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 · 210 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +15

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 · 166 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Life Sciences, Genetics, Molecular Genetics +15

Succinyl-CoA Ligase Deficiency: A Mitochondrial Hepatoencephalomyopathy

Johan L.K. Van Hove, Margarita Sáenz, Janet A. Thomas et al. · Pediatric Research · 2010 · 83 citations · Full text

Life Sciences, Biochemistry, Neurology +14

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Michael D. Fountain, David S. Oleson, Megan Rech et al. · Genetics in Medicine · 2019 · 81 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17