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Dive into the research topics where Ohad Birk 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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The Genetic Landscape of Inherited Retinal Diseases in the Israeli Population
Shalom, S., Gradstein, L., Pras, E., Valensi, J., Birk, O. S., Blumenfeld, A., Eilat, A., Macarov, M., Poleg, T., Cremers, F. P. M., Roosing, S., Panneman, D. M., Hollander, N., Goldenberg-Cohen, N., Yahalom, C., Banin, E., Ben-Yosef, T. & Sharon, D., 1 Apr 2026, In: Investigative Ophthalmology and Visual Science. 67, 4, 24.Research output: Contribution to journal › Article › peer-review
Open Access -
A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5’-UTR loss-of-function CEP83 variant
Jean, M. M., Yunis, A., Elbaz-Biton, T., Dolgin, V., Narkis, G., Michaelovsky, A., Eskin-Schwartz, M., Tsitrina, A. A., Agam, N., Poleg, T., Safran, A., Freund, O., Hadar, N., Levy, D., Shelef, I., El Amour, K., Flusser, H. & Birk, O. S., 1 Dec 2025, In: npj Genomic Medicine. 10, 1, 66.Research output: Contribution to journal › Article › peer-review
Open Access -
Early-Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B
Poleg, T., Hadar, N., Kristal, E., Roberts, N. Y., Dolgin, V., Aminov, I., Safran, A., Agam, N., Jean, M., Freund, O., Sheridan, E. G., Poulter, J. A., Thompson, M. L., Algoos, Y., Al-Qahtani, S., AlAbdi, L., Maddirevula, S., Hartill, V., Houlden, H. & Maroofian, R. & 2 others, , 1 Sep 2025, In: Movement Disorders. 40, 9, p. 1874-1882 9 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Genetic Terminal Complement Deficiency in Israeli Bedouins With Kidney Failure
Chowers, G., Ben-Ruby, D., Atias-Varon, D., Shlomovitz, O., Slabodnik-Kaner, K., Kagan, M., Avayou, S., Romanjuk, E., Rogachev, B., Haviv, Y. S., Birk, O. S., Hadar, N., Bathish, Y., Barshack, I., Volkov, A., Avivi, C., Pavlovsky, A., Haskin, O., Simon, A. J. & Glick-Saar, E. & 10 others, , 1 Apr 2025, In: Kidney International Reports. 10, 4, p. 1274-1278 5 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Intronic and Coding Genetic Variants in Autosomal Recessive Polycystic Kidney Disease Among Israeli Bedouins of Arabian Peninsula Ancestry
Agam, N., Wormser, O., Biller, A., Hadar, N., Dolgin, V., Freund, O., Jean, M. M., Safran, A., Poleg, T., Kanengisser-Pines, B., Kebesch-Assi, R., Mazor-Oring, M., Cohen-Zontag, O., Zmudjak-Olevson, M., Ben-Menachem, S., Ben-Ruby, D., Shlomovitz, O., Vivante, A., Dekel, B. & Birk, O. S. & 1 others, , 1 Dec 2025, In: American Journal of Kidney Diseases. 86, 6, p. 730-739.e1Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
Mitral Valve Prolapse Caused by TLL1 Gain-of-Function Mutation
Agam, N., Dolgin, V., Star, A., Freund, O., Jean, M. M., Safran, A., Poleg, T., Zahger, D. & Birk, O. S., 1 May 2025, In: Canadian Journal of Cardiology. 41, 5, p. 928-935 8 p.Research output: Contribution to journal › Article › peer-review
Open Access4 Scopus citations -
Multiethnic prevalence of the APOL1 G1 and G2 variants among the Israeli dialysis population
Ben-Ruby, D., Atias-Varon, D., Kagan, M., Chowers, G., Shlomovitz, O., Slabodnik-Kaner, K., Mano, N., Avayou, S., Atsmony, Y., Levin, D., Dotan, E., Calderon-Margalit, R., Shnaider, A., Haviv, Y. S., Birk, O. S., Hadar, N., Anikster, Y., Berar Yanay, N., Chernin, G. & Kruzel-Davila, E. & 11 others, , 1 Feb 2025, In: Clinical Kidney Journal. 18, 2, sfae397.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Novel BRAT1 Deep Intronic Variant Affects Splicing Regulatory Elements Causing Cerebellar Hypoplasia Syndrome: Genotypic and Phenotypic Expansion
Poleg, T., Proskorovski-Ohayon, R., Dolgin, V., Hadar, N., Safran, A., Agam, N., Jean, M. M., Freund, O., Gradstein, L., Shelef, I., Sadaka, Y. & Birk, O. S., 1 Mar 2025, In: Clinical Genetics. 107, 3, p. 348-353 6 p.Research output: Contribution to journal › Article › peer-review
2 Scopus citations -
Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter
Dolgin, V., Chabosseau, P., Bistritzer, J., Noyman, I., Staretz-Chacham, O., Wormser, O., Hadar, N., Eskin-Schwartz, M., Kanengisser-Pines, B., Narkis, G., Abramsky, R., Shany, E., Rutter, G. A., Marks, K. & Birk, O. S., 1 Jan 2025, In: JIMD Reports. 66, 1, e12465.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation
Poleg, T., Hadar, N., Heimer, G., Dolgin, V., Aminov, I., Safran, A., Agam, N., Jean, M. M., Freund, O., Kaur, S., Christodoulou, J., Ben-Zeev, B. & Birk, O. S., 1 Dec 2025, In: npj Genomic Medicine. 10, 1, 23.Research output: Contribution to journal › Article › peer-review
Open Access3 Scopus citations
Press/Media
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Recent Research from Ben-Gurion University of the Negev Highlight Findings in Hyperinsulinism (Hyperinsulinism/hyperammonemia Syndrome Caused By Biallelic Slc25a36 Mutation)
Birk, O., Safran, A., Staretz, O., Freund, O., Agam, N., Jean, M. M. & Eremenko, E.
16/03/23
1 item of Media coverage
Press/Media
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Deciphering molecular pathways of human monogenic structural birth defects
Birk, O. (PI)
1/01/23 → 31/12/26
Project: Research
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Analysis of unique genes in neural tube development and closure
Birk, O. (PI) & Westphal, H. (CoPI)
United States-Israel Binational Science Foundation (BSF)
1/01/07 → …
Project: Research
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Modeling and defining personalized therapies of neurological disorders using human pluripotent stem cells
Meshorer, E. (PI), Benvenisty, N. (CoPI), Levenberg, S. (CoPI) & Birk, O. (CoPI)
1/01/21 → 31/12/24
Project: Research
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Identification and characterization of the molecular basis of hereditary neuro-developmental disorders in inbred populations
Birk, O. (PI)
1/01/16 → 31/12/18
Project: Research
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Deciphering the Molecular Basis of Genetic Disorders of Mental Retardation with Microcephaly
Birk, O. (PI)
1/01/13 → 1/01/16
Project: Research
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Deciphering the molecular basis of genetic disorders of neuro-degeneration and obesity
Birk, O. (PI) & Birk, R. (CoPI)
1/01/09 → 1/01/12
Project: Research
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Deciphering the molecular basis of genetic disorders of neuro-degeneration and obesity
Birk, O. (PI) & Birk, R. (CoPI)
1/01/09 → 31/12/11
Project: Research
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Deciphering the molecular basis of genetic disordersof neuro-degeneration and obesity
Birk, O. (PI) & Birk, R. (CoPI)
1/01/09 → 31/12/11
Project: Research