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Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.
Le Duc D, Giulivi C, Hiatt SM, Napoli E, Panoutsopoulos A, Harlan De Crescenzo A, Kotzaeridou U, Syrbe S, Anagnostou E, Azage M, Bend R, Begtrup A, Brown NJ, Büttner B, Cho MT, Cooper GM, Doering JH, Dubourg C, Everman DB, Hildebrand MS, Santos FJR, Kellam B, Keller-Ramey J, Lemke JR, Liu S, Niyazov D, Payne K, Person R, Quélin C, Schnur RE, Smith BT, Strober J, Walker S, Wallis M, Walsh L, Yang S, Yuen RKC, Ziegler A, Sticht H, Pride MC, Orosco L, Martínez-Cerdeño V, Silverman JL, Crawley JN, Scherer SW, Zarbalis KS, Jamra R. Le Duc D, et al. Brain. 2019 Sep 1;142(9):2617-2630. doi: 10.1093/brain/awz198. Brain. 2019. PMID: 31327001 Free PMC article.
Reduced lipolysis in lipoma phenocopies lipid accumulation in obesity.
Le Duc D, Lin CC, Popkova Y, Yang Z, Akhil V, Çakir MV, Grunewald S, Simon JC, Dietz A, Dannenberger D, Garten A, Lemke JR, Schiller J, Blüher M, Nono Nankam PA, Rolle-Kampczyk U, von Bergen M, Kelso J, Schöneberg T. Le Duc D, et al. Int J Obes (Lond). 2021 Mar;45(3):565-576. doi: 10.1038/s41366-020-00716-y. Epub 2020 Nov 24. Int J Obes (Lond). 2021. PMID: 33235355 Free PMC article.
The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals.
Zacher P, Mayer T, Brandhoff F, Bartolomaeus T, Le Duc D, Finzel M, Heinze A, Horn S, Klöckner C, Körber G, Hentschel J, Kalita M, Krey I, Nastainczyk-Wulf M, Platzer K, Rebstock J, Popp B, Stiller M, Teichmann AC, Jamra RA, Lemke JR. Zacher P, et al. Among authors: le duc d. Genet Med. 2021 Aug;23(8):1492-1497. doi: 10.1038/s41436-021-01153-6. Epub 2021 Apr 28. Genet Med. 2021. PMID: 33911214 Free PMC article.
Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain.
Neuser S, Krey I, Schwan A, Abou Jamra R, Bartolomaeus T, Döring J, Syrbe S, Plassmann M, Rohde S, Roth C, Rehder H, Radtke M, Le Duc D, Schubert S, Bermúdez-Guzmán L, Leal A, Schoner K, Popp B. Neuser S, et al. Among authors: le duc d. Eur J Hum Genet. 2022 Jan;30(1):101-110. doi: 10.1038/s41431-021-00982-y. Epub 2021 Oct 25. Eur J Hum Genet. 2022. PMID: 34697416 Free PMC article.
Improving one-step scarless genome editing in Drosophila melanogaster by combining ovoD co-CRISPR selection with sgRNA target site masking.
Götze KJ, Mrestani A, Beckmann P, Krohn K, Le Duc D, Velluva A, Böhme MA, Heckmann M, Abou Jamra R, Lemke JR, Bläker H, Scholz N, Ljaschenko D, Langenhan T. Götze KJ, et al. Among authors: le duc d. Biol Methods Protoc. 2022 Jan 12;7(1):bpac003. doi: 10.1093/biomethods/bpac003. eCollection 2022. Biol Methods Protoc. 2022. PMID: 35087953 Free PMC article.
102 results