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Claudia Gonzaga-Jauregui

Associate Professor (with Tenure)

National Autonomous University of Mexico

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Professors in Medical Science

Articles (13)

Year:

2026

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2025

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2025

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2025

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2024

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2024

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2024

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2024

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2024

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2023

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2023

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2023

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2023

Collaborators (17)

Teri E. Klein

Professor

Stanford University

UNITED STATES

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Jonathan Berg

Professor

University of North Carolina at Chapel Hill School of Medicine

UNITED STATES

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Mahshid Azamian

Baylor College of Medicine

UNITED STATES

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Cecilia Gunnarsson

MD, Ass Prof

Linköping University

SWEDEN

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Marcel Tawk

INSERM

FRANCE

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Christie M Ballantyne

Baylor College of Medicine

UNITED STATES

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Satadru Lahiri

Assistant Professor

Baylor College of Medicine

UNITED STATES

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Noam Shomron

Academic, Full Professor, Full Professor

Tel Aviv University

ISRAEL

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Miguel E. Rentería

Group Leader, Computational Neurogenomics Lab

QIMR Berghofer Medical Research Institute

AUSTRALIA

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Christina Miyake

Associate Professor

Texas Children's Hospital

UNITED STATES

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Adam Potter

Assistant Professor

UNITED STATES

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Mildred K. Cho

Stanford University

UNITED STATES

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Yuriana Aguilar-Sanchez

Assistant Professor

Texas A&M University

UNITED STATES

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Isabel Tapia-Paez

Karolinska Institutet

SWEDEN

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Seth Baum

Chief Medical Officer

UNITED STATES

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Matt W Wright

Director, Stanford ClinGen

Stanford University

UNITED STATES

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Kishore R. Kumar

University of Sydney

AUSTRALIA

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Claudia Gonzaga-Jauregui

Research Interests

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Articles (13)

Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking

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

Design and implementation of an action plan for justice, equity, diversity, and inclusion within the Clinical Genome Resource

Genome-wide maps of highly-similar intrachromosomal repeats that can mediate ectopic recombination in three human genome assemblies

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

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

Newborn screening in Mexico and Latin America: present and future

ERCAL, a regional initiative for rare diseases in Latin America and the Caribbean

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

Evinacumab in severe hypertriglyceridemia with or without lipoprotein lipase pathway mutations: a phase 2 randomized trial

Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening

Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features

Possible biallelic inheritance in <i>TIE1</i> in a family with congenital lymphedema, intestinal lymphangiectasia and cutis aplasia

Collaborators (17)

Teri E. Klein

Jonathan Berg

Mahshid Azamian

Cecilia Gunnarsson

Marcel Tawk

Christie M Ballantyne

Satadru Lahiri

Noam Shomron

Miguel E. Rentería

Christina Miyake

Adam Potter

Mildred K. Cho

Yuriana Aguilar-Sanchez

Isabel Tapia-Paez

Seth Baum

Matt W Wright

Kishore R. Kumar

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