1. Computational Framework for the Identification of Neural Circuits Underlying Psychiatric Disorders Chang, Jonathan 2021 Theses NeurosciencesComputer scienceBiologyAutism spectrum disordersMutation (Biology)Basal ganglia--DiseasesLimbic system--Diseases
2. Disentangling mutation and selection in human genetic variation: promises and pitfalls Agarwal, Ipsita 2021 Theses BiologyGeneticsEvolution (Biology)Mutation (Biology)Human genomeExomes
3. Paired SARS-CoV-2 spike protein mutations observed during ongoing SARS-CoV-2 viral transfer from humans to minks and back to humans Burkholz, Scott; Pokhrel, Suman; Kraemer, Benjamin R.; Mochly-Rosen, Daria; Carback, III, Richard T.; Hodge, Tom; Harris, Paul Emerson; Ciotlos, Serban; Wang, Lu; Herst, C. V.; Rubsamen, Reid M. 2021 Articles COVID-19 (Disease)ZoonosesMinksBioinformaticsMutation (Biology)
4. Targeting Histone Modifications in Isocitrate Dehydrogenase-1 R132H Mutated Glioma and Oligodendrocyte Progenitor Cells Sprinzen, Lisa Michelle 2021 Theses OncologyMiceGliomasStem cellsMutation (Biology)
5. The pH-sensing mechanism of antibody recycling by the neonatal Fc receptor revealed using free energy perturbation calculations Sampson, Jared Matthew 2021 Theses BiophysicsImmune system--PhysiologyImmunoglobulinsChemical bondsMutation (Biology)
6. Mechanisms and therapeutic targeting of NT5C2 mutations in relapsed acute lymphoblastic leukemia Dieck, Chelsea 2019 Theses BiochemistryLymphoblastic leukemiaDrug resistanceOncologyMutation (Biology)Molecular biology
7. Phase II trial of AKT inhibitor MK-2206 in patients with advanced breast cancer who have tumors with PIK3CA or AKT mutations, and/or PTEN loss/PTEN mutation Xing, Yan; Lin, Nancy U.; Maurer, Matthew A.; Chen, Huiqin; Mahvash, Armeen; Sahin, Aysegul; Akcakanat, Argun; Li, Yisheng; Abramson, Vandana; Litton, Jennifer; Chavez-MacGregor, Mariana; Valero, Vicente; Piha-Paul, Sarina A.; Hong, David; Do, Kim-Anh; Tarco, Emily; Riall, Dianna; Eterovic, Agda K.; Wulf, Gerburg M.; Cantley, Lewis C.; Mills, Gordon B.; Doyle, L. A.; Winer, Eric; Hortobagyi, Gabriel N.; Gonzalez-Angulo, Ana M.; Meric-Bernstam, Funda 2019 Articles Breast--Cancer--TreatmentGenomicsBiochemical markersMutation (Biology)
8. Population Genetics of Mutation Load and Quantitative Traits in Humans Simons, Yuval Benjamin 2019 Theses GeneticsBiologyHuman population geneticsMutation (Biology)
9. A role for the unfolded protein response stress sensor ERN1 in regulating the response to MEK inhibitors in KRAS mutant colon cancers Šuštić, Tonći; van Wageningen, Sake; Bosdriesz, Evert; Reid, Robert J. D.; Dittmar, John; Lieftink, Cor; Beijersbergen, Roderick L.; Wessels, Lodewyk F. A.; Rothstein, Rodney; Bernards, René 2018 Articles Mutation (Biology)Colon (Anatomy)--CancerGenomicsMolecular biology
10. Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome Hoff, Kirsten E.; DeBalsi, Karen L.; Sanchez Quintero, Maria Jose; Longley, Matthew J.; Hirano, Michio; Naini, Ali B.; Copeland, William C. 2018 Articles Mitochondrial DNAMutation (Biology)CytologyBiochemistryFibroblasts
11. Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity Liu, Katherine Y.; Sengillo, Jesse D.; Velez, Gabriel; Jauregui, Ruben; Sakai, Lynn Y.; Maumenee, Irene H.; Bassuk, Alexander G.; Mahajan, Vinit B.; Tsang, Stephen H. 2018 Articles OphthalmologyMyopiaAnisometropiaMutation (Biology)Connective tissuesObesity
12. Parkinson’s disease-linked Parkin mutations impair glutamatergic signaling in hippocampal neurons Zhu, Mei; Cortese, Giuseppe P.; Waites, Clarissa L. 2018 Articles BiologyNeurosciencesParkinson's diseaseSynapsesMutation (Biology)
13. Symbiont interactions with non-native hosts limit the formation of new symbioses Niepoth, Natalie; Ellers, Jacintha; Henry, Lee M. 2018 Articles Mutation (Biology)SymbiosisEvolution (Biology)Ecology
14. Systematic reconstruction of autism biology from massive genetic mutation profiles Luo, Weijun; Zhang, Chaolin; Jiang, Yong-hui; Brouwer, Cory R. 2018 Articles Mutation (Biology)Developmental geneticsAutism--ResearchAutism spectrum disorders--Genetic aspectsSystems biology
15. The generation and phenotypic effect of human genetic mutations Chen, Chen 2018 Theses BioinformaticsComputer scienceMutation (Biology)Human genetics--VariationMachine learning
16. 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
17. Supplemental Data: 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 Data (Information) Myoclonus--Genetic aspectsMutation (Biology)Neurosciences
18. 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)
19. TDP-43 and FUS in Amyotrophic Lateral Sclerosis: From Animal Models to Disease Mechanisms Ebstein, Sarah Yehudit 2017 Theses NeurosciencesAmyotrophic lateral sclerosisMutation (Biology)Nervous system--Diseases--Animal models
20. The population genetics of human disease: The case of recessive, lethal mutations Amorim, Carlos Eduardo G.; Gao, Ziyue; Baker, Zachary; Diesel, Jose Francisco; Simons, Yuval Benjamin; Haque, Imran S.; Pickrell, Joseph K.; Przeworski, Molly F. 2017 Articles Population geneticsBiologyMutation (Biology)Medical genetics
21. 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
22. Human Germline Mutation and the Erratic Evolutionary Clock Moorjani, Priya Gian; Gao, Ziyue; Przeworski, Molly F. 2016 Articles Mutation (Biology)Evolution (Biology)Germ cellsBiology
23. 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
24. The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes Gussow, Ayal B.; Petrovski, Slave; Wang, Quanli; Allen, Andrew S.; Goldstein, David B. 2016 Articles Genetic regulationMutation (Biology)TolerationGenomics
25. An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers Blein, Sophie; Bardel, Claire; Danjean, Vincent; McGuffog, Lesley; Healey, Sue; Barrowdale, Daniel; Lee, Andrew; Dennis, Joe; Kuchenbaecker, Karoline B.; Soucy, Penny; Terry, Mary Beth; Chung, Wendy K.; Goldgar, David E.; Janavicius, Ramunas; Buys, Saundra S.; Tihomirova, Laima; Tung, Nadine; Dorfling, Cecilia M.; Neuhausen, Susan L.; van Rensburg, Elizabeth J.; Ding, Yuan Chun; Gerdes, Anne-Marie; Ejlertsen, Bent; Nielsen, Finn C.; Hansen, Thomas V. O.; Osorio, Ana; Benitez, Javier; Conejero, Raquel Andrés; Segota, Ena; Weitzel, Jeffrey N.; Thelander, Margo; Peterlongo, Paolo; Radice, Paolo; Pensotti, Valeria; Dolcetti, Riccardo; Peissel, Bernard; Bonanni, Bernardo; Zaffaroni, Daniela; Scuvera, Giulietta; Manoukian, Siranoush; Capone, Gabriele L.; Varesco, Liliana; Papi, Laura; Ottini, Laura; Yannoukakos, Drakoulis; Konstantopoulou, Irene; Garber, Judy; Donaldson, Alan; Hamann, Ute; Brady, Angela; Brewer, Carole; Foo, Claire; Evans, D Gareth; Frost, Debra; Eccles, Diana; Douglas, Fiona; Cook, Jackie; Adlard, Julian; Barwell, Julian; Walker, Lisa; Izatt, Louise; Kennedy, M. John; Rogers, Mark T.; Side, Lucy E.; Tischkowitz, Marc; Porteous, Mary E.; Morrison, Patrick J.; Platte, Radka; Davidson, Rosemarie; Eeles, Ros; Hodgson, Shirley; Cole, Trevor; Godwin, Andrew K.; Isaacs, Claudine; Claes, Kathleen; Leeneer, Kim De; Meindl, Alfons; Gehrig, Andrea; Wappenschmidt, Barbara; Engel, Christoph; Sutter, Christian; Niederacher, Dieter; Steinemann, Doris; Plendl, Hansjoerg; Kast, Karin; Rhiem, Kerstin; Ditsch, Nina; Arnold, Norbert; Varon-Mateeva, Raymonda; Schmutzler, Rita K.; Preisler-Adams, Sabine; Markov, Nadja Bogdanova; Wang-Gohrke, Shan; de Pauw, Antoine; Lefol, Cédrick; Leroux, Dominique; Lasset, Christine; Rouleau, Etienne; Damiola, Francesca; Dreyfus, Hélène; Barjhoux, Laure; Golmard, Lisa; Uhrhammer, Nancy; Bonadona, Valérie; Bignon, Yves-Jean; Sornin, Valérie; Carter, Jonathan; Le, Linda Van; Piedmonte, Marion; DiSilvestro, Paul A.; de la Hoya, Miguel; Caldes, Trinidad; Nevanlinna, Heli; Aittomäki, Kristiina; van den Ouweland, Ans M. W.; Kets, Carolien M.; Aalfs, Cora M.; Jager, Agnes; van Leeuwen, Flora E.; Hogervorst, Frans B. L.; Meijers-Heijboer, Hanne E. J.; Oosterwijk, Jan C.; van Roozendaal, Kees E. P.; Rookus, Matti A.; Devilee, Peter; van der Luijt, Rob B.; Olah, Edith; Diez, Orland; Lazaro, Conxi; Teulé, Alex; Blanco, Ignacio; Del Valle, Jesús; Jakubowska, Anna; Sukiennicki, Grzegorz; Gronwald, Jacek; Lubinski, Jan; Durda, Katarzyna; Jaworska-Bieniek, Katarzyna; Agnarsson, Bjarni A.; Amadori, Alberto; Maugard, Christine; Montagna, Marco; Teixeira, Manuel R.; Spurdle, Amanda B.; Foulkes, William; Olswold, Curtis; Lindor, Noralane M.; Pankratz, Vernon S.; Szabo, Csilla I.; Lincoln, Anne; Jacobs, Lauren; Corines, Marina; Robson, Mark; Vijai, Joseph; Fink-Retter, Anneliese; Berger, Andreas; Singer, Christian F.; Rappaport, Christine; Kaulich, Daphne Geschwantler; Pfeiler, Georg; Tea, Muy-Kheng; Mai, Phuong L.; Greene, Mark H.; Rennert, Gad; Imyanitov, Evgeny N.; Mulligan, Anna Marie; Glendon, Gord; Andrulis, Irene L.; Tchatchou, Sandrine; Toland, Amanda Ewart; Pedersen, Inge Sokilde; Thomassen, Mads; Kruse, Torben A.; Caligo, Maria A.; Jensen, Uffe Birk; Friedman, Eitan; Zidan, Jamal; Laitman, Yael; Melin, Beatrice; Lindblom, Annika; Arver, Brita; Loman, Niklas; Rosenquist, Richard; Olopade, Olufunmilayo I.; Nussbaum, Robert L.; Ramus, Susan J.; Nathanson, Katherine L.; Domchek, Susan M.; Rebbeck, Timothy R.; Arun, Banu K.; Mitchell, Gillian; Karlan, Beth Y.; Lester, Jenny; Orsulic, Sandra; Stoppa-Lyonnet, Dominique; Thomas, Gilles; Simard, Jacques; Offit, Kenneth; Couch, Fergus J.; Easton, Douglas F.; Chenevix-Trench, Georgia; Antoniou, Antonis C.; Mazoyer, Sylvie; Phelan, Catherine M.; Sinilnikova, Olga M.; Cox, David G.; EMBRACE; HEBON; GEMO Study Collaborators 2015 Articles Breast--Cancer--Genetic aspectsMitochondrial DNAMutation (Biology)Oncology
26. High Prevalence of inhA Promoter Mutations among Patients with Drug-Resistant Tuberculosis in KwaZulu-Natal, South Africa Niehaus, Abraham J.; Mlisana, Koleka; Gandhi, Neel R.; Mathema, Barun; Brust, James C. M. 2015 Articles IsoniazidMutation (Biology)Multidrug-resistant tuberculosisPublic healthEpidemiologyMedicine
27. Mutant p53 cooperates with the SWI/SNF chromatin remodeling complex to mediate VEGFR2 expression in breast cancer cells Pfister, Neil Thomas 2015 Theses Vascular endothelial growth factorsTranscription factorsMutation (Biology)OncologyMolecular biologyMedicine
28. RNA Exosome Regulated Antisense and Divergent Noncoding RNA Facilitate AID Targeting Throughout the B Cell Genome Pefanis, Evangelos 2015 Theses B cellsMutation (Biology)ImmunoglobulinsMolecular biologyImmunology
29. Broadening horizons: holistic viewpoints from the Biology of Genomes Carr, Ambrose James; Pe'er, Dana 2014 Articles Medical transcriptionMutation (Biology)GenomicsBiologyBiomechanics
30. Coherent Somatic Mutation in Autoimmune Disease Ross, Kenneth A. 2014 Articles Mutation (Biology)Antibody diversityAutoimmune diseasesComputer science
31. 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
32. 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
33. 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
34. 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
35. 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
36. Computational Inferences of Mutations Driving Mesenchymal Differentiation in Glioblastoma Chen, James C. 2013 Theses Mutation (Biology)Mesenchymal stem cells--DifferentiationSystems biologyRetinoblastomaBioinformaticsGeneticsBiology
37. 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
38. Network and Algebraic Topology of Influenza Evolution Chan, Joseph 2013 Theses InfluenzaVirologyEpidemicsEvolution (Biology)Mutation (Biology)
39. 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
40. Neuronal migration defects in the Loa dynein mutant mouse Ori-McKenney, Kassandra; Vallee, Richard 2011 Articles Mutation (Biology)DyneinGeneticsNeurosciences
41. Genotoxic responses to titanium dioxide nanoparticles and fullerene in gpt delta transgenic MEF cells Xu, An; Chai, Yunfei; Nohmi, Takehiko; Hei, Tom K. 2009 Articles NanoparticlesMutation (Biology)MedicineToxicology
42. WT1 mutations in T-ALL Tosello, Valeria; Mansour, Marc R.; Barnes, Kelly; Paganin, Maddalena; Sulis, Maria-Luisa; Jenkinson, Sarah; Allen, Christopher G.; Gale, Rosemary E.; Linch, David C.; Palomero, Teresa; Real, Pedro; Vundavalli, Murty V.; Yao, Xiaopan; Richards, Susan M.; Goldstone, Anthony; Rowe, Jacob; Basso, Giuseppe; Wiernik, Peter H.; Paietta, Elisabeth; Pieters, Rob; Horstmann, Martin; Meijerink, Jules P. P.; Ferrando, Adolfo A. 2009 Articles LymphomasAdult T-cell leukemiaT cellsMutation (Biology)Pathology
43. 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
44. Dermal fibroblasts in Hutchinson-Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress Paradisi, Mauro; McClintock, Dayle; Boguslavsky, Revekka; Pedicelli, Christina; Worman, Howard; Djabali, Karima 2005 Articles FibroblastsMutation (Biology)ProgeriaMedicineCytology
45. Transcription factors in normal and malignant cells Herrlich, Peter; Ponta, Helmut; Stein, Bernd; Jonat, Carsten; Gebel, Stephan; König, Harald; Williams, Richard O.; Ivanov, Vladimir N.; Rahmsdorf, Hans J. 1990 Chapters (Layout Features) Transcription factorsMutation (Biology)Gene expressionGenetic regulationCarcinogenesisOncology
46. Targeted gene disruption of the endogenous c-abl locus by homologous recombination with DNA encoding a selectable fusion protein Goff, Stephen P.; Robertson, Elizabeth J.; Schwartzberg, Pamela L. 1987 Articles Genetic recombinationMutation (Biology)Recombinant proteinsMolecular biology