Publications
Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly. JAMA Neurol. 2013 ;70(12):1491-8.
. Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2013 ;54(6):4158-66.
. Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron. 2013 ;77(2):235-42.
. Seafood consumption and blood mercury concentrations in Jamaican children with and without autism spectrum disorders. Neurotox Res. 2013 ;23(1):22-38.
. TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Am J Hum Genet. 2013 ;93(2):197-210.
. . Analysis of prostate-specific antigen transcripts in chimpanzees, cynomolgus monkeys, baboons, and African green monkeys. PLoS One. 2014 ;9(4):e94522.
. Analysis of the ABCA4 genomic locus in Stargardt disease. Hum Mol Genet. 2014 ;23(25):6797-806.
. Association of levels of fasting glucose and insulin with rare variants at the chromosome 11p11.2-MADD locus: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. Circ Cardiovasc Genet. 2014 ;7(3):374-382.
. Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks. Am J Hum Genet. 2014 ;94(2):223-32.
. Associations of NINJ2 sequence variants with incident ischemic stroke in the Cohorts for Heart and Aging in Genomic Epidemiology (CHARGE) consortium. PLoS One. 2014 ;9(6):e99798.
. Blood lead concentrations in Jamaican children with and without autism spectrum disorder. Int J Environ Res Public Health. 2014 ;12(1):83-105.
. Comparative validation of the D. melanogaster modENCODE transcriptome annotation. Genome Res. 2014 ;24(7):1209-23.
. De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. 2014 ;94(5):784-9.
. Design and anticipated outcomes of the eMERGE-PGx project: a multicenter pilot for preemptive pharmacogenomics in electronic health record systems. Clin Pharmacol Ther. 2014 ;96(4):482-9.
. The effect of dietary fat intake on hepatic gene expression in LG/J AND SM/J mice. BMC Genomics. 2014 ;15:99.
. Epigenomic profiling of young and aged HSCs reveals concerted changes during aging that reinforce self-renewal. Cell Stem Cell. 2014 ;14(5):673-88.
. Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis. J Clin Endocrinol Metab. 2014 ;99(11):E2451-6.
. Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. Genet Med. 2014 ;16(5):386-394.
. Fibular aplasia, tibial campomelia, and oligosyndactyly: a further patient with a 2-year follow-up. Clin Dysmorphol. 2014 ;23(4):121-6.
. The first myriapod genome sequence reveals conservative arthropod gene content and genome organisation in the centipede Strigamia maritima. PLoS Biol. 2014 ;12(11):e1002005.
. Following-up genome-wide association study signals: lessons learned from Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. Circ Cardiovasc Genet. 2014 ;7(3):332-4.
. A framework for the interpretation of de novo mutation in human disease. Nat Genet. 2014 ;46(9):944-50.
. Further evidence for phenotypic signatures of hybridization in descendant baboon populations. J Hum Evol. 2014 ;76:54-62.
. Genetic and clinical analysis of ABCA4-associated disease in African American patients. Hum Mutat. 2014 ;35(10):1187-94.
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