Projects 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):
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Stress Related Mechanisms of Hypertension Risk
Harshfield, G. A., George, V., Kapuku, K. G., Layman, L. C., George, V., Pollock, D., Pollock, J., Dong, Y., HARSHFIELD, G. A., Pollock, D., Pollock, J., Pollock, J., Smith, D., Strong, W., Treiber, F., Gutin, B. & HARSHFIELD, G. A.
Project: Research project
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Clinical Validation and Diagnostic Utility of Optical Genome Mapping in Prenatal Diagnostic Testing
Sahajpal, N. S., Mondal, A. K., Fee, T., Hilton, B., Layman, L., Hastie, A. R., Chaubey, A., DuPont, B. R. & Kolhe, R., Apr 2023, In: The Journal of Molecular Diagnostics.Research output: Contribution to journal › Article › peer-review
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Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping
Brakta, S., Hawkins, Z. A., Sahajpal, N., Seman, N., Kira, D., Chorich, L. P., Kim, H. G., Xu, H., Phillips, J. A., Kolhe, R. & Layman, L. C., Apr 2023, In: Human Genetics. 142, 4, p. 483-494 12 p.Research output: Contribution to journal › Article › peer-review
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Unexplained Female Infertility Associated with Genetic Disease Variants.
Dougherty, M. P., Poch, A. M., Chorich, L. P., Hawkins, Z. A., Xu, H., Roman, R. A., Liu, H., Brakta, S., Taylor, H. S., Knight, J., Kim, H. G., Diamond, M. P. & Layman, L. C., 2023, In: New England Journal of Medicine. 388, 11, p. 1055-1056 2 p.Research output: Contribution to journal › Letter › peer-review
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A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders
Ben-Mahmoud, A., Jun, K. R., Gupta, V., Shastri, P., de la Fuente, A., Park, Y., Shin, K. C., Kim, C. A., da Cruz, A. D., Pinto, I. P., Minasi, L. B., Silva da Cruz, A., Faivre, L., Callier, P., Racine, C., Layman, L. C., Kong, I. K., Kim, C. H., Kim, W. Y. & Kim, H. G., Oct 6 2022, In: Frontiers in Molecular Neuroscience. 15, 979061.Research output: Contribution to journal › Article › peer-review
Open Access -
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function
Lin, S. J., Vona, B., Porter, H. M., Izadi, M., Huang, K., Lacassie, Y., Rosenfeld, J. A., Khan, S., Petree, C., Ali, T. A., Muhammad, N., Khan, S. A., Muhammad, N., Liu, P., Haymon, M. L., Rüschendorf, F., Kong, I. K., Schnapp, L., Shur, N., Chorich, L., & 5 others , Oct 2022, In: Human Mutation. 43, 10, p. 1472-1489 18 p.Research output: Contribution to journal › Article › peer-review
Open Access