Margarita Sáenz
Children's Hospital Colorado(US)University of Colorado Anschutz Medical Campus(US)University of Colorado Denver(US)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Epigenetics and DNA Methylation, Ubiquitin and proteasome pathways, RNA modifications and cancer
Most-Cited Works
- → USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder(2015)201 cited
- → Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder(2017)162 cited
- → Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features(2015)115 cited
- → Succinyl-CoA Ligase Deficiency: A Mitochondrial Hepatoencephalomyopathy(2010)82 cited
- → Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies(2019)75 cited
- → Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome(2018)73 cited