Research output per year
Research output per year
Personal profile
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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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Collaborations and top research areas from the last five years
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An algorithm to identify patients aged 0–3 with rare genetic disorders
Webb, B. D., Lau, L. Y., Tsevdos, D., Shewcraft, R. A., Corrigan, D., Shi, L., Lee, S., Tyler, J., Li, S., Wang, Z., Stolovitzky, G., Edelmann, L., Chen, R., Schadt, E. E. & Li, L., Dec 2024, In: Orphanet Journal of Rare Diseases. 19, 1, 183.Research output: Contribution to journal › Article › peer-review
Open Access -
Familial RPL26 Variant Causing Congenital Anomalies Without Hematological Features of Diamond Blackfan Anemia
Karger, L. M., Webb, B. D., Edelmann, L., Liao, J. & Mehta, L., May 2025, In: American Journal of Medical Genetics, Part A. 197, 5, e63954.Research output: Contribution to journal › Article › peer-review
Open Access -
Clinical Pharmacogenomic MT-RNR1 Screening for Aminoglycoside-Induced Ototoxicity and the Post-Test Counseling Conundrum
Rigobello, R., Shaw, J., Ilg, D., Zimmerman, R., Edelmann, L., Kornreich, R., Scott, S. A. & Cody, N., Aug 2023, In: Clinical Pharmacology and Therapeutics. 114, 2, p. 262-265 4 p.Research output: Contribution to journal › Article › peer-review
3 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, , Mar 2023, In: American Journal of Medical Genetics, Part A. 191, 3, p. 699-710 12 p.Research output: Contribution to journal › Article › peer-review
Open Access8 Scopus citations -
Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program
Bonini, K. E., Thomas-Wilson, A., Marathe, P. N., Sebastin, M., Odgis, J. A., Di Biase, M., Kelly, N. R., Ramos, M. A., Insel, B. J., Scarimbolo, L., Rehman, A. U., Guha, S., Okur, V., Abhyankar, A., Phadke, S., Nava, C., Gallagher, K. M., Elkhoury, L., Edelmann, L. & Zinberg, R. E. & 9 others, , Aug 2023, In: Clinical Genetics. 104, 2, p. 210-225 16 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations
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