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An Ashkenazi founder mutation in the PKHD1 gene.
Quint A, Sagi M, Carmi S, Daum H, Macarov M, Ben Neriah Z, Meiner V, Elpeleg O, Lerer I. Quint A, et al. Among authors: elpeleg o. Eur J Med Genet. 2016 Feb;59(2):86-90. doi: 10.1016/j.ejmg.2015.12.013. Epub 2015 Dec 23. Eur J Med Genet. 2016. PMID: 26721323
Grandparental genotyping enhances exome variant interpretation.
Daum H, Mor-Shaked H, Ta-Shma A, Shaag A, Silverstein S, Shohat M, Elpeleg O, Meiner V, Harel T. Daum H, et al. Among authors: elpeleg o. Am J Med Genet A. 2020 Apr;182(4):689-696. doi: 10.1002/ajmg.a.61511. Epub 2020 Feb 6. Am J Med Genet A. 2020. PMID: 32027463
The H syndrome is caused by mutations in the nucleoside transporter hENT3.
Molho-Pessach V, Lerer I, Abeliovich D, Agha Z, Abu Libdeh A, Broshtilova V, Elpeleg O, Zlotogorski A. Molho-Pessach V, et al. Among authors: elpeleg o. Am J Hum Genet. 2008 Oct;83(4):529-34. doi: 10.1016/j.ajhg.2008.09.013. Am J Hum Genet. 2008. PMID: 18940313 Free PMC article.
Exome sequencing for structurally normal fetuses-yields and ethical issues.
Daum H, Harel T, Millo T, Eilat A, Fahham D, Gershon-Naamat S, Basal A, Rosenbluh C, Yanai N, Porat S, Kabiri D, Yagel S, Valsky DV, Elpeleg O, Meiner V, Mor-Shaked H. Daum H, et al. Among authors: elpeleg o. Eur J Hum Genet. 2023 Feb;31(2):164-168. doi: 10.1038/s41431-022-01169-9. Epub 2022 Sep 7. Eur J Hum Genet. 2023. PMID: 36071243 Free PMC article.
An SNX10 mutation causes malignant osteopetrosis of infancy.
Aker M, Rouvinski A, Hashavia S, Ta-Shma A, Shaag A, Zenvirt S, Israel S, Weintraub M, Taraboulos A, Bar-Shavit Z, Elpeleg O. Aker M, et al. Among authors: elpeleg o. J Med Genet. 2012 Apr;49(4):221-6. doi: 10.1136/jmedgenet-2011-100520. J Med Genet. 2012. PMID: 22499339
309 results