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Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.
medRxiv [Preprint]. 2023 Aug 13:2023.08.08.23293829. doi: 10.1101/2023.08.08.23293829.
medRxiv. 2023.
PMID: 38328047
Free PMC article.
Preprint.
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.
Engal E, Oja KT, Maroofian R, Geminder O, Le TL, Marzin P, Guimier A, Mor E, Zvi N, Elefant N, Zaki MS, Gleeson JG, Muru K, Pajusalu S, Wojcik MH, Pachat D, Elmaksoud MA, Chan Jeong W, Lee H, Bauer P, Zifarelli G, Houlden H, Daana M, Elpeleg O, Amiel J, Lyonnet S, Gordon CT, Harel T, Õunap K, Salton M, Mor-Shaked H.
Engal E, et al. Among authors: oja kt.
Am J Hum Genet. 2023 Dec 7;110(12):2112-2119. doi: 10.1016/j.ajhg.2023.10.013. Epub 2023 Nov 13.
Am J Hum Genet. 2023.
PMID: 37963460
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Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome.
Engal E, Oja KT, Maroofian R, Geminder O, Le TL, Mor E, Tzvi N, Elefant N, Zaki MS, Gleeson JG, Muru K, Pajusalu S, Wojcik MH, Pachat D, Elmaksoud MA, Jeong WC, Lee H, Bauer P, Zifarelli G, Houlden H, Elpeleg O, Gordon C, Harel T, Õunap K, Salton M, Mor-Shaked H.
Engal E, et al. Among authors: oja kt.
medRxiv [Preprint]. 2023 Jun 27:2023.06.19.23291425. doi: 10.1101/2023.06.19.23291425.
medRxiv. 2023.
PMID: 37425688
Free PMC article.
Updated.
Preprint.
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Untargeted metabolomics profiling in pediatric patients and adult populations indicates a connection between lipid imbalance and epilepsy.
Oja KT, Ilisson M, Reinson K, Muru K, Reimand T, Peterson H, Fishman D, Esko T, Haller T, Kronberg J, Wojcik MH, Kennedy A, Michelotti G, O'Donnell-Luria A, Õiglane-Šlik E, Pajusalu S, Õunap K.
Oja KT, et al.
medRxiv [Preprint]. 2023 Mar 30:2023.03.29.23287640. doi: 10.1101/2023.03.29.23287640.
medRxiv. 2023.
PMID: 37034709
Free PMC article.
Preprint.
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Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans.
Fletcher SC, Hall C, Kennedy TJ, Pajusalu S, Wojcik MH, Boora U, Li C, Oja KT, Hendrix E, Westrip CA, Andrijes R, Piasecka SK, Singh M, El-Asrag ME, Ptasinska A, Tillmann V, Higgs MR, Carere DA, Beggs AD, Pappas J, Rabin R, Smerdon SJ, Stewart GS, Õunap K, Coleman ML.
Fletcher SC, et al. Among authors: oja kt.
J Clin Invest. 2023 Apr 3;133(7):e152784. doi: 10.1172/JCI152784.
J Clin Invest. 2023.
PMID: 36795492
Free PMC article.
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