Claudia Gonzaga-Jauregui

基本信息

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职业迁徙

个人简介

I am a human geneticist and genomicist dedicated to the investigation of pathogenic and polymorphic genomic variation, from simple nucleotide variants to large copy-number and structural variation, that contribute to human variation, traits, and disease. I focus on the investigation of rare disorders and Mendelian phenotypes segregating in families through the application of genomic technologies for novel gene discovery, diagnostics, and therapeutic development to enable precision medicine.

研究兴趣

论文共 155 篇作者统计合作学者相似作者

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A Rare Variant in GPR156 Associated with Depression in a Mennonite Pedigree Causes Habenula Hyperactivity and Stress Sensitivity in Mice

Bradley R Miller,Claudia Gonzaga-Jauregui, Karlla W Brigatti, Job de Jong, Robert S Breese, Seung Yeon Ko,Erik G Puffenberger, Cristopher Van Hout, Millie Young,Victor M Luna,Jeffrey Staples,Michael B First, Hilledna J Gregoire,Andrew J Dwork,Evangelos Pefanis,Shane McCarthy,Susannah Brydges, Jose Rojas,Bin Ye, Eli Stahl,Silvio Alessandro Di Gioia,René Hen, Kevin Elwood,Gorazd Rosoklija, Dadong Li, Scott Mellis, David Carey, Susan D Croll, John D Overton,Lynn E Macdonald,Aris N Economides, Alan R Shuldiner,Nao Chuhma, Stephen Rayport,Najaf Amin, Steven A Kushner, Nicole Alessandri-Haber,Sander Markx,Kevin A Strauss

Proceedings of the National Academy of Sciences of the United States of Americano. 16 (2025): e2404754122-e2404754122

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Author’s Response to “correspondence on First Year Result and Insights from the Mexican Rare Disease Patient Registry”

Claudia Gonzaga-Jauregui

Rare (2025): 100075

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Erratum to “first Year Results and Insights from the Mexican Rare Disease Patient Registry” [rare 2 (2024) 100046]

Cesar E. Calvo Aspiros,Claudia Gonzaga-Jauregui

Rare (2025)

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Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson’s Disease

Victor Flores-Ocampo, Amanda Wei-Yin Lim, Natalia S Ogonowski, Luis M García-Marín, Jue-Sheng Ong, Dennis Yeow,Claudia Gonzaga-Jauregui,Kishore R Kumar,Miguel E Rentería

Genesno. 4 (2025)

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