1. Common and rare genetic effects on the transcriptome and their contribution to human traits Einson, Jonah 2022 Theses BioinformaticsHuman genetics--VariationBiology--ClassificationHuman genomeGenetic regulation
2. A polyclonal allelic expression assay for detecting regulatory effects of transcript variants Brandt, Margot; Gokden, Alper; Ziosi, Marcello; Lappalainen, Tuuli 2020 Articles Human genetics--VariationHuman genomeRare diseasesHuman gene mapping
3. Characterizing human regulatory genetic variation using CRISPR/Cas9 genome editing Brandt, Margot 2020 Theses GeneticsHuman genetics--VariationCRISPR (Genetics)Medical geneticsGene editing
4. Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome Depienne, Christel; Ciura, Sorana; Trouillard, Oriane; Bouteiller, Delphine; Leitão, Elsa; Nava, Caroline; Keren, Boris; Marie, Yannick; Guegan, Justine; Forlani, Sylvie; Brice, Alexis; Anheim, Mathieu; Agid, Yves; Krack, Paul; Damier, Philippe; Viallet, François; Houeto, Jean-Luc; Durif, Franck; Vidailhet, Marie; Worbe, Yulia; Roze, Emmanuel; Kabashi, Edor; Hartmann, Andreas 2019 Articles Tourette syndromeMedical geneticsHuman genetics--VariationOpioids--ReceptorsDisease susceptibilityZebra danio
5. Genetic Mechanisms of Regulated Stochastic Gene Expression Horta, Adan 2019 Theses NeurosciencesBiochemistryGeneticsOlfactory receptor genesGene expressionCadherinsHuman genetics--Variation
6. Naming Genes for Dystonia: DYT-z or Ditzy? Mencacci, Niccolo E.; Jinnah, H. A. 2019 Articles DystoniaHuman chromosomes--NomenclatureHuman genetics--VariationMovement disordersNeurology
7. Quantitative trait variation and adaptation in contemporary humans Mostafavi, Hakhamanesh 2019 Theses BiologyGeneticsHuman evolutionGenomes--Data processingHuman genetics--VariationMortality
8. Discovery of genetic variants of the kinases that activate tenofovir among individuals in the United States, Thailand, and South Africa: HPTN067 Figueroa, Dominique B.; Tillotson, Joseph; Li, Maoji; Piwowar-Manning, Estelle; Hendrix, Craig W.; Holtz, Timothy H.; Bokoch, Kevin; Bekker, Linda-Gail; van Griensven, Frits; Mannheimer, Sharon B.; Hughes, James P.; Grant, Robert M.; Bumpus, Namandje N. 2018 Articles PhosphorylationAntiviral agentsHuman genetics--VariationBiometryMedicine
9. Effects of Serotonin Transporter Gene Variation on Impulsivity Mediated by Default Mode Network: A Family Study of Depression Cha, Jiook; Guffanti, Guia; Gingrich, Jay A.; Talati, Ardesheer; Wickramaratne, Priya J.; Weissman, Myrna M.; Posner, Jonathan Eric 2018 Articles Serotoninergic mechanismsImpulse control disordersBrain--PhysiologyGeneticsHuman genetics--Variation
10. Genetic variants influence on the placenta regulatory landscape Delahaye, Fabien; Do, Catherine; Kong, Yu; Ashkar, Remi; Salas, Martha; Tycko, Benjamin; Wapner, Ronald J.; Hughes, Francine 2018 Articles PlacentaHuman genetics--VariationGeneticsDNA--Methylation
11. The generation and phenotypic effect of human genetic mutations Chen, Chen 2018 Theses BioinformaticsComputer scienceMutation (Biology)Human genetics--VariationMachine learning
12. Statistical correction of the Winner’s Curse explains replication variability in quantitative trait genome-wide association studies Palmer, Cameron Douglas; Pe'er, Itshack G. 2017 Articles DNA replicationGenomes--Data processingHuman genetics--VariationGeneticsStatistics
13. On Identifying Rare Variants for Complex Human Traits Fan, Ruixue 2015 Theses Regression analysisGenetics--Statistical methodsGenomics--Data processingHuman genetics--VariationStatisticsBioinformatics
14. Comparing the power of family-based association tests for sequence data with applications in the GAW18 simulated data Huang, Jing; Chen, Yong; Swartz, Michael; Ionita-Laza, Iuliana 2014 Articles Human genetics--VariationBiometryGenetics
15. Identification of Rare Causal Variants in Sequence-Based Studies: Methods and Applications to VPS13B, a Gene Involved in Cohen Syndrome and Autism Ionita-Laza, Iuliana; Capanu, Marinela; De Rubeis, Silvia; McCallum, Kenneth; Buxbaum, Joseph D. 2014 Articles Genetic disordersHuman genetics--VariationAutismGeneticsBiometry
16. Small sample properties of rare variant analysis methods Swartz, Michael; Kim, Taebeom; Niu, Jiangong; Yu, Robert; Shete, Sanjay; Ionita-Laza, Iuliana 2014 Articles Human genetics--VariationBiometryGenetics
17. New insights into old methods for identifying causal rare variants Hu, Inchi; Zheng, Tian; Huang, Chien-Hsun; Lo, Shaw-Hwa; Wang, Haitian 2011 Articles Human genetics--VariationBiometry--Statistical methodsStatistics--MethodologyBiometryStatistics
18. ChIP-on-chip significance analysis reveals ubiquitous transcription factor binding Margolin, Adam; Palomero Vazquez, M. Teresa; Ferrando, Adolfo A.; Califano, Andrea; Stolovitzky, Gustavo 2007 Articles BioinformaticsGene regulatory networksHuman genetics--VariationGeneticsBiology