Publications
The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities. Commun Biol. 2024 ;7(1):174.
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Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity. Nat Commun. 2019 ;10(1):376.
. . Exome sequencing reveals novel genetic loci influencing obesity-related traits in Hispanic children. Obesity (Silver Spring). 2017 ;25(7):1270-1276.
. Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands. Sci Rep. 2016 ;6:32792.
. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. Am J Hum Genet. 2016 ;98(2):347-57.
. Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population. Eur J Hum Genet. 2015 ;23(3):342-6.
. New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. JAMA Ophthalmol. 2015 ;133(2):133-9.
. Dissociation between APOC3 variants, hepatic triglyceride content and insulin resistance. Hepatology. 2011 ;53(2):467-74.
. The hypofunctional effect of P335L single nucleotide polymorphism on SSTR5 function. World J Surg. 2011 ;35(8):1715-24.
. Resequencing of IRS2 reveals rare variants for obesity but not fasting glucose homeostasis in Hispanic children. Physiol Genomics. 2011 ;43(18):1029-37.
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A genomewide admixture map for Latino populations. Am J Hum Genet. 2007 ;80(6):1024-36.
. Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL. Nat Genet. 2007 ;39(4):513-6.
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