Shay Ben Shachar

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89 Article
4 Letter
2 Comment/debate
2 Review article

Clinical Updates and Surveillance Recommendations for DNA Replication Repair Deficiency Syndromes in Children and Young Adults
Das, A., MacFarland, S. P., Meade, J., Hansford, J. R., Schneider, K. W., Kuiper, R. P., Jongmans, M. C. J., Lesmana, H., Schultz, K. A. P., Nichols, K. E., Durno, C., Zelley, K., Porter, C. C., States, L. J., Ben-Shachar, S., Savage, S. A., Kalish, J. M., Walsh, M. F., Scott, H. S. & Plon, S. E. & 1 others, Tabori, U., 15 Aug 2024, In: Clinical Cancer Research. 30, 16, p. 3378-3387 10 p.
Research output: Contribution to journal › Review article › peer-review

Open Access
1 Scopus citations
PANGEN: an online platform for the comparison and creation of diagnostic gene panels
Isakov, O., Marek-Yagel, D., Greenberg, R., Naftali, M. & Ben-Shachar, S., 2024, In: Database : the journal of biological databases and curation. 2024, baae065.
Research output: Contribution to journal › Article › peer-review

Open Access
A rare genotype of biallelic mosaic variants in BCOR gene causing a bilateral ocular anterior segment dysgenesis and cataracts
Mezad-Koursh, D., Rosenfeld, E., Bachar Zipori, A., Zur, D., Elhanan, E. & Ben-Shachar, S., Jan 2023, In: European Journal of Human Genetics. 31, 1, p. 125-127 3 p.
Research output: Contribution to journal › Article › peer-review

Open Access
3 Scopus citations
Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects (Nature Communications, (2023), 14, 1, (3403), 10.1038/s41467-023-39040-0)
Ayers, K. L., Eggers, S., Rollo, B. N., Smith, K. R., Davidson, N. M., Siddall, N. A., Zhao, L., Bowles, J., Weiss, K., Zanni, G., Burglen, L., Ben-Shachar, S., Rosensaft, J., Raas-Rothschild, A., Jørgensen, A., Schittenhelm, R. B., Huang, C., Robevska, G., van den Bergen, J. & Casagranda, F. & 23 others, Cyza, J., Pachernegg, S., Wright, D. K., Bahlo, M., Oshlack, A., O’Brien, T. J., Kwan, P., Koopman, P., Hime, G. R., Girard, N., Hoffmann, C., Shilon, Y., Zung, A., Bertini, E., Milh, M., Ben Rhouma, B., Belguith, N., Bashamboo, A., McElreavey, K., Banne, E., Weintrob, N., BenZeev, B. & Sinclair, A. H., Dec 2023, In: Nature Communications. 14, 1, 3566.
Research output: Contribution to journal › Comment/debate

Open Access
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders
Maroofian, R., Kaiyrzhanov, R., Cali, E., Zamani, M., Zaki, M. S., Ferla, M., Tortora, D., Sadeghian, S., Saadi, S. M., Abdullah, U., Karimiani, E. G., Efthymiou, S., Yeşil, G., Alavi, S., Al Shamsi, A. M., Tajsharghi, H., Abdel-Hamid, M. S., Saadi, N. W., Al Mutairi, F. & Alabdi, L. & 66 others, Beetz, C., Ali, Z., Toosi, M. B., Rudnik-Schöneborn, S., Babaei, M., Isohanni, P., Muhammad, J., Khan, S., Al Shalan, M., Hickey, S. E., Marom, D., Elhanan, E., Kurian, M. A., Marafi, D., Saberi, A., Hamid, M., Spaull, R., Meng, L., Lalani, S., Maqbool, S., Rahman, F., Seeger, J., Palculict, T. B., Lau, T., Murphy, D., Mencacci, N. E., Steindl, K., Begemann, A., Rauch, A., Akbas, S., Aslanger, A. D., Salpietro, V., Yousaf, H., Ben-Shachar, S., Ejeskär, K., Al Aqeel, A. I., High, F. A., Armstrong-Javors, A. E., Zahraei, S. M., Seifi, T., Zeighami, J., Shariati, G., Sedaghat, A., Asl, S. N., Shahrooei, M., Zifarelli, G., Burglen, L., Ravelli, C., Zschocke, J., Schatz, U. A., Ghavideldarestani, M., Kamel, W. A., Van Esch, H., Hackenberg, A., Taylor, J. C., Al-Gazali, L., Bauer, P., Gleeson, J. J., Alkuraya, F. S., Lupski, J. R., Galehdari, H., Azizimalamiri, R., Chung, W. K., Baig, S. M., Houlden, H. & Severino, M., 1 Dec 2023, In: Brain. 146, 12, p. 5031-5043 13 p.
Research output: Contribution to journal › Article › peer-review

Open Access
3 Scopus citations

Shay Ben Shachar

Fingerprint

Collaborations and top research areas from the last five years

Dive into details

Clinical Updates and Surveillance Recommendations for DNA Replication Repair Deficiency Syndromes in Children and Young Adults

PANGEN: an online platform for the comparison and creation of diagnostic gene panels

A rare genotype of biallelic mosaic variants in BCOR gene causing a bilateral ocular anterior segment dysgenesis and cataracts

Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects (Nature Communications, (2023), 14, 1, (3403), 10.1038/s41467-023-39040-0)

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

Shay Ben Shachar

Fingerprint

Collaborations and top research areas from the last five years

Research output

Clinical Updates and Surveillance Recommendations for DNA Replication Repair Deficiency Syndromes in Children and Young Adults

PANGEN: an online platform for the comparison and creation of diagnostic gene panels

A rare genotype of biallelic mosaic variants in BCOR gene causing a bilateral ocular anterior segment dysgenesis and cataracts

Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects (Nature Communications, (2023), 14, 1, (3403), 10.1038/s41467-023-39040-0)

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders