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Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy.
Roncarati R, Viviani Anselmi C, Krawitz P, Lattanzi G, von Kodolitsch Y, Perrot A, di Pasquale E, Papa L, Portararo P, Columbaro M, Forni A, Faggian G, Condorelli G, Robinson PN. Roncarati R, et al. Among authors: krawitz p. Eur J Hum Genet. 2013 Oct;21(10):1105-11. doi: 10.1038/ejhg.2013.16. Epub 2013 Mar 6. Eur J Hum Genet. 2013. PMID: 23463027 Free PMC article.
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Ebstein F, Küry S, Most V, Rosenfelt C, Scott-Boyer MP, van Woerden GM, Besnard T, Papendorf JJ, Studencka-Turski M, Wang T, Hsieh TC, Golnik R, Baldridge D, Forster C, de Konink C, Teurlings SMW, Vignard V, van Jaarsveld RH, Ades L, Cogné B, Mignot C, Deb W, Jongmans MCJ, Cole FS, van den Boogaard MH, Wambach JA, Wegner DJ, Yang S, Hannig V, Brault JA, Zadeh N, Bennetts B, Keren B, Gélineau AC, Powis Z, Towne M, Bachman K, Seeley A, Beck AE, Morrison J, Westman R, Averill K, Brunet T, Haasters J, Carter MT, Osmond M, Wheeler PG, Forzano F, Mohammed S, Trakadis Y, Accogli A, Harrison R, Guo Y, Hakonarson H, Rondeau S, Baujat G, Barcia G, Feichtinger RG, Mayr JA, Preisel M, Laumonnier F, Kallinich T, Knaus A, Isidor B, Krawitz P, Völker U, Hammer E, Droit A, Eichler EE, Elgersma Y, Hildebrand PW, Bolduc F, Krüger E, Bézieau S. Ebstein F, et al. Among authors: krawitz p. Sci Transl Med. 2023 May 31;15(698):eabo3189. doi: 10.1126/scitranslmed.abo3189. Epub 2023 May 31. Sci Transl Med. 2023. PMID: 37256937 Free PMC article.
Perspectives on the future of dysmorphology.
Solomon BD, Adam MP, Fong CT, Girisha KM, Hall JG, Hurst ACE, Krawitz PM, Moosa S, Phadke SR, Tekendo-Ngongang C, Wenger TL. Solomon BD, et al. Among authors: krawitz pm. Am J Med Genet A. 2023 Mar;191(3):659-671. doi: 10.1002/ajmg.a.63060. Epub 2022 Dec 9. Am J Med Genet A. 2023. PMID: 36484420 Free PMC article.
Microindel detection in short-read sequence data.
Krawitz P, Rödelsperger C, Jäger M, Jostins L, Bauer S, Robinson PN. Krawitz P, et al. Bioinformatics. 2010 Mar 15;26(6):722-9. doi: 10.1093/bioinformatics/btq027. Epub 2010 Feb 9. Bioinformatics. 2010. PMID: 20144947
151 results