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Dive into the research topics where Ginat Narkis is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Research output
- 25 Article
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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 -
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 -
Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases
Levy, M., Elron, E., Shohat, M., Lifshitz, S., Kahana, S., Shani, H., Grossman, A., Amar, S., Narkis, G., Sagi-Dain, L., Basel-Salmon, L. & Maya, I., 1 Jul 2024, In: Journal of Human Genetics. 69, 7, p. 337-343 7 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19
Hadar, N., Dolgin, V., Oustinov, K., Yogev, Y., Poleg, T., Safran, A., Freund, O., Agam, N., Jean, M. M., Proskorovski-Ohayon, R., Wormser, O., Drabkin, M., Halperin, D., Eskin-Schwartz, M., Narkis, G., Sued-Hendrickson, S., Aminov, I., Gombosh, M., Aharoni, S. & Birk, O. S., 1 May 2024, In: Human Genetics. 143, 5, p. 695-701 7 p.Research output: Contribution to journal › Article › peer-review
9 Scopus citations -
STRavinsky STR database and PGTailor PGT tool demonstrate superiority of CHM13-T2T over hg38 and hg19 for STR-based applications
Hadar, N., Narkis, G., Amar, S., Varnavsky, M., Palti, G. C., Safran, A. & Birk, O. S., 1 Jul 2023, In: European Journal of Human Genetics. 31, 7, p. 738-743 6 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers
Perez, Y., Wormser, O., Sadaka, Y., Birk, R., Narkis, G. & Birk, O. S., 1 Jan 2017, In: BioMed Research International. 2017, 3470234.Research output: Contribution to journal › Article › peer-review
Open Access13 Scopus citations -
Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred
Gradstein, L., Zolotushko, J., Sergeev, Y. V., Lavy, I., Narkis, G., Perez, Y., Guigui, S., Sharon, D., Banin, E., Walter, E., Lifshitz, T. & Birk, O. S., 30 Jul 2016, In: BMC Medical Genetics. 17, 1, 52.Research output: Contribution to journal › Article › peer-review
Open Access16 Scopus citations -
The stage-dependent roles of Ldb1 and functional redundancy with Ldb2 in mammalian retinogenesis
Gueta, K., David, A., Cohen, T., Menuchin-Lasowski, Y., Nobel, H., Narkis, G., Li, L. Q., Love, P., De Melo, J., Blackshaw, S., Westphal, H. & Ashery-Padan, R., 15 Nov 2016, In: Development (Cambridge). 143, 22, p. 4182-4192 11 p.Research output: Contribution to journal › Article › peer-review
Open Access28 Scopus citations -
A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A
Fine, D., Flusser, H., Markus, B., Shorer, Z., Gradstein, L., Khateeb, S., Langer, Y., Narkis, G., Birk, R., Galil, A., Shelef, I. & Birk, O. S., 1 Dec 2015, In: European Journal of Human Genetics. 23, 12, p. 1729-1734 6 p.Research output: Contribution to journal › Article › peer-review
Open Access22 Scopus citations -
Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase
Cohen, I., Silberstein, E., Perez, Y., Landau, D., Elbedour, K., Langer, Y., Kadir, R., Volodarsky, M., Sivan, S., Narkis, G. & Birk, O. S., 1 Mar 2014, In: European Journal of Human Genetics. 22, 3, p. 374-378 5 p.Research output: Contribution to journal › Article › peer-review
Open Access56 Scopus citations
Thesis
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Identification of the Genetic Defect Underlying a Unique From of a Lethal Congenital Contractural Syndrome in a Israeli Bedouin Kindred
Narkis, G. (Author), Birk, O. (Supervisor) & Manor, E. (Supervisor), 2006Student thesis: Doctoral Thesis