Hugo Vega

ORCID：0000-0002-6072-8461

发表论文 24 篇 · 总被引 1136 次 · h-index 10

代表论文

• Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion (2005 · Nature Genetics · 被引 387)
• Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells (2009 · PLoS Biology · 被引 234)
• Glycosylation, Hypogammaglobulinemia, and Resistance to Viral Infections (2014 · New England Journal of Medicine · 被引 146)
• The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity (2008 · Human Molecular Genetics · 被引 130)
• Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity (2014 · Molecular Genetics and Metabolism · 被引 66)
• ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13 (2017 · PLoS Genetics · 被引 64)