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Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.
Straub J, Konrad EDH, Grüner J, Toutain A, Bok LA, Cho MT, Crawford HP, Dubbs H, Douglas G, Jobling R, Johnson D, Krock B, Mikati MA, Nesbitt A, Nicolai J, Phillips M, Poduri A, Ortiz-Gonzalez XR, Powis Z, Santani A, Smith L, Stegmann APA, Stumpel C, Vreeburg M; Deciphering Developmental Disorders Study; Fliedner A, Gregor A, Sticht H, Zweier C. Straub J, et al. Among authors: fliedner a. Am J Hum Genet. 2018 Jan 4;102(1):44-57. doi: 10.1016/j.ajhg.2017.11.008. Epub 2017 Dec 21. Am J Hum Genet. 2018. PMID: 29276004 Free PMC article.
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.
Fliedner A, Kirchner P, Wiesener A, van de Beek I, Waisfisz Q, van Haelst M, Scott DA, Lalani SR, Rosenfeld JA, Azamian MS, Xia F, Dutra-Clarke M, Martinez-Agosto JA, Lee H; UCLA Clinical Genomics Center; Noh GJ, Lippa N, Alkelai A, Aggarwal V, Agre KE, Gavrilova R, Mirzaa GM, Straussberg R, Cohen R, Horist B, Krishnamurthy V, McWalter K, Juusola J, Davis-Keppen L, Ohden L, van Slegtenhorst M, de Man SA, Ekici AB, Gregor A, van de Laar I, Zweier C. Fliedner A, et al. Am J Hum Genet. 2020 Sep 3;107(3):544-554. doi: 10.1016/j.ajhg.2020.06.019. Epub 2020 Jul 29. Am J Hum Genet. 2020. PMID: 32730804 Free PMC article.
Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.
Gerber CB, Fliedner A, Bartsch O, Berland S, Dewenter M, Haug M, Hayes I, Marin-Reina P, Mark PR, Martinez-Castellano F, Maystadt I, Karadurmus D, Steindl K, Wiesener A, Zweier M, Sticht H, Zweier C. Gerber CB, et al. Among authors: fliedner a. Clin Genet. 2022 Sep;102(3):182-190. doi: 10.1111/cge.14173. Epub 2022 Jun 14. Clin Genet. 2022. PMID: 35662002 Free PMC article.
Quantification and characterization of PFASs in suspended particulate matter (SPM) of German rivers using EOF, dTOPA, (non-)target HRMS.
Simon F, Gehrenkemper L, Becher S, Dierkes G, Langhammer N, Cossmer A, von der Au M, Göckener B, Fliedner A, Rüdel H, Koschorreck J, Meermann B. Simon F, et al. Among authors: fliedner a. Sci Total Environ. 2023 Aug 10;885:163753. doi: 10.1016/j.scitotenv.2023.163753. Epub 2023 Apr 28. Sci Total Environ. 2023. PMID: 37121317
Strategies to prevent SARS-CoV-2 transmission in hemodialysis centres across Europe-lessons for the future.
Noordzij M, Meijers B, Gansevoort RT, Covic A, Duivenvoorden R, Hilbrands LB, Hemmelder MH, Jager KJ, Mjoen G, Nistor I, Parshina E, Pessolano G, Tuglular S, Vart P, Zanoli L, Franssen CFM; ERACODA collaborators. Noordzij M, et al. Clin Kidney J. 2022 Dec 2;16(4):662-675. doi: 10.1093/ckj/sfac253. eCollection 2023 Apr. Clin Kidney J. 2022. PMID: 37007687 Free PMC article. Review.
42 results