Hugo Vega

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

Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells

Jinglan Liu, Zhe Zhang, Masashige Bando et al. · PLoS Biology · 2009 · 227 citations · Full text

Chromatin, Transcriptional Regulation, Developmental Biology +13

Glycosylation, Hypogammaglobulinemia, and Resistance to Viral Infections

Mohammed Sadat, Susan Moir, Tae‐Wook Chun et al. · New England Journal of Medicine · 2014 · 141 citations · Full text

Histocompatibility, Immunodeficiencies, Immunology +20

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

Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity

David R. Adams, Hongjie Yuan, Todd Holyoak et al. · Molecular Genetics and Metabolism · 2014 · 65 citations · Full text

Rare Diseases, Mendelian Disorder, Disease Mechanism +14