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Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities.
Leslie JS, Hjeij R, Vivante A, Bearce EA, Dyer L, Wang J, Rawlins L, Kennedy J, Ubeyratna N, Fasham J, Irons ZH, Craig SB, Koenig J, George S, Pode-Shakked B, Bolkier Y, Barel O, Mane S, Frederiksen KK, Wenger O, Scott E, Cross HE, Lorentzen E, Norris DP, Anikster Y, Omran H, Grimes DT, Crosby AH, Baple EL. Leslie JS, et al. Among authors: anikster y. Genet Med. 2022 Nov;24(11):2249-2261. doi: 10.1016/j.gim.2022.07.019. Epub 2022 Sep 8. Genet Med. 2022. PMID: 36074124 Free PMC article.
Bitterness of glucose/galactose: novel mutations in the SLC5A1 gene.
Pode-Shakked B, Reish O, Aktuglu-Zeybek C, Kesselman D, Dekel B, Bujanover Y, Anikster Y. Pode-Shakked B, et al. Among authors: anikster y. J Pediatr Gastroenterol Nutr. 2014 Jan;58(1):57-60. doi: 10.1097/MPG.0000000000000114. J Pediatr Gastroenterol Nutr. 2014. PMID: 24048166
A human integrin-α3 mutation confers major renal developmental defects.
Shukrun R, Vivante A, Pleniceanu O, Vax E, Anikster Y, Dekel B, Lotan D. Shukrun R, et al. Among authors: anikster y. PLoS One. 2014 Mar 12;9(3):e90879. doi: 10.1371/journal.pone.0090879. eCollection 2014. PLoS One. 2014. PMID: 24621570 Free PMC article.
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
Zhu X, Petrovski S, Xie P, Ruzzo EK, Lu YF, McSweeney KM, Ben-Zeev B, Nissenkorn A, Anikster Y, Oz-Levi D, Dhindsa RS, Hitomi Y, Schoch K, Spillmann RC, Heimer G, Marek-Yagel D, Tzadok M, Han Y, Worley G, Goldstein J, Jiang YH, Lancet D, Pras E, Shashi V, McHale D, Need AC, Goldstein DB. Zhu X, et al. Among authors: anikster y. Genet Med. 2015 Oct;17(10):774-81. doi: 10.1038/gim.2014.191. Epub 2015 Jan 15. Genet Med. 2015. PMID: 25590979 Free PMC article.
SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.
Heimer G, Marek-Yagel D, Eyal E, Barel O, Oz Levi D, Hoffmann C, Ruzzo EK, Ganelin-Cohen E, Lancet D, Pras E, Rechavi G, Nissenkorn A, Anikster Y, Goldstein DB, Ben Zeev B. Heimer G, et al. Among authors: anikster y. Clin Genet. 2015 Oct;88(4):327-35. doi: 10.1111/cge.12637. Epub 2015 Jul 28. Clin Genet. 2015. PMID: 26138499
197 results