Concepedia

Hugo Vega

HV

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Publications

9

Citations

1.1K

H-Index

9

Active since

1997

Affiliations

Tokyo Institute of Technology(Current)

National Human Genome Research Institute

Johns Hopkins University

Children's Hospital of Philadelphia

The University of Osaka

Hugo Vega is an author at Tokyo Institute of Technology specializing in genetic disorders, life sciences, and genetics.

ORCID

Publications per year

1997–2017

9

Publications

9

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 · 385 citations

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Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells

Jinglan Liu, Zhe Zhang, Masashige Bando et al. · PLoS Biology · 2009 · 231 citations · Full text

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Glycosylation, Hypogammaglobulinemia, and Resistance to Viral Infections

Mohammed Sadat, Susan Moir, Tae‐Wook Chun et al. · New England Journal of Medicine · 2014 · 145 citations · Full text

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

Miriam Gordillo, Hugo Vega, Alison Trainer et al. · Human Molecular Genetics · 2008 · 130 citations · Full text

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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

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