1. Multiple rare alleles contribute to low plasma levels of HDL cholesterol;JC Cohen;Science (80-),2004
2. Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network;N Chassaing;Genome Res,2016
3. De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects;JR Priest;PLoS Genet,2016
4. Systematic functional testing of rare variants: Contributions of CFI to age-related macular degeneration;PL Tan;Investig Ophthalmol Vis Sci,2017
5. Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes Broad GO, Seattle GO, on behalf of the NHLBI Exome Sequencing Project;JA Tennessen;Science (80-),2012