Claudia Gonzaga-Jauregui

Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 24

Top Venues

Circulation. Genomic and precision medicine

Nature medicine

Genes

Clinical genetics

Regeneron Pharmaceuticals Inc

Baylor College of Medicine (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Regeneron Pharmaceuticals Inc Aug 25 2014

United States

Manager/Senior Manager for Translational Mendelian Genetics :: Regeneron Genetics Center

Duke University Aug 15 2013 - Aug 15 2014

United States

Postdoctoral Associate

Baylor College of Medicine Apr 15 2013 - Jul 31 2013

United States

Postdoctoral Associate :: Molecular and Human Genetics

Education History

Baylor College of Medicine Aug 04 2008 - Apr 15 2013

United States

PHD :: Molecular and Human Genetics

Universidad Nacional Autónoma de México

Mexico

BSC :: Genomic Sciences Undergraduate Program (Licenciatura en Ciencias Genomicas)

Publications

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
Rare Variant in MRC2 Associated With Familial Supraventricular Tachycardia and Wolff-Parkinson-White Syndrome. Circulation. Genomic and precision medicine 17 (4) (2024)
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
Rare Variant in MRC2 Associated With Familial Supraventricular Tachycardia and Wolff-Parkinson-White Syndrome. Circulation. Genomic and precision medicine 17 (4) (2024)
Luis Fernandez-Luna, Carlos Aguilar-Perez, Christopher M Grochowski, Michele Mehaffey, Claudia M B Carvalho, Claudia Gonzaga-Jauregui
Genome-wide maps of highly-similar intrachromosomal repeats that mediate ectopic recombination in three human genome assemblies. bioRxiv : the preprint server for biology (2024)
Jonas A Gustafson, Sophia B Gibson, Nikhita Damaraju, Miranda Perez-Galey Zalusky, Kendra Hoekzema, David Twesigomwe, Lei Yang, Anthony A Snead, Phillip Andrew 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 E Reeves, Adrienne Helland, Rajeeva Lochan Musunuri, Mahler Revsine, Karynne E Patterson, Cate Paschal, Christina Zakarian, Sara Goodwin, Tanner D Jensen, Esther Robb, null null, null null, null null, W Richard McCombie, Fritz J Sedlazeck, Justin M Zook, Stephen B Montgomery, Erik P Garrison, Mikhail Kolmogorov, Michael C Schatz, Richard N McLaughlin, Harriet Dashnow, Michael C Zody, Matthew William Loose, Miten Jain, Evan E Eichler, Danny E Miller
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation. medRxiv : the preprint server for health sciences (2024)
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
Rare Variant in MRC2 Associated With Familial Supraventricular Tachycardia and Wolff-Parkinson-White Syndrome. Circulation. Genomic and precision medicine 17 (4) (2024)
Jonas A Gustafson, Sophia B Gibson, Nikhita Damaraju, Miranda Perez-Galey Zalusky, Kendra Hoekzema, David Twesigomwe, Lei Yang, Anthony A Snead, Phillip Andrew 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 E Reeves, Adrienne Helland, Rajeeva Lochan Musunuri, Mahler Revsine, Karynne E Patterson, Cate R Paschal, Christina Zakarian, Sara Goodwin, Tanner D Jensen, Esther Robb, null null, null null, null null, W Richard McCombie, Fritz J Sedlazeck, Justin M Zook, Stephen B Montgomery, Erik P Garrison, Mikhail Kolmogorov, Michael C Schatz, Richard N McLaughlin, Harriet Dashnow, Michael C Zody, Matthew William Loose, Miten Jain, Evan E Eichler, Danny E Miller
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation. medRxiv : the preprint server for health sciences (2024)
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
Rare Variant in MRC2 Associated With Familial Supraventricular Tachycardia and Wolff-Parkinson-White Syndrome. Circulation. Genomic and precision medicine (2024)
Robert S Rosenson, Daniel Gaudet, Christie M Ballantyne, Seth J Baum, Jean Bergeron, Erin E Kershaw, Patrick M Moriarty, Paolo Rubba, David C Whitcomb, Poulabi Banerjee, Andrew Gewitz, Claudia Gonzaga-Jauregui, Jennifer McGinniss, Manish P Ponda, Robert Pordy, Jian Zhao, Daniel James Rader
Evinacumab in severe hypertriglyceridemia with or without lipoprotein lipase pathway mutations: a phase 2 randomized trial. Nature medicine 29 (3) (2023)
Robert S Rosenson, Daniel Gaudet, Christie M Ballantyne, Seth J Baum, Jean Bergeron, Erin E Kershaw, Patrick M Moriarty, Paolo Rubba, David C Whitcomb, Poulabi Banerjee, Andrew Gewitz, Claudia Gonzaga-Jauregui, Jennifer McGinniss, Manish P Ponda, Robert Pordy, Jian Zhao, Daniel James Rader
Evinacumab in severe hypertriglyceridemia with or without lipoprotein lipase pathway mutations: a phase 2 randomized trial. Nature medicine (2023)
Eden Avnat, Guy Shapira, Shelly Shoval, Ifat Israel-Elgali, Anna Alkelai, Alan R Shuldiner, Claudia Gonzaga-Jauregui, Jamal Zidan, Taiseer Maray, Noam Shomron, Eitan Friedman
Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening. Genes 14 (4) (2023)
Eden Avnat, Guy Shapira, Shelly Shoval, Ifat Israel-Elgali, Anna Alkelai, Alan R Shuldiner, Claudia Gonzaga-Jauregui, Jamal Zidan, Taiseer Maray, Noam Shomron, Eitan Friedman
Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening. Genes 14 (4) (2023)
Eden Avnat, Guy Shapira, Shelly Shoval, Ifat Israel-Elgali, Anna Alkelai, Alan R Shuldiner, Claudia Gonzaga-Jauregui, Jamal Zidan, Taiseer Maray, Noam Shomron, Eitan Friedman
Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening. Genes 14 (4) (2023)
Aasem Abu Shtaya, Rivka Sukenik Halevy, Lily Bazak, Gabriel Arie Lidzbarsky, Claudia Gonzaga-Jauregui, Irina Lagovsky, Yael Goldberg, Lina Basel-Salmon
Possible biallelic inheritance in TIE1 in a family with congenital lymphedema, intestinal lymphangiectasia and cutis aplasia. Clinical genetics (2023)
Aasem Abu Shtaya, Rivka Sukenik Halevy, Lily Bazak, Gabriel Arie Lidzbarsky, Claudia Gonzaga-Jauregui, Irina Lagovsky, Yael Goldberg, Lina Basel-Salmon
Possible biallelic inheritance in TIE1 in a family with congenital lymphedema, intestinal lymphangiectasia and cutis aplasia. Clinical genetics (2023)
Aasem Abu Shtaya, Rivka Sukenik Halevy, Lily Bazak, Gabriel Arie Lidzbarsky, Claudia Gonzaga-Jauregui, Irina Lagovsky, Yael Goldberg, Lina Basel-Salmon
Possible biallelic inheritance in TIE1 in a family with congenital lymphedema, intestinal lymphangiectasia and cutis aplasia. Clinical genetics (2023)
Robert S Rosenson, Daniel Gaudet, Christie M Ballantyne, Seth J Baum, Jean Bergeron, Erin E Kershaw, Patrick M Moriarty, Paolo Rubba, David C Whitcomb, Poulabi Banerjee, Andrew Gewitz, Claudia Gonzaga-Jauregui, Jennifer McGinniss, Manish P Ponda, Robert Pordy, Jian Zhao, Daniel James Rader
Evinacumab in severe hypertriglyceridemia with or without lipoprotein lipase pathway mutations: a phase 2 randomized trial. Nature medicine 29 (3) (2023)
Robert S Rosenson, Daniel Gaudet, Christie M Ballantyne, Seth J Baum, Jean Bergeron, Erin E Kershaw, Patrick M Moriarty, Paolo Rubba, David C Whitcomb, Poulabi Banerjee, Andrew Gewitz, Claudia Gonzaga-Jauregui, Jennifer McGinniss, Manish P Ponda, Robert Pordy, Jian Zhao, Daniel James Rader
Evinacumab in severe hypertriglyceridemia with or without lipoprotein lipase pathway mutations: a phase 2 randomized trial. Nature medicine 29 (3) (2023)
Eden Avnat, Guy Shapira, Shelly Shoval, Ifat Israel-Elgali, Anna Alkelai, Alan R Shuldiner, Claudia Gonzaga-Jauregui, Jamal Zidan, Taiseer Maray, Noam Shomron, Eitan Friedman
Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening. Genes 14 (4) (2023)
Dong Li, Qin Wang, Naihua N Gong, Alina Kurolap, Hagit Baris Feldman, Nikolas Boy, Melanie Brugger, Katheryn Lynn Grand, Kirsty McWalter, Maria J Guillen Sacoto, Emma L Wakeling, Jane Hurst, Michael E March, Elizabeth Joyce Bhoj, Małgorzata J M Nowaczyk, Claudia Gonzaga-Jauregui, Mariam Mathew, Ashita Dava-Wala, Amy Siemon, Dennis Bartholomew, Yue Huang, Hane Lee, Julian A Martinez, Eva Maria Christina Schwaibold, Theresa Brunet, Daniela Choukair, Lynn S Pais, Susan M White, John Chrisodoulou, Dana Brown, Kristin Lindstrom, Theresa Grebe, Dov Tiosano, Matthew S Kayser, Tiong Yang Tan, Matthew A Deardorff, Yuanquan Song, Hakon H Hakonarson
Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features. Science advances 7 (20) (2021)
Claudia Gonzaga-Jauregui, Gozde Yesil, Harikiran Nistala, Alper Gezdirici, Yavuz Bayram, Kalyan C Nannuru, Davut Pehlivan, Bo Yuan, Johanna Jimenez, Yavuz Sahin, Ingrid S Paine, Zeynep Coban Akdemir, Saathyaki Rajamani, Jeffrey Staples, John Dronzek, Kristen Howell, Jawid M Fatih, Silvia Smaldone, Alan E Schlesinger, Norman Ramírez, Alberto S Cornier, Melissa A Kelly, Robert Haber, Shek Man Chim, Kristy Nieman, Nan Wu, Johnathon Walls, null null, William Poueymirou, Chia-Jen Siao, V Reid Sutton, Marc S Williams, Jennifer E Posey, Richard A Gibbs, Simon Carlo, David H Tegay, Aris N Economides, James R Lupski
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. European journal of human genetics : EJHG 28 (9) (2020)
Hadia Hijazi, Fernanda S Coelho, Claudia Gonzaga-Jauregui, Laura Bernardini, Soe S Mar, Melanie A Manning, Andrea Hanson-Kahn, SakkuBai Naidu, Siddharth Srivastava, Jennifer A Lee, Julie R Jones, Michael J Friez, Thomas Alberico, Barbara Torres, Ping Fang, Sau Wai Cheung, Xiaofei Song, Angelique Davis-Williams, Carly Jornlin, Patricia A Wight, Pankaj Patyal, Jennifer Taube, Andrea Poretti, Ken Inoue, Feng Zhang, Davut Pehlivan, Cláudia M B Carvalho, Grace M Hobson, James R. Lupski
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome. Human mutation 41 (1) (2019)
Claudia Gonzaga-Jauregui, Wenzhen Ge, Jeffrey Staples, Cristopher Van Hout, Ashish Yadav, Ryan Colonie, Joseph B Leader, H Lester Kirchner, Michael F Murray, Jeffrey G Reid, David J Carey, John D Overton, Alan R Shuldiner, Omri Gottesman, Steve Gao, Jesper Gromada, Aris Baras, Judith Altarejos, null null
Clinical and Molecular Prevalence of Lipodystrophy in an Unascertained Large Clinical Care Cohort. Diabetes 69 (2) (2019)
Tova Hershkovitz, Alina Kurolap, Claudia Gonzaga-Jauregui, Tamar Paperna, Adi Mory, Sarah E Wolf, null null, John D Overton, Alan R Shuldiner, Ann Saada, Hanna Mandel, Hagit Baris Feldman
A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4. Journal of human genetics 64 (6) (2019)
Renee Bend, Lior Cohen, Melissa T Carter, Michael J Lyons, Dmitriy Niyazov, Mohamad A Mikati, Samantha K Rojas, Richard E Person, Yue Si, Ingrid M Wentzensen, null null, Erin Torti, Jennifer A Lee, Kym M Boycott, Lina Basel-Salmon, Carlos R Ferreira, Claudia Gonzaga-Jauregui
Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities. European journal of human genetics : EJHG 28 (1) (2019)

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Publication Activity (10 Years)

Top Topics

Top Venues

Claudia Gonzaga-Jauregui