Margarita Sáenz

USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder

Yi-Heng Hao, Michael D. Fountain, Klementina Fon Tacer et al. · Molecular Cell · 2015 · 200 citations · Full text

Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder

Tom S. Koemans, Tjitske Kleefstra, Melissa C. Chubak et al. · PLoS Genetics · 2017 · 159 citations · Full text

Histone Modifications, Epigenetic Change, Genetics +18

Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features

Jessica X. Chong, Joon‐Ho Yu, Peter Lorentzen et al. · Genetics in Medicine · 2015 · 115 citations · Full text

Functional Genomics, Developmental Biology, Mendelian Disorder +10

Succinyl-CoA Ligase Deficiency: A Mitochondrial Hepatoencephalomyopathy

Johan L.K. Van Hove, Margarita Sáenz, Janet A. Thomas et al. · Pediatric Research · 2010 · 81 citations · Full text

Succinyl-coa Ligase Deficiency, Hepatology, Mitochondrial Function +4

Natural history and genotype‐phenotype correlations in 72 individuals with <i>SATB2</i>‐associated syndrome

Yuri A. Zárate, Constance Smith‐Hicks, Carol L. Greene et al. · American Journal of Medical Genetics Part A · 2018 · 73 citations