1. Disentangling mutation and selection in human genetic variation: promises and pitfalls Agarwal, Ipsita 2021 Theses BiologyGeneticsEvolution (Biology)Mutation (Biology)Human genomeExomes
2. Population Genetics of Mutation Load and Quantitative Traits in Humans Simons, Yuval Benjamin 2019 Theses GeneticsBiologyHuman population geneticsMutation (Biology)
3. A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations Zhu, Xiaolin; Padmanabhan, Raghavendra; Copeland, Brett; Bridgers, Joshua S.; Ren, Zhong; Kamalakaran, Sitharthan; O’Driscoll-Collins, Ailbhe; Berkovic, Samuel F.; Scheffer, Ingrid E.; Poduri, Annapurna; Mei, Davide; Guerrini, Renzo; Lowenstein, Daniel H.; Allen, Andrew S.; Heinzen, Erin L.; Goldstein, David B. 2017 Articles Epilepsy--Genetic aspectsMutation (Biology)Nucleotide sequenceGenetics
4. TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus Ngoh, Adeline; Bras, Jose; Guerreiro, Rita; McTague, Amy; Ng, Joanne; Meyer, Esther; Chong, W. Kling; Boyd, Stewart; MacLellan, Linda; Kirkpatrick, Martin; Kurian, Manju A. 2017 Articles MyoclonusGeneticsMutation (Biology)
5. Evidence of a Mild Mutator Phenotype in Cambodian Plasmodium falciparum Malaria Parasites Lee, Andrew H.; Fidock, David Armand 2016 Articles Drug resistance in microorganismsPlasmodium falciparumMalariaMutation (Biology)GeneticsMolecular biologyParasitology
6. Interpreting the Dependence of Mutation Rates on Age and Time Gao, Ziyue; Wyman, Minyoung J.; Sella, Guy; Przeworski, Molly F. 2016 Articles DNA replicationCell divisionCells--Growth--Mathematical modelsDNA repairMutation (Biology)GeneticsBiologyCytology
7. Mutations in the Cholesterol Transporter Gene ABCA5 Are Associated with Excessive Hair Overgrowth DeStefano, Gina Marie; Kurban, Mazen; Anyane-Yeboa, Kwame; Dall'Armi, Claudia; Di Paolo, Gilbert; Feenstra, Heather; Silverberg, Nanette; Rohena, Luis; López-Cepeda, Larissa D.; Jobanputra, Vaidehi; Fantauzzo, Katherine A.; Kiuru, Maija; Tadin-Strapps, Marija; Sobrino, Antonio; Vitebsky, Anna; Warburton, Dorothy; Levy, Brynn; Salas-Alanis, Julio C.; Christiano, Angela M. 2014 Articles Mutation (Biology)KeratinocytesHypertrichosisGeneticsBiology
8. Refined histopathological predictors of BRCA1 and BRCA2mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia Spurdle, Amanda B.; Couch, Fergus J.; Parsons, Michael T.; McGuffog, Lesley; Barrowdale, Daniel; Bolla, Manjeet K.; Wang, Qin; Healey, Sue; Schmutzler, Rita Katharina; Wappenschmidt, Barbara; Rhiem, Kerstin; Hahnen, Eric; Engel, Christoph; Meindl, Alfons; Ditsch, Nina; Arnold, Norbert; Plendl, Hansjoerg; Niederacher, Dieter; Sutter, Christian; Wang-Gohrke, Shan; Steinemann, Doris; Preisler-Adams, Sabine; Kast, Karin; Varon-Mateeva, Raymonda; Ellis, Steve; Frost, Debra; Platte, Radka; Perkins, Jo; Evans, D Gareth; Davidson, Rosemarie; Izatt, Louise; Eeles, Ros; Adlard, Julian; Cole, Trevor; Scuvera, Giulietta; Manoukian, Siranoush; Bonanni, Bernardo; Mariette, Frederique; Fortuzzi, Stefano; Viel, Alessandra; Pasini, Barbara; Papi, Laura; Nathanson, Katherine L.; Varesco, Liliana; Balleine, Rosemary; Offit, Kenneth; Domchek, Susan M.; Jakubowska, Anna; Lindor, Noralane; Thomassen, Mads; Jensen, Uffe Birk; Rantala, Johanna; Miron, Alexander; Borg, Åke; Andrulis, Irene L.; Caldes, Trinidad; Hansen, Thomas V. O.; Neuhausen, Susan L.; Toland, Amanda E.; Nevanlinna, Heli; Montagna, Marco; Godwin, Andrew K.; Garber, Judy; Osorio, Ana; Factor, Rachel E.; Terry, Mary Beth; Rebbeck, Timothy R.; Karlan, Beth Y.; Southey, Melissa; Rashid, Muhammad Usman; Tung, Nadine; Pharoah, Paul D. P.; Blows, Fiona M.; Provenzano, Elena; Dunning, Alison M.; Hall, Per; Czene, Kamila; Schmidt, Marjanka K.; Broeks, Annegien; Verhoef, Senno; Cornelissen, Sten; Fasching, Peter A.; Beckmann, Matthias W.; Ekici, Arif B.; Slamon, Dennis J.; Nordestgaard, Børge G.; Nielsen, Sune F.; Bojesen, Stig E.; Flyger, Henrik; Chang-Claude, Jenny; Flesch-Janys, Dieter; Rudolph, Anja; Seibold, Petra; Aittomäki, Kristiina; Muranen, Taru A.; Heikkilä, Päivi; Blomqvist, Carl; Chanock, Stephen J.; Figueroa, Jonine; Brinton, Louise; Lissowska, Jolanta; Olson, Janet E.; Pankratz, Vernon S.; John, Esther M.; West, Dee W.; Whittemore, Alice S.; Hamann, Ute; Torres, Diana; Ulmer, Hans Ulrich; Rüdiger, Thomas; Devilee, Peter; Tollenaar, Robert A. E. M.; Seynaeve, Caroline; Asperen, Christi J. Van; Eccles, Diana M.; Tapper, William J.; Durcan, Lorraine; Jones, Louise; Peto, Julian; dos-Santos-Silva, Isabel; Fletcher, Olivia; Johnson, Nichola; Dwek, Miriam; Bane, Anita L.; Swann, Ruth; Glendon, Gord; Mulligan, Anna M.; Giles, Graham G.; Milne, Roger L.; Baglietto, Laura; McLean, Catriona; Carpenter, Jane; Clarke, Christine; Scott, Rodney; Brüning, Thomas; Brauch, Hiltrud; Ko, Yon-Dschun; Cox, Angela; Cross, Simon S.; Reed, Malcolm W. R.; Jaworska-Bieniek, Katarzyna; Lubinski, Jan; Durda, Katarzyna; Gronwald, Jacek; Dörk, Thilo; Bogdanova, Natalia; Park-Simon, Tjoung-Won; Hillemanns, Peter; Haiman, Christopher A.; Henderson, Brian E.; Schumacher, Fredrick; Le Marchand, Loic; Marme, Frederik; Burwinkel, Barbara; Yang, Rongxi; Surovy, Harald; Anton-Culver, Hoda; Ziogas, Argyrios; Hooning, Maartje J.; Collée, Margriet; Martens, John W. M.; Tilanus-Linthorst, Madeleine M. A.; Brenner, Hermann; Dieffenbach, Aida Karina; Arndt, Volke; Stegmaier, Christa; Jukkola-Vuorinen, Arja; Pylkäs, Katri; Winqvist, Robert; Grip, Mervi; Lindblom, Annika; Margolin, Sara; Joseph, Vijai; González-Neira, Anna; Rau-Murthy, Rohini; Robson, Mark; Arias, José Ignacio; Zamora, Pilar; Benítez, Javier; Mannermaa, Arto; Kataja, Vesa; Kosma, Veli-Matti; Hartikainen, Jaana M.; Peterlongo, Paolo; Peterlongo, Paolo; Zaffaroni, Daniela; Capra, Fabio; Barile, Monica; Radice, Paolo; Teo, Soo H.; Easton, Douglas F.; Chenevix-Trench, Georgia; Antoniou, Antonis C.; Goldgar, David E. 2014 Articles Breast--HistopathologyMutation (Biology)Breast--TumorsGeneticsOncology
9. Spinster Homolog 2 (Spns2) Deficiency Causes Early Onset Progressive Hearing Loss Chen, Jing; Ingham, Neil; Kelly, John; Jadeja, Shalini; Goulding, David; Pass, Johanna; Mahajan, Vinit B.; Tsang, Stephen H.; Nijnik, Anastasia; Jackson, Ian J.; White, Jacqueline K.; Forge, Andrew; Jagger, Daniel; Steel, Karen P. 2014 Articles Mutation (Biology)CochleaDeafnessGeneticsBiologyAudiology
10. A Mutation in Mouse Pak1ip1 Causes Orofacial Clefting while Human PAK1IP1 Maps to 6p24 Translocation Breaking Points Associated with Orofacial Clefting Ross, Adam P.; Mansilla, M. Adela; Choe, Youngshik; Helminski, Simon; Sturm, Richard; Maute, Roy L.; May, Scott R.; Hozyasz, Kamil K.; Wójcicki, Piotr; Mostowska, Adrianna; Davidson, Beth; Adamopoulos, Iannis E.; Pleasure, Samuel J.; Murray, Jeffrey C.; Zarbalis, Konstantinos S. 2013 Articles Cleft lip--Genetic aspectsBiosynthesisMutation (Biology)Molecular biologyGeneticsOncology
11. An Investigation into the Function and Specification of Enteroendocrine cells in Drosophila melanogaster and Mus musculus Bost, Alyssa 2013 Theses Endocrine glandsMutation (Biology)Drosophila melanogasterGeneticsEndocrinology
12. Computational Inferences of Mutations Driving Mesenchymal Differentiation in Glioblastoma Chen, James C. 2013 Theses Mutation (Biology)Mesenchymal stem cells--DifferentiationSystems biologyRetinoblastomaBioinformaticsGeneticsBiology
13. Lack of Genetic Interaction between Tbx20 and Tbx3 in Early Mouse Heart Development Gavrilov, Svetlana; Harvey, Richard P.; Papaioannou, Virginia E. 2013 Articles Heart--Abnormalities--Genetic aspectsEmbryologyMutation (Biology)Developmental biologyGenetics
14. Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 Mulligan, Anna; Couch, Fergus; Barrowdale, Daniel; Domchek, Susan; Eccles, Diana; Nevanlinna, Heli; Ramus, Susan; Robson, Mark; Sherman, Mark; Spurdle, Amanda; Wappenschmidt, Barbara; Lee, Andrew; McGuffog, Lesley; Healey, Sue; Sinilnikova, Olga; Janavicius, Ramunas; Hansen, Thomas; Nielsen, Finn; Ejlertsen, Bent; Osorio, Ana; Muñoz-Repeto, Ivan; Duran, Mercedes; Godino, Javier; Pertesi, Maroulio; Benítez, Javier; Peterlongo, Paolo; Manoukian, Siranoush; Peissel, Bernard; Zaffaroni, Daniela; Cattaneo, Elisa; Bonanni, Bernardo; Viel, Alessandra; Pasini, Barbara; Papi, Laura; Ottini, Laura; Savarese, Antonella; Bernard, Loris; Radice, Paolo; Hamann, Ute; Verheus, Martijn; Meijers-Heijboer, Hanne; Wijnen, Juul; Gómez García, Encarna; Nelen, Marcel; Kets, C Marleen; Seynaeve, Caroline; Tilanus-Linthorst, Madeleine; van der Luijt, Rob; Os, Theo; Rookus, Matti; Frost, Debra; Jones, J. Louise; Evans, D. Gareth; Lalloo, Fiona; Eeles, Ros; Izatt, Louise; Adlard, Julian; Davidson, Rosemarie; Cook, Jackie; Donaldson, Alan; Dorkins, Huw; Gregory, Helen; Eason, Jacqueline; Houghton, Catherine; Barwell, Julian; Side, Lucy; McCann, Emma; Murray, Alex; Peock, Susan; Godwin, Andrew; Schmutzler, Rita; Rhiem, Kerstin; Engel, Christoph; Meindl, Alfons; Ruehl, Ina; Arnold, Norbert; Niederacher, Dieter; Sutter, Christian; Deissler, Helmut; Gadzicki, Dorothea; Kast, Karin; Preisler-Adams, Sabine; Varon-Mateeva, Raymonda; Schoenbuchner, Ines; Fiebig, Britta; Heinritz, Wolfram; Schäfer, Dieter; Gevensleben, Heidrun; Caux-Moncoutier, Virginie; Fassy-Colcombet, Marion; Cornelis, François; Mazoyer, Sylvie; Léoné, Mélanie; Boutry-Kryza, Nadia; Hardouin, Agnès; Berthet, Pascaline; Muller, Danièle; Fricker, Jean-Pierre; Mortemousque, Isabelle; Pujol, Pascal; Coupier, Isabelle; Lebrun, Marine; Kientz, Caroline; Longy, Michel; Sevenet, Nicolas; Stoppa-Lyonnet, Dominique; Isaacs, Claudine; Caldes, Trinidad; de la Hoya, Miguel; Heikkinen, Tuomas; Aittomäki, Kristiina; Blanco, Ignacio; Lazaro, Conxi; Barkardottir, Rosa; Soucy, Penny; Dumont, Martine; Simard, Jacques; Montagna, Marco; Tognazzo, Silvia; D'Andrea, Emma; Fox, Stephen; Yan, Max; Rebbeck, Tim; Olopade, Olufunmilayo; Weitzel, Jeffrey; Lynch, Henry; Ganz, Patricia; Tomlinson, Gail; Wang, Xianshu; Fredericksen, Zachary; Pankratz, Vernon; Lindor, Noralane; Szabo, Csilla; Offit, Kenneth; Sakr, Rita; Gaudet, Mia; Bhatia, Jasmine; Kauff, Noah; Singer, Christian; Tea, Muy-Kheng; Gschwantler-Kaulich, Daphne; Fink-Retter, Anneliese; Mai, Phuong; Greene, Mark; Imyanitov, Evgeny; O'Malley, Frances; Ozcelik, Hilmi; Glendon, Gordon; Toland, Amanda; Gerdes, Anne-Marie; Thomassen, Mads; Kruse, Torben; Jensen, Uffe; Skytte, Anne-Bine; Caligo, Maria; Soller, Maria; Henriksson, Karin; Wachenfeldt, von Anna; Arver, Brita; Stenmark-Askmalm, Marie; Karlsson, Per; Ding, Yuan; Neuhausen, Susan; Beattie, Mary; Pharoah, Paul; Moysich, Kirsten; Nathanson, Katherine; Karlan, Beth; Gross, Jenny; John, Esther; Daly, Mary; Buys, Saundra; Southey, Melissa; Hopper, John; Terry, Mary Beth; Chung, Wendy K.; Miron, Alexander; Goldgar, David; Chenevix-Trench, Georgia; Easton, Douglas; Andrulis, Irene; Antoniou, Antonis 2011 Articles Mutation (Biology)Breast--CancerGeneticsMolecular biology
15. Neuronal migration defects in the Loa dynein mutant mouse Ori-McKenney, Kassandra; Vallee, Richard 2011 Articles Mutation (Biology)DyneinGeneticsNeurosciences
16. NPHS2 variation in focal and segmental glomerulosclerosis Tonna, Stephen; Needham, Alexander; Polu, Krishna; Uscinski, Andrea; Appel, Gerald B.; Falk, Ronald; Katz, Avi; Al-Waheeb, Salah; Kaplan, Bernard; Jerums, George; Savige, Judy; Harmon, Jennifer; Zhang, Kang; Curhan, Gary; Pollak, Martin 2008 Articles Mutation (Biology)ProteinuriaGeneticsMedical sciences