Miriam Gordillo

Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion

Hugo Vega, Quinten Waisfisz, Miriam Gordillo et al. · Nature Genetics · 2005 · 384 citations

Genome Instability, Sister Chromatid Cohesion, Disease Mechanism +12

Colonic organoids derived from human induced pluripotent stem cells for modeling colorectal cancer and drug testing

Miguel Crespo, Eduardo Vilar, Su‐Yi Tsai et al. · Nature Medicine · 2017 · 375 citations · Full text

Induced Pluripotent Stem Cell, Pluripotent Stem Cells, Medicine +12

Genome-scale screens identify JNK–JUN signaling as a barrier for pluripotency exit and endoderm differentiation

Qing V. Li, Gary Dixon, Nipun Verma et al. · Nature Genetics · 2019 · 139 citations

Genome-scale Screens, Transcriptional Regulation, Induced Pluripotent Stem Cell +13

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity

Miriam Gordillo, Hugo Vega, Alison Trainer et al. · Human Molecular Genetics · 2008 · 128 citations · Full text

Genetics, Genomic Mechanism, Pathology +23

Phenotypic variability in 49 cases of <i>ESCO2</i> mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with <i>ESCO2</i> expression and establishes the clinical criteria for Roberts syndrome

Horacio Astudillo‐de la Vega, Alison Trainer, Miriam Gordillo et al. · Journal of Medical Genetics · 2009 · 107 citations · Full text