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Brendan Lanpher, MD

  • 1155 Citations
  • 16 Scopus h-Index
1994 …2020

Research output per year

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Research Output

  • 1155 Citations
  • 16 Scopus h-Index
  • 39 Article
  • 4 Review article
  • 2 Comment/debate
  • 1 Chapter

Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations

Kotwal, A., Ferrer, A., Kumar, R., Singh, R. J., Murthy, V., Schultz-Rogers, L., Zimmermann, M., Lanpher, B., Zimmerman, K., Stabach, P. R., Klee, E., Braddock, D. T. & Wermers, R. A., Apr 1 2020, In : Journal of Bone and Mineral Research. 35, 4, p. 662-670 9 p.

Research output: Contribution to journal › Article

    • 1 Scopus citations

    Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

    Yan, K., Rousseau, J., Machol, K., Cross, L. A., Agre, K. E., Gibson, C. F., Goverde, A., Engleman, K. L., Verdin, H., de Baere, E., Potocki, L., Zhou, D., Cadieux-Dion, M., Bellus, G. A., Wagner, M. D., Hale, R. J., Esber, N., Riley, A. F., Solomon, B. D., Cho, M. T. & 12 others, McWalter, K., Eyal, R., Hainlen, M. K., Mendelsohn, B. A., Porter, H. M., Lanpher, B. C., Lewis, A. M., Savatt, J., Thiffault, I., Callewaert, B., Campeau, P. M. & Yang, X. J., Jan 22 2020, In : Science Advances. 6, 4, eaax0021.

    Research output: Contribution to journal › Article

    Open Access
    • 2 Scopus citations

    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 journal › Article

    • De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

    CAUSES Study, Jun 1 2020, In : European Journal of Human Genetics. 28, 6, p. 770-782 13 p.

    Research output: Contribution to journal › Article

    • 3 Scopus citations

    Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2

    Blackburn, P. R., Schultz, M. J., Lahner, C. A., Li, D., Bhoj, E., Fisher, L. J., Renaud, D. L., Kenney, A., Ibrahim, N., Hashem, M., Zain Seidahmed, M., Hasadsri, L., Schrier Vergano, S. A., Alkuraya, F. S. & Lanpher, B. C., Jun 1 2020, In : Annals of Clinical and Translational Neurology. 7, 6, p. 1013-1028 16 p.

    Research output: Contribution to journal › Article

    Open Access