41 results on '"Chung, Wendy K."'
Search Results
2. De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features
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Burrage, Lindsay C., Heaney, Jason D., Kim, Seon-Young, Lanza, Denise G., Liu, Zhandong, Mao, Dongxue, Milosavljevic, Aleksander, Nagamani, Sandesh C.S., Posey, Jennifer E., Ramamurthy, Uma, Ramanathan, Vivek, Rogers, Jeffrey, Rosenfeld, Jill A., Roth, Matthew, Zahedi Darshoori, Ramin, Pan, Xueyang, Tao, Alice M., Lu, Shenzhao, Ma, Mengqi, Hannan, Shabab B., Slaugh, Rachel, Drewes Williams, Sarah, O'Grady, Lauren, Kanca, Oguz, Person, Richard, Carter, Melissa T., Platzer, Konrad, Schnabel, Franziska, Abou Jamra, Rami, Roberts, Amy E., Newburger, Jane W., Revah-Politi, Anya, Granadillo, Jorge L., Stegmann, Alexander P.A., Sinnema, Margje, Accogli, Andrea, Salpietro, Vincenzo, Capra, Valeria, Ghaloul-Gonzalez, Lina, Brueckner, Martina, Simon, Marleen E.H., Sweetser, David A., Glinton, Kevin E., Kirk, Susan E., Wangler, Michael F., Yamamoto, Shinya, Chung, Wendy K., and Bellen, Hugo J.
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- 2024
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3. Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing
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Linder, Jodell E., Tao, Ran, Chung, Wendy K., Kiryluk, Krzysztof, Liu, Cong, Weng, Chunhua, Connolly, John J., Hakonarson, Hakon, Harr, Margaret, Leppig, Kathleen A., Jarvik, Gail P., Veenstra, David L., Aufox, Sharon, Chisholm, Rex L., Gordon, Adam S., Hoell, Christin, Rasmussen-Torvik, Laura J., Smith, Maureen E., Holm, Ingrid A., Miller, Erin M., Prows, Cynthia A., Elskeally, Omar, Kullo, Iftikhar J., Lee, Christopher, Jose, Sheethal, Manolio, Teri A., Rowley, Robb, Padi-Adjirackor, Nana Addo, Wilmayani, Ni Ketut, City, Brittany, Wei, Wei-Qi, Wiesner, Georgia L., Rahm, Alanna Kulchak, Williams, Janet L., Williams, Marc S., and Peterson, Josh F.
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- 2023
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4. PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects
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Petit, Florence, Longoni, Mauro, Wells, Julie, Maser, Richard S., Bogenschutz, Eric L., Dysart, Matthew J., Contreras, Hannah T.M., Frénois, Frederic, Pober, Barbara R., Clark, Robin D., Giampietro, Philip F., Ropers, Hilger H., Hu, Hao, Loscertales, Maria, Wagner, Richard, Ai, Xingbin, Brand, Harrison, Jourdain, Anne-Sophie, Delrue, Marie-Ange, Gilbert-Dussardier, Brigitte, Devisme, Louise, Keren, Boris, McCulley, David J., Qiao, Lu, Hernan, Rebecca, Wynn, Julia, Scott, Tiana M., Calame, Daniel G., Coban-Akdemir, Zeynep, Hernandez, Patricia, Hernandez-Garcia, Andres, Yonath, Hagith, Lupski, James R., Shen, Yufeng, Chung, Wendy K., Scott, Daryl A., Bult, Carol J., Donahoe, Patricia K., and High, Frances A.
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- 2023
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5. Studying the impact of translational genomic research: Lessons from eMERGE
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Clayton, Ellen Wright, Smith, Maureen E., Anderson, Katherine C., Chung, Wendy K., Connolly, John J., Fullerton, Stephanie M., McGowan, Michelle L., Peterson, Josh F., Prows, Cynthia A., Sabatello, Maya, and Holm, Ingrid A.
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- 2023
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6. OARD: Open annotations for rare diseases and their phenotypes based on real-world data
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Liu, Cong, Ta, Casey N., Havrilla, Jim M., Nestor, Jordan G., Spotnitz, Matthew E., Geneslaw, Andrew S., Hu, Yu, Chung, Wendy K., Wang, Kai, and Weng, Chunhua
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- 2022
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7. Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
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Stephenson, Sarah E.M., Costain, Gregory, Blok, Laura E.R., Silk, Michael A., Nguyen, Thanh Binh, Dong, Xiaomin, Alhuzaimi, Dana E., Dowling, James J., Walker, Susan, Amburgey, Kimberly, Hayeems, Robin Z., Rodan, Lance H., Schwartz, Marc A., Picker, Jonathan, Lynch, Sally A., Gupta, Aditi, Rasmussen, Kristen J., Schimmenti, Lisa A., Klee, Eric W., Niu, Zhiyv, Agre, Katherine E., Chilton, Ilana, Chung, Wendy K., Revah-Politi, Anya, Au, P.Y. Billie, Griffith, Christopher, Racobaldo, Melissa, Raas-Rothschild, Annick, Ben Zeev, Bruria, Barel, Ortal, Moutton, Sebastien, Morice-Picard, Fanny, Carmignac, Virginie, Cornaton, Jenny, Marle, Nathalie, Devinsky, Orrin, Stimach, Chandler, Wechsler, Stephanie Burns, Hainline, Bryan E., Sapp, Katie, Willems, Marjolaine, Bruel, Ange-line, Dias, Kerith-Rae, Evans, Carey-Anne, Roscioli, Tony, Sachdev, Rani, Temple, Suzanna E.L., Zhu, Ying, Baker, Joshua J., Scheffer, Ingrid E., Gardiner, Fiona J., Schneider, Amy L., Muir, Alison M., Mefford, Heather C., Crunk, Amy, Heise, Elizabeth M., Millan, Francisca, Monaghan, Kristin G., Person, Richard, Rhodes, Lindsay, Richards, Sarah, Wentzensen, Ingrid M., Cogné, Benjamin, Isidor, Bertrand, Nizon, Mathilde, Vincent, Marie, Besnard, Thomas, Piton, Amelie, Marcelis, Carlo, Kato, Kohji, Koyama, Norihisa, Ogi, Tomoo, Goh, Elaine Suk-Ying, Richmond, Christopher, Amor, David J., Boyce, Jessica O., Morgan, Angela T., Hildebrand, Michael S., Kaspi, Antony, Bahlo, Melanie, Friðriksdóttir, Rún, Katrínardóttir, Hildigunnur, Sulem, Patrick, Stefánsson, Kári, Björnsson, Hans Tómas, Mandelstam, Simone, Morleo, Manuela, Mariani, Milena, Scala, Marcello, Accogli, Andrea, Torella, Annalaura, Capra, Valeria, Wallis, Mathew, Jansen, Sandra, Waisfisz, Quinten, de Haan, Hugoline, Sadedin, Simon, Lim, Sze Chern, White, Susan M., Ascher, David B., Schenck, Annette, Lockhart, Paul J., Christodoulou, John, and Tan, Tiong Yang
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- 2022
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8. Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures
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Lu, Shenzhao, Hernan, Rebecca, Marcogliese, Paul C., Huang, Yan, Gertler, Tracy S., Akcaboy, Meltem, Liu, Shiyong, Chung, Hyung-lok, Pan, Xueyang, Sun, Xiaoqin, Oguz, Melahat Melek, Oztoprak, Ulkühan, de Baaij, Jeroen H.F., Ivanisevic, Jelena, McGinnis, Erin, Guillen Sacoto, Maria J., Chung, Wendy K., and Bellen, Hugo J.
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- 2022
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9. The genetic architecture of pediatric cardiomyopathy
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Ware, Stephanie M., Bhatnagar, Surbhi, Dexheimer, Phillip J., Wilkinson, James D., Sridhar, Arthi, Fan, Xiao, Shen, Yufeng, Tariq, Muhammad, Schubert, Jeffrey A., Colan, Steven D., Shi, Ling, Canter, Charles E., Hsu, Daphne T., Bansal, Neha, Webber, Steven A., Everitt, Melanie D., Kantor, Paul F., Rossano, Joseph W., Pahl, Elfriede, Rusconi, Paolo, Lee, Teresa M., Towbin, Jeffrey A., Lal, Ashwin K., Chung, Wendy K., Miller, Erin M., Aronow, Bruce, Martin, Lisa J., and Lipshultz, Steven E.
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- 2022
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10. Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene
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Qiao, Lu, Xu, Le, Yu, Lan, Wynn, Julia, Hernan, Rebecca, Zhou, Xueya, Farkouh-Karoleski, Christiana, Krishnan, Usha S., Khlevner, Julie, De, Aliva, Zygmunt, Annette, Crombleholme, Timothy, Lim, Foong-Yen, Needelman, Howard, Cusick, Robert A., Mychaliska, George B., Warner, Brad W., Wagner, Amy J., Danko, Melissa E., Chung, Dai, Potoka, Douglas, Kosiński, Przemyslaw, McCulley, David J., Elfiky, Mahmoud, Azarow, Kenneth, Fialkowski, Elizabeth, Schindel, David, Soffer, Samuel Z., Lyon, Jane B., Zalieckas, Jill M., Vardarajan, Badri N., Aspelund, Gudrun, Duron, Vincent P., High, Frances A., Sun, Xin, Donahoe, Patricia K., Shen, Yufeng, and Chung, Wendy K.
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- 2021
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11. Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy
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Voisin, Norine, Schnur, Rhonda E., Douzgou, Sofia, Hiatt, Susan M., Rustad, Cecilie F., Brown, Natasha J., Earl, Dawn L., Keren, Boris, Levchenko, Olga, Geuer, Sinje, Verheyen, Sarah, Johnson, Diana, Zarate, Yuri A., Hančárová, Miroslava, Amor, David J., Bebin, E. Martina, Blatterer, Jasmin, Brusco, Alfredo, Cappuccio, Gerarda, Charrow, Joel, Chatron, Nicolas, Cooper, Gregory M., Courtin, Thomas, Dadali, Elena, Delafontaine, Julien, Del Giudice, Ennio, Doco, Martine, Douglas, Ganka, Eisenkölbl, Astrid, Funari, Tara, Giannuzzi, Giuliana, Gruber-Sedlmayr, Ursula, Guex, Nicolas, Heron, Delphine, Holla, Øystein L., Hurst, Anna C.E., Juusola, Jane, Kronn, David, Lavrov, Alexander, Lee, Crystle, Lorrain, Séverine, Merckoll, Else, Mikhaleva, Anna, Norman, Jennifer, Pradervand, Sylvain, Prchalová, Darina, Rhodes, Lindsay, Sanders, Victoria R., Sedláček, Zdeněk, Seebacher, Heidelis A., Sellars, Elizabeth A., Sirchia, Fabio, Takenouchi, Toshiki, Tanaka, Akemi J., Taska-Tench, Heidi, Tønne, Elin, Tveten, Kristian, Vitiello, Giuseppina, Vlčková, Markéta, Uehara, Tomoko, Nava, Caroline, Yalcin, Binnaz, Kosaki, Kenjiro, Donnai, Dian, Mundlos, Stefan, Brunetti-Pierri, Nicola, Chung, Wendy K., and Reymond, Alexandre
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- 2021
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12. NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism
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Guo, Hui, Zhang, Qiumeng, Dai, Rujia, Yu, Bin, Hoekzema, Kendra, Tan, Jieqiong, Tan, Senwei, Jia, Xiangbin, Chung, Wendy K., Hernan, Rebecca, Alkuraya, Fowzan S., Alsulaiman, Ahood, Al-Muhaizea, Mohammad A., Lesca, Gaetan, Pons, Linda, Labalme, Audrey, Laux, Linda, Bryant, Emily, Brown, Natasha J., Savva, Elena, Ayres, Samantha, Eratne, Dhamidhu, Peeters, Hilde, Bilan, Frédéric, Letienne-Cejudo, Lucile, Gilbert-Dussardier, Brigitte, Ruiz-Arana, Inge-Lore, Merlini, Jenny Meylan, Boizot, Alexia, Bartoloni, Lucia, Santoni, Federico, Karlowicz, Danielle, McDonald, Marie, Wu, Huidan, Hu, Zhengmao, Chen, Guodong, Ou, Jianjun, Brasch-Andersen, Charlotte, Fagerberg, Christina R., Dreyer, Inken, chun-hui Tsai, Anne, Slegesky, Valerie, McGee, Rose B., Daniels, Brina, Sellars, Elizabeth A., Carpenter, Lori A., Schaefer, Bradley, Sacoto, Maria J. Guillen, Begtrup, Amber, Schnur, Rhonda E., Punj, Sumit, Wentzensen, Ingrid M., Rhodes, Lindsay, Pan, Qian, Bernier, Raphael A., Chen, Chao, Eichler, Evan E., and Xia, Kun
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- 2020
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13. Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum
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Motta, Marialetizia, Pannone, Luca, Pantaleoni, Francesca, Bocchinfuso, Gianfranco, Radio, Francesca Clementina, Cecchetti, Serena, Ciolfi, Andrea, Di Rocco, Martina, Elting, Mariet W., Brilstra, Eva H., Boni, Stefania, Mazzanti, Laura, Tamburrino, Federica, Walsh, Larry, Payne, Katelyn, Fernández-Jaén, Alberto, Ganapathi, Mythily, Chung, Wendy K., Grange, Dorothy K., Dave-Wala, Ashita, Reshmi, Shalini C., Bartholomew, Dennis W., Mouhlas, Danielle, Carpentieri, Giovanna, Bruselles, Alessandro, Pizzi, Simone, Bellacchio, Emanuele, Piceci-Sparascio, Francesca, Lißewski, Christina, Brinkmann, Julia, Waclaw, Ronald R., Waisfisz, Quinten, van Gassen, Koen, Wentzensen, Ingrid M., Morrow, Michelle M., Álvarez, Sara, Martínez-García, Mónica, De Luca, Alessandro, Memo, Luigi, Zampino, Giuseppe, Rossi, Cesare, Seri, Marco, Gelb, Bruce D., Zenker, Martin, Dallapiccola, Bruno, Stella, Lorenzo, Prada, Carlos E., Martinelli, Simone, Flex, Elisabetta, and Tartaglia, Marco
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- 2020
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14. Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures
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Tan, Tiong Yang, Sedmík, Jiří, Fitzgerald, Mark P., Halevy, Rivka Sukenik, Keegan, Liam P., Helbig, Ingo, Basel-Salmon, Lina, Cohen, Lior, Straussberg, Rachel, Chung, Wendy K., Helal, Mayada, Maroofian, Reza, Houlden, Henry, Juusola, Jane, Sadedin, Simon, Pais, Lynn, Howell, Katherine B., White, Susan M., Christodoulou, John, and O’Connell, Mary A.
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- 2020
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15. De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features
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Pan, Xueyang, primary, Tao, Alice M., additional, Lu, Shenzhao, additional, Ma, Mengqi, additional, Hannan, Shabab B., additional, Slaugh, Rachel, additional, Drewes Williams, Sarah, additional, O'Grady, Lauren, additional, Kanca, Oguz, additional, Person, Richard, additional, Carter, Melissa T., additional, Platzer, Konrad, additional, Schnabel, Franziska, additional, Abou Jamra, Rami, additional, Roberts, Amy E., additional, Newburger, Jane W., additional, Revah-Politi, Anya, additional, Granadillo, Jorge L., additional, Stegmann, Alexander P.A., additional, Sinnema, Margje, additional, Accogli, Andrea, additional, Salpietro, Vincenzo, additional, Capra, Valeria, additional, Ghaloul-Gonzalez, Lina, additional, Brueckner, Martina, additional, Simon, Marleen E.H., additional, Sweetser, David A., additional, Glinton, Kevin E., additional, Kirk, Susan E., additional, Wangler, Michael F., additional, Yamamoto, Shinya, additional, Chung, Wendy K., additional, Bellen, Hugo J., additional, Burrage, Lindsay C., additional, Heaney, Jason D., additional, Kim, Seon-Young, additional, Lanza, Denise G., additional, Liu, Zhandong, additional, Mao, Dongxue, additional, Milosavljevic, Aleksander, additional, Nagamani, Sandesh C.S., additional, Posey, Jennifer E., additional, Ramamurthy, Uma, additional, Ramanathan, Vivek, additional, Rogers, Jeffrey, additional, Rosenfeld, Jill A., additional, Roth, Matthew, additional, and Zahedi Darshoori, Ramin, additional
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- 2024
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16. Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway
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Karolak, Justyna A., Vincent, Marie, Deutsch, Gail, Gambin, Tomasz, Cogné, Benjamin, Pichon, Olivier, Vetrini, Francesco, Mefford, Heather C., Dines, Jennifer N., Golden-Grant, Katie, Dipple, Katrina, Freed, Amanda S., Leppig, Kathleen A., Dishop, Megan, Mowat, David, Bennetts, Bruce, Gifford, Andrew J., Weber, Martin A., Lee, Anna F., Boerkoel, Cornelius F., Bartell, Tina M., Ward-Melver, Catherine, Besnard, Thomas, Petit, Florence, Bache, Iben, Tümer, Zeynep, Denis-Musquer, Marie, Joubert, Madeleine, Martinovic, Jelena, Bénéteau, Claire, Molin, Arnaud, Carles, Dominique, André, Gwenaelle, Bieth, Eric, Chassaing, Nicolas, Devisme, Louise, Chalabreysse, Lara, Pasquier, Laurent, Secq, Véronique, Don, Massimiliano, Orsaria, Maria, Missirian, Chantal, Mortreux, Jérémie, Sanlaville, Damien, Pons, Linda, Küry, Sébastien, Bézieau, Stéphane, Liet, Jean-Michel, Joram, Nicolas, Bihouée, Tiphaine, Scott, Daryl A., Brown, Chester W., Scaglia, Fernando, Tsai, Anne Chun-Hui, Grange, Dorothy K., Phillips, John A., 3rd, Pfotenhauer, Jean P., Jhangiani, Shalini N., Gonzaga-Jauregui, Claudia G., Chung, Wendy K., Schauer, Galen M., Lipson, Mark H., Mercer, Catherine L., van Haeringen, Arie, Liu, Qian, Popek, Edwina, Coban Akdemir, Zeynep H., Lupski, James R., Szafranski, Przemyslaw, Isidor, Bertrand, Le Caignec, Cedric, and Stankiewicz, Paweł
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- 2019
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17. Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder
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Ganapathi, Mythily, Padgett, Leah R., Yamada, Kentaro, Devinsky, Orrin, Willaert, Rebecca, Person, Richard, Au, Ping-Yee Billie, Tagoe, Julia, McDonald, Marie, Karlowicz, Danielle, Wolf, Barry, Lee, Joanna, Shen, Yufeng, Okur, Volkan, Deng, Liyong, LeDuc, Charles A., Wang, Jiayao, Hanner, Ashleigh, Mirmira, Raghavendra G., Park, Myung Hee, Mastracci, Teresa L., and Chung, Wendy K.
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- 2019
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18. Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function
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Xu, Zhiwen, Lo, Wing-Sze, Beck, David B., Schuch, Luise A., Oláhová, Monika, Kopajtich, Robert, Chong, Yeeting E., Alston, Charlotte L., Seidl, Elias, Zhai, Liting, Lau, Ching-Fun, Timchak, Donna, LeDuc, Charles A., Borczuk, Alain C., Teich, Andrew F., Juusola, Jane, Sofeso, Christina, Müller, Christoph, Pierre, Germaine, Hilliard, Tom, Turnpenny, Peter D., Wagner, Matias, Kappler, Matthias, Brasch, Frank, Bouffard, John Paul, Nangle, Leslie A., Yang, Xiang-Lei, Zhang, Mingjie, Taylor, Robert W., Prokisch, Holger, Griese, Matthias, Chung, Wendy K., and Schimmel, Paul
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- 2018
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19. Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes
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Son, Jung Hoon, Xie, Gangcai, Yuan, Chi, Ena, Lyudmila, Li, Ziran, Goldstein, Andrew, Huang, Lulin, Wang, Liwei, Shen, Feichen, Liu, Hongfang, Mehl, Karla, Groopman, Emily E., Marasa, Maddalena, Kiryluk, Krzysztof, Gharavi, Ali G., Chung, Wendy K., Hripcsak, George, Friedman, Carol, Weng, Chunhua, and Wang, Kai
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- 2018
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20. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
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Hamdan, Fadi F., Myers, Candace T., Cossette, Patrick, Lemay, Philippe, Spiegelman, Dan, Laporte, Alexandre Dionne, Nassif, Christina, Diallo, Ousmane, Monlong, Jean, Cadieux-Dion, Maxime, Dobrzeniecka, Sylvia, Meloche, Caroline, Retterer, Kyle, Cho, Megan T., Rosenfeld, Jill A., Bi, Weimin, Massicotte, Christine, Miguet, Marguerite, Brunga, Ledia, Regan, Brigid M., Mo, Kelly, Tam, Cory, Schneider, Amy, Hollingsworth, Georgie, FitzPatrick, David R., Donaldson, Alan, Canham, Natalie, Blair, Edward, Kerr, Bronwyn, Fry, Andrew E., Thomas, Rhys H., Shelagh, Joss, Hurst, Jane A., Brittain, Helen, Blyth, Moira, Lebel, Robert Roger, Gerkes, Erica H., Davis-Keppen, Laura, Stein, Quinn, Chung, Wendy K., Dorison, Sara J., Benke, Paul J., Fassi, Emily, Corsten-Janssen, Nicole, Kamsteeg, Erik-Jan, Mau-Them, Frederic T., Bruel, Ange-Line, Verloes, Alain, Õunap, Katrin, Wojcik, Monica H., Albert, Dara V.F., Venkateswaran, Sunita, Ware, Tyson, Jones, Dean, Liu, Yu-Chi, Mohammad, Shekeeb S., Bizargity, Peyman, Bacino, Carlos A., Leuzzi, Vincenzo, Martinelli, Simone, Dallapiccola, Bruno, Tartaglia, Marco, Blumkin, Lubov, Wierenga, Klaas J., Purcarin, Gabriela, O’Byrne, James J., Stockler, Sylvia, Lehman, Anna, Keren, Boris, Nougues, Marie-Christine, Mignot, Cyril, Auvin, Stéphane, Nava, Caroline, Hiatt, Susan M., Bebin, Martina, Shao, Yunru, Scaglia, Fernando, Lalani, Seema R., Frye, Richard E., Jarjour, Imad T., Jacques, Stéphanie, Boucher, Renee-Myriam, Riou, Emilie, Srour, Myriam, Carmant, Lionel, Lortie, Anne, Major, Philippe, Diadori, Paola, Dubeau, François, D’Anjou, Guy, Bourque, Guillaume, Berkovic, Samuel F., Sadleir, Lynette G., Campeau, Philippe M., Kibar, Zoha, Lafrenière, Ronald G., Girard, Simon L., Mercimek-Mahmutoglu, Saadet, Boelman, Cyrus, Rouleau, Guy A., Scheffer, Ingrid E., Mefford, Heather C., Andrade, Danielle M., Rossignol, Elsa, Minassian, Berge A., and Michaud, Jacques L.
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- 2017
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21. Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
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Hannah, Michael G., Bugiardini, Enrico, Bertini, Enrico, Kriouile, Yamna, El-Khorassani, Mohamed, Aguennouz, Mhammed, Groppa, Stanislav, Karashova, Blagovesta M., Goraya, Jatinder S., Sultan, Tipu, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Veggiotti, Pierangelo, Verrotti, Alberto, Lanari, Marcello, Savasta, Salvatore, Macaya, Alfons, Garavaglia, Barbara, Borgione, Eugenia, Papacostas, Savvas, Vikelis, Michail, Chelban, Viorica, Kaiyrzhanov, Rauan, Cortese, Andrea, Sullivan, Roisin, Papanicolaou, Eleni Z., Dardiotis, Efthymios, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Rana, Nuzhat N., Atawneh, Osama, Lim, Shen-Yang, Zuccotti, Gian V., Marseglia, Gian L., Esposito, Susanna, Shaikh, Farooq, Cogo, Paola, Corsello, Giovanni, Mangano, Salvatore, Nardello, Rosaria, Mangano, Donato, Scardamaglia, Annarita, Koutsis, George, Scuderi, Carmela, Ferrara, Pietro, Morello, Giovanna, Zollo, Massimo, Berni-Canani, Roberto, Terracciano, Luigi M., Sisto, Antonio, Di Fabio, Sandra, Strano, Federica, Scorrano, Giovanna, Di Bella, Saverio, Di Francesco, Ludovica, Manizha, Ganieva, Isrofilov, Maksud, Guliyeva, Ulviyya, Salayev, Kamran, Khachatryan, Samson, Xiromerisiou, Georgia, Spanaki, Cleanthe, Fiorillo, Chiara, Iacomino, Michele, Gaudio, Eugenio, Munell, Francina, Gagliano, Antonella, Jan, Farida, Chimenz, Roberto, Gitto, Eloisa, Iughetti, Lorenzo, Di Rosa, Gabriella, Maghnie, Mohamad, Pettoello-Mantovani, Massimo, Gupta, Neerja, Kabra, Madhulika, Benrhouma, Hanene, Tazir, Meriem, Bottone, Gabriella, Farello, Giovanni, Delvecchio, Maurizio, Di-Donato, Giulio, Obeid, Makram, Bakhtadze, Sophia, Saadi, Nebal W., Miraglia-Del-Giudice, Michele, Maccarone, Rita, Zaki, Maha S., Triki, Chahnez C., Kara, Majdi, Karimiani, Ehsan G., Salih, Ahmed M., Ramenghi, Luca A., Seri, Marco, Di-Falco, Giovanna, Mandarà, Luana, Barrano, Giuseppe, Elisa, Maurizio, Cherubini, Enrico, Operto, Francesca F., Valenzise, Mariella, Cattaneo, Antonino, Zazzeroni, Francesca, Alesse, Edoardo, Matricardi, Sara, Zafar, Faisal, Ullah, Ehsan, Afzal, Erum, Rahman, Fatima, Ahmed, Muhammad M., Parisi, Pasquale, Spalice, Alberto, De Filippo, Maria, Licari, Amelia, Trebbi, Edoardo, Romano, Ferdinando, Heimer, Gali, Al-Khawaja, Issam, Al-Mutairi, Fuad, Alkuraya, Fowzan S., Rizig, Mie, Shashkin, Chingiz, Zharkynbekova, Nazira, Koneyev, Kairgali, Salpietro, Vincenzo, Maroofian, Reza, Wangen, Jamie, Ciolfi, Andrea, Barresi, Sabina, Efthymiou, Stephanie, Lamaze, Angelique, Aughey, Gabriel N., Al Mutairi, Fuad, Rad, Aboulfazl, Rocca, Clarissa, Calì, Elisa, Accogli, Andrea, Zara, Federico, Striano, Pasquale, Mojarrad, Majid, Tariq, Huma, Giacopuzzi, Edoardo, Taylor, Jenny C., Oprea, Gabriela, Skrahina, Volha, Rehman, Khalil Ur, Abd Elmaksoud, Marwa, Bassiony, Mahmoud, El Said, Huda G., Abdel-Hamid, Mohamed S., Al Shalan, Maha, Seo, Gohun, Kim, Sohyun, Lee, Hane, Khang, Rin, Issa, Mahmoud Y., Elbendary, Hasnaa M., Rafat, Karima, Marinakis, Nikolaos M., Traeger-Synodinos, Joanne, Ververi, Athina, Sourmpi, Mara, Eslahi, Atieh, Khadivi Zand, Farhad, Beiraghi Toosi, Mehran, Babaei, Meisam, Jackson, Adam, Bertoli-Avella, Aida, Pagnamenta, Alistair T., Niceta, Marcello, Battini, Roberta, Corsello, Antonio, Leoni, Chiara, Chiarelli, Francesco, Dallapiccola, Bruno, Faqeih, Eissa Ali, Tallur, Krishnaraya K., Alfadhel, Majid, Alobeid, Eman, Maddirevula, Sateesh, Mankad, Kshitij, Banka, Siddharth, Ghayoor-Karimiani, Ehsan, Tartaglia, Marco, Chung, Wendy K., Green, Rachel, Jepson, James E.C., and Houlden, Henry
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- 2024
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22. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine
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Amaral, Michelle, Amendola, Laura, Appelbaum, Paul S., Aronson, Samuel J., Arora, Shubhangi, Azzariti, Danielle R., Barsh, Greg S., Bebin, E.M., Biesecker, Barbara B., Biesecker, Leslie G., Biswas, Sawona, Blout, Carrie L., Bowling, Kevin M., Brothers, Kyle B., Brown, Brian L., Burt, Amber A., Byers, Peter H., Caga-anan, Charlisse F., Calikoglu, Muge G., Carlson, Sara J., Chahin, Nizar, Chinnaiyan, Arul M., Christensen, Kurt D., Chung, Wendy, Cirino, Allison L., Clayton, Ellen, Conlin, Laura K., Cooper, Greg M., Crosslin, David R., Davis, James V., Davis, Kelly, Deardorff, Matthew A., Devkota, Batsal, De Vries, Raymond, Diamond, Pamela, Dorschner, Michael O., Dugan, Noreen P., Dukhovny, Dmitry, Dulik, Matthew C., East, Kelly M., Rivera-Munoz, Edgar A., Evans, Barbara, Evans, James P., Everett, Jessica, Exe, Nicole, Fan, Zheng, Feuerman, Lindsay Z., Filipski, Kelly, Finnila, Candice R., Fishler, Kristen, Fullerton, Stephanie M., Ghrundmeier, Bob, Giles, Karen, Gilmore, Marian J., Girnary, Zahra S., Goddard, Katrina, Gonsalves, Steven, Gordon, Adam S., Gornick, Michele C., Grady, William M., Gray, David E., Gray, Stacy W., Green, Robert, Greenwood, Robert S., Gutierrez, Amanda M., Han, Paul, Hart, Ragan, Heagerty, Patrick, Henderson, Gail E., Hensman, Naomi, Hiatt, Susan M., Himes, Patricia, Hindorff, Lucia A., Hisama, Fuki M., Ho, Carolyn Y., Hoffman-Andrews, Lily B., Holm, Ingrid A., Hong, Celine, Horike-Pyne, Martha J., Hull, Sara, Hutter, Carolyn M., Jamal, Seema, Jarvik, Gail P., Jensen, Brian C., Joffe, Steve, Johnston, Jennifer, Karavite, Dean, Kauffman, Tia L., Kaufman, Dave, Kelley, Whitley, Kim, Jerry H., Kirby, Christine, Klein, William, Knoppers, Bartha, Koenig, Barbara A., Kong, Sek Won, Krantz, Ian, Krier, Joel B., Lamb, Neil E., Lambert, Michele P., Le, Lan Q., Lebo, Matthew S., Lee, Alexander, Lee, Kaitlyn B., Lennon, Niall, Leo, Michael C., Leppig, Kathleen A., Lewis, Katie, Lewis, Michelle, Lindeman, Neal I., Lockhart, Nicole, Lonigro, Bob, Lose, Edward J., Lupo, Philip J., Rodriguez, Laura Lyman, Lynch, Frances, Machini, Kalotina, MacRae, Calum, Manolio, Teri A., Marchuk, Daniel S., Martinez, Josue N., Masino, Aaron, McCullough, Laurence, McEwen, Jean, McGuire, Amy, McLaughlin, Heather M., McMullen, Carmit, Mieczkowski, Piotr A., Miller, Jeff, Miller, Victoria A., Mody, Rajen, Mooney, Sean D., Moore, Elizabeth G., Morris, Elissa, Murray, Michael, Muzny, Donna, Myers, Richard M., Ng, David, Nickerson, Deborah A., Oliver, Nelly M., Ou, Jeffrey, Parsons, Will, Patrick, Donald L., Pennington, Jeffrey, Perry, Denise L., Petersen, Gloria, Plon, Sharon, Porter, Katie, Powell, Bradford C., Punj, Sumit, Breitkopf, Carmen Radecki, Raesz-Martinez, Robin A., Raskind, Wendy H., Rehm, Heidi L., Reigar, Dean A., Reiss, Jacob A., Rich, Carla A., Richards, Carolyn Sue, Rini, Christine, Roberts, Scott, Robertson, Peggy D., Robinson, Dan, Robinson, Jill O., Robinson, Marguerite E., Roche, Myra I., Romasko, Edward J., Rosenthal, Elisabeth A., Salama, Joseph, Scarano, Maria I., Schneider, Jennifer, Scollon, Sarah, Seidman, Christine E., Seifert, Bryce A., Sharp, Richard R., Shirts, Brian H., Sholl, Lynette M., Siddiqui, Javed, Silverman, Elian, Simmons, Shirley, Simons, Janae V., Skinner, Debra, Spinner, Nancy B., Stoffel, Elena, Strande, Natasha T., Sunyaev, Shamil, Sybert, Virginia P., Taber, Jennifer, Tabor, Holly K., Tarczy-Hornoch, Peter, Taylor, Deanne M., Tilley, Christian R., Tomlinson, Ashley, Trinidad, Susan, Tsai, Ellen, Ubel, Peter, Van Allen, Eliezer M., Vassy, Jason L., Vats, Pankaj, Veenstra, David L., Vetter, Victoria L., Vries, Raymond D., Wagle, Nikhil, Walser, Sarah A., Walsh, Rebecca C., Weck, Karen, Werner-Lin, Allison, Whittle, Jana, Wilfond, Ben, Wilhelmsen, Kirk C., Wolf, Susan M., Wynn, Julia, Yang, Yaping, Young, Carol, Yu, Joon-Ho, Zikmund-Fisher, Brian J., Green, Robert C., Goddard, Katrina A.B., Amendola, Laura M., Berg, Jonathan S., Bernhardt, Barbara A., Burke, Wylie, Chung, Wendy K., Clayton, Ellen W., Cooper, Gregory M., East, Kelly, Garraway, Levi A., Garrett, Jeremy R., Lewis, Michelle Huckaby, Janne, Pasi A., Joffe, Steven, Kaufman, David, Knoppers, Bartha M., Krantz, Ian D., Parsons, Donald W., Petersen, Gloria M., Plon, Sharon E., Roberts, J. Scott, Salama, Joseph S., Shirts, Brian, Wilfond, Benjamin S., and Wilhelmsen, Kirk
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- 2016
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23. Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder
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Ziegler, Alban, Steindl, Katharina, Hanner, Ashleigh S, Kumar Kar, Rajesh, Prouteau, Clément, Boland, Anne, Deleuze, Jean Francois, Coubes, Christine, Bézieau, Stéphane, Küry, Sébastien, Maystadt, Isabelle, Le Mao, Morgane, Lenaers, Guy, Navet, Benjamin, Faivre, Laurence, Tran Mau-Them, Frédéric, Zanoni, Paolo, Chung, Wendy K, Rauch, Anita, Bonneau, Dominique, Park, Myung Hee, University of Zurich, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Universität Zürich [Zürich] = University of Zurich (UZH), Centre National de Recherche en Génomique Humaine (CNRGH), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Centre National de Génotypage (CNG), Institut de Génomique d'Evry (IG), Université Paris-Saclay-Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ), Centre hospitalier universitaire de Nantes (CHU Nantes), Centre de Génétique Humaine [Charleroi, Belgium] (Institut de Pathologie et de Génétique), Institut de Pathologie et de Génétique, Charleroi, Immunomodulation of the Tumor Microenvironment and Immunotherapy of Thoracic Cancers (CRCI2NA / Eq 1), Centre de Recherche en Cancérologie et Immunologie Intégrée Nantes-Angers (CRCI2NA ), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Unité fonctionnelle d' Innovation en Diagnostic Génomique des Maladies Rares (CHU Dijon) (UF6254), University hospital of Zurich [Zurich], Columbia University Medical Center (CUMC), and Columbia University [New York]
- Subjects
DHPS ,10039 Institute of Medical Genetics ,Lysine ,[SDV]Life Sciences [q-bio] ,deoxyhypusine hydroxylase ,DOHH ,Gene Expression ,translation ,610 Medicine & health ,neurodevelopmental disorder ,hypusine ,Mixed Function Oxygenases ,post ,translational modification ,Neurodevelopmental Disorders ,Report ,EIF5A1 ,Genetics ,Humans ,570 Life sciences ,biology ,eIF5A ,microcephaly ,Alleles ,Genetics (clinical) - Abstract
Deoxyhypusine hydroxylase (DOHH) is the enzyme catalyzing the second step in the post-translational synthesis of hypusine [N(ε)-(4-amino-2-hydroxybutyl)lysine] in the eukaryotic initiation factor 5A (eIF5A). Hypusine is formed exclusively in eIF5A by two sequential enzymatic steps catalyzed by deoxyhypusine synthase (DHPS) and deoxyhypusine hydroxylase (DOHH). Hypusinated eIF5A is essential for translation and cell proliferation in eukaryotes, and all three genes encoding eIF5A, DHPS, and DOHH are highly conserved throughout eukaryotes. Pathogenic variants affecting either DHPS or EIF5A have been previously associated with neurodevelopmental disorders. Using trio exome sequencing, we identified rare bi-allelic pathogenic missense and truncating DOHH variants segregating with disease in five affected individuals from four unrelated families. The DOHH variants are associated with a neurodevelopmental phenotype that is similar to phenotypes caused by DHPS or EIF5A variants and includes global developmental delay, intellectual disability, facial dysmorphism, and microcephaly. A two-dimensional gel analyses revealed the accumulation of deoxyhypusine-containing eIF5A [eIF5A(Dhp)] and a reduction in the hypusinated eIF5A in fibroblasts derived from affected individuals, providing biochemical evidence for deficiency of DOHH activity in cells carrying the bi-allelic DOHH variants. Our data suggest that rare bi-allelic variants in DOHH result in reduced enzyme activity, limit the hypusination of eIF5A, and thereby lead to a neurodevelopmental disorder.
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- 2022
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24. Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations
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Sanna-Cherchi, Simone, Kiryluk, Krzysztof, Burgess, Katelyn E., Bodria, Monica, Sampson, Matthew G., Hadley, Dexter, Nees, Shannon N., Verbitsky, Miguel, Perry, Brittany J., Sterken, Roel, Lozanovski, Vladimir J., Materna-Kiryluk, Anna, Barlassina, Cristina, Kini, Akshata, Corbani, Valentina, Carrea, Alba, Somenzi, Danio, Murtas, Corrado, Ristoska-Bojkovska, Nadica, Izzi, Claudia, Bianco, Beatrice, Zaniew, Marcin, Flogelova, Hana, Weng, Patricia L., Kacak, Nilgun, Giberti, Stefania, Gigante, Maddalena, Arapovic, Adela, Drnasin, Kristina, Caridi, Gianluca, Curioni, Simona, Allegri, Franca, Ammenti, Anita, Ferretti, Stefania, Goj, Vinicio, Bernardo, Luca, Jobanputra, Vaidehi, Chung, Wendy K., Lifton, Richard P., Sanders, Stephan, State, Matthew, Clark, Lorraine N., Saraga, Marijan, Padmanabhan, Sandosh, Dominiczak, Anna F., Foroud, Tatiana, Gesualdo, Loreto, Gucev, Zoran, Allegri, Landino, Latos-Bielenska, Anna, Cusi, Daniele, Scolari, Francesco, Tasic, Velibor, Hakonarson, Hakon, Ghiggeri, Gian Marco, and Gharavi, Ali G.
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- 2012
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25. Is there a way to reduce the inequity in variant interpretation on the basis of ancestry?
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Appelbaum, Paul S., primary, Burke, Wylie, additional, Parens, Erik, additional, Zeevi, David A., additional, Arbour, Laura, additional, Garrison, Nanibaa’ A., additional, Bonham, Vence L., additional, and Chung, Wendy K., additional
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- 2022
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26. Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk
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Willcox, Jon A.L., Geiger, Joshua T., Morton, Sarah U., McKean, David, Quiat, Daniel, Gorham, Joshua M., Tai, Angela C., DePalma, Steven, Bernstein, Daniel, Brueckner, Martina, Chung, Wendy K., Giardini, Alessandro, Goldmuntz, Elizabeth, Kaltman, Jonathan R., Kim, Richard, Newburger, Jane W., Shen, Yufeng, Srivastava, Deepak, Tristani-Firouzi, Martin, Gelb, Bruce, Porter, George A., Jr., Seidman, J.G., and Seidman, Christine E.
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- 2022
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27. Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
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Richard, Elodie M., Bakhtiari, Somayeh, Marsh, Ashley P.L., Kaiyrzhanov, Rauan, Wagner, Matias, Shetty, Sheetal, Pagnozzi, Alex, Nordlie, Sandra M., Guida, Brandon S., Cornejo, Patricia, Magee, Helen, Liu, James, Norton, Bethany Y., Webster, Richard I., Worgan, Lisa, Hakonarson, Hakon, Li, Jiankang, Guo, Yiran, Jain, Mahim, Blesson, Alyssa, Rodan, Lance H., Abbott, Mary-Alice, Comi, Anne, Cohen, Julie S., Alhaddad, Bader, Meitinger, Thomas, Lenz, Dominic, Ziegler, Andreas, Kotzaeridou, Urania, Brunet, Theresa, Chassevent, Anna, Smith-Hicks, Constance, Ekstein, Joseph, Weiden, Tzvi, Hahn, Andreas, Zharkinbekova, Nazira, Turnpenny, Peter, Tucci, Arianna, Yelton, Melissa, Horvath, Rita, Gungor, Serdal, Hiz, Semra, Oktay, Yavuz, Lochmuller, Hanns, Zollino, Marcella, Morleo, Manuela, Marangi, Giuseppe, Nigro, Vincenzo, Torella, Annalaura, Pinelli, Michele, Amenta, Simona, Husain, Ralf A., Grossmann, Benita, Rapp, Marion, Steen, Claudia, Marquardt, Iris, Grimmel, Mona, Grasshoff, Ute, Korenke, G. Christoph, Owczarek-Lipska, Marta, Neidhardt, John, Radio, Francesca Clementina, Mancini, Cecilia, Claps Sepulveda, Dianela Judith, McWalter, Kirsty, Begtrup, Amber, Crunk, Amy, Guillen Sacoto, Maria J., Person, Richard, Schnur, Rhonda E., Mancardi, Maria Margherita, Kreuder, Florian, Striano, Pasquale, Zara, Federico, Chung, Wendy K., Marks, Warren A., van Eyk, Clare L., Webber, Dani L., Corbett, Mark A., Harper, Kelly, Berry, Jesia G., MacLennan, Alastair H., Gecz, Jozef, Tartaglia, Marco, Salpietro, Vincenzo, Christodoulou, John, Kaslin, Jan, Padilla-Lopez, Sergio, Bilguvar, Kaya, Munchau, Alexander, Ahmed, Zubair M., Hufnagel, Robert B., Fahey, Michael C., Maroofian, Reza, Houlden, Henry, Sticht, Heinrich, Mane, Shrikant M., Rad, Aboulfazl, Vona, Barbara, Jin, Sheng Chih, Haack, Tobias B., Makowski, Christine, Hirsch, Yoel, Riazuddin, Saima, and Kruer, Michael C.
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- 2021
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28. De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy
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Usmani, Muhammad A., Ahmed, Zubair M., Magini, Pamela, Pienkowski, Victor Murcia, Rasmussen, Kristen J., Hernan, Rebecca, Rasheed, Faiza, Hussain, Mureed, Shahzad, Mohsin, Lanpher, Brendan C., Niu, Zhiyv, Lim, Foong-Yen, Pippucci, Tommaso, Ploski, Rafal, Kraus, Verena, Matuszewska, Karolina, Palombo, Flavia, Kianmahd, Jessica, Martinez-Agosto, Julian A., Lee, Hane, Colao, Emma, Motazacker, M. Mahdi, Brigatti, Karlla W., Puffenberger, Erik G., Riazuddin, S. Amer, Gonzaga-Jauregui, Claudia, Chung, Wendy K., Wagner, Matias, Schultz, Matthew J., Seri, Marco, Kievit, Anneke J.A., Perrotti, Nicola, Klein Wassink-Ruiter, J.S., van Bokhoven, Hans, Riazuddin, Sheikh, and Riazuddin, Saima
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- 2021
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29. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
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Acosta, Maria T., Adams, David R., Agrawal, Pankaj, Alejandro, Mercedes E., Allard, Patrick, Alvey, Justin, Andrews, Ashley, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Barbouth, Deborah, Batzli, Gabriel F., Bayrak-Toydemir, Pinar, Beggs, Alan H., Bejerano, Gill, Bellen, Hugo J., Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bick, David P., Birch, Camille L., Bivona, Stephanie, Bohnsack, John, Bonnenmann, Carsten, Bonner, Devon, Boone, Braden E., Bostwick, Bret L., Botto, Lorenzo, Briere, Lauren C., Brokamp, Elly, Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Carey, John, Carrasquillo, Olveen, Chang, Ta Chen Peter, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D'Souza, Precilla, Dasari, Surendra, Davids, Mariska, Dayal, Jyoti G., Dell'Angelica, Esteban C., Dhar, Shweta U., Dorrani, Naghmeh, Dorset, Daniel C., Douine, Emilie D., Draper, David D., Duncan, Laura, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Fresard, Laure, Gahl, William A., Godfrey, Rena A., Goldman, Alica M., Goldstein, David B., Gourdine, Jean-Philippe F., Grajewski, Alana, Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., Hayes, Nichole, High, Frances, Holm, Ingrid A., Hom, Jason, Huang, Alden, Huang, Yong, Isasi, Rosario, Jamal, Fariha, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Karaviti, Lefkothea, Kelley, Emily G., Kiley, Dana, Koeller, David M., Kohane, Isaac S., Kohler, Jennefer N., Krakow, Deborah, Krasnewich, Donna M., Korrick, Susan, Koziura, Mary, Krier, Joel B., Kyle, Jennifer E., Lalani, Seema R., Lam, Byron, Lanpher, Brendan C., Lanza, Ian R., Lau, C. Christopher, Lazar, Jozef, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levitt, Roy, Levy, Shawn E., Lewis, Richard A., Lincoln, Sharyn A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Markello, Thomas C., Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, May, Thomas, McCauley, Jacob, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa T., Metz, Thomas O., Might, Matthew, Morava-Kozicz, Eva, Moretti, Paolo M., Morimoto, Marie, Mulvihill, John J., Murdock, David R., Nath, Avi, Nelson, Stan F., Newberry, J. Scott, Newman, John H., Nicholas, Sarah K., Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Phillips, John A., III, Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Quinlan, Aaron, Raja, Archana N., Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rowley, Robb K., Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Samson, Susan L., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Shakachite, Lisa, Sharma, Prashant, Shashi, Vandana, Shields, Kathleen, Shin, Jimann, Signer, Rebecca, Sillari, Catherine H., Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Kevin S., Solnica-Krezel, Lilianna, Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Sutton, Shirley, Sweetser, David A., Tabor, Holly K., Tamburro, Cecelia P., Tan, Queenie K.-G., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Walker, Melissa, Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Wegner, Daniel, Westerfield, Monte, Wheeler, Matthew T., Wise, Anastasia L., Wolfe, Lynne A., Woods, Jeremy D., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, John, Yoon, Amanda J., Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Zuchner, Stephan, Kanca, Oguz, Andrews, Jonathan C., Lee, Pei-Tseng, Patel, Chirag, Braddock, Stephen R., Slavotinek, Anne M., Cohen, Julie S., Gubbels, Cynthia S., Aldinger, Kimberly A., Williams, Judy, Indaram, Maanasa, Fatemi, Ali, Yu, Timothy W., Agrawal, Pankaj B., Vezina, Gilbert, Simons, Cas, Crawford, Joanna, Chung, Wendy K., and Dobyns, William B.
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- 2019
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30. Insufficient Evidence for “Autism-Specific” Genes
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Myers, Scott M., primary, Challman, Thomas D., additional, Bernier, Raphael, additional, Bourgeron, Thomas, additional, Chung, Wendy K., additional, Constantino, John N., additional, Eichler, Evan E., additional, Jacquemont, Sebastien, additional, Miller, David T., additional, Mitchell, Kevin J., additional, Zoghbi, Huda Y., additional, Martin, Christa Lese, additional, and Ledbetter, David H., additional
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- 2020
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31. Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features
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Turnpenny, Peter D., Wright, Michael J., Sloman, Melissa, Caswell, Richard, van Essen, Anthony J., Gerkes, Erica, Pfundt, Rolph, White, Susan M., Shaul-Lotan, Nava, Carpenter, Lori, Schaefer, G. Bradley, Fryer, Alan, Innes, A. Micheil, Forbes, Kirsten P., Chung, Wendy K., McLaughlin, Heather, Henderson, Lindsay B., Roberts, Amy E., Heath, Karen E., Paumard-Hernández, Beatriz, Gener, Blanca, Fawcett, Katherine A., Gjergja-Juraški, Romana, Pilz, Daniela T., and Fry, Andrew E.
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- 2018
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32. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies
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Cheng, Hanyin, Dharmadhikari, Avinash V., Varland, Sylvia, Ma, Ning, Domingo, Deepti, Kleyner, Robert, Rope, Alan F., Yoon, Margaret, Stray-Pedersen, Asbjørg, Posey, Jennifer E., Crews, Sarah R., Eldomery, Mohammad K., Akdemir, Zeynep Coban, Lewis, Andrea M., Sutton, Vernon R., Rosenfeld, Jill A., Conboy, Erin, Agre, Katherine, Xia, Fan, Walkiewicz, Magdalena, Longoni, Mauro, High, Frances A., van Slegtenhorst, Marjon A., Mancini, Grazia M.S., Finnila, Candice R., van Haeringen, Arie, den Hollander, Nicolette, Ruivenkamp, Claudia, Naidu, Sakkubai, Mahida, Sonal, Palmer, Elizabeth E., Murray, Lucinda, Lim, Derek, Jayakar, Parul, Parker, Michael J., Giusto, Stefania, Stracuzzi, Emanuela, Romano, Corrado, Beighley, Jennifer S., Bernier, Raphael A., Küry, Sébastien, Nizon, Mathilde, Corbett, Mark A., Shaw, Marie, Gardner, Alison, Barnett, Christopher, Armstrong, Ruth, Kassahn, Karin S., Van Dijck, Anke, Vandeweyer, Geert, Kleefstra, Tjitske, Schieving, Jolanda, Jongmans, Marjolijn J., de Vries, Bert B.A., Pfundt, Rolph, Kerr, Bronwyn, Rojas, Samantha K., Boycott, Kym M., Person, Richard, Willaert, Rebecca, Eichler, Evan E., Kooy, R. Frank, Yang, Yaping, Wu, Joseph C., Lupski, James R., Arnesen, Thomas, Cooper, Gregory M., Chung, Wendy K., Gecz, Jozef, Stessman, Holly A.F., Meng, Linyan, and Lyon, Gholson J.
- Published
- 2018
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33. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
- Author
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Kanca, Oguz, primary, Andrews, Jonathan C., additional, Lee, Pei-Tseng, additional, Patel, Chirag, additional, Braddock, Stephen R., additional, Slavotinek, Anne M., additional, Cohen, Julie S., additional, Gubbels, Cynthia S., additional, Aldinger, Kimberly A., additional, Williams, Judy, additional, Indaram, Maanasa, additional, Fatemi, Ali, additional, Yu, Timothy W., additional, Agrawal, Pankaj B., additional, Vezina, Gilbert, additional, Simons, Cas, additional, Crawford, Joanna, additional, Lau, C. Christopher, additional, Chung, Wendy K., additional, Markello, Thomas C., additional, Dobyns, William B., additional, Adams, David R., additional, Gahl, William A., additional, Wangler, Michael F., additional, Yamamoto, Shinya, additional, Bellen, Hugo J., additional, Malicdan, May Christine V., additional, Acosta, Maria T., additional, Agrawal, Pankaj, additional, Alejandro, Mercedes E., additional, Allard, Patrick, additional, Alvey, Justin, additional, Andrews, Ashley, additional, Ashley, Euan A., additional, Azamian, Mahshid S., additional, Bacino, Carlos A., additional, Bademci, Guney, additional, Baker, Eva, additional, Balasubramanyam, Ashok, additional, Baldridge, Dustin, additional, Bale, Jim, additional, Barbouth, Deborah, additional, Batzli, Gabriel F., additional, Bayrak-Toydemir, Pinar, additional, Beggs, Alan H., additional, Bejerano, Gill, additional, Bernstein, Jonathan A., additional, Berry, Gerard T., additional, Bican, Anna, additional, Bick, David P., additional, Birch, Camille L., additional, Bivona, Stephanie, additional, Bohnsack, John, additional, Bonnenmann, Carsten, additional, Bonner, Devon, additional, Boone, Braden E., additional, Bostwick, Bret L., additional, Botto, Lorenzo, additional, Briere, Lauren C., additional, Brokamp, Elly, additional, Brown, Donna M., additional, Brush, Matthew, additional, Burke, Elizabeth A., additional, Burrage, Lindsay C., additional, Butte, Manish J., additional, Carey, John, additional, Carrasquillo, Olveen, additional, Chang, Ta Chen Peter, additional, Chao, Hsiao-Tuan, additional, Clark, Gary D., additional, Coakley, Terra R., additional, Cobban, Laurel A., additional, Cogan, Joy D., additional, Cole, F. Sessions, additional, Colley, Heather A., additional, Cooper, Cynthia M., additional, Cope, Heidi, additional, Craigen, William J., additional, D'Souza, Precilla, additional, Dasari, Surendra, additional, Davids, Mariska, additional, Dayal, Jyoti G., additional, Dell'Angelica, Esteban C., additional, Dhar, Shweta U., additional, Dorrani, Naghmeh, additional, Dorset, Daniel C., additional, Douine, Emilie D., additional, Draper, David D., additional, Duncan, Laura, additional, Eckstein, David J., additional, Emrick, Lisa T., additional, Eng, Christine M., additional, Esteves, Cecilia, additional, Estwick, Tyra, additional, Fernandez, Liliana, additional, Ferreira, Carlos, additional, Fieg, Elizabeth L., additional, Fisher, Paul G., additional, Fogel, Brent L., additional, Forghani, Irman, additional, Fresard, Laure, additional, Godfrey, Rena A., additional, Goldman, Alica M., additional, Goldstein, David B., additional, Gourdine, Jean-Philippe F., additional, Grajewski, Alana, additional, Groden, Catherine A., additional, Gropman, Andrea L., additional, Haendel, Melissa, additional, Hamid, Rizwan, additional, Hanchard, Neil A., additional, Hayes, Nichole, additional, High, Frances, additional, Holm, Ingrid A., additional, Hom, Jason, additional, Huang, Alden, additional, Huang, Yong, additional, Isasi, Rosario, additional, Jamal, Fariha, additional, Jiang, Yong-hui, additional, Johnston, Jean M., additional, Jones, Angela L., additional, Karaviti, Lefkothea, additional, Kelley, Emily G., additional, Kiley, Dana, additional, Koeller, David M., additional, Kohane, Isaac S., additional, Kohler, Jennefer N., additional, Krakow, Deborah, additional, Krasnewich, Donna M., additional, Korrick, Susan, additional, Koziura, Mary, additional, Krier, Joel B., additional, Kyle, Jennifer E., additional, Lalani, Seema R., additional, Lam, Byron, additional, Lanpher, Brendan C., additional, Lanza, Ian R., additional, Lazar, Jozef, additional, LeBlanc, Kimberly, additional, Lee, Brendan H., additional, Lee, Hane, additional, Levitt, Roy, additional, Levy, Shawn E., additional, Lewis, Richard A., additional, Lincoln, Sharyn A., additional, Liu, Pengfei, additional, Liu, Xue Zhong, additional, Longo, Nicola, additional, Loo, Sandra K., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, Macnamara, Ellen F., additional, MacRae, Calum A., additional, Maduro, Valerie V., additional, Majcherska, Marta M., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Mao, Rong, additional, Marom, Ronit, additional, Marth, Gabor, additional, Martin, Beth A., additional, Martin, Martin G., additional, Martínez-Agosto, Julian A., additional, Marwaha, Shruti, additional, May, Thomas, additional, McCauley, Jacob, additional, McConkie-Rosell, Allyn, additional, McCormack, Colleen E., additional, McCray, Alexa T., additional, Metz, Thomas O., additional, Might, Matthew, additional, Morava-Kozicz, Eva, additional, Moretti, Paolo M., additional, Morimoto, Marie, additional, Mulvihill, John J., additional, Murdock, David R., additional, Nath, Avi, additional, Nelson, Stan F., additional, Newberry, J. Scott, additional, Newman, John H., additional, Nicholas, Sarah K., additional, Novacic, Donna, additional, Oglesbee, Devin, additional, Orengo, James P., additional, Pace, Laura, additional, Pak, Stephen, additional, Pallais, J. Carl, additional, Palmer, Christina G.S., additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Phillips, John A., additional, Posey, Jennifer E., additional, Postlethwait, John H., additional, Potocki, Lorraine, additional, Pusey, Barbara N., additional, Quinlan, Aaron, additional, Raja, Archana N., additional, Renteria, Genecee, additional, Reuter, Chloe M., additional, Rives, Lynette, additional, Robertson, Amy K., additional, Rodan, Lance H., additional, Rosenfeld, Jill A., additional, Rowley, Robb K., additional, Ruzhnikov, Maura, additional, Sacco, Ralph, additional, Sampson, Jacinda B., additional, Samson, Susan L., additional, Saporta, Mario, additional, Schaechter, Judy, additional, Schedl, Timothy, additional, Schoch, Kelly, additional, Scott, Daryl A., additional, Shakachite, Lisa, additional, Sharma, Prashant, additional, Shashi, Vandana, additional, Shields, Kathleen, additional, Shin, Jimann, additional, Signer, Rebecca, additional, Sillari, Catherine H., additional, Silverman, Edwin K., additional, Sinsheimer, Janet S., additional, Sisco, Kathy, additional, Smith, Kevin S., additional, Solnica-Krezel, Lilianna, additional, Spillmann, Rebecca C., additional, Stoler, Joan M., additional, Stong, Nicholas, additional, Sullivan, Jennifer A., additional, Sutton, Shirley, additional, Sweetser, David A., additional, Tabor, Holly K., additional, Tamburro, Cecelia P., additional, Tan, Queenie K.-G., additional, Tekin, Mustafa, additional, Telischi, Fred, additional, Thorson, Willa, additional, Tifft, Cynthia J., additional, Toro, Camilo, additional, Tran, Alyssa A., additional, Urv, Tiina K., additional, Velinder, Matt, additional, Viskochil, Dave, additional, Vogel, Tiphanie P., additional, Wahl, Colleen E., additional, Walley, Nicole M., additional, Walsh, Chris A., additional, Walker, Melissa, additional, Wambach, Jennifer, additional, Wan, Jijun, additional, Wang, Lee-kai, additional, Ward, Patricia A., additional, Waters, Katrina M., additional, Webb-Robertson, Bobbie-Jo M., additional, Wegner, Daniel, additional, Westerfield, Monte, additional, Wheeler, Matthew T., additional, Wise, Anastasia L., additional, Wolfe, Lynne A., additional, Woods, Jeremy D., additional, Worthey, Elizabeth A., additional, Yang, John, additional, Yoon, Amanda J., additional, Yu, Guoyun, additional, Zastrow, Diane B., additional, Zhao, Chunli, additional, and Zuchner, Stephan, additional
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- 2019
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34. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism
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Harms, Frederike Leonie, Girisha, Katta M., Hardigan, Andrew A., Kortüm, Fanny, Shukla, Anju, Alawi, Malik, Dalal, Ashwin, Brady, Lauren, Tarnopolsky, Mark, Bird, Lynne M., Ceulemans, Sophia, Bebin, Martina, Bowling, Kevin M., Hiatt, Susan M., Lose, Edward J., Primiano, Michelle, Chung, Wendy K., Juusola, Jane, Akdemir, Zeynep C., Bainbridge, Matthew, Charng, Wu-Lin, Drummond-Borg, Margaret, Eldomery, Mohammad K., El-Hattab, Ayman W., Saleh, Mohammed A.M., Bézieau, Stéphane, Cogné, Benjamin, Isidor, Bertrand, Küry, Sébastien, Lupski, James R., Myers, Richard M., Cooper, Gregory M., and Kutsche, Kerstin
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- 2017
- Full Text
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35. Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females
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Bain, Jennifer M., Cho, Megan T., Telegrafi, Aida, Wilson, Ashley, Brooks, Susan, Botti, Christina, Gowans, Gordon, Autullo, Leigh Anne, Krishnamurthy, Vidya, Willing, Marcia C., Toler, Tomi L., Ben-Zev, Bruria, Elpeleg, Orly, Shen, Yufeng, Retterer, Kyle, Monaghan, Kristin G., and Chung, Wendy K.
- Published
- 2016
- Full Text
- View/download PDF
36. Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects
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Boyle, Lia, Wamelink, Mirjam M.C., Salomons, Gajja S., Roos, Birthe, Pop, Ana, Dauber, Andrew, Hwa, Vivian, Andrew, Melissa, Douglas, Jessica, Feingold, Murray, Kramer, Nancy, Saitta, Sulagna, Retterer, Kyle, Cho, Megan T., Begtrup, Amber, Monaghan, Kristin G., Wynn, Julia, and Chung, Wendy K.
- Published
- 2016
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37. Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy
- Author
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Harel, Tamar, Yesil, Gozde, Bayram, Yavuz, Coban-Akdemir, Zeynep, Charng, Wu-Lin, Karaca, Ender, Al Asmari, Ali, Eldomery, Mohammad K., Hunter, Jill V., Jhangiani, Shalini N., Rosenfeld, Jill A., Pehlivan, Davut, El-Hattab, Ayman W., Saleh, Mohammed A., LeDuc, Charles A., Muzny, Donna, Boerwinkle, Eric, Gibbs, Richard A., Chung, Wendy K., Yang, Yaping, Belmont, John W., and Lupski, James R.
- Published
- 2016
- Full Text
- View/download PDF
38. Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss
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Tanaka, Akemi J., Cho, Megan T., Millan, Francisca, Juusola, Jane, Retterer, Kyle, Joshi, Charuta, Niyazov, Dmitriy, Garnica, Adolfo, Gratz, Edward, Deardorff, Matthew, Wilkins, Alisha, Ortiz-Gonzalez, Xilma, Mathews, Katherine, Panzer, Karin, Brilstra, Eva, van Gassen, Koen L.I., Volker-Touw, Catharina M.L., van Binsbergen, Ellen, Sobreira, Nara, Hamosh, Ada, McKnight, Dianalee, Monaghan, Kristin G., and Chung, Wendy K.
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- 2015
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39. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling
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Snijders Blok, Lot, Madsen, Erik, Juusola, Jane, Gilissen, Christian, Baralle, Diana, Reijnders, Margot R.F., Venselaar, Hanka, Helsmoortel, Céline, Cho, Megan T., Hoischen, Alexander, Vissers, Lisenka E.L.M., Koemans, Tom S., Wissink-Lindhout, Willemijn, Eichler, Evan E., Romano, Corrado, Van Esch, Hilde, Stumpel, Connie, Vreeburg, Maaike, Smeets, Eric, Oberndorff, Karin, van Bon, Bregje W.M., Shaw, Marie, Gecz, Jozef, Haan, Eric, Bienek, Melanie, Jensen, Corinna, Loeys, Bart L., Van Dijck, Anke, Innes, A. Micheil, Racher, Hilary, Vermeer, Sascha, Di Donato, Nataliya, Rump, Andreas, Tatton-Brown, Katrina, Parker, Michael J., Henderson, Alex, Lynch, Sally A., Fryer, Alan, Ross, Alison, Vasudevan, Pradeep, Kini, Usha, Newbury-Ecob, Ruth, Chandler, Kate, Male, Alison, Dijkstra, Sybe, Schieving, Jolanda, Giltay, Jacques, van Gassen, Koen L.I., Schuurs-Hoeijmakers, Janneke, Tan, Perciliz L., Pediaditakis, Igor, Haas, Stefan A., Retterer, Kyle, Reed, Patrick, Monaghan, Kristin G., Haverfield, Eden, Natowicz, Marvin, Myers, Angela, Kruer, Michael C., Stein, Quinn, Strauss, Kevin A., Brigatti, Karlla W., Keating, Katherine, Burton, Barbara K., Kim, Katherine H., Charrow, Joel, Norman, Jennifer, Foster-Barber, Audrey, Kline, Antonie D., Kimball, Amy, Zackai, Elaine, Harr, Margaret, Fox, Joyce, McLaughlin, Julie, Lindstrom, Kristin, Haude, Katrina M., van Roozendaal, Kees, Brunner, Han, Chung, Wendy K., Kooy, R. Frank, Pfundt, Rolph, Kalscheuer, Vera, Mehta, Sarju G., Katsanis, Nicholas, and Kleefstra, Tjitske
- Published
- 2015
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40. A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis
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Cheung, Yee Him, Gayden, Tenzin, Campeau, Philippe M., LeDuc, Charles A., Russo, Donna, Nguyen, Van-Hung, Guo, Jiancheng, Qi, Ming, Guan, Yanfang, Albrecht, Steffen, Moroz, Brenda, Eldin, Karen W., Lu, James T., Schwartzentruber, Jeremy, Malkin, David, Berghuis, Albert M., Emil, Sherif, Gibbs, Richard A., Burk, David L., Vanstone, Megan, Lee, Brendan H., Orchard, David, Boycott, Kym M., Chung, Wendy K., and Jabado, Nada
- Published
- 2013
- Full Text
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41. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine
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Green, Robert C., primary, Goddard, Katrina A.B., additional, Jarvik, Gail P., additional, Amendola, Laura M., additional, Appelbaum, Paul S., additional, Berg, Jonathan S., additional, Bernhardt, Barbara A., additional, Biesecker, Leslie G., additional, Biswas, Sawona, additional, Blout, Carrie L., additional, Bowling, Kevin M., additional, Brothers, Kyle B., additional, Burke, Wylie, additional, Caga-anan, Charlisse F., additional, Chinnaiyan, Arul M., additional, Chung, Wendy K., additional, Clayton, Ellen W., additional, Cooper, Gregory M., additional, East, Kelly, additional, Evans, James P., additional, Fullerton, Stephanie M., additional, Garraway, Levi A., additional, Garrett, Jeremy R., additional, Gray, Stacy W., additional, Henderson, Gail E., additional, Hindorff, Lucia A., additional, Holm, Ingrid A., additional, Lewis, Michelle Huckaby, additional, Hutter, Carolyn M., additional, Janne, Pasi A., additional, Joffe, Steven, additional, Kaufman, David, additional, Knoppers, Bartha M., additional, Koenig, Barbara A., additional, Krantz, Ian D., additional, Manolio, Teri A., additional, McCullough, Laurence, additional, McEwen, Jean, additional, McGuire, Amy, additional, Muzny, Donna, additional, Myers, Richard M., additional, Nickerson, Deborah A., additional, Ou, Jeffrey, additional, Parsons, Donald W., additional, Petersen, Gloria M., additional, Plon, Sharon E., additional, Rehm, Heidi L., additional, Roberts, J. Scott, additional, Robinson, Dan, additional, Salama, Joseph S., additional, Scollon, Sarah, additional, Sharp, Richard R., additional, Shirts, Brian, additional, Spinner, Nancy B., additional, Tabor, Holly K., additional, Tarczy-Hornoch, Peter, additional, Veenstra, David L., additional, Wagle, Nikhil, additional, Weck, Karen, additional, Wilfond, Benjamin S., additional, Wilhelmsen, Kirk, additional, Wolf, Susan M., additional, Wynn, Julia, additional, Yu, Joon-Ho, additional, Amaral, Michelle, additional, Amendola, Laura, additional, Aronson, Samuel J., additional, Arora, Shubhangi, additional, Azzariti, Danielle R., additional, Barsh, Greg S., additional, Bebin, E.M., additional, Biesecker, Barbara B., additional, Brown, Brian L., additional, Burt, Amber A., additional, Byers, Peter H., additional, Calikoglu, Muge G., additional, Carlson, Sara J., additional, Chahin, Nizar, additional, Christensen, Kurt D., additional, Chung, Wendy, additional, Cirino, Allison L., additional, Clayton, Ellen, additional, Conlin, Laura K., additional, Cooper, Greg M., additional, Crosslin, David R., additional, Davis, James V., additional, Davis, Kelly, additional, Deardorff, Matthew A., additional, Devkota, Batsal, additional, De Vries, Raymond, additional, Diamond, Pamela, additional, Dorschner, Michael O., additional, Dugan, Noreen P., additional, Dukhovny, Dmitry, additional, Dulik, Matthew C., additional, East, Kelly M., additional, Rivera-Munoz, Edgar A., additional, Evans, Barbara, additional, Everett, Jessica, additional, Exe, Nicole, additional, Fan, Zheng, additional, Feuerman, Lindsay Z., additional, Filipski, Kelly, additional, Finnila, Candice R., additional, Fishler, Kristen, additional, Ghrundmeier, Bob, additional, Giles, Karen, additional, Gilmore, Marian J., additional, Girnary, Zahra S., additional, Goddard, Katrina, additional, Gonsalves, Steven, additional, Gordon, Adam S., additional, Gornick, Michele C., additional, Grady, William M., additional, Gray, David E., additional, Green, Robert, additional, Greenwood, Robert S., additional, Gutierrez, Amanda M., additional, Han, Paul, additional, Hart, Ragan, additional, Heagerty, Patrick, additional, Hensman, Naomi, additional, Hiatt, Susan M., additional, Himes, Patricia, additional, Hisama, Fuki M., additional, Ho, Carolyn Y., additional, Hoffman-Andrews, Lily B., additional, Hong, Celine, additional, Horike-Pyne, Martha J., additional, Hull, Sara, additional, Jamal, Seema, additional, Jensen, Brian C., additional, Joffe, Steve, additional, Johnston, Jennifer, additional, Karavite, Dean, additional, Kauffman, Tia L., additional, Kaufman, Dave, additional, Kelley, Whitley, additional, Kim, Jerry H., additional, Kirby, Christine, additional, Klein, William, additional, Knoppers, Bartha, additional, Kong, Sek Won, additional, Krantz, Ian, additional, Krier, Joel B., additional, Lamb, Neil E., additional, Lambert, Michele P., additional, Le, Lan Q., additional, Lebo, Matthew S., additional, Lee, Alexander, additional, Lee, Kaitlyn B., additional, Lennon, Niall, additional, Leo, Michael C., additional, Leppig, Kathleen A., additional, Lewis, Katie, additional, Lewis, Michelle, additional, Lindeman, Neal I., additional, Lockhart, Nicole, additional, Lonigro, Bob, additional, Lose, Edward J., additional, Lupo, Philip J., additional, Rodriguez, Laura Lyman, additional, Lynch, Frances, additional, Machini, Kalotina, additional, MacRae, Calum, additional, Marchuk, Daniel S., additional, Martinez, Josue N., additional, Masino, Aaron, additional, McLaughlin, Heather M., additional, McMullen, Carmit, additional, Mieczkowski, Piotr A., additional, Miller, Jeff, additional, Miller, Victoria A., additional, Mody, Rajen, additional, Mooney, Sean D., additional, Moore, Elizabeth G., additional, Morris, Elissa, additional, Murray, Michael, additional, Ng, David, additional, Oliver, Nelly M., additional, Parsons, Will, additional, Patrick, Donald L., additional, Pennington, Jeffrey, additional, Perry, Denise L., additional, Petersen, Gloria, additional, Plon, Sharon, additional, Porter, Katie, additional, Powell, Bradford C., additional, Punj, Sumit, additional, Breitkopf, Carmen Radecki, additional, Raesz-Martinez, Robin A., additional, Raskind, Wendy H., additional, Reigar, Dean A., additional, Reiss, Jacob A., additional, Rich, Carla A., additional, Richards, Carolyn Sue, additional, Rini, Christine, additional, Roberts, Scott, additional, Robertson, Peggy D., additional, Robinson, Jill O., additional, Robinson, Marguerite E., additional, Roche, Myra I., additional, Romasko, Edward J., additional, Rosenthal, Elisabeth A., additional, Salama, Joseph, additional, Scarano, Maria I., additional, Schneider, Jennifer, additional, Seidman, Christine E., additional, Seifert, Bryce A., additional, Shirts, Brian H., additional, Sholl, Lynette M., additional, Siddiqui, Javed, additional, Silverman, Elian, additional, Simmons, Shirley, additional, Simons, Janae V., additional, Skinner, Debra, additional, Stoffel, Elena, additional, Strande, Natasha T., additional, Sunyaev, Shamil, additional, Sybert, Virginia P., additional, Taber, Jennifer, additional, Taylor, Deanne M., additional, Tilley, Christian R., additional, Tomlinson, Ashley, additional, Trinidad, Susan, additional, Tsai, Ellen, additional, Ubel, Peter, additional, Van Allen, Eliezer M., additional, Vassy, Jason L., additional, Vats, Pankaj, additional, Vetter, Victoria L., additional, Vries, Raymond D., additional, Walser, Sarah A., additional, Walsh, Rebecca C., additional, Werner-Lin, Allison, additional, Whittle, Jana, additional, Wilfond, Ben, additional, Wilhelmsen, Kirk C., additional, Yang, Yaping, additional, Young, Carol, additional, and Zikmund-Fisher, Brian J., additional
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- 2016
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