Mahoganoid and Mahogany Mutations Rectify the Obesity of the Yellow Mouse by Effects on Endosomal Traffic of MC4R Protein

Por Overton, John D., Leibel, Rudolph L.
Publicado em 2011

Flexible and scalable genotyping-by-sequencing strategies for population studies

Por Heffelfinger, Christopher, Fragoso, Christopher A, Moreno, Maria A, Overton, John D, Mottinger, John P, Zhao, Hongyu, Tohme, Joe, Dellaporta, Stephen L
Publicado no BMC Genomics (2014)

Molecular chaperone Hsp110 rescues a vesicle transport defect produced by an ALS-associated mutant SOD1 protein in squid axoplasm

Por Song, Yuyu, Nagy, Maria, Ni, Weiming, Tyagi, Navneet K., Fenton, Wayne A., López-Giráldez, Francesc, Overton, John D., Horwich, Arthur L., Brady, Scott T.
Publicado em 2013

Measuring Absolute RNA Copy Numbers at High Temporal Resolution Reveals Transcriptome Kinetics In Development

Por Owens, Nick D. L., Blitz, Ira L., Lane, Maura A., Patrushev, Ilya, Overton, John D., Gilchrist, Michael J., Cho, Ken W. Y., Khokha, Mustafa K.
Publicado no Cell Rep (2016)

CLAMMS: a scalable algorithm for calling common and rare copy number variants from exome sequencing data

Por Packer, Jonathan S., Maxwell, Evan K., O’Dushlaine, Colm, Lopez, Alexander E., Dewey, Frederick E., Chernomorsky, Rostislav, Baras, Aris, Overton, John D., Habegger, Lukas, Reid, Jeffrey G.
Publicado no Bioinformatics (2016)

Somatic HRAS p.G12S Mutation Causes Woolly Hair and Epidermal Nevi

Por Levinsohn, Jonathan L., Teng, Joyce, Craiglow, Brittany G., Loring, Erin C., Burrow, T. Andrew, Mane, Shrikant S., Overton, John D., Lifton, Richard P., McNiff, Jennifer M., Lucky, Anne W., Choate, Keith A.
Publicado em 2013

Langerhans Cells Facilitate Epithelial DNA Damage and Squamous Cell Carcinoma

Por Modi, Badri G., Neustadter, Jason, Binda, Elisa, Lewis, Julia, Filler, Renata B., Roberts, Scott J., Kwong, Bernice Y., Reddy, Swapna, Overton, John D., Galan, Anjela, Tigelaar, Robert, Cai, Lining, Fu, Peter, Shlomchik, Mark, Kaplan, Daniel H., Hayday, Adrian, Girardi, Michael
Publicado em 2012

Whole exome sequencing reveals somatic mutations in HRAS and KRAS which cause nevus sebaceus

Por Levinsohn, Jonathan L., Tian, Li C., Boyden, Lynn M., McNiff, Jennifer M., Narayan, Deepak, Loring, Erin S., Yun, Duri, Sugarman, Jeffrey L., Overton, John D., Mane, Shrikant M., Lifton, Richard P., Paller, Amy S., Wagner, Annette M., Antaya, Richard J., Choate, Keith A.
Publicado em 2012

Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomas

Por Cromer, M. Kyle, Choi, Murim, Nelson-Williams, Carol, Fonseca, Annabelle L., Kunstman, John W., Korah, Reju M., Overton, John D., Mane, Shrikant, Kenney, Barton, Malchoff, Carl D., Stalberg, Peter, Akerström, Göran, Westin, Gunnar, Hellman, Per, Carling, Tobias, Björklund, Peyman, Lifton, Richard P.
Publicado no Proc Natl Acad Sci U S A (2015)

INTEGRATING CLINICAL LABORATORY MEASURES AND ICD-9 CODE DIAGNOSES IN PHENOME-WIDE ASSOCIATION STUDIES

Por Verma, Anurag, Leader, Joseph B., Verma, Shefali S., Frase, Alex, Wallace, John, Dudek, Scott, Lavage, Daniel R., Van Hout, Cristopher V., Dewey, Frederick E., Penn, John, Lopez, Alex, Overton, John D., Carey, David J., Ledbetter, David H., Kirchner, H. Lester, Ritchie, Marylyn D., Pendergrass, Sarah A.
Publicado no Pac Symp Biocomput (2016)

Genomic landscape of cutaneous T cell lymphoma

Por Choi, Jaehyuk, Goh, Gerald, Walradt, Trent, Hong, Bok S., Bunick, Christopher G., Chen, Kan, Bjornson, Robert D., Maman, Yaakov, Wang, Tiffany, Tordoff, Jesse, Carlson, Kacie, Overton, John D., Liu, Kristina J., Lewis, Julia M., Devine, Lesley, Barbarotta, Lisa, Foss, Francine M., Subtil, Antonio, Vonderheid, Eric C., Edelson, Richard L., Schatz, David G., Boggon, Titus J., Girardi, Michael, Lifton, Richard P.
Publicado no Nat Genet (2015)

Whole-Exome Sequencing Characterizes the Landscape of Somatic Mutations and Copy Number Alterations in Adrenocortical Carcinoma

Por Juhlin, C. Christofer, Goh, Gerald, Healy, James M., Fonseca, Annabelle L., Scholl, Ute I., Stenman, Adam, Kunstman, John W., Brown, Taylor C., Overton, John D., Mane, Shrikant M., Nelson-Williams, Carol, Bäckdahl, Martin, Suttorp, Anna-Carinna, Haase, Matthias, Choi, Murim, Schlessinger, Joseph, Rimm, David L., Höög, Anders, Prasad, Manju L., Korah, Reju, Larsson, Catharina, Lifton, Richard P., Carling, Tobias
Publicado no J Clin Endocrinol Metab (2015)

Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia

Por Lim, Young H., Ovejero, Diana, Sugarman, Jeffrey S., DeKlotz, Cynthia M.C., Maruri, Ann, Eichenfield, Lawrence F., Kelley, Patrick K., Jüppner, Harald, Gottschalk, Michael, Tifft, Cynthia J., Gafni, Rachel I., Boyce, Alison M., Cowen, Edward W., Bhattacharyya, Nisan, Guthrie, Lori C., Gahl, William A., Golas, Gretchen, Loring, Erin C., Overton, John D., Mane, Shrikant M., Lifton, Richard P., Levy, Moise L., Collins, Michael T., Choate, Keith A.
Publicado em 2014

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

Por Lemaire, Mathieu, Frémeaux-Bacchi, Véronique, Schaefer, Franz, Choi, Murim, Tang, Wai Ho, Le Quintrec, Moglie, Fakhouri, Fadi, Taque, Sophie, Nobili, François, Martinez, Frank, Ji, Weizhen, Overton, John D., Mane, Shrikant M., Nürnberg, Gudrun, Altmüller, Janine, Thiele, Holger, Morin, Denis, Deschenes, Georges, Baudouin, Véronique, Llanas, Brigitte, Collard, Laure, Majid, Mohammed A., Simkova, Eva, Nürnberg, Peter, Rioux-Leclerc, Nathalie, Moeckel, Gilbert W., Gubler, Marie Claire, Hwa, John, Loirat, Chantal, Lifton, Richard P.
Publicado em 2013

Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism

Por Scholl, Ute I., Goh, Gerald, Stölting, Gabriel, de Oliveira, Regina Campos, Choi, Murim, Overton, John D., Fonseca, Annabelle L., Korah, Reju, Starker, Lee F., Kunstman, John W., Prasad, Manju L., Hartung, Erum A., Mauras, Nelly, Benson, Matthew R., Brady, Tammy, Shapiro, Jay R., Loring, Erin, Nelson-Williams, Carol, Libutti, Steven K., Mane, Shrikant, Hellman, Per, Westin, Gunnar, Åkerström, Göran, Björklund, Peyman, Carling, Tobias, Fahlke, Christoph, Hidalgo, Patricia, Lifton, Richard P.
Publicado em 2013

Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease

Por Dewey, Frederick E., Gusarova, Viktoria, O’Dushlaine, Colm, Gottesman, Omri, Trejos, Jesus, Hunt, Charleen, Van Hout, Cristopher V., Habegger, Lukas, Buckler, David, Lai, Ka-Man V., Leader, Joseph B., Murray, Michael F., Ritchie, Marylyn D., Kirchner, H. Lester, Ledbetter, David H., Penn, John, Lopez, Alexander, Borecki, Ingrid B., Overton, John D., Reid, Jeffrey G., Carey, David J., Murphy, Andrew J., Yancopoulos, George D., Baras, Aris, Gromada, Jesper, Shuldiner, Alan R.
Publicado no N Engl J Med (2016)

Landscape of somatic single-nucleotide and copy-number mutations in uterine serous carcinoma

Por Zhao, Siming, Choi, Murim, Overton, John D., Bellone, Stefania, Roque, Dana M., Cocco, Emiliano, Guzzo, Federica, English, Diana P., Varughese, Joyce, Gasparrini, Sara, Bortolomai, Ileana, Buza, Natalia, Hui, Pei, Abu-Khalaf, Maysa, Ravaggi, Antonella, Bignotti, Eliana, Bandiera, Elisabetta, Romani, Chiara, Todeschini, Paola, Tassi, Renata, Zanotti, Laura, Carrara, Luisa, Pecorelli, Sergio, Silasi, Dan-Arin, Ratner, Elena, Azodi, Masoud, Schwartz, Peter E., Rutherford, Thomas J., Stiegler, Amy L., Mane, Shrikant, Boggon, Titus J., Schlessinger, Joseph, Lifton, Richard P., Santin, Alessandro D.
Publicado em 2013

De novo mutations revealed by whole exome sequencing are strongly associated with autism

Por Sanders, Stephan J., Murtha, Michael T., Gupta, Abha R., Murdoch, John D., Raubeson, Melanie J., Willsey, A. Jeremy, Ercan-Sencicek, A. Gulhan, DiLullo, Nicholas M., Parikshak, Neelroop N., Stein, Jason L., Walker, Michael F., Ober, Gordon T., Teran, Nicole A., Song, Youeun, El-Fishawy, Paul, Murtha, Ryan C., Choi, Murim, Overton, John D., Bjornson, Robert D., Carriero, Nicholas J., Meyer, Kyle A., Bilguvar, Kaya, Mane, Shrikant M., Šestan, Nenad, Lifton, Richard P., Günel, Murat, Roeder, Kathryn, Geschwind, Daniel H., Devlin, Bernie, State, Matthew W.
Publicado em 2012

De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder

Por Dong, Shan, Walker, Michael F., Carriero, Nicholas J., DiCola, Michael, Willsey, A. Jeremy, Ye, Adam Y., Waqar, Zainulabedin, Gonzalez, Luis E., Overton, John D., Frahm, Stephanie, Keaney, John F., Teran, Nicole A., Dea, Jeanselle, Mandell, Jeffrey D., Bal, Vanessa Hus, Sullivan, Catherine A., DiLullo, Nicholas M., Khalil, Rehab O., Gockley, Jake, Yuksel, Zafer, Sertel, Sinem M., Ercan-Sencicek, A. Gulhan, Gupta, Abha R., Mane, Shrikant M., Sheldon, Michael, Brooks, Andrew I., Roeder, Kathryn, Devlin, Bernie, State, Matthew W., Wei, Liping, Sanders, Stephan J.
Publicado em 2014

Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO

Por Clark, Victoria E., Erson-Omay, E. Zeynep, Serin, Akdes, Yin, Jun, Cotney, Justin, Özduman, Koray, Avşar, Timuçin, Li, Jie, Murray, Phillip B., Henegariu, Octavian, Yilmaz, Saliha, Günel, Jennifer Moliterno, Carrión-Grant, Geneive, Yılmaz, Baran, Grady, Conor, Tanrıkulu, Bahattin, Bakırcıoğlu, Mehmet, Kaymakçalan, Hande, Caglayan, Ahmet Okay, Sencar, Leman, Ceyhun, Emre, Atik, A. Fatih, Bayri, Yaşar, Bai, Hanwen, Kolb, Luis E., Hebert, Ryan, Omay, S. Bulent, Mishra-Gorur, Ketu, Choi, Murim, Overton, John D., Holland, Eric C., Mane, Shrikant, State, Matthew W., Bilgüvar, Kaya, Baehring, Joachim M., Gutin, Philip H., Piepmeier, Joseph M., Vortmeyer, Alexander, Brennan, Cameron W., Pamir, M. Necmettin, Kılıç, Türker, Lifton, Richard P., Noonan, James P., Yasuno, Katsuhito, Günel, Murat
Publicado no Science (2013)