Haplotype Structure of the ENPP1 Gene and Nominal Association of the K121Q Missense Single Nucleotide Polymorphism With Glycemic Traits in the Framingham Heart Study

بواسطة Stolerman, Elliot S., Manning, Alisa K., McAteer, Jarred B., Dupuis, Josée, Fox, Caroline S., Cupples, L. Adrienne, Meigs, James B., Florez, Jose C.
منشور في 2008

Common Variants at 10 Genomic Loci Influence Hemoglobin A(1C) Levels via Glycemic and Nonglycemic Pathways

بواسطة Soranzo, Nicole, Sanna, Serena, Wheeler, Eleanor, Gieger, Christian, Radke, Dörte, Dupuis, Josée, Bouatia-Naji, Nabila, Langenberg, Claudia, Prokopenko, Inga, Stolerman, Elliot, Sandhu, Manjinder S., Heeney, Matthew M., Devaney, Joseph M., Reilly, Muredach P., Ricketts, Sally L.
منشور في 2010

Branched chain and aromatic amino acids change acutely following two medical therapies for type 2 diabetes mellitus

بواسطة Walford, Geoffrey A., Davis, Jaclyn, Warner, A. Sofia, Ackerman, Rachel J., Billings, Liana K., Chamarthi, Bindu, Fanelli, Rebecca R., Hernandez, Alicia M., Huang, Chunmei, Khan, Sabina Q., Littleton, Katherine R., Lo, Janet, McCarthy, Rita M., Rhee, Eugene P., Deik, Amy, Stolerman, Elliot, Taylor, Andrew, Hudson, Margo S., Wang, Thomas J., Altshuler, David, Grant, Richard W., Clish, Clary B., Gerszten, Robert E., Florez, Jose C.
منشور في 2013

The Study to Understand the Genetics of the Acute Response to Metformin and Glipizide in Humans (SUGAR-MGH): Design of a pharmacogenetic Resource for Type 2 Diabetes

بواسطة Walford, Geoffrey A., Colomo, Natalia, Todd, Jennifer N., Billings, Liana K., Fernandez, Marlene, Chamarthi, Bindu, Warner, A. Sofia, Davis, Jaclyn, Littleton, Katherine R., Hernandez, Alicia M., Fanelli, Rebecca R., Lanier, Amelia, Barbato, Corinne, Ackerman, Rachel J., Khan, Sabina Q., Bui, Rosa, Garber, Laurel, Stolerman, Elliot S., Moore, Allan F., Huang, Chunmei, Kaur, Varinderpal, Harden, Maegan, Taylor, Andrew, Chen, Ling, Manning, Alisa K., Huang, Paul, Wexler, Deborah, McCarthy, Rita M., Lo, Janet, Thomas, Melissa K., Grant, Richard W., Goldfine, Allison, Hudson, Margo S., Florez, Jose C.
الحاوية / القاعدة PLoS One (2015)

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms

بواسطة Barish, Scott, Barakat, Tahsin Stefan, Michel, Brittany C., Mashtalir, Nazar, Phillips, Jennifer B., Valencia, Alfredo M., Ugur, Berrak, Wegner, Jeremy, Scott, Tiana M., Bostwick, Brett, Murdock, David R., Dai, Hongzheng, Perenthaler, Elena, Nikoncuk, Anita, van Slegtenhorst, Marjon, Brooks, Alice S., Keren, Boris, Nava, Caroline, Mignot, Cyril, Douglas, Jessica, Rodan, Lance, Nowak, Catherine, Ellard, Sian, Stals, Karen, Lynch, Sally Ann, Faoucher, Marie, Lesca, Gaetan, Edery, Patrick, Engleman, Kendra L., Zhou, Dihong, Thiffault, Isabelle, Herriges, John, Gass, Jennifer, Louie, Raymond J., Stolerman, Elliot, Washington, Camerun, Vetrini, Francesco, Otsubo, Aiko, Pratt, Victoria M., Conboy, Erin, Treat, Kayla, Shannon, Nora, Camacho, Jose, Wakeling, Emma, Yuan, Bo, Chen, Chun-An, Rosenfeld, Jill A., Westerfield, Monte, Wangler, Michael, Yamamoto, Shinya, Kadoch, Cigall, Scott, Daryl A., Bellen, Hugo J.
الحاوية / القاعدة Am J Hum Genet (2020)

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

بواسطة Kour, Sukhleen, Rajan, Deepa S., Fortuna, Tyler R., Anderson, Eric N., Ward, Caroline, Lee, Youngha, Lee, Sangmoon, Shin, Yong Beom, Chae, Jong-Hee, Choi, Murim, Siquier, Karine, Cantagrel, Vincent, Amiel, Jeanne, Stolerman, Elliot S., Barnett, Sarah S., Cousin, Margot A., Castro, Diana, McDonald, Kimberly, Kirmse, Brian, Nemeth, Andrea H., Rajasundaram, Dhivyaa, Innes, A. Micheil, Lynch, Danielle, Frosk, Patrick, Collins, Abigail, Gibbons, Melissa, Yang, Michele, Desguerre, Isabelle, Boddaert, Nathalie, Gitiaux, Cyril, Rydning, Siri Lynne, Selmer, Kaja K., Urreizti, Roser, Garcia-Oguiza, Alberto, Osorio, Andrés Nascimento, Verdura, Edgard, Pujol, Aurora, McCurry, Hannah R., Landers, John E., Agnihotri, Sameer, Andriescu, E. Corina, Moody, Shade B., Phornphutkul, Chanika, Sacoto, Maria J. Guillen, Begtrup, Amber, Houlden, Henry, Kirschner, Janbernd, Schorling, David, Rudnik-Schöneborn, Sabine, Strom, Tim M., Leiz, Steffen, Juliette, Kali, Richardson, Randal, Yang, Ying, Zhang, Yuehua, Wang, Minghui, Wang, Jia, Wang, Xiaodong, Platzer, Konrad, Donkervoort, Sandra, Bönnemann, Carsten G., Wagner, Matias, Issa, Mahmoud Y., Elbendary, Hasnaa M., Stanley, Valentina, Maroofian, Reza, Gleeson, Joseph G., Zaki, Maha S., Senderek, Jan, Pandey, Udai Bhan
الحاوية / القاعدة Nat Commun (2021)

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

بواسطة Mak, Christopher C Y, Doherty, Dan, Lin, Angela E, Vegas, Nancy, Cho, Megan T, Viot, Géraldine, Dimartino, Clémantine, Weisfeld-Adams, James D, Lessel, Davor, Joss, Shelagh, Li, Chumei, Gonzaga-Jauregui, Claudia, Zarate, Yuri A, Ehmke, Nadja, Horn, Denise, Troyer, Caitlin, Kant, Sarina G, Lee, Youngha, Ishak, Gisele E, Leung, Gordon, Barone Pritchard, Amanda, Yang, Sandra, Bend, Eric G, Filippini, Francesca, Roadhouse, Chelsea, Lebrun, Nicolas, Mehaffey, Michele G, Martin, Pierre-Marie, Apple, Benjamin, Millan, Francisca, Puk, Oliver, Hoffer, Mariette J V, Henderson, Lindsay B, McGowan, Ruth, Wentzensen, Ingrid M, Pei, Steven, Zahir, Farah R, Yu, Mullin, Gibson, William T, Seman, Ann, Steeves, Marcie, Murrell, Jill R, Luettgen, Sabine, Francisco, Elizabeth, Strom, Tim M, Amlie-Wolf, Louise, Kaindl, Angela M, Wilson, William G, Halbach, Sara, Basel-Salmon, Lina, Lev-El, Noa, Denecke, Jonas, Vissers, Lisenka E L M, Radtke, Kelly, Chelly, Jamel, Zackai, Elaine, Friedman, Jan M, Bamshad, Michael J, Nickerson, Deborah A, Reid, Russell R, Devriendt, Koenraad, Chae, Jong-Hee, Stolerman, Elliot, McDougall, Carey, Powis, Zöe, Bienvenu, Thierry, Tan, Tiong Y, Orenstein, Naama, Dobyns, William B, Shieh, Joseph T, Choi, Murim, Waggoner, Darrel, Gripp, Karen W, Parker, Michael J, Stoler, Joan, Lyonnet, Stanislas, Cormier-Daire, Valérie, Viskochil, David, Hoffman, Trevor L, Amiel, Jeanne, Chung, Brian H Y, Gordon, Christopher T
الحاوية / القاعدة Brain (2020)