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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: basal a. 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.
De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila.
Chung HL, Rump P, Lu D, Glassford MR, Mok JW, Fatih J, Basal A, Marcogliese PC, Kanca O, Rapp M, Fock JM, Kamsteeg EJ, Lupski JR, Larson A, Haninbal MC, Bellen H, Harel T. Chung HL, et al. Among authors: basal a. Hum Mol Genet. 2022 Sep 29;31(19):3231-3244. doi: 10.1093/hmg/ddac053. Hum Mol Genet. 2022. PMID: 35234901 Free PMC article.
Levodopa-responsive dystonia caused by biallelic PRKN exon inversion invisible to exome sequencing.
Mor-Shaked H, Paz-Ebstein E, Basal A, Ben-Haim S, Grobe H, Heymann S, Israel Z, Namnah M, Nitzan A, Rosenbluh C, Saada A, Tzur T, Yanovsky-Dagan S, Zaidel-Bar R, Harel T, Arkadir D. Mor-Shaked H, et al. Among authors: basal a. Brain Commun. 2021 Sep 6;3(3):fcab197. doi: 10.1093/braincomms/fcab197. eCollection 2021. Brain Commun. 2021. PMID: 34514401 Free PMC article.