Fernando Santos‐Simarro

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

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Przemysław Szafrański, Tomasz Gambin, Avinash V. Dharmadhikari et al. · Human Genetics · 2016 · 155 citations · Full text

Pulmonary Circulation, Vascular Malformation, Pathology +4

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

Michael A. Levy, Haley McConkey, Jennifer Kerkhof et al. · Human Genetics and Genomics Advances · 2021 · 149 citations · Full text

Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations

Masako Yaoita, Tetsuya Niihori, Seiji Mizuno et al. · Human Genetics · 2015 · 99 citations

Mendelian Disorder, Genetic Disorder, Noonan Syndrome Patients +10

CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype

Lara Rodríguez‐Laguna, Kristina Ibáñez, Gema Gordo et al. · Genetics in Medicine · 2018 · 78 citations · Full text

Developmental Biology, Genetic Disorder, Genetics +6