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ASSOCIATE PROFESSOR | Genetics and Genomic Sciences
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Dive into the research topics where Lisa Edelmann is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Projects
- 1 Finished
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Impact of CNVs on outcomes for infants with single ventricle heart defects
National Heart, Lung, and Blood Institute
15/07/10 → 30/06/13
Project: Research
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Characterization of Reference Materials for TPMT and NUDT15: A GeT-RM Collaborative Project
Pratt, V. M., Wang, W. Y., Boone, E. C., Broeckel, U., Cody, N., Edelmann, L., Gaedigk, A., Lynnes, T. C., Medeiros, E. B., Moyer, A. M., Mitchell, M. W., Scott, S. A., Starostik, P., Turner, A. & Kalman, L. V., Oct 2022, In: Journal of Molecular Diagnostics. 24, 10, p. 1079-1088 10 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Detection of mosaic variants using genome sequencing in a large pediatric cohort
Odgis, J. A., Gallagher, K. M., Rehman, A. U., Marathe, P. N., Bonini, K. E., Sebastin, M., Di Biase, M., Brown, K., Kelly, N. R., Ramos, M. A., Thomas-Wilson, A., Guha, S., Okur, V., Ganapathi, M., Elkhoury, L., Edelmann, L., Zinberg, R. E., Abul-Husn, N. S., Diaz, G. A., Greally, J. M., & 6 others, 2022, (Accepted/In press) In: American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Article › peer-review
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Long-read HiFi sequencing of NUDT15: Phased full-gene haplotyping and pharmacogenomic allele discovery
Scott, E. R., Yang, Y., Botton, M. R., Seki, Y., Hoshitsuki, K., Harting, J., Baybayan, P., Cody, N., Nicoletti, P., Moriyama, T., Chakraborty, S., Yang, J. J., Edelmann, L., Schadt, E. E., Korlach, J. & Scott, S. A., Nov 2022, In: Human Mutation. 43, 11, p. 1557-1566 10 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay
Singh, R., Cohen, A. S. A., Poulton, C., Hjortshøj, T. D., Akahira-Azuma, M., Mendiratta, G., Khan, W. A., Azmanov, D. N., Woodward, K. J., Kirchhoff, M., Shi, L., Edelmann, L., Baynam, G., Scott, S. A. & Jabs, E. W., Jun 2021, In: Cold Spring Harbor molecular case studies. 7, 3, a005991.Research output: Contribution to journal › Article › peer-review
Open Access -
Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi-Ethnic Allele and Copy Number Variant Detection
Scott, S. A., Scott, E. R., Seki, Y., Chen, A. J., Wallsten, R., Owusu Obeng, A., Botton, M. R., Cody, N., Shi, H., Zhao, G., Brake, P., Nicoletti, P., Yang, Y., Delio, M., Shi, L., Kornreich, R., Schadt, E. E. & Edelmann, L., Jan 2021, In: Clinical and Translational Science. 14, 1, p. 204-213 10 p.Research output: Contribution to journal › Article › peer-review
Open Access7 Scopus citations
Press / Media
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Reports Summarize Life Science Findings from Icahn School of Medicine at Mount Sinai (Detection of Mosaic Variants Using Genome Sequencing In a Large Pediatric Cohort)
Lama Elkhoury & Lisa Edelmann
20/01/23
1 item of Media coverage
Press/Media
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The 'ideal location': Sema4 shows off its new Stamford lab
19/09/20
1 item of Media coverage
Press/Media
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The ‘ideal location' Sema4 shows off its new Stamford lab
18/09/20
1 item of Media coverage
Press/Media
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SEMA4 : Applies Data-Driven Approach to Expanded Carrier Screening, and Will Soon Utilize Exome Sequencing for Genetic Testing
11/10/19
2 items of Media coverage
Press/Media