Research Output per year
Research Output per year
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Dive into the research topics where Brendan Lanpher is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Research Output
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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 › peer-review
6 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, , Jan 22 2020, In : Science Advances. 6, 4, eaax0021.Research output: Contribution to journal › Article › peer-review
Open Access4 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 › peer-review
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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 › peer-review
4 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 › peer-review
Open Access