Yana Bromberg

Kasak, L., Bakolitsa, C., Hu, Z., Yu, C., Rine, J., Dimster-Denk, D. F., Pandey, G., De Baets, G., Bromberg, Y., Cao, C., Capriotti, E., Casadio, R., Van Durme, J., Giollo, M., Karchin, R., Katsonis, P., Leonardi, E., Lichtarge, O., Martelli, P. L., Masica, D. & 15 others, Mooney, S. D., Olatubosun, A., Radivojac, P., Rousseau, F., Pal, L. R., Savojardo, C., Schymkowitz, J., Thusberg, J., Tosatto, S. C. E., Vihinen, M., Väliaho, J., Repo, S., Moult, J., Brenner, S. E. & Friedberg, I., Sep 1 2019, In : Human mutation. 40, 9, p. 1530-1545 16 p.

Research output: Contribution to journal › Article

Cystathionine beta-Synthase

Cystathionine

Homocystinuria

Phenotype

Hyperhomocysteinemia

3 Citations (Scopus)

Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancer

Voskanian, A., Katsonis, P., Lichtarge, O., Pejaver, V., Radivojac, P., Mooney, S. D., Capriotti, E., Bromberg, Y., Wang, Y., Miller, M., Martelli, P. L., Savojardo, C., Babbi, G., Casadio, R., Cao, Y., Sun, Y., Shen, Y., Garg, A., Pal, D., Yu, Y. & 9 others, Huff, C. D., Tavtigian, S. V., Young, E., Neuhausen, S. L., Ziv, E., Pal, L. R., Andreoletti, G., Brenner, S. E. & Kann, M. G., Sep 1 2019, In : Human mutation. 40, 9, p. 1612-1622 11 p.

Research output: Contribution to journal › Article

Checkpoint Kinase 2

Hispanic Americans

Computer Simulation

Virulence

Breast Neoplasms

2 Citations (Scopus)

Assessment of methods for predicting the effects of PTEN and TPMT protein variants

Pejaver, V., Babbi, G., Casadio, R., Folkman, L., Katsonis, P., Kundu, K., Lichtarge, O., Martelli, P. L., Miller, M., Moult, J., Pal, L. R., Savojardo, C., Yin, Y., Zhou, Y., Radivojac, P. & Bromberg, Y., Sep 1 2019, In : Human mutation. 40, 9, p. 1495-1506 12 p.

Research output: Contribution to journal › Article

PTEN Phosphohydrolase

Mutation

Inborn Genetic Diseases

Proxy

Thermodynamics

2 Citations (Scopus)

Assessment of predicted enzymatic activity of α-N-acetylglucosaminidase variants of unknown significance for CAGI 2016

Clark, W. T., Kasak, L., Bakolitsa, C., Hu, Z., Andreoletti, G., Babbi, G., Bromberg, Y., Casadio, R., Dunbrack, R., Folkman, L., Ford, C. T., Jones, D., Katsonis, P., Kundu, K., Lichtarge, O., Martelli, P. L., Mooney, S. D., Nodzak, C., Pal, L. R., Radivojac, P. & 13 others, Savojardo, C., Shi, X., Zhou, Y., Uppal, A., Xu, Q., Yin, Y., Pejaver, V., Wang, M., Wei, L., Moult, J., Yu, G. K., Brenner, S. E. & LeBowitz, J. H., Sep 1 2019, In : Human mutation. 40, 9, p. 1519-1529 11 p.

Research output: Contribution to journal › Article

Acetylglucosaminidase

Mucopolysaccharidosis III

Hydrolases

Missense Mutation

Rare Diseases

Fingerprinting cities: differentiating subway microbiome functionality

Zhu, C., Miller, M., Lusskin, N., Mahlich, Y., Wang, Y., Zeng, Z. & Bromberg, Y., Oct 30 2019, In : Biology direct. 14, 1, 1 p.

Research output: Contribution to journal › Article

Open Access

Railroads

Subways

Fingerprinting

Microbiota

Functional analysis