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De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.
Dulovic-Mahlow M, Trinh J, Kandaswamy KK, Braathen GJ, Di Donato N, Rahikkala E, Beblo S, Werber M, Krajka V, Busk ØL, Baumann H, Al-Sannaa NA, Hinrichs F, Affan R, Navot N, Al Balwi MA, Oprea G, Holla ØL, Weiss MER, Jamra RA, Kahlert AK, Kishore S, Tveten K, Vos M, Rolfs A, Lohmann K. Dulovic-Mahlow M, et al. Among authors: oprea g. Am J Hum Genet. 2019 Jul 3;105(1):213-220. doi: 10.1016/j.ajhg.2019.05.005. Epub 2019 Jun 20. Am J Hum Genet. 2019. PMID: 31230721 Free PMC article.
Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.
Lohmann K, Masuho I, Patil DN, Baumann H, Hebert E, Steinrücke S, Trujillano D, Skamangas NK, Dobricic V, Hüning I, Gillessen-Kaesbach G, Westenberger A, Savic-Pavicevic D, Münchau A, Oprea G, Klein C, Rolfs A, Martemyanov KA. Lohmann K, et al. Among authors: oprea g. Hum Mol Genet. 2017 Mar 15;26(6):1078-1086. doi: 10.1093/hmg/ddx018. Hum Mol Genet. 2017. PMID: 28087732 Free PMC article.
Unmet needs in human genomic variant interpretation.
Bauer P, Karges E, Oprea G, Rolfs A. Bauer P, et al. Among authors: oprea g. Genet Med. 2018 Mar;20(3):376-377. doi: 10.1038/gim.2017.187. Epub 2017 Oct 26. Genet Med. 2018. PMID: 29261185 Free article. No abstract available.
Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population.
Bauer P, Kandaswamy KK, Weiss MER, Paknia O, Werber M, Bertoli-Avella AM, Yüksel Z, Bochinska M, Oprea GE, Kishore S, Weckesser V, Karges E, Rolfs A. Bauer P, et al. Genet Med. 2019 Jan;21(1):53-61. doi: 10.1038/s41436-018-0016-6. Epub 2018 Aug 13. Genet Med. 2019. PMID: 30100613 Free PMC article.
41 results