1. 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
2. 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
3. Naming Genes for Dystonia: DYT-z or Ditzy? Mencacci, Niccolo E.; Jinnah, H. A. 2019 Articles DystoniaHuman chromosomes--NomenclatureHuman genetics--VariationMovement disordersNeurology
4. 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
5. 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
6. 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
7. 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
8. 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
9. 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
10. 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