Claudia Gonzaga-Jauregui
16PUBLICATIONS
180CO-AUTHORS
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Publications (16)
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|Jan 23, 2026
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.Kevin Uguen, Tiffany Bergot, Marie-Pier Scott-Boyer
|Apr 26, 2025
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.Victor Flores-Ocampo, Amanda Wei-Yin Lim, Natalia S Ogonowski
|Oct 21, 2024
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.Angelica Maria Delgado-Vega, Helene Cederroth, Fulya Taylan
|Oct 02, 2024
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
|Jul 02, 2024
Rare Variant in MRC2 Associated With Familial Supraventricular Tachycardia and Wolff-Parkinson-White Syndrome.Adam S Potter, Christina Y Miyake, Claudia Gonzaga-Jauregui
|Mar 18, 2024
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation.Jonas A Gustafson, Sophia B Gibson, Nikhita Damaraju
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Frequent Collaborators
3 joint publications
James R Lupski
2 joint publications
David Twesigomwe
2 joint publications
Jennifer A Lee
2 joint publications
Nikhita Damaraju
2 joint publications
Jonas A Gustafson
2 joint publications
Kendra Hoekzema
2 joint publications
Miranda Pg Zalusky
2 joint publications
Sophia B Gibson
2 joint publications
Theresa Brunet
2 joint publications
Dong Li
