Publications
Identification of a novel tumor suppressor gene p34 on human chromosome 6q25.1. Cancer Res. 2007 ;67(1):93-9.
. Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. Proc Natl Acad Sci U S A. 1989 ;86(6):1919-23.
. Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles. Am J Hum Genet. 2018 ;103(2):171-187.
. In silico genetics: identification of a functional element regulating H2-Ealpha gene expression. Science. 2004 ;306(5696):690-5.
. The INSIG2 rs7566605 genetic variant does not play a major role in obesity in a sample of 24,722 individuals from four cohorts. BMC Med Genet. 2009 ;10:56.
. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012 ;491(7422):56-65.
. Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination. Am J Hum Genet. 2016 ;99(2):470-80.
. Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance. Hum Mutat. 2017 ;38(11):1521-1533.
. Lipoprotein associated phospholipase A2 activity, apolipoprotein C3 loss-of-function variants and cardiovascular disease: The Atherosclerosis Risk In Communities Study. Atherosclerosis. 2015 ;241(2):641-8.
. Major Impacts of Widespread Structural Variation on Gene Expression and Crop Improvement in Tomato. Cell. 2020 ;182(1):145-161.e23.
. Mapping and characterization of structural variation in 17,795 human genomes. Nature. 2020 ;583(7814):83-89.
. Mapping and genome sequence analysis of chromosome 5 regions involved in bladder cancer progression. Lab Invest. 2001 ;81(7):1039-48.
. Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication. Am J Hum Genet. 2014 ;94(3):462-9.
. Mendelian randomization evaluation of causal effects of fibrinogen on incident coronary heart disease. PLoS One. 2019 ;14(5):e0216222.
. Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. Am J Hum Genet. 2014 ;94(6):915-23.
. Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. Am J Hum Genet. 2016 ;98(3):562-570.
. Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses. Hum Mutat. 2016 ;37(3):231-234.
. MuSE: accounting for tumor heterogeneity using a sample-specific error model improves sensitivity and specificity in mutation calling from sequencing data. Genome Biol. 2016 ;17(1):178.
. The mutA mistranslator tRNA-induced mutator phenotype requires recA and recB genes, but not the derepression of lexA-regulated functions. Mol Microbiol. 1999 ;32(3):607-15.
. Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa. Am J Hum Genet. 2016 ;99(6):1305-1315.
. Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements. Hum Genet. 2014 ;133(3):331-45.
. Next-generation sequencing identifies rare variants associated with Noonan syndrome. Proc Natl Acad Sci U S A. 2014 ;111(31):11473-8.
. Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands. Sci Rep. 2016 ;6:32792.
. NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity. Hum Mol Genet. 2021 ;29(21):3516-3531.
. NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype. Exp Eye Res. 2018 ;173:32-43.
.