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Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.
Scala M, Khan K, Beneteau C, Fox RG, von Hardenberg S, Khan A, Joubert M, Fievet L, Musquer M, Le Vaillant C, Holsclaw JK, Lim D, Berking AC, Accogli A, Giacomini T, Nobili L, Striano P, Zara F, Torella A, Nigro V, Cogné B, Salick MR, Kaykas A, Eggan K, Capra V, Bézieau S, Davis EE, Wells MF. Scala M, et al. Among authors: berking ac. Genet Med. 2024 Apr;26(4):101057. doi: 10.1016/j.gim.2023.101057. Epub 2023 Dec 27. Genet Med. 2024. PMID: 38158856 Free article.
Rare and potentially fatal - Cytogenetically cryptic TNIP1::PDGFRB and PCM1::FGFR1 fusion leading to myeloid/lymphoid neoplasms with eosinophilia in children.
Berking AC, Flaadt T, Behrens YL, Yoshimi A, Leipold A, Holzer U, Lang P, Quintanilla-Martinez L, Schlegelberger B, Reiter A, Niemeyer C, Strahm B, Göhring G. Berking AC, et al. Cancer Genet. 2023 Apr;272-273:29-34. doi: 10.1016/j.cancergen.2023.01.002. Epub 2023 Jan 7. Cancer Genet. 2023. PMID: 36657267
An investigation of genetic variability of DNA methyltransferases DNMT3A and 3B does not provide evidence for a major role in the pathogenesis of panic disorder and dimensional anxiety phenotypes.
Berking AC, Thiel C, Schiele MA, Baumann C, Kalisch R, Notzen S, Zwanzger P, Pané-Farré CA, Hamm A, Alpers GW, Fydrich T, Fehm L, Gerlach AL, Straube B, Kircher T, Rief W, Plag J, Ströhle A, Lang T, Wittchen HU, Arolt V, Romanos M, Pauli P, Reif A, Deckert J, Domschke K, Weber H. Berking AC, et al. J Neural Transm (Vienna). 2020 Nov;127(11):1527-1537. doi: 10.1007/s00702-020-02206-x. Epub 2020 May 29. J Neural Transm (Vienna). 2020. PMID: 32468273