Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder

Por Steinberg, Karyn Meltz, Ramachandran, Dhanya, Patel, Viren C, Shetty, Amol C, Cutler, David J, Zwick, Michael E
Publicado em 2012

Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder

Por Mondal, Kajari, Ramachandran, Dhanya, Patel, Viren C., Hagen, Katie R., Bose, Promita, Cutler, David J., Zwick, Michael E.
Publicado em 2012

A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic Galactosemia

Por Tran, Thanh-Thanh (Claire) V., Liu, Ying, Zwick, Michael E., Ramachandran, Dhanya, Cutler, David J., Huang, Xiaoping, Berry, Gerard T., Fridovich-Keil, Judith L.
Publicado no JIMD Rep (2015)

CRISPR-Mediated Depletion of Ribosomal RNA-Derived DNA from RNA-Seq NGS Libraries

Por Siddique, Azeem, Suckow, Gaia, Head, Steve, Ordoukhanian, Phillip, Sussman, Hallie, Ramachandran, Dhanya, Homer, Nils, Bajena, Jorge, Brown, Keith, Chittur, Sridar, Knudtson, Kevin, Kermack, Justin
Publicado no J Biomol Tech (2020)

Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay

Por He, Miao, Kratz, Lisa E., Michel, Joshua J., Vallejo, Abbe N., Ferris, Laura, Kelley, Richard I., Hoover, Jacqueline J., Jukic, Drazen, Gibson, K. Michael, Wolfe, Lynne A., Ramachandran, Dhanya, Zwick, Michael E., Vockley, Jerry
Publicado em 2011

Exome Sequencing Identifies a Novel FOXP3 Mutation in a 2-Generation Family With Inflammatory Bowel Disease

Por Okou, David T., Mondal, Kajari, Faubion, William A., Kobrynski, Lisa J., Denson, Lee A., Mulle, Jennifer G., Ramachandran, Dhanya, Xiong, Yuning, Svingen, Phyllis, Patel, Viren, Bose, Promita, Waters, Jon P., Prahalad, Sampath, Cutler, David J., Zwick, Michael E., Kugathasan, Subra
Publicado no J Pediatr Gastroenterol Nutr (2014)

Contribution of Copy Number Variation to Down Syndrome-associated Atrioventricular Septal Defects

Por Ramachandran, Dhanya, Mulle, Jennifer G., Locke, Adam E., Bean, Lora J.H., Rosser, Tracie C., Bose, Promita, Dooley, Kenneth J., Cua, Clifford L., Capone, George T., Reeves, Roger H., Maslen, Cheryl L., Cutler, David J., Sherman, Stephanie L., Zwick, Michael E.
Publicado no Genet Med (2014)

Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects

Por Ramachandran, Dhanya, Zeng, Zhen, Locke, Adam E., Mulle, Jennifer G., Bean, Lora J.H., Rosser, Tracie C., Dooley, Kenneth J., Cua, Clifford L., Capone, George T., Reeves, Roger H., Maslen, Cheryl L., Cutler, David J., Feingold, Eleanor, Sherman, Stephanie L., Zwick, Michael E.
Publicado no G3 (Bethesda) (2015)

Dissecting Allele Architecture of Early Onset IBD Using High-Density Genotyping

Por Cutler, David J., Zwick, Michael E., Okou, David T., Prahalad, Sampath, Walters, Thomas, Guthery, Stephen L., Dubinsky, Marla, Baldassano, Robert, Crandall, Wallace V., Rosh, Joel, Markowitz, James, Stephens, Michael, Kellermayer, Richard, Pfefferkorn, Marian, Heyman, Melvin B., LeLeiko, Neal, Mack, David, Moulton, Dedrick, Kappelman, Michael D., Kumar, Archana, Prince, Jarod, Bose, Promita, Mondal, Kajari, Ramachandran, Dhanya, Bohnsack, John F., Griffiths, Anne M., Haberman, Yael, Essers, Jonah, Thompson, Susan D., Aronow, Bruce, Keljo, David J., Hyams, Jeffrey S., Denson, Lee A., Kugathasan, Subra
Publicado no PLoS One (2015)

A network analysis to identify mediators of germline-driven differences in breast cancer prognosis

Por Escala-Garcia, Maria, Abraham, Jean, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Ashworth, Alan, Auer, Paul L., Auvinen, Päivi, Beckmann, Matthias W., Beesley, Jonathan, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Blot, William, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Børresen-Dale, Anne-Lise, Brauch, Hiltrud, Brenner, Hermann, Brucker, Sara Y., Burwinkel, Barbara, Caldas, Carlos, Canzian, Federico, Chang-Claude, Jenny, Chanock, Stephen J., Chin, Suet-Feung, Clarke, Christine L., Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Daly, Mary B., Dennis, Joe, Devilee, Peter, Dunn, Janet A., Dunning, Alison M., Dwek, Miriam, Earl, Helena M., Eccles, Diana M., Eliassen, A. Heather, Ellberg, Carolina, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, Gago-Dominguez, Manuela, Gapstur, Susan M., García-Closas, Montserrat, García-Sáenz, José A., Gaudet, Mia M., George, Angela, Giles, Graham G., Goldgar, David E., González-Neira, Anna, Grip, Mervi, Guénel, Pascal, Guo, Qi, Haiman, Christopher A., Håkansson, Niclas, Hamann, Ute, Harrington, Patricia A., Hiller, Louise, Hooning, Maartje J., Hopper, John L., Howell, Anthony, Huang, Chiun-Sheng, Huang, Guanmengqian, Hunter, David J., Jakubowska, Anna, John, Esther M., Kaaks, Rudolf, Kapoor, Pooja Middha, Keeman, Renske, Kitahara, Cari M., Koppert, Linetta B., Kraft, Peter, Kristensen, Vessela N., Lambrechts, Diether, Le Marchand, Loic, Lejbkowicz, Flavio, Lindblom, Annika, Lubiński, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Maurer, Tabea, Mavroudis, Dimitrios, Meindl, Alfons, Milne, Roger L., Mulligan, Anna Marie, Neuhausen, Susan L., Nevanlinna, Heli, Newman, William G., Olshan, Andrew F., Olson, Janet E., Olsson, Håkan, Orr, Nick, Peterlongo, Paolo, Petridis, Christos, Prentice, Ross L., Presneau, Nadege, Punie, Kevin, Ramachandran, Dhanya, Rennert, Gad, Romero, Atocha, Sachchithananthan, Mythily, Saloustros, Emmanouil, Sawyer, Elinor J., Schmutzler, Rita K., Schwentner, Lukas, Scott, Christopher, Simard, Jacques, Sohn, Christof, Southey, Melissa C., Swerdlow, Anthony J., Tamimi, Rulla M., Tapper, William J., Teixeira, Manuel R., Terry, Mary Beth, Thorne, Heather, Tollenaar, Rob A. E. M., Tomlinson, Ian, Troester, Melissa A., Truong, Thérèse, Turnbull, Clare, Vachon, Celine M., van der Kolk, Lizet E., Wang, Qin, Winqvist, Robert, Wolk, Alicja, Yang, Xiaohong R., Ziogas, Argyrios, Pharoah, Paul D. P., Hall, Per, Wessels, Lodewyk F. A., Chenevix-Trench, Georgia, Bader, Gary D., Dörk, Thilo, Easton, Douglas F., Canisius, Sander, Schmidt, Marjanka K.
Publicado no Nat Commun (2020)

Genome-wide association study of germline variants and breast cancer-specific mortality

Por Escala-Garcia, Maria, Guo, Qi, Dörk, Thilo, Canisius, Sander, Keeman, Renske, Dennis, Joe, Beesley, Jonathan, Lecarpentier, Julie, Bolla, Manjeet K., Wang, Qin, Abraham, Jean, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Auer, Paul L., Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bernstein, Leslie, Blomqvist, Carl, Boeckx, Bram, Bojesen, Stig E., Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Brauch, Hiltrud, Brenner, Hermann, Brentnall, Adam, Brinton, Louise, Broberg, Per, Brock, Ian W., Brucker, Sara Y., Burwinkel, Barbara, Caldas, Carlos, Caldés, Trinidad, Campa, Daniele, Canzian, Federico, Carracedo, Angel, Carter, Brian D., Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Chenevix-Trench, Georgia, Cheng, Ting-Yuan David, Chin, Suet-Feung, Clarke, Christine L., Cordina-Duverger, Emilie, Couch, Fergus J., Cox, David G., Cox, Angela, Cross, Simon S., Czene, Kamila, Daly, Mary B., Devilee, Peter, Dunn, Janet A., Dunning, Alison M., Durcan, Lorraine, Dwek, Miriam, Earl, Helena M., Ekici, Arif B., Eliassen, A. Heather, Ellberg, Carolina, Engel, Christoph, Eriksson, Mikael, Evans, D. Gareth, Figueroa, Jonine, Flesch-Janys, Dieter, Flyger, Henrik, Gabrielson, Marike, Gago-Dominguez, Manuela, Galle, Eva, Gapstur, Susan M., García-Closas, Montserrat, García-Sáenz, José A., Gaudet, Mia M., George, Angela, Georgoulias, Vassilios, Giles, Graham G., Glendon, Gord, Goldgar, David E., González-Neira, Anna, Alnæs, Grethe I. Grenaker, Grip, Mervi, Guénel, Pascal, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hall, Per, Hamann, Ute, Hankinson, Susan, Harkness, Elaine F., Harrington, Patricia A., Hart, Steven N., Hartikainen, Jaana M., Hein, Alexander, Hillemanns, Peter, Hiller, Louise, Holleczek, Bernd, Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Howell, Anthony, Huang, Guanmengqian, Humphreys, Keith, Hunter, David J., Janni, Wolfgang, John, Esther M., Jones, Michael E., Jukkola-Vuorinen, Arja, Jung, Audrey, Kaaks, Rudolf, Kabisch, Maria, Kaczmarek, Katarzyna, Kerin, Michael J., Khan, Sofia, Khusnutdinova, Elza, Kiiski, Johanna I., Kitahara, Cari M., Knight, Julia A., Ko, Yon-Dschun, Koppert, Linetta B., Kosma, Veli-Matti, Kraft, Peter, Kristensen, Vessela N., Krüger, Ute, Kühl, Tabea, Lambrechts, Diether, Le Marchand, Loic, Lee, Eunjung, Lejbkowicz, Flavio, Li, Lian, Lindblom, Annika, Lindström, Sara, Linet, Martha, Lissowska, Jolanta, Lo, Wing-Yee, Loibl, Sibylle, Lubiński, Jan, Lux, Michael P., MacInnis, Robert J., Maierthaler, Melanie, Maishman, Tom, Makalic, Enes, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Mavroudis, Dimitrios, McLean, Catriona, Meindl, Alfons, Middha, Pooja, Miller, Nicola, Milne, Roger L., Moreno, Fernando, Mulligan, Anna Marie, Mulot, Claire, Nassir, Rami, Neuhausen, Susan L., Newman, William T., Nielsen, Sune F., Nordestgaard, Børge G., Norman, Aaron, Olsson, Håkan, Orr, Nick, Pankratz, V. Shane, Park-Simon, Tjoung-Won, Perez, Jose I. A., Pérez-Barrios, Clara, Peterlongo, Paolo, Petridis, Christos, Pinchev, Mila, Prajzendanc, Karoliona, Prentice, Ross, Presneau, Nadege, Prokofieva, Darya, Pylkäs, Katri, Rack, Brigitte, Radice, Paolo, Ramachandran, Dhanya, Rennert, Gadi, Rennert, Hedy S., Rhenius, Valerie, Romero, Atocha, Roylance, Rebecca, Saloustros, Emmanouil, Sawyer, Elinor J., Schmidt, Daniel F., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., Schumacher, Fredrick, Schwentner, Lukas, Scott, Rodney J., Scott, Christopher, Seynaeve, Caroline, Shah, Mitul, Simard, Jacques, Smeets, Ann, Sohn, Christof, Southey, Melissa C., Swerdlow, Anthony J., Talhouk, Aline, Tamimi, Rulla M., Tapper, William J., Teixeira, Manuel R., Tengström, Maria, Terry, Mary Beth, Thöne, Kathrin, Tollenaar, Rob A. E. M., Tomlinson, Ian, Torres, Diana, Truong, Thérèse, Turman, Constance, Turnbull, Clare, Ulmer, Hans-Ulrich, Untch, Michael, Vachon, Celine, van Asperen, Christi J., van den Ouweland, Ans M. W., van Veen, Elke M., Wendt, Camilla, Whittemore, Alice S., Willett, Walter, Winqvist, Robert, Wolk, Alicja, Yang, Xiaohong R., Zhang, Yan, Easton, Douglas F., Fasching, Peter A., Nevanlinna, Heli, Eccles, Diana M., Pharoah, Paul D. P., Schmidt, Marjanka K.
Publicado no Br J Cancer (2019)