Publications by authors named "Richard S Rodriguez"

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Clinical genome sequencing in patients with suspected rare genetic disease in Peru.
Jeny Bazalar-Montoya, Mario Cornejo-Olivas, Milagros M Duenas-Roque, Nelson Purizaca-Rosillo, Richard S Rodriguez

NPJ Genom Med· October 2024

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The impact of clinical genome sequencing in a global population with suspected rare genetic disease.
Erin Thorpe, Taylor Williams, Chad Shaw, Evgenii Chekalin, Julia Ortega, Richard S Rodriguez

Am J Hum Genet· July 2024

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Novel Compound Heterozygous Mutation c.3955_3958dup and c.5825C>T in the Gene: Clinical Evidence of Ataxia-Telangiectasia and Cancer in a Peruvian Family.
Richard S Rodriguez, Mario Cornejo-Olivas, Jeny Bazalar-Montoya, Elison Sarapura-Castro, Mariela Torres-Loarte

Mol Syndromol· August 2021

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