Genomics of type 2 diabetes mellitus: implications for the clinician von Florez, Jose C, Stolerman, Elliot S

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RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb‐girdle muscular dystrophy... von Washington, Camerun, Stolerman, Elliot S., Cooley‐Coleman, Jessica A., Jones, Julie R., Chen‐Deutsch, Xiangwen

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Haplotype Structure of the ENPP1 Gene and Nominal Association of the K121Q Missense Single Nucleotide Polymorphism With Glycemic Traits in the Framingham Heart Study von STOLERMAN, Elliot S, MANNING, Alisa K, MCATEER, Jarred B, DUPUIS, Josée, FOX, Caroline S, CUPPLES, L. Adrienne, MEIGS, James B, FLOREZ, Jose C

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Clinical case report: mosaic ANK3 pathogenic variant in a patient with autism spectrum disorder and neurodevelopmental delay von Fang, Xiaolan, Fee, Timothy, Davis, Jessica, Stolerman, Elliot S, Caylor, Raymond C

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CHD8 intragenic deletion associated with autism spectrum disorder von Stolerman, Elliot S, Smith, Brooke, Chaubey, Alka, Jones, Julie R

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Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features von Stolerman, Elliot S., Francisco, Elizabeth, Stallworth, Jennifer L., Jones, Julie R., Monaghan, Kristin G., Keller‐Ramey, Jennifer, Person, Richard, Wentzensen, Ingrid M., McWalter, Kirsty, Keren, Boris, Heron, Benedicte, Nava, Caroline, Heron, Delphine, Kim, Katherine, Burton, Barbara, Al‐Musafri, Fatima, O'Grady, Lauren, Sahai, Inderneel, Escobar, Luis F., Meuwissen, Marije, Reyniers, Edwin, Kooy, Frank, Lacassie, Yves, Gunay‐Aygun, Meral, Schatz, Krista Sondergaard, Hochstenbach, Ron, Zwijnenburg, Petra J.G., Waisfisz, Quinten, Slegtenhorst, Marjon, Mancini, Grazia M.S., Louie, Raymond J.

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De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder von Sleyp, Yoeri, Valenzuela, Irene, Accogli, Andrea, Ballon, Katleen, Ben-Zeev, Bruria, Berkovic, Samuel F., Broly, Martin, Callaerts, Patrick, Caylor, Raymond C., Charles, Perrine, Chatron, Nicolas, Cohen, Lior, Coppola, Antonietta, Cordeiro, Dawn, Cuccurullo, Claudia, Cuscó, Ivon, Janette diMonda, Duran-Romaña, Ramon, Ekhilevitch, Nina, Fernández-Alvarez, Paula, Gordon, Christopher T., Isidor, Bertrand, Keren, Boris, Lesca, Gaetan, Maljaars, Jarymke, Mercimek-Andrews, Saadet, Morrow, Michelle M., Muir, Alison M., Rousseau, Frederic, Salpietro, Vincenzo, Scheffer, Ingrid E., Schnur, Rhonda E., Schymkowitz, Joost, Souche, Erika, Steyaert, Jean, Stolerman, Elliot S., Vengoechea, Jaime, Ville, Dorothée, Washington, Camerun, Weiss, Karin, Zaid, Rinat, Sadleir, Lynette G., Mefford, Heather C., Peeters, Hilde

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Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features von Tenorio‐Castaño, Jair Antonio, Arias, Pedro, Fernández‐Jaén, Alberto, Lay‐Son, Guillermo, Bueno‐Lozano, Gloria, Bayat, Allan, Faivre, Laurence, Gallego, Natalia, Ramos, Sergio, Butler, Kameryn M., Morel, Chantal, Hadjiyannakis, Stasia, Lespinasse, James, Tran‐Mau‐Them, Frederic, Santos‐Simarro, Fernando, Pinson, Lucile, Martínez‐Monseny, Antonio Federico, O'Callaghan Cord, María del Mar, Álvarez, Sara, Stolerman, Elliot S., Washington, Camerun, Ramos, Feliciano J., The S. O. G. R. I. Consortium, Lapunzina, Pablo

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Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder von 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

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De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder von Sleyp, Yoeri, Valenzuela, Irene, Accogli, Andrea, Ballon, Katleen, Ben-Zeev, Bruria, Berkovic, Samuel F, Broly, Martin, Callaerts, Patrick, Caylor, Raymond C, Charles, Perrine, Chatron, Nicolas, Cohen, Lior, Coppola, Antonietta, Cordeiro, Dawn, Cuccurullo, Claudia, Cusco, Ivon, Duran-Romana, Ramon, Ekhilevitch, Nina, Fernandez-Alvarez, Paula, Gordon, Christopher T, Isidor, Bertrand, Keren, Boris, Lesca, Gaetan, Maljaars, Jarymke, Mercimek-Andrews, Saadet, Morrow, Michelle M, Muir, Alison M, Rousseau, Frederic, Salpietro, Vincenzo, Scheffer, Ingrid E, Schnur, Rhonda E, Schymkowitz, Joost, Souche, Erika, Steyaert, Jean, Stolerman, Elliot S, Vengoechea, Jaime, Ville, Dorothee, Washington, Camerun, Weiss, Karin, Zaid, Rinat, Sadleir, Lynette G, Mefford, Heather C, Peeters, Hilde

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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 von 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

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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 von 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

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Haplotype Structure of the ENPP1 Gene and Nominal Association of the K121Q Missense Single Nucleotide Polymorphism With Glycemic Traits in the Framingham Heart Study von Stolerman, Elliot S, Manning, Alisa K, McAteer, Jarred B, Dupuis, Josée, Fox, Caroline, Cupples, L. Adrienne, Meigs, James Benjamin, Florez, Jose Carlos

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Increased degradation and altered tissue distribution of cartilage oligomeric matrix protein in human rheumatoid and osteoarthritic cartilage von Di Cesare, P E, Carlson, C S, Stolerman, E S, Hauser, N, Tulli, H, Paulsson, M

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RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb-girdle muscular dystrophy von Washington, Camerun, Stolerman, Elliot S, Cooley-Coleman, Jessica A, Jones, Julie R, Chen-Deutsch, Xiangwen

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Increased degradation and alteered tissue distribution of cartilage oligomeric matrix protein in human rheumatoid and osteoarthritic cartilage von Di Cesare, Paul E., Carlson, Cathy S., Stolerman, Elliot S., Hauser, Nik, Tulli, Hermina, Paulsson, Mats

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

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Common Variants at 10 Genomic Loci Influence Hemoglobin A1C Levels via Glycemic and Nonglycemic Pathways von SORANZO, Nicole, SANNA, Serena, SANDHU, Manjinder S, HEENEY, Matthew M, DEVANEY, Joseph M, REILLY, Muredach P, RICKETTS, Sally L, WHEELER, Eleanor, GIEGER, Christian, RAKE, Dörte, DUPUIS, Josée, BOUATIA-NAJI, Nabila, LANGENBERG, Claudia, PROKOPENKO, Inga, STOLERMAN, Elliot

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

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eP376 - 1q21.1 deletion size and associated clinical presentations von Wang, Jiyong, Hamid, Rasikh, Lyons, Michael, Champaigne, Neena, Eloise, Prijoles, Everman, David, Rogers, Curtis, Stolerman, Elliot, Clarkson, Katie, Cathey, Sara, Hilton, Benjamin, DuPont, Barbara

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