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The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.
Vos N, Haghshenas S, van der Laan L, Russel PKM, Rooney K, Levy MA, Relator R, Kerkhof J, McConkey H, Maas SM, Vissers LELM, de Vries BBA, Pfundt R, Elting MW, van Hagen JM, Verbeek NE, Jongmans MCJ, Lakeman P, Rumping L, Bosch DGM, Vitobello A, Thauvin-Robinet C, Faivre L, Nambot S, Garde A, Willems M, Genevieve D, Nicolas G, Busa T, Toutain A, Gérard M, Bizaoui V, Isidor B, Merla G, Accadia M, Schwartz CE, Ounap K, Hoffer MJV, Nezarati MM, van den Boogaard MH, Tedder ML, Rogers C, Brusco A, Ferrero GB, Spodenkiewicz M, Sidlow R, Mussa A, Trajkova S, McCann E, Mroczkowski HJ, Jansen S, Donker-Kaat L, Duijkers FAM, Stuurman KE, Mannens MMAM, Alders M, Henneman P, White SM, Sadikovic B, van Haelst MM. Vos N, et al. Among authors: schwartz ce. Hum Genet. 2024 May 24. doi: 10.1007/s00439-024-02679-w. Online ahead of print. Hum Genet. 2024. PMID: 38787418
Personal journeys to and in human genetics and dysmorphology.
Schwartz CE, Aylsworth AS, Allanson J, Battaglia A, Carey JC, Curry CJ, Davies KE, Eichler EE, Graham JM Jr, Hall B, Hall JG, Holmes LB, Hoyme HE, Hunter A, Innis J, Johnson J, Keppler-Noreuil KM, Leroy JG, Moore C, Nelson DL, Neri G, Opitz JM, Picketts D, Raymond FL, Shalev SA, Stevenson RE, Stumpel CTRM, Sutherland G, Viskochil DH, Weaver DD, Zackai EH. Schwartz CE, et al. Am J Med Genet A. 2024 Jun;194(6):e63514. doi: 10.1002/ajmg.a.63514. Epub 2024 Feb 8. Am J Med Genet A. 2024. PMID: 38329159
574 results