Francesco Brancati

Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions

Darío G. Lupiáñez, Katerina Kraft, Verena Heinrich et al. · Cell · 2015 · 2.2K citations · Full text

Chromatin, Chromatin Structure, Chromatin Remodeling +11

Formation of new chromatin domains determines pathogenicity of genomic duplications

Martin Franke, Daniel M. Ibrahim, Guillaume Andrey et al. · Nature · 2016 · 701 citations · Full text

Chromatin, Genome Instability, Chromatin Structure +12

Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations

Nicole Revençu, Laurence M. Boon, John B. Mulliken et al. · Human Mutation · 2008 · 424 citations

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

Stephanie Bielas, Jennifer L. Silhavy, Francesco Brancati et al. · Nature Genetics · 2009 · 408 citations · Full text

Signal Transduction, Signaling Pathway, Cell Signaling +9

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

Enza Maria Valente, Jennifer L. Silhavy, Francesco Brancati et al. · Nature Genetics · 2006 · 400 citations

Developmental Biology, Mendelian Disorder, Joubert Syndrome +9