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Nature|October 6, 2016
Formation of new chromatin domains determines pathogenicity of genomic duplicationsMartin Franke, Daniel M Ibrahim, Guillaume Andrey, et al.Cell|May 12, 2015
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactionsDarío G Lupiáñez, Katerina Kraft, Verena Heinrich, et al.Genome Research|January 13, 2016
Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and miceMalte Spielmann, Naseebullah Kakar, Naeimeh Tayebi, et al.Nature Genetics|September 29, 2018
Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesisBjørt K Kragesteen, Malte Spielmann, Christina Paliou, et al.Nature Structural & Molecular Biology|June 18, 2021
Dnmt1 has de novo activity targeted to transposable elementsChuck Haggerty, Helene Kretzmer, Christina Riemenschneider, et al.Proceedings of the National Academy of Sciences of the United States of America|January 6, 2021
A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctionsMiguel Rodríguez de Los Santos, Marion Rivalan, Friederike S David, et al.Birth Defects Research. Part A, Clinical and Molecular Teratology|April 26, 2014
Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical regionMarkus Draaken, Friederike Baudisch, Bernd Timmermann, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 14, 2017
Noncoding copy-number variations are associated with congenital limb malformationRicarda Flöttmann, Bjørt K Kragesteen, Sinje Geuer, et al.European Journal of Human Genetics : EJHG|April 4, 2013
De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL associationAlina Hilger, Charlotte Schramm, Tracie Pennimpede, et al.Nature|August 20, 2025
A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasiaJean Jacobs, Hristiana Lyubenova, Sven Potelle, et al.Pageof 7