Publications
Relation of PCSK9 mutations to serum low-density lipoprotein cholesterol in childhood and adulthood (from The Bogalusa Heart Study). Am J Cardiol. 2007 ;100(1):69-72.
. Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk. Circ Cardiovasc Genet. 2016 ;9(1):64-70.
. Response to Biesecker et al. Am J Hum Genet. 2021 ;108(9):1807-1808.
. .
Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes. Am J Hum Genet. 2022 ;109(1):81-96.
. Rare coding variants in RCN3 are associated with blood pressure. BMC Genomics. 2022 ;23(1):148.
. Rare Variants in Genes Encoding Subunits of the Epithelial Na Channel Are Associated With Blood Pressure and Kidney Function. Hypertension. 2022 ;79(11):2573-2582.
. Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk. Circ Cardiovasc Genet. 2016 ;9(1):64-70.
. Regional association-based fine-mapping for sodium-lithium countertransport on chromosome 10. Am J Hypertens. 2008 ;21(1):117-21.
. Reproducibility and Variability of Protein Analytes Measured Using a Multiplexed Modified Aptamer Assay. J Appl Lab Med. 2019 ;4(1):30-39.
. .
Rare and low-frequency coding variants alter human adult height. Nature. 2017 ;542(7640):186-190.
. .
Replication of long-bone length QTL in the F9-F10 LG,SM advanced intercross. Mamm Genome. 2009 ;20(4):224-35.
. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. Am J Hum Genet. 2017 ;100(2):343-351.
. .
Response. J Natl Cancer Inst. 2015 ;107(8).
. Rho Guanine Nucleotide Exchange Factor Is a Risk Gene for Intracranial Aneurysms. Circ Genom Precis Med. 2018 ;11(7):e002099.
. Recurrent BCAM-AKT2 fusion gene leads to a constitutively activated AKT2 fusion kinase in high-grade serous ovarian carcinoma. Proc Natl Acad Sci U S A. 2015 ;112(11):E1272-7.
. Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia. Pediatr Blood Cancer. 2017 ;64(5).
. Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet. 2016 ;99(4):831-845.
. .
The Return of Actionable Variants Empirical (RAVE) Study, a Mayo Clinic Genomic Medicine Implementation Study: Design and Initial Results. Mayo Clin Proc. 2018 ;93(11):1600-1610.
. .
.