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Dive into the research topics where Shay Ben Shachar 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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Evaluating the Impact of ClinGen Variant Curation Expert Panel Criteria Specifications on Variant Interpretation across Multiple Genes
Marek-Yagel, D., Greenberg, R., Naftali, M., Ben-Shachar, S. & Isakov, O., Jun 2026, In: Journal of Molecular Diagnostics. 28, 6, p. 493-503 11 p.Research output: Contribution to journal › Article › peer-review
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Incorporation of clinical and molecular variant properties improves the performance of in silico pathogenicity prediction tools
Isakov, O., Ashwal-Fluss, R., Marek-Yagel, D., Sunyaev, S. & Ben-Shachar, S., May 2026, In: Genetics in Medicine. 28, 5, 102557.Research output: Contribution to journal › Article › peer-review
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N-terminal truncating variants in CACNB1 cause a new congenital muscular disorder
Iturrate, A., Assia Batzir, N., Jaron, R., Garcia-Valentin, D., Nevado, J., Tenorio-Castano, J., Lapunzina, P., Lee, K., Greenberg, R., Sassi, D., Aharoni, S., Kuzminsky, A., Basel-Salmon, L., Orenstein, N., Fellig, Y., Ben-Shachar, S., Marek-Yagel, D. & Ruiz-Perez, V. L., Mar 2026, In: European Journal of Human Genetics. 34, 3, p. 314-323 10 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Psychologically informed reminder messages for promoting BRCA1/2 carrier screening: evidence from a large-scale population-based study
Mushkat, T., Greenberg, R., Isakov, O., Hayek, S., Raskas, H., Ben-Shachar, S. & Berliner-Senderey, A., Apr 2026, In: European Journal of Public Health. 36, 2Research output: Contribution to journal › Article › peer-review
Open Access -
SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum
Lee, E., Sim, S., Choi, H. J., Liang, E. Y., Le, C., Bina, R., Cohen, R., George, E., Kim, S. Y., Bhat, G., Falsey, E., Sidlow, R., Clinard, K., Ben-Shachar, S., England, E., Menendez, B., Herman, I., Nielsen, S., Punetha, J. & Bhola, P. & 32 others, , 2026, In: Human Molecular Genetics. 35, 4, ddag003.Research output: Contribution to journal › Article › peer-review
Open Access