1. Molecular and genetic effect of coding variants in human Zhao, Yige 2024 Theses GeneticsHuman genetics--VariationBioinformaticsHuman genomeAllelomorphismMachine learningAutism--Research
2. Genetic Variant Effects on Transcription Factor Regulation Li, Xiaoting 2023 Theses BiologyHuman genetics--VariationDiseases--Risk factorsHuman genomeGenomicsGenetic transcriptionGene expression
3. Common and rare genetic effects on the transcriptome and their contribution to human traits Einson, Jonah 2022 Theses BioinformaticsHuman genetics--VariationBiology--ClassificationHuman genomeGenetic regulation
4. Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment Morra, Anna; Escala-Garcia, Maria; Beesley, Jonathan; Keeman, Renske; Canisius, Sander; Ahearn, Thomas U.; Andrulis, Irene L.; Anton-Culver, Hoda; Arndt, Volker; Auer, Paul L.; Augustinsson, Annelie; Beane Freeman, Laura E.; Becher, Heiko; Beckmann, Matthias W.; Behrens, Sabine; Bojesen, Stig E.; Bolla, Manjeet K.; Brenner, Hermann; Brüning, Thomas; Buys, Saundra S.; Caan, Bette; Campa, Daniele; Canzian, Federico; Castelao, Jose E.; Chang-Claude, Jenny; Chanock, Stephen J.; Cheng, Ting-Yuan D.; Clarke, Christine L.; Colonna, Sarah V.; Couch, Fergus J.; Cox, Angela; Cross, Simon S.; Czene, Kamila; Daly, Mary B.; Dennis, Joe; Dörk, Thilo; Dossus, Laure; Dunning, Alison M.; Dwek, Miriam; Eccles, Diana M.; Ekici, Arif B.; Eliassen, A. H.; Eriksson, Mikael; Evans, D. G.; Fasching, Peter A.; Flyger, Henrik; Fritschi, Lin; Gago-Dominguez, Manuela; García-Sáenz, José A.; Giles, Graham G.; Grip, Mervi; Guénel, Pascal; Gündert, Melanie; Hahnen, Eric; Haiman, Christopher A.; Håkansson, Niclas; Hall, Per; Hamann, Ute; Hart, Steven N.; Hartikainen, Jaana M.; Hartmann, Arndt; He, Wei; Hooning, Maartje J.; Hoppe, Reiner; Hopper, John L.; Howell, Anthony; Hunter, David J.; Jager, Agnes; Jakubowska, Anna; Janni, Wolfgang; John, Esther M.; Jung, Audrey Y.; Kaaks, Rudolf; Keupers, Machteld; Kitahara, Cari M.; Koutros, Stella; Kraft, Peter; Kristensen, Vessela N.; Kurian, Allison W.; Lacey, James V.; Lambrechts, Diether; Le Marchand, Loic; Lindblom, Annika; Linet, Martha; Luben, Robert N.; Lubiński, Jan; Lush, Michael; Mannermaa, Arto; Manoochehri, Mehdi; Margolin, Sara; Martens, John W. M.; Martinez, Maria E.; Mavroudis, Dimitrios; Michailidou, Kyriaki; Milne, Roger L.; Mulligan, Anna M.; Muranen, Taru A.; Nevanlinna, Heli; Newman, William G.; Nielsen, Sune F.; Nordestgaard, Børge G.; Olshan, Andrew F.; Olsson, Håkan; Orr, Nick; Park-Simon, Tjoung-Won; Patel, Alpa V.; Peissel, Bernard; Peterlongo, Paolo; Plaseska-Karanfilska, Dijana; Prajzendanc, Karolina; Prentice, Ross; Presneau, Nadege; Rack, Brigitte; Rennert, Gad; Rennert, Hedy S.; Rhenius, Valerie; Romero, Atocha; Roylance, Rebecca; Ruebner, Matthias; Saloustros, Emmanouil; Sawyer, Elinor J.; Schmutzler, Rita K.; Schneeweiss, Andreas; Scott, Christopher; Shah, Mitul; Smichkoska, Snezhana; Southey, Melissa C.; Stone, Jennifer; Surowy, Harald; Swerdlow, Anthony J.; Tamimi, Rulla M.; Tapper, William J.; Teras, Lauren R.; Terry, Mary B.; Tollenaar, Rob A. E. M.; Tomlinson, Ian; Troester, Melissa A.; Truong, Thérèse; Vachon, Celine M.; Wang, Qin; Hurson, Amber N.; Winqvist, Robert; Wolk, Alicja; Ziogas, Argyrios; Brauch, Hiltrud; García-Closas, Montserrat; Pharoah, Paul D. P.; Easton, Douglas F.; Chenevix-Trench, Georgia; Schmidt, Marjanka K. 2021 Articles Breast--Cancer--Genetic aspectsTumors--Genetic aspectsHuman genetics--Variation
5. 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
6. Characterizing human regulatory genetic variation using CRISPR/Cas9 genome editing Brandt, Margot 2020 Theses GeneticsHuman genetics--VariationCRISPR (Genetics)Medical geneticsGene editing
7. 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
8. Genetic Mechanisms of Regulated Stochastic Gene Expression Horta, Adan 2019 Theses NeurosciencesBiochemistryGeneticsOlfactory receptor genesGene expressionCadherinsHuman genetics--Variation
9. Naming Genes for Dystonia: DYT-z or Ditzy? Mencacci, Niccolo E.; Jinnah, H. A. 2019 Articles DystoniaHuman chromosomes--NomenclatureHuman genetics--VariationMovement disordersNeurology
10. Quantitative trait variation and adaptation in contemporary humans Mostafavi, Hakhamanesh 2019 Theses BiologyGeneticsHuman evolutionGenomes--Data processingHuman genetics--VariationMortality
11. 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
12. 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
13. 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
14. The generation and phenotypic effect of human genetic mutations Chen, Chen 2018 Theses BioinformaticsComputer scienceMutation (Biology)Human genetics--VariationMachine learning
15. 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
16. On Identifying Rare Variants for Complex Human Traits Fan, Ruixue 2015 Theses Regression analysisGenetics--Statistical methodsGenomics--Data processingHuman genetics--VariationStatisticsBioinformatics
17. 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
18. 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
19. 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
20. 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