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    Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome by Sheppard, Sarah E., Campbell, Ian M., Harr, Margaret H., Gold, Nina, Li, Dong, Bjornsson, Hans T., Cohen, Julie S., Fahrner, Jill A., Fatemi, Ali, Harris, Jacqueline R., Nowak, Catherine, Stevens, Cathy A., Grand, Katheryn, Au, Margaret, Graham, John M., Sanchez‐Lara, Pedro A., Campo, Miguel Del, Jones, Marilyn C., Abdul‐Rahman, Omar, Bassetti, Jennifer A., Bergstrom, Katherine, Bhoj, Elizabeth, Dugan, Sarah, Kaplan, Julie D., Derar, Nada, Gripp, Karen W., Hauser, Natalie, Innes, A. Micheil, Keena, Beth, Kodra, Neslida, Miller, Rebecca, Nelson, Beverly, Nowaczyk, Malgorzata J., Rahbeeni, Zuhair, Ben‐Shachar, Shay, Shieh, Joseph T., Slavotinek, Anne, Sobering, Andrew K., Abbott, Mary‐Alice, Allain, Dawn C., Amlie‐Wolf, Louise, Au, Ping Yee Billie, Bedoukian, Emma, Beek, Geoffrey, Barry, James, Berg, Janet, Bernstein, Jonathan A., Cytrynbaum, Cheryl, Chung, Brian Hon‐Yin, Donoghue, Sarah, Dorrani, Naghmeh, Eaton, Alison, Flores‐Daboub, Josue A., Dubbs, Holly, Felix, Carolyn A., Fong, Chin‐To, Fung, Jasmine Lee Fong, Gangaram, Balram, Goldstein, Amy, Greenberg, Rotem, Ha, Thoa K., Hersh, Joseph, Izumi, Kosuke, Kravets, Elijah, Kwok, Pui‐Yan, Jobling, Rebekah K., Knight Johnson, Amy E., Kushner, Jessica, Lee, Bo Hoon, Levin, Brooke, Lindstrom, Kristin, Manickam, Kandamurugu, Mardach, Rebecca, McCormick, Elizabeth, McLeod, D. Ross, Mentch, Frank D., Minks, Kelly, Muraresku, Colleen, Nelson, Stanley F., Porazzi, Patrizia, Pichurin, Pavel N., Powell‐Hamilton, Nina N., Powis, Zoe, Ritter, Alyssa, Rogers, Caleb, Rohena, Luis, Ronspies, Carey, Schroeder, Audrey, Stark, Zornitza, Starr, Lois, Stoler, Joan, Suwannarat, Pim, Velinov, Milen, Weksberg, Rosanna, Wilnai, Yael, Zadeh, Neda, Falk, Marni J., Hakonarson, Hakon, Zackai, Elaine H., Quintero‐Rivera, Fabiola

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    Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders by Stray-Pedersen, Asbjørg, MD, PhD, Sorte, Hanne Sørmo, MS, Samarakoon, Pubudu, MS, Gambin, Tomasz, PhD, Chinn, Ivan K., MD, Coban Akdemir, Zeynep H., PhD, Erichsen, Hans Christian, MD, PhD, Forbes, Lisa R., MD, Gu, Shen, PhD, Yuan, Bo, PhD, Jhangiani, Shalini N., MS, Muzny, Donna M., MS, Rødningen, Olaug Kristin, PhD, Sheng, Ying, PhD, Nicholas, Sarah K., MD, PhD, Noroski, Lenora M., MD, MPH, Seeborg, Filiz O., MD, MPH, Davis, Carla M., MD, Canter, Debra L., MS, Mace, Emily M., PhD, Vece, Timothy J., MD, Allen, Carl E., MD, PhD, Abhyankar, Harshal A., MS, Boone, Philip M., MD, PhD, Beck, Christine R., PhD, Wiszniewski, Wojciech, MD, PhD, Fevang, Børre, MD, PhD, Aukrust, Pål, MD, PhD, Tjønnfjord, Geir E., MD, PhD, Gedde-Dahl, Tobias, MD, PhD, Hjorth-Hansen, Henrik, MD, PhD, Dybedal, Ingunn, MD, PhD, Nordøy, Ingvild, MD, PhD, Jørgensen, Silje F., MD, Abrahamsen, Tore G., MD, PhD, Øverland, Torstein, MD, Bechensteen, Anne Grete, MD, PhD, Skogen, Vegard, MD, PhD, Osnes, Liv T.N., MD, PhD, Kulseth, Mari Ann, PhD, Prescott, Trine E., MD, Rustad, Cecilie F., MD, Heimdal, Ketil R., MD, PhD, Belmont, John W., MD, PhD, Rider, Nicholas L., DO, Chinen, Javier, MD, PhD, Cao, Tram N., MS, Smith, Eric A., BSc, Caldirola, Maria Soledad, BSc, Bezrodnik, Liliana, MD, Lugo Reyes, Saul Oswaldo, MD, Espinosa Rosales, Francisco J., MD, Guerrero-Cursaru, Nina Denisse, BSc, Pedroza, Luis Alberto, PhD, Poli, Cecilia M., MD, Franco, Jose L., MD, PhD, Trujillo Vargas, Claudia M., PhD, Aldave Becerra, Juan Carlos, MD, Wright, Nicola, MD, Issekutz, Thomas B., MD, Issekutz, Andrew C., MD, Abbott, Jordan, MD, Caldwell, Jason W., DO, Bayer, Diana K., DO, Chan, Alice Y., MD, PhD, Aiuti, Alessandro, MD, PhD, Cancrini, Caterina, MD, PhD, Holmberg, Eva, MD, West, Christina, MD, PhD, Burstedt, Magnus, MD, PhD, Karaca, Ender, MD, Yesil, Gözde, MD, Artac, Hasibe, MD, Bayram, Yavuz, MD, Atik, Mehmed Musa, BSc, Eldomery, Mohammad K., MD, Ehlayel, Mohammad S., MD, PhD, Jolles, Stephen, MD, PhD, Flatø, Berit, MD, PhD, Bertuch, Alison A., MD, PhD, Hanson, I. Celine, MD, Zhang, Victor W., PhD, Wong, Lee-Jun, PhD, Hu, Jianhong, PhD, Walkiewicz, Magdalena, PhD, Yang, Yaping, PhD, Eng, Christine M., MD, Boerwinkle, Eric, PhD, Gibbs, Richard A., PhD, Shearer, William T., MD, PhD, Lyle, Robert, PhD, Orange, Jordan S., MD, PhD, Lupski, James R., MD, PhD, DSc (Hon)

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    Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals by Howrigan, Daniel P., Abbott, Liam E., Tashman, Katherine, Singh, Tarjinder, Watts, Nick, Lal, Dennis, Hakonarson, Hakon, Weckhuysen, Sarah, Petrovski, Slavé, Cossette, Patrick, Cotsapas, Chris, De Jonghe, Peter, Guerrini, Renzo, Marson, Anthony G., Depondt, Chantal, Striano, Pasquale, Freyer, Catharine, Regan, Brigid M., Leu, Costin, Johns, Esther M.C., Macdonald, Alexandra, Bahlo, Melanie, Todaro, Marian, Stamberger, Hannah, Sadoway, Tara R., Kousiappa, Ioanna, Tanteles, George A., Štěrbová, Katalin, Kunz, Wolfram S., Zsurka, Gábor, Elger, Christian E., Rademacher, Michael, van Baalen, Andreas, von Spiczak, Sarah, Afawi, Zaid, Canavati, Christina, Kluger, Gerhard, Blatt, Ilan, Weber, Yvonne G., Wolking, Stefan, Rau, Sarah, Steinhoff, Bernhard J., Schulze-Bonhage, Andreas, Borggräfe, Ingo, Madeleyn, Rene, Kälviäinen, Reetta, Linnankivi, Tarja, Chung, Seo-Kyung, Balestrini, Simona, Braatz, Vera, Johnson, Michael R., Auce, Pauls, Sham, Pak C., Lui, Colin H.T., Doherty, Colin P., Shukralla, Arif, El-Naggar, Hany, Vari, Maria Stella, Salpietro, Vincenzo, Tinuper, Paolo, Gagliardi, Monica, Montomoli, Martino, Doccini, Viola, Inoue, Yushi, Yamakawa, Kazuhiro, Tumiene, Birute, Sadleir, Lynette G., Caglayan, S. Hande, Arslan, Mutluay, Yis, Uluc, Topaloglu, Pınar, Baykan, Betül, Salman, Barış, Haryanyan, Garen, Özkara, Çiğdem, Poduri, Annapurna, Shiedley, Beth R., Shain, Catherine, French, Jacqueline A., Kuzniecky, Ruben I., Hegde, Manu, Helbig, Katherine L., Piras, Federica, Reif, Andreas, McQuillin, Andrew, Johnstone, Mandy, Palotie, Aarno, Carvalho, Celia Barreto, Achtyes, Eric D., Azevedo, Maria Helena, Kotov, Roman, Lehrer, Douglas S., Marder, Stephen R., Medeiros, Helena, Morley, Christopher P., Rapaport, Mark H., Knowles, James A., McCarroll, Steven A., Lowenstein, Daniel H., Goldstein, David B.

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    Interethnic analyses of blood pressure loci in populations of East Asian and European descent by Takeuchi, Fumihiko, Akiyama, Masato, Matoba, Nana, Katsuya, Tomohiro, Nakatochi, Masahiro, Tabara, Yasuharu, Narita, Akira, Saw, Woei-Yuh, Moon, Sanghoon, Spracklen, Cassandra N., Chai, Jin-Fang, Kim, Young-Jin, Zhang, Liang, Wang, Chaolong, Li, Huaixing, Li, Honglan, Wu, Jer-Yuarn, Dorajoo, Rajkumar, Nierenberg, Jovia L., Wang, Ya Xing, He, Jing, Bennett, Derrick A., Takahashi, Atsushi, Momozawa, Yukihide, Hirata, Makoto, Matsuda, Koichi, Rakugi, Hiromi, Nakashima, Eitaro, Isono, Masato, Shirota, Matsuyuki, Hozawa, Atsushi, Ichihara, Sahoko, Matsubara, Tatsuaki, Yamamoto, Ken, Kohara, Katsuhiko, Igase, Michiya, Han, Sohee, Gordon-Larsen, Penny, Huang, Wei, Lee, Nanette R., Adair, Linda S., Hwang, Mi Yeong, Lee, Juyoung, Chee, Miao Li, Sabanayagam, Charumathi, Zhao, Wanting, Liu, Jianjun, Reilly, Dermot F., Sun, Liang, Huo, Shaofeng, Edwards, Todd L., Long, Jirong, Chang, Li-Ching, Chen, Chien-Hsiun, Yuan, Jian-Min, Koh, Woon-Puay, Friedlander, Yechiel, Kelly, Tanika N., Bin Wei, Wen, Xu, Liang, Cai, Hui, Xiang, Yong-Bing, Lin, Kuang, Clarke, Robert, Walters, Robin G., Millwood, Iona Y., Li, Liming, Chambers, John C., Kooner, Jaspal S., Elliott, Paul, van der Harst, Pim, Chen, Zhengming, Sasaki, Makoto, Shu, Xiao-Ou, Jonas, Jost B., He, Jiang, Heng, Chew-Kiat, Chen, Yuan-Tsong, Zheng, Wei, Lin, Xu, Teo, Yik-Ying, Tai, E-Shyong, Cheng, Ching-Yu, Wong, Tien Yin, Sim, Xueling, Mohlke, Karen L., Yamamoto, Masayuki, Kim, Bong-Jo, Miki, Tetsuro, Nabika, Toru, Yokota, Mitsuhiro, Kamatani, Yoichiro, Kubo, Michiaki, Kato, Norihiro

    Published in Nature communications
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    Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals by Povysil, Gundula, Allen, Andrew S., Howrigan, Daniel P., Tashman, Katherine, Cerrato, Felecia, Cusick, Caroline, Heyne, Henrike, Churchhouse, Claire, Watts, Nick, Lal, Dennis, Gupta, Namrata, Cavalleri, Gianpiero L., Hakonarson, Hakon, Marson, Anthony G., Petrovski, Slavé, Sisodiya, Sanjay M., Depondt, Chantal, Scheffer, Ingrid E., Krause, Roland, Regan, Brigid M., Leu, Costin, Leech, Stephanie L., Todaro, Marian, Stamberger, Hannah, Kousiappa, Ioanna, Tanteles, George A., Christou, Yiolanda, Laššuthová, Petra, Knake, Susanne, Kunz, Wolfram S., Zsurka, Gábor, Surges, Rainer, Rademacher, Annika, von Spiczak, Sarah, Kanaan, Moien, Canavati, Christina, Lemke, Johannes R., Krey, Ilona, Weber, Yvonne G., Wolking, Stefan, Kegele, Josua, Borggräfe, Ingo, Mayer, Thomas, Brockmann, Knut, Madeleyn, Rene, Saarela, Anni, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Derambure, Philippe, Hirsch, Edouard, Chassoux, Francine, Chung, Seo-Kyung, Schneider, Natascha, Balestrini, Simona, Zagaglia, Sara, Johnson, Michael R., Auce, Pauls, Barišić, Nina, Canafoglia, Laura, Franceschetti, Silvana, Castellotti, Barbara, Granata, Tiziana, Ragona, Francesca, Iacomino, Michele, Riva, Antonella, Vari, Maria Stella, Salpietro, Vincenzo, Mancardi, Maria Margherita, Nobili, Lino, Bisulli, Francesca, Pippucci, Tommaso, Licchetta, Laura, Tinuper, Paolo, Gambardella, Antonio, Labate, Angelo, Annesi, Grazia, Manna, Lorella, Parrini, Elena, Bianchini, Claudia, Montomoli, Martino, Hirose, Shinichi, Yamakawa, Kazuhiro, Beydoun, Ahmad, Sadleir, Lynette G., Topaloglu, Pınar, Baykan, Betül, Özkara, YeşÇiğdem, Ho, Chen-Jui, Chou, I-Jun, Shain, Catherine, Goldman, Alicia, Busch, Robyn M., Jehi, Lara, Ferguson, Lisa, Clark, Peggy O., Privitera, Michael, Schachter, Steven, Cosico, Mahgenn, Lowenstein, Daniel H., Goldstein, David B.

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    eP291 - Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner Syndrome by Campbell, Ian, Harr, Margaret, Gold, Nina, Li, Dong, Bjornsson, Hans, Cohen, Julie, Fahrner, Jill, Fatemi, Ali, Harris, Jacqueline, Nowak, Catherine, Stevens, Cathy, Grand, Katheryn, Au, Margaret, Graham, John, Sanchez-Lara, Pedro, Del Campo, Miguel, Jones, Marilyn, Abdul-Rahman, Omar, Alkuraya, Fowzan, Bassetti, Jennifer, Bergstrom, Katherine, Bhoj, Elizabeth, Dugan, Sarah, Kaplan, Julie, Derar, Nada, Gripp, Karen W., Hauser, Natalie, Innes, Micheil, Keena, Beth, Kodra, Neslida, Miller, Rebecca, Nelson, Beverly, Nowaczyk, Malgorzata, Rahbeeni, Zuhair, Ben-Shachar, Shay, Shieh, Joseph, Slavotinek, Anne, Sobering, Andrew, Abbott, Mary-Alice, Allain, Dawn, Amlie-Wolf, Louise, Billie Au, Ping Yee, Bedoukian, Emma, Beek, Geoffrey, Barry, James, Berg, Janet, Bernstein, Jonathan, Cytrynbaum, Cheryl, Chung, Brian Hon-Yin, Donoghue, Sarah, Dorrani, Naghmeh, Eaton, Alison, Flores-Daboub, Josue, Dubbs, Holly, Felix, Carolyn, Fong, Chin-To, Fung, Jasmine Lee-Fong, Gangaram, Balram, Goldstein, Amy, Greenberg, Rotem, Ha, Thoa, Hersh, Joseph, Izumi, Kosuke, Kallish, Staci, Kwok, Pui-Yan, Jobling, Rebekah, Knight-Johnson, Amy, Kushner, Jessica, Lee, Bo Hoon, Levin, Brooke, Lindstrom, Kristin, Manickam, Kandamurugu, Mardach, Rebecca, McCormick, Elizabeth, McLeod, D. Ross, Mentch, Frank, Minks, Kelly, Muraresku, Colleen, Nelson, Stanley, Porazzi, Patrizia, Pichurin, Pavel, Powell-Hamilton, Nina, Powis, Zoe, Ritter, Alyssa, Rohena, Luis, Ronspies, Carey, Schroeder, Audrey, Stark, Zornitza, Starr, Lois, Stoler, Joan, Suwannarat, Pim, Velinov, Milen, Weksberg, Rosanna, Wilnai, Yael, Zadeh, Neda, Zand, Dina, Falk, Marni, Hakonarson, Hakon, Zackai, Elaine, Quintero-Rivera, Fabiola

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    Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner Syndrome by Sheppard, Sarah, Campbell, Ian, Harr, Margaret, Gold, Nina, Li, Dong, Bjornsson, Hans, Cohen, Julie, Fahrner, Jill, Fatemi, Ali, Harris, Jacqueline, Nowak, Catherine, Stevens, Cathy, Grand, Katheryn, Au, Margaret, Graham, John, Sanchez-Lara, Pedro, Del Campo, Miguel, Jones, Marilyn, Abdul-Rahman, Omar, Alkuraya, Fowzan, Bassetti, Jennifer, Bergstrom, Katherine, Bhoj, Elizabeth, Dugan, Sarah, Kaplan, Julie, Derar, Nada, Gripp, Karen W., Hauser, Natalie, Innes, Micheil, Keena, Beth, Kodra, Neslida, Miller, Rebecca, Nelson, Beverly, Nowaczyk, Malgorzata, Rahbeeni, Zuhair, Ben-Shachar, Shay, Shieh, Joseph, Slavotinek, Anne, Sobering, Andrew, Abbott, Mary-Alice, Allain, Dawn, Amlie-Wolf, Louise, Billie Au, Ping Yee, Bedoukian, Emma, Beek, Geoffrey, Barry, James, Berg, Janet, Bernstein, Jonathan, Cytrynbaum, Cheryl, Chung, Brian Hon-Yin, Donoghue, Sarah, Dorrani, Naghmeh, Eaton, Alison, Flores-Daboub, Josue, Dubbs, Holly, Felix, Carolyn, Fong, Chin-To, Fung, Jasmine Lee-Fong, Gangaram, Balram, Goldstein, Amy, Greenberg, Rotem, Ha, Thoa, Hersh, Joseph, Izumi, Kosuke, Kallish, Staci, Kravets, Elijah, Kwok, Pui-Yan, Jobling, Rebekah, Knight-Johnson, Amy, Kushner, Jessica, Lee, Bo Hoon, Levin, Brooke, Lindstrom, Kristin, Manickam, Kandamurugu, Mardach, Rebecca, McCormick, Elizabeth, McLeod, D. Ross, Mentch, Frank, Minks, Kelly, Muraresku, Colleen, Nelson, Stanley, Porazzi, Patrizia, Pichurin, Pavel, Powell-Hamilton, Nina, Powis, Zoe, Ritter, Alyssa, Rogers, Caleb, Rohena, Luis, Ronspies, Carey, Schroeder, Audrey, Stark, Zornitza, Starr, Lois, Stoler, Joan, Suwannarat, Pim, Velinov, Milen, Weksberg, Rosanna, Wilnai, Yael, Zadeh, Neda, Zand, Dina, Falk, Marni

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