Claudia Gonzaga-Jauregui

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Bio

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.

Research Interests

Papers共 155 篇Author StatisticsCo-AuthorSimilar Experts

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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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Genome-wide Maps of Highly-Similar Intrachromosomal Repeats That Can Mediate Ectopic Recombination in Three Human Genome Assemblies

Luis Fernandez-Luna, Carlos Aguilar-Perez,Christopher M. Grochowski,Michele G. Mehaffey,Claudia M. B. Carvalho,Claudia Gonzaga-Jauregui

HUMAN GENETICS AND GENOMICS ADVANCESno. 2 (2025)

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Nanopore Sequencing of 1000 Genomes Project Samples to Build a Comprehensive Catalog of Human Genetic Variation

Jonas A Gustafson,Sophia B Gibson,Nikhita Damaraju,Miranda Pg Zalusky,Kendra Hoekzema,David Twesigomwe,Lei Yang,Anthony A Snead, Phillip A Richmond,Wouter De Coster,Nathan D Olson,Andrea Guarracino, Qiuhui Li,Angela L Miller,Joy Goffena, Zachery Anderson, Sophie Hr Storz, Sydney A Ward, Maisha Sinha,Claudia Gonzaga-Jauregui,Wayne E Clarke,Anna O Basile,André Corvelo,Catherine Reeves,Adrienne Helland,Rajeeva Lochan Musunuri, Mahler Revsine,Karynne E Patterson,Cate R Paschal, Christina Zakarian,Sara Goodwin,Tanner D Jensen, Esther Robb, Genomes ONT Sequencing Consortium, University of Washington Center for Rare Disease Research (UW-CRDR), Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium,W Richard McCombie,Fritz J Sedlazeck,Justin M Zook,Stephen B Montgomery,Erik Garrison,Mikhail Kolmogorov,Michael C Schatz,Richard N McLaughlin,Harriet Dashnow,Michael C Zody,Matt Loose,Miten Jain,Evan E Eichler,Danny E Miller

medRxiv the preprint server for health sciences (2024)

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Rare Variant in MRC2 Associated with Familial Supraventricular Tachycardia and Wolff-Parkinson-White Syndrome

Adam S. Potter,Christina Y. Miyake,Claudia Gonzaga-Jauregui,Yuriana Aguilar-Sanchez,Mohit M. Hulsurkar,Satadru K. Lahiri,Lucia M. Moreira,Neelam Mehta,Mahshid S. Azamian,James R. Lupski,Svetlana Reilly,Seema R. Lalani,Xander H. T. Wehrens

Circulation Genomic and Precision Medicine（2024）

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High-coverage Nanopore Sequencing of Samples from the 1000 Genomes Project to Build a Comprehensive Catalog of Human Genetic Variation

Jonas A. Gustafson,Sophia B. Gibson,Nikhita Damaraju,Miranda P. G. Zalusky,Kendra Hoekzema,David Twesigomwe, Lei Yang,Anthony A. Snead, Phillip A. Richmond,Wouter De Coster,Nathan D. Olson,Andrea Guarracino, Qiuhui Li,Angela L. Miller,Joy Goffena, Zachary B. Anderson, Sophie H. R. Storz, Sydney A. Ward, Maisha Sinha,Claudia Gonzaga-Jauregui,Wayne E. Clarke,Anna O. Basile,Andre Corvelo,Catherine Reeves,Adrienne Helland,Rajeeva Lochan Musunuri, Mahler Revsine,Karynne E. Patterson,Cate R. Paschal, Christina Zakarian,Sara Goodwin,Tanner D. Jensen, Esther Robb,William Richard McCombie,Fritz J. Sedlazeck,Justin M. Zook,Stephen B. Montgomery,Erik Garrison,Mikhail Kolmogorov,Michael C. Schatz,Richard N. McLaughlin Jr,Harriet Dashnow,Michael C. Zody,Matt Loose,Miten Jain,Evan E. Eichler,Danny E. Miller

GENOME RESEARCHno. 11 (2024): 2061-2073

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Identification of Novel Genetic Risk Variants Associated with Hidradenitis Suppurativa in an Exome Sequencing Cohort of 92,455 Individuals

Raghu P. Metpally,Sangeetha Vishweswaraiah,Sarathbabu Krishnamurthy,Nazia Saiyed,Richard C. Stahl,Alicia Golden, Andrew Denisenko,Jeffrey Staples,Claudia Gonzaga-Jauregui,David J. Carey,Falk Bechara,Gregor B. E. Jemec,Heinric Williams,Uppala Radhakrishna

DERMATOLOGY (2024)

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Assistant Professor

Papers共 155 篇Author StatisticsCo-AuthorSimilar Experts