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Pre- and postnatal findings in a patient with a recombinant chromosome rec(8)(qter→q21.11::p23.3→qter) due to a paternal pericentric inversion inv(8)(p23.3q21.11) and review of the literature.
Habhab W, Mau-Holzmann U, Singer S, Rieß A, Kagan KO, Gerbig I, Schäferhoff K, Dufke A, Kehrer M. Habhab W, et al. Among authors: kagan ko. Am J Med Genet A. 2020 Nov;182(11):2680-2684. doi: 10.1002/ajmg.a.61804. Epub 2020 Aug 16. Am J Med Genet A. 2020. PMID: 32803851 Review.
Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta.
Garbes L, Kim K, Rieß A, Hoyer-Kuhn H, Beleggia F, Bevot A, Kim MJ, Huh YH, Kweon HS, Savarirayan R, Amor D, Kakadia PM, Lindig T, Kagan KO, Becker J, Boyadjiev SA, Wollnik B, Semler O, Bohlander SK, Kim J, Netzer C. Garbes L, et al. Among authors: kagan ko. Am J Hum Genet. 2015 Mar 5;96(3):432-9. doi: 10.1016/j.ajhg.2015.01.002. Epub 2015 Feb 12. Am J Hum Genet. 2015. PMID: 25683121 Free PMC article.
Renal cystic disease and associated ciliopathies.
Kagan KO, Dufke A, Gembruch U. Kagan KO, et al. Curr Opin Obstet Gynecol. 2017 Apr;29(2):85-94. doi: 10.1097/GCO.0000000000000348. Curr Opin Obstet Gynecol. 2017. PMID: 28151755 Review.
Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex.
Falb RJ, Müller AJ, Klein W, Grimmel M, Grasshoff U, Spranger S, Stöbe P, Gauck D, Kuechler A, Dikow N, Schwaibold EMC, Schmidt C, Averdunk L, Buchert R, Heinrich T, Prodan N, Park J, Kehrer M, Sturm M, Kelemen O, Hartmann S, Horn D, Emmerich D, Hirt N, Neumann A, Kristiansen G, Gembruch U, Haen S, Siebert R, Hentze S, Hoopmann M, Ossowski S, Waldmüller S, Beck-Wödl S, Gläser D, Tekesin I, Distelmaier F, Riess O, Kagan KO, Dufke A, Haack TB. Falb RJ, et al. Among authors: kagan ko. J Med Genet. 2023 Jan;60(1):48-56. doi: 10.1136/jmedgenet-2021-108064. Epub 2021 Nov 5. J Med Genet. 2023. PMID: 34740919 Free PMC article.
A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies.
Dufke A, Hoopmann M, Waldmüller S, Prodan NC, Beck-Wödl S, Grasshoff U, Heinrich T, Riess A, Kehrer M, Falb RJ, Liebmann A, Roggia C, Stampfer M, Schadeck M, Müller AJ, Grimmel M, Stöbe P, Gauck D, Buchert-Lo R, Baumann S, Schäferhoff K, Bertrand M, Menden B, Sturm M, Schütz L, Riess O, Ossowski S, Haack TB, Kagan KO. Dufke A, et al. Among authors: kagan ko. Prenat Diagn. 2022 Jun;42(7):901-910. doi: 10.1002/pd.6170. Epub 2022 May 20. Prenat Diagn. 2022. PMID: 35574990
197 results