Publications
Serum sphingolipids and incident diabetes in a US population with high diabetes burden: the Hispanic Community Health Study/Study of Latinos (HCHS/SOL). Am J Clin Nutr 112, 57-65 (2020).
Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network. Mol Genet Genomic Med 8, e1397 (2020).
Practices and policies of clinical exome sequencing providers: analysis and implications. Am J Med Genet A 161A, 935-50 (2013).
Next generation analytic tools for large scale genetic epidemiology studies of complex diseases. Genet Epidemiol 36, 22-35 (2012).
Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med 21, 798-812 (2019).
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. J Hum Genet 62, 243-252 (2017).
Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis. Cardiovasc Res 113, 102-111 (2017).
Association Between Absolute Neutrophil Count and Variation at TCIRG1: The NHLBI Exome Sequencing Project. Genet Epidemiol 40, 470-4 (2016).
Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome. Hypertension 71, 691-699 (2018).