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Page 1
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.
Marbach F, Stoyanov G, Erger F, Stratakis CA, Settas N, London E, Rosenfeld JA, Torti E, Haldeman-Englert C, Sklirou E, Kessler E, Ceulemans S, Nelson SF, Martinez-Agosto JA, Palmer CGS, Signer RH; Undiagnosed Diseases Network; Andrews MV, Grange DK, Willaert R, Person R, Telegrafi A, Sievers A, Laugsch M, Theiß S, Cheng Y, Lichtarge O, Katsonis P, Stocco A, Schaaf CP. Marbach F, et al. Among authors: laugsch m. Genet Med. 2021 Aug;23(8):1465-1473. doi: 10.1038/s41436-021-01152-7. Epub 2021 Apr 8. Genet Med. 2021. PMID: 33833410 Free PMC article.
MiRNA-149 as a Candidate for Facial Clefting and Neural Crest Cell Migration.
Stüssel LG, Hollstein R, Laugsch M, Hochfeld LM, Welzenbach J, Schröder J, Thieme F, Ishorst N, Romero RO, Weinhold L, Hess T, Gehlen J, Mostowska A, Heilmann-Heimbach S, Mangold E, Rada-Iglesias A, Knapp M, Schaaf CP, Ludwig KU. Stüssel LG, et al. Among authors: laugsch m. J Dent Res. 2022 Mar;101(3):323-330. doi: 10.1177/00220345211038203. Epub 2021 Sep 16. J Dent Res. 2022. PMID: 34528480
Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology.
Kargapolova Y, Rehimi R, Kayserili H, Brühl J, Sofiadis K, Zirkel A, Palikyras S, Mizi A, Li Y, Yigit G, Hoischen A, Frank S, Russ N, Trautwein J, van Bon B, Gilissen C, Laugsch M, Gusmao EG, Josipovic N, Altmüller J, Nürnberg P, Längst G, Kaiser FJ, Watrin E, Brunner H, Rada-Iglesias A, Kurian L, Wollnik B, Bouazoune K, Papantonis A. Kargapolova Y, et al. Among authors: laugsch m. Nat Commun. 2021 May 21;12(1):3014. doi: 10.1038/s41467-021-23327-1. Nat Commun. 2021. PMID: 34021162 Free PMC article.
Modeling the Pathological Long-Range Regulatory Effects of Human Structural Variation with Patient-Specific hiPSCs.
Laugsch M, Bartusel M, Rehimi R, Alirzayeva H, Karaolidou A, Crispatzu G, Zentis P, Nikolic M, Bleckwehl T, Kolovos P, van Ijcken WFJ, Šarić T, Koehler K, Frommolt P, Lachlan K, Baptista J, Rada-Iglesias A. Laugsch M, et al. Cell Stem Cell. 2019 May 2;24(5):736-752.e12. doi: 10.1016/j.stem.2019.03.004. Epub 2019 Apr 11. Cell Stem Cell. 2019. PMID: 30982769 Free article.
Dosage analysis of the 7q11.23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication.
Zanella M, Vitriolo A, Andirko A, Martins PT, Sturm S, O'Rourke T, Laugsch M, Malerba N, Skaros A, Trattaro S, Germain PL, Mihailovic M, Merla G, Rada-Iglesias A, Boeckx C, Testa G. Zanella M, et al. Among authors: laugsch m. Sci Adv. 2019 Dec 4;5(12):eaaw7908. doi: 10.1126/sciadv.aaw7908. eCollection 2019 Dec. Sci Adv. 2019. PMID: 31840056 Free PMC article.
Enhancer-associated H3K4 methylation safeguards in vitro germline competence.
Bleckwehl T, Crispatzu G, Schaaf K, Respuela P, Bartusel M, Benson L, Clark SJ, Dorighi KM, Barral A, Laugsch M, van IJcken WFJ, Manzanares M, Wysocka J, Reik W, Rada-Iglesias Á. Bleckwehl T, et al. Among authors: laugsch m. Nat Commun. 2021 Oct 1;12(1):5771. doi: 10.1038/s41467-021-26065-6. Nat Commun. 2021. PMID: 34599190 Free PMC article.
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