Publikationen Abt. Molekulare Humangenetik (H.-Hilger Ropers)

Petit, F.; Longoni, M.; Wells, J.; Maser, R. S.; Bogenschutz, E. L.; Dysart, M. J.; Contreras, H. T. M.; Frénois, F.; Pober, B. R.; Clark, R. D. et al.; Giampietro, P. F.; Ropers, H. H.; Hu, H.; Loscertales , M. ....; High, F. A.: PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects. The American Journal of Human Genetics 110 (10), S. 1787 - 1803 (2023)

Stellmach, C.; Sass, J.; Auber, B.; Boeker, M.; Wienker, T. F.; Heidel, A. J.; Benary, M.; Schumacher, S.; Ossowski, S.; Klauschen, F. et al.; Möller , Y.; Schmutzler, R.; Ustjanzew, A.; Werner, P.; Tomczak, A.; Hölter, T.; Thun, S.: Creation of a structured molecular genomics report for Germany as a local adaption of HL7's Genomic Reporting Implementation Guide. Journal of the American Medical Informatics Association 30 (6), S. 1179 - 1189 (2023)