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Erica Ellen Davis

Calculated based on number of publications stored in Pure and citations from Scopus
Calculated based on number of publications stored in Pure and citations from Scopus
Calculated based on number of publications stored in Pure and citations from Scopus
20042025

Research activity per year

Personal profile

Expertise related to UN Sustainable Development Goals

In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):

  • SDG 3 - Good Health and Well-being
  • SDG 9 - Industry, Innovation, and Infrastructure

Education/Academic qualification

PhD, Molecular Genetics, University of Liege

… → 2005

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Collaborations and top research areas from the last five years

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  • Expanding the Spectrum of Endocrine Abnormalities Associated With SOX11-related Disorders

    Sun, B., Stamou, M. I., Stockman, S. L., Campbell, M. B., Plummer, L., Salnikov, K. B., Kotan, L. D., Topaloglu, A. K., Hisama, F. M., Davis, E. E., Seminara, S. B. & Balasubramanian, R., Apr 1 2025, In: Journal of clinical endocrinology and metabolism. 110, 4, p. 1044-1052 9 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

    Dharmadhikari, A. V., Abad, M. A., Khan, S., Maroofian, R., Sands, T. T., Ullah, F., Samejima, I., Shen, Y., Wear, M. A., Moore, K. E., Kondakova, E., Mitina, N., Schaub, T., Lee, G. K., Umandap, C. H., Berger, S. M., Iglesias, A. D., Popp, B., Abou Jamra, R. & Gabriel, H. & 62 others, Rentas, S., Rippert, A. L., Gray, C., Izumi, K., Conlin, L. K., Koboldt, D. C., Mosher, T. M., Hickey, S. E., Albert, D. V. F., Norwood, H., Lewanda, A. F., Dai, H., Liu, P., Mitani, T., Marafi, D., Eker, H. K., Pehlivan, D., Posey, J. E., Lippa, N. C., Vena, N., Heinzen, E. L., Goldstein, D. B., Mignot, C., de Sainte Agathe, J. M., Al-Sannaa, N. A., Zamani, M., Sadeghian, S., Azizimalamiri, R., Seifia, T., Zaki, M. S., Abdel-Salam, G. M. H., Abdel-Hamid, M. S., Alabdi, L., Alkuraya, F. S., Dawoud, H., Lofty, A., Bauer, P., Zifarelli, G., Afzal, E., Zafar, F., Efthymiou, S., Gossett, D., Towne, M. C., Yeneabat, R., Perez-Duenas, B., Cazurro-Gutierrez, A., Verdura, E., Cantarin-Extremera, V., Marques, A. D. V., Helwak, A., Tollervey, D., Wontakal, S. N., Aggarwal, V. S., Rosenfeld, J. A., Tarabykin, V., Ohta, S., Lupski, J. R., Houlden, H., Earnshaw, W. C., Davis, E. E., Jeyaprakash, A. A. & Liao, J., Dec 2025, In: Nature communications. 16, 1, 1703.

    Research output: Contribution to journal › Article › peer-review

  • An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants

    Fellmann, F., Saunders, C., O’Donohue, M. F., Reid, D. W., McFadden, K. A., Montel-Lehry, N., Yu, C., Fang, M., Zhang, J., Royer-Bertrand, B., Farinelli, P., Karboul, N., Willer, J. R., Fievet, L., Bhuiyan, Z. A., Kleinhenz, A. L. W., Jadeau, J., Fulbright, J., Rivolta, C. & Renella, R. & 6 others, Katsanis, N., Beckmann, J. S., Nicchitta, C. V., Costa, L. D., Davis, E. E. & Gleizes, P. E., Sep 10 2024, In: JCI Insight. 9, 17, e172475.

    Research output: Contribution to journal › Article › peer-review

  • Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities

    Scala, M., Khan, K., Beneteau, C., Fox, R. G., von Hardenberg, S., Khan, A., Joubert, M., Fievet, L., Musquer, M., Le Vaillant, C., Holsclaw, J. K., Lim, D., Berking, A. C., Accogli, A., Giacomini, T., Nobili, L., Striano, P., Zara, F., Torella, A. & Nigro, V. & 8 others, Cogné, B., Salick, M. R., Kaykas, A., Eggan, K., Capra, V., Bézieau, S., Davis, E. E. & Wells, M. F., Apr 2024, In: Genetics in Medicine. 26, 4, 101057.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    3 Scopus citations

  • Exome sequencing in four families with neurodevelopmental disorders: genotype–phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN

    Afridi, T. U. K., Fatima, A., Satti, H. S., Akram, Z., Yousafzai, I. K., Naeem, W. B., Fatima, N., Ali, A., Iqbal, Z., Khan, A., Shahzad, M., Liu, C., Toft, M., Zhang, F., Tariq, M., Davis, E. E. & Khan, T. N., Dec 2024, In: Molecular Genetics and Genomics. 299, 1, 55.

    Research output: Contribution to journal › Article › peer-review

    1 Scopus citations
View all 129 Research outputs