• 2132 Citations
  • 23 Scopus h-Index
20022020

Research output per year

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Research Output

Characterising a healthy adult with a rare hao1 knockout to support a therapeutic strategy for primary hyperoxaluria

McGregor, T. L., Hunt, K. A., Yee, E., Mason, D., Nioi, P., Ticau, S., Pelosi, M., Loken, P. R., Finer, S., Lawlor, D. A., Fauman, E. B., Huang, Q. Q., Griffiths, C. J., Macarthur, D. G., Trembath, R. C., Oglesbee, D., Lieske, J. C., Erbe, D. V., Wright, J. & van Heel, D. A., Mar 2020, In : eLife. 9, e54363.

Research output: Contribution to journalArticle

Open Access
  • De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

    Undiagnosed Diseases Network, Apr 2 2020, In : American journal of human genetics. 106, 4, p. 570-583 14 p.

    Research output: Contribution to journalArticle

  • Incorporation of second-tier biomarker testing improves the specificity of newborn screening for mucopolysaccharidosis type i

    Peck, D. S., Lacey, J. M., White, A. L., Pino, G., Studinski, A. L., Fisher, R., Ahmad, A., Spencer, L., Viall, S., Shallow, N., Siemon, A., Hamm, J. A., Murray, B. K., Jones, K. L., Gavrilov, D., Oglesbee, D., Raymond, K., Matern, D., Rinaldo, P. & Tortorelli, S., Jan 1 2020, In : International Journal of Neonatal Screening. 6, 1, 10.

    Research output: Contribution to journalArticle

    Open Access
  • 1 Scopus citations

    Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

    on behalf of the ACMG Biochemical Genetics Subcommittee of the Laboratory Quality Assurance Committee, Mar 1 2020, In : Genetics in Medicine. 22, 3, p. 462-474 13 p.

    Research output: Contribution to journalArticle

  • 1 Scopus citations

    m.3243A > G-Induced Mitochondrial Dysfunction Impairs Human Neuronal Development and Reduces Neuronal Network Activity and Synchronicity

    Klein Gunnewiek, T. M., Van Hugte, E. J. H., Frega, M., Guardia, G. S., Foreman, K., Panneman, D., Mossink, B., Linda, K., Keller, J. M., Schubert, D., Cassiman, D., Rodenburg, R., Vidal Folch, N., Oglesbee, D., Perales-Clemente, E., Nelson, T. J., Morava, E., Nadif Kasri, N. & Kozicz, T., Apr 21 2020, In : Cell reports. 31, 3, 107538.

    Research output: Contribution to journalArticle

    Open Access