, 659-671. https://doi.org/10.1002/ajmg.a.63060

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