Arrhythmogenic Ventricular Cardiomyopathy von Rawal, Aranyak S., VanCleave, Tara, Yedlapati, Neeraja, Saffitz, Jeffery E., Craigen, William James, Jefferies, John L.

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Arrhythmogenic Ventricular Cardiomyopathy: Challenges With Complex Genetics and Variable Phenotypes von Rawal, Aranyak S., VanCleave, Tara, Yedlapati, Neeraja, Saffitz, Jeffery E., Craigen, William James, Jefferies, John L.

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Arrhythmogenic Ventricular Cardiomyopathy: Challenges With Complex Genetics and Variable Phenotypes von Rawal, Aranyak S, VanCleave, Tara, Yedlapati, Neeraja, Saffitz, Jeffery E, Craigen, William James, Jefferies, John L

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Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing von Yang, Yaping, Muzny, Donna M, Xia, Fan, Niu, Zhiyv, Person, Richard, Ding, Yan, Ward, Patricia, Braxton, Alicia, Wang, Min, Buhay, Christian, Veeraraghavan, Narayanan, Hawes, Alicia, Chiang, Theodore, Leduc, Magalie, Beuten, Joke, Zhang, Jing, He, Weimin, Scull, Jennifer, Willis, Alecia, Landsverk, Megan, Craigen, William J, Bekheirnia, Mir Reza, Stray-Pedersen, Asbjorg, Liu, Pengfei, Wen, Shu, Alcaraz, Wendy, Cui, Hong, Walkiewicz, Magdalena, Reid, Jeffrey, Bainbridge, Matthew, Patel, Ankita, Boerwinkle, Eric, Beaudet, Arthur L, Lupski, James R, Plon, Sharon E, Gibbs, Richard A, Eng, Christine M

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Novel anti–B-cell maturation antigen antibody-drug conjugate (GSK2857916) selectively induces killing of multiple myeloma von Tai, Yu-Tzu, Mayes, Patrick A., Acharya, Chirag, Zhong, Mike Y., Cea, Michele, Cagnetta, Antonia, Craigen, Jenny, Yates, John, Gliddon, Louise, Fieles, William, Hoang, Bao, Tunstead, James, Christie, Amanda L., Kung, Andrew L., Richardson, Paul, Munshi, Nikhil C., Anderson, Kenneth C.

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TSPO interacts with VDAC1 and triggers a ROS-mediated inhibition of mitochondrial quality control von Gatliff, Jemma, East, Daniel, Crosby, James, Abeti, Rosella, Harvey, Robert, Craigen, William, Parker, Peter, Campanella, Michelangelo

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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size von Shinawi, Marwan, Liu, Pengfei, Kang, Sung-Hae L, Shen, Joseph, Belmont, John W, Scott, Daryl A, Probst, Frank J, Craigen, William J, Graham, Brett H, Pursley, Amber, Clark, Gary, Lee, Jennifer, Proud, Monica, Stocco, Amber, Rodriguez, Diana L, Kozel, Beth A, Sparagana, Steven, Roeder, Elizabeth R, McGrew, Susan G, Kurczynski, Thaddeus W, Allison, Leslie J, Amato, Stephen, Savage, Sarah, Patel, Ankita, Stankiewicz, Pawel, Beaudet, Arthur L, Cheung, Sau Wai, Lupski, James R

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Novel Genetic Triggers and Genotype–Phenotype Correlations in Patients With Left Ventricular Noncompaction von Miszalski-Jamka, Karol, Jefferies, John L, Mazur, Wojciech, Głowacki, Jan, Hu, Jianhong, Lazar, Monika, Gibbs, Richard A, Liczko, Jacek, Kłyś, Jan, Venner, Eric, Muzny, Donna M, Rycaj, Jarosław, Białkowski, Jacek, Kluczewska, Ewa, Kalarus, Zbigniew, Jhangiani, Shalini, Al-Khalidi, Hussein, Kukulski, Tomasz, Lupski, James R, Craigen, William J, Bainbridge, Matthew N

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Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males von del Gaudio, Daniela, Fang, Ping, Scaglia, Fernando, Ward, Patricia A, Craigen, William J, Glaze, Daniel G, Neul, Jeffrey L, Patel, Ankita, Lee, Jennifer A, Irons, Mira, Berry, Susan A, Pursley, Amber A, Grebe, Theresa A, Freedenberg, Debra, Martin, Rick A, Hsich, Gary E, Khera, Jena R, Friedman, Neil R, Zoghbi, Huda Y, Eng, Christine M, Lupski, James R, Beaudet, Arthur L, Cheung, Sau Wai, Roa, Benjamin B

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Evaluation of B cell maturation antigen as a target for antibody drug conjugate mediated cytotoxicity in multiple myeloma von Lee, Lydia, Bounds, Danton, Paterson, Jennifer, Herledan, Gaelle, Sully, Katherine, Seestaller‐Wehr, Laura M., Fieles, William E., Tunstead, James, McCahon, Lee, Germaschewski, Fiona M., Mayes, Patrick A, Craigen, Jenny L., Rodriguez‐Justo, Manuel, Yong, Kwee L.

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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder von Küry, Sébastien, Besnard, Thomas, Ebstein, Frédéric, Khan, Tahir N., Gambin, Tomasz, Douglas, Jessica, Bacino, Carlos A., Craigen, William J., Sanders, Stephan J., Lehmann, Andrea, Latypova, Xénia, Khan, Kamal, Pacault, Mathilde, Sacharow, Stephanie, Glaser, Kimberly, Bieth, Eric, Perrin-Sabourin, Laurence, Jacquemont, Marie-Line, Cho, Megan T., Roeder, Elizabeth, Denommé-Pichon, Anne-Sophie, Monaghan, Kristin G., Yuan, Bo, Xia, Fan, Simon, Sylvain, Bonneau, Dominique, Parent, Philippe, Gilbert-Dussardier, Brigitte, Odent, Sylvie, Toutain, Annick, Pasquier, Laurent, Barbouth, Deborah, Shaw, Chad A., Patel, Ankita, Smith, Janice L., Bi, Weimin, Schmitt, Sébastien, Deb, Wallid, Nizon, Mathilde, Mercier, Sandra, Vincent, Marie, Rooryck, Caroline, Malan, Valérie, Briceño, Ignacio, Gómez, Alberto, Nugent, Kimberly M., Gibson, James B., Cogné, Benjamin, Lupski, James R., Stessman, Holly A.F., Eichler, Evan E., Retterer, Kyle, Yang, Yaping, Redon, Richard, Katsanis, Nicholas, Rosenfeld, Jill A., Kloetzel, Peter-Michael, Golzio, Christelle, Bézieau, Stéphane, Stankiewicz, Paweł, Isidor, Bertrand

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Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene von Bekheirnia, Mir Reza, Bekheirnia, Nasim, Bainbridge, Matthew N., Gu, Shen, Coban Akdemir, Zeynep Hande, Gambin, Tomek, Janzen, Nicolette K., Jhangiani, Shalini N., Muzny, Donna M., Michael, Mini, Brewer, Eileen D., Elenberg, Ewa, Kale, Arundhati S., Riley, Alyssa A., Swartz, Sarah J., Scott, Daryl A., Yang, Yaping, Srivaths, Poyyapakkam R., Wenderfer, Scott E., Bodurtha, Joann, Applegate, Carolyn D., Velinov, Milen, Myers, Angela, Borovik, Lior, Craigen, William J., Hanchard, Neil A., Rosenfeld, Jill A., Lewis, Richard Alan, Gonzales, Edmond T., Gibbs, Richard A., Belmont, John W., Roth, David R., Eng, Christine, Braun, Michael C., Lupski, James R., Lamb, Dolores J.

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Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States von Miller, Marcus J., Burrage, Lindsay C., Gibson, James B., Strenk, Meghan E., Lose, Edward J., Bick, David P., Elsea, Sarah H., Sutton, V. Reid, Sun, Qin, Graham, Brett H., Craigen, William J., Zhang, Victor Wei, Wong, Lee-Jun C.

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Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome von Lalani, Seema R., Zhang, Jing, Schaaf, Christian P., Brown, Chester W., Magoulas, Pilar, Tsai, Anne Chun-Hui, El-Gharbawy, Areeg, Wierenga, Klaas J., Bartholomew, Dennis, Fong, Chin-To, Barbaro-Dieber, Tina, Kukolich, Mary K., Burrage, Lindsay C., Austin, Elise, Keller, Kory, Pastore, Matthew, Fernandez, Fabio, Lotze, Timothy, Wilfong, Angus, Purcarin, Gabriela, Zhu, Wenmiao, Craigen, William J., McGuire, Marianne, Jain, Mahim, Cooney, Erin, Azamian, Mahshid, Bainbridge, Matthew N., Muzny, Donna M., Boerwinkle, Eric, Person, Richard E., Niu, Zhiyv, Eng, Christine M., Lupski, James R., Gibbs, Richard A., Beaudet, Arthur L., Yang, Yaping, Wang, Meng C., Xia, Fan

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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder von Küry, Sébastien, Besnard, Thomas, Ebstein, Frédéric, Khan, Tahir N., Gambin, Tomasz, Douglas, Jessica, Bacino, Carlos A., Craigen, William J., Sanders, Stephan J., Lehmann, Andrea, Latypova, Xénia, Khan, Kamal, Pacault, Mathilde, Sacharow, Stephanie, Glaser, Kimberly, Bieth, Eric, Perrin-Sabourin, Laurence, Jacquemont, Marie-Line, Cho, Megan T., Roeder, Elizabeth, Denommé-Pichon, Anne-Sophie, Monaghan, Kristin G., Yuan, Bo, Xia, Fan, Simon, Sylvain, Bonneau, Dominique, Parent, Philippe, Gilbert-Dussardier, Brigitte, Odent, Sylvie, Toutain, Annick, Pasquier, Laurent, Barbouth, Deborah, Shaw, Chad A., Patel, Ankita, Smith, Janice L., Bi, Weimin, Schmitt, Sébastien, Deb, Wallid, Nizon, Mathilde, Mercier, Sandra, Vincent, Marie, Rooryck, Caroline, Malan, Valérie, Briceño, Ignacio, Gómez, Alberto, Nugent, Kimberly M., Gibson, James B., Cogné, Benjamin, Lupski, James R., Stessman, Holly A.F., Eichler, Evan E., Retterer, Kyle, Yang, Yaping, Redon, Richard, Katsanis, Nicholas, Rosenfeld, Jill A., Kloetzel, Peter-Michael, Golzio, Christelle, Bézieau, Stéphane, Stankiewicz, Paweł, Isidor, Bertrand

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The Rare and Atypical Diabetes Network (RADIANT) Study: Design and Early Results von Balasubramanyam, Ashok, Redondo, Maria J., Craigen, William, Dai, Hongzheng, Davis, Ansley, Desai, Dimpi, Dussan, Monica, Faruqi, Jordana, Gaba, Ruchi, Gonzalez, Iliana, Jhangiani, Shalini, Kubota-Mishra, Elizabeth, Liu, Pengfei, Murdock, David, Posey, Jennifer, Ram, Nalini, Sabo, Aniko, Sisley, Stephanie, Tosur, Mustafa, Venner, Eric, Astudillo, Marcela, Cardenas, Adriana, Fang, Mary Ann, Hattery, Erica, Ideouzu, Adrienne, Jimenez, Julizza, Kikani, Nupur, Montes, Graciela, O’Brien, Nikalina G., Wong, Lee-Jun, Goland, Robin, Chung, Wendy K., Evans, Anabel, Gandica, Rachelle, Leibel, Rudolph, Mofford, Kaisha, Pring, James, Evans-Molina, Carmella, Anwar, Farrah, Monaco, Gabriela, Neyman, Anna, Saeed, Zeb, Sims, Emily, Spall, Maria, Hernandez-Perez, Marimar, Mather, Kieren, Moors, Kelly, Udler, Miriam S., Florez, Jose C., Calverley, Melissa, Chen, Victoria, Chu, Kathy, Cromer, Sara, Deutsch, Aaron, Faciebene, Mariella, Greaux, Evelyn, Koren, Dorit, Kreienkamp, Raymond, Larkin, Mary, Marshall, William, Ricevuto, Pam, Sabean, Amy, Thangthaeng, Nopporn, Han, Christopher, Sherwood, Jordan, Billings, Liana K., Banerji, Mary Ann, Bally, Kylnt, Brown, Necole, Ji, Beisi, Soni, Lina, Lee, Melissa, Abrams, Jennifer, Thomas, Lorraine, Skiwiersky, Samara, Philipson, Louis H., Greeley, Siri Atma W., Bell, Graeme, Banogon, Shanna, Desai, Jui, Ehrmann, David, Letourneau-Freiberg, Lisa R., Naylor, Rochelle N., Papciak, Erin, Friedman Ross, Lainie, Sundaresan, Manu, Bender, Colleen, Tian, Persephone, Rasouli, Neda, Kashkouli, Mohsen Bahmani, Baker, Chelsea, Her, Andrew, King, Courtney, Pyreddy, Avinash, Singh, Vatsala, Barklow, Jules, Farhat, Noosha, Lorch, Rebecca, Odean, Carter, Schleis, Gregory

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Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148 von DHARMADHIKARI, Avinash V, KANG, Sung-Hae L, VINSON, Sherry S, WILFONG, Angus A, REIMSCHISEL, Tyler E, CRAIGEN, William J, PATEL, Ankita, WEIMIN BI, LUPSKI, James R, BELMONT, John, SAU WAI CHEUNG, STANKIEWICZ, Pawel, SZAFRANSKI, Przemyslaw, PERSON, Richard E, SAMPATH, Srirangan, PRAKASH, Siddharth K, BADER, Patricia I, PHILLIPS, John A, HANNIG, Vickie, WILLIAMS, Misti

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Identification of atypical pediatric diabetes mellitus cases using electronic medical records von Billings, Liana K, Kreienkamp, Raymond, Tosur, Mustafa, Liu, Pengfei, Migacz, Iliana, Posey, Jennifer, Ram, Nalini, Siller, Alejandro, Venner, Eric, Astudillo, Marcela, Dai, Hongzheng, Desai, Dimpi, Ideouzu, Adrienne, Montes, Graciela, Wong, Lee-Jun, Chung, Wendy K, Leibel, Rudolph, Lonier, Jacqueline, Evans-Molina, Carmella, Mckibben, Angelica, Spall, Maria, Hernandez-Perez, Marimar, Mather, Kieren, Udler, Miriam S, Fan, Melton, Hernandez, Cristinia Fernandez, Kreienkamp, Raymond, Ricevuto, Pam, Chu, Kathy, Sabean, Amy, Billings, Liana K, Soni, Lina, Ji, Beisi, Philipson, Louis H, Bell, Graeme, Desai, Jui, Dye, Anisa, Ehrmann, David, Lockwood, Carlin, Oppenheimer, Kaylee, Papciak, Erin, Rodriguez, Karen, Wu, Chelsea, Bender, Colleen, Tian, Persephone, Rasouli, Neda, Chelsea Baker, PA-C, King, Courtney, Rezaei, Marjan, Singh, Vatsala, Kashkouli, Mohsen Bahmani, Barklow, Jules, Farhat, Noosha, Lorch, Rebecca, Odean, Carter, Underkofler, Chantal, Miller, Ryan, Silver, Kristi, Whitlatch, Hilary, Nwaba, Devon, Oral, Elif A, Broome, David, Gregg, Brigid, Grigoryan, Seda, Ince, Melda Sonmez, Neidert, Adam, Richison, Carman, Donahue, Cassandra, Fraser, Rachael, Ghorbani, Tahereh, Kass, Alex, Morba, Catherine, Adams, Sarah, Armstrong, Chase, Kirkman, Sue, Hirsch, Irl B, Kahn, Steven E, Sameshima, Lori, Pihoker, Catherine, Loots, Beth, Niswender, Kevin, Gregory, Justin, Smith, Jordan, Brown, Cris, Brune, Joel, McGill, Janet, Campbell, Toko, Adusumalli, Rajesh, Gomes, Joseph, Perez-Laras, Francisco, Remedios, Cassandra L, Ruiz, Pablo, Sulman, Noah, Eberhard, Christopher, Brandes, MacKenzie, Koesterer, Ryan, Akolkar, Beena, Lee, Christine, Carey, David J, Newgard, Christopher B

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Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing von Yang, Yaping, Muzny, Donna M, Xia, Fan, Niu, Zhiyv, Person, Richard, Ding, Yan, Ward, Patricia, Braxton, Alicia, Wang, Min, Buhay, Christian, Veeraraghavan, Narayanan, Hawes, Alicia, Chiang, Theodore, Leduc, Magalie, Beuten, Joke, Zhang, Jing, He, Weimin, Scull, Jennifer, Willis, Alecia, Landsverk, Megan, Craigen, William J, Bekheirnia, Mir Reza, Stray-Pedersen, Asbjorg, Liu, Pengfei, Wen, Shu, Alcaraz, Wendy, Cui, Hong, Walkiewicz, Magdalena, Reid, Jeffrey, Bainbridge, Matthew, Patel, Ankita, Boerwinkle, Eric, Beaudet, Arthur L, Lupski, James R, Plon, Sharon E, Gibbs, Richard A, Eng, Christine M

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Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients with Left Ventricular Non-Compaction von Miszalski-Jamka, Karol, Jefferies, John L., Mazur, Wojciech, Głowacki, Jan, Hu, Jianhong, Lazar, Monika, Gibbs, Richard A., Liczko, Jacek, Kłyś, Jan, Venner, Eric, Muzny, Donna M., Rycaj, Jarosław, Białkowski, Jacek, Kluczewska, Ewa, Kalarus, Zbigniew, Jhangiani, Shalini, Al-Khalidi, Hussein, Kukulski, Tomasz, Lupski, James R., Craigen, William J., Bainbridge, Matthew N.

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