Search Results - Chinn, Richard L

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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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    A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 by Michener, Sydney L., Chan, Hiuling, Rosenfeld, Jill A., Bekheirnia, Mir Reza, Wagner, Matias, Engels, Hartmut, Guillen Sacoto, Maria J., McDonnell, Pamela P., Pastinen, Tomi, Zhou, Dihong, Bolton, Jeffrey, Julia Suh, Dong Sun, Toosi, Mehran Beiraghi, Maroofian, Reza, Schaefer, Gerald Bradley, Russ-Hall, Sophie, Carvill, Gemma L., Mefford, Heather, Acosta, Maria T., Adams, David R., Amendola, Laura, Bademci, Guney, Balasubramanyam, Ashok, Beck, Anita, Bican, Anna, Blue, Elizabeth, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brown, Gabrielle, Carey, John, Crouse, Andrew B., Dipple, Katrina, Doss, Argenia L., Douine, Emilie D., Eckstein, David J., Fieg, Elizabeth L., Forghani, Irman, Godfrey, Rena A., Grajewski, Alana, Hahn, Sihoun, Hisama, Fuki M., Hutchison, Sarah, Introne, Wendy, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Korrick, Susan, Kozuira, Mary, Krakow, Deborah, Kravets, Elijah, Lalani, Seema R., LeBlanc, Kimberly, Levitt, Roy, Lewis, Richard A., Loo, Sandra K., Mahoney, Rachel, Mao, Rong, Maravilla, Kenneth, Marwaha, Shruti, McCray, Alexa T., Mefford, Heather, Merritt, J. Lawrence, Morava, Eva, Nakano-Okuno, Mariko, Nelson, Stanley F., Phillips III, John A., Posey, Jennifer E., Potocki, Lorraine, Rao, Deepak A., Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Robertson, Amy K., Rossignol, Francis, Ruzhnikov, Maura, Saporta, Mario, Seto, Elaine, Sisco, Kathy, Spillmann, Rebecca C., Stoler, Joan M., Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Telischi, Fred, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Vogel, Tiphanie P., Wallace, Stephanie, Wambach, Jennifer, Wegner, Daniel, Wener, Mark, Wenger, Tara, Westerfield, Monte, Worley, Kim, Xiao, Changrui, Yang, John, Chao, Hsiao-Tuan

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    Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes by Phillips, Jennifer B., Lanza, Denise G., Jain, Mahim, Raman, Vandana, Chitayat, David, Chinn, Ivan K., Bertuch, Alison A., Bamshad, Michael, Savarirayan, Ravi, Doddapaneni, Harsha, Muzny, Donna, Gibbs, Richard A., Rosenfeld, Jill A., Postlethwait, John, Beaudet, Arthur L., Ranza, Emmanuelle, Cormier-Daire, Valérie, Orange, Jordan S., Allard, Patrick, Barseghyan, Hayk, Batzli, Gabriel F., Beggs, Alan H., Bellen, Hugo J., Bernstein, Jonathan A., Bick, David P., Briere, Lauren C., Brokamp, Elly, Brush, Matthew, Coakley, Terra R., Cope, Heidi, Davidson, Jean M., Dayal, Jyoti G., Dhar, Shweta U., Dipple, Katrina M., Dorrani, Naghmeh, Duncan, Laura, Emrick, Lisa T., Eng, Christine M., Enns, Gregory M., Fisher, Paul G., Friedman, Noah D., Gahl, William A., Glanton, Emily, Goldman, Alica M., Gourdine, Jean-Philippe F., Groden, Catherine A., Haendel, Melissa, Hamid, Rizwan, High, Frances, Huang, Yong, Karaviti, Lefkothea, Kohler, Jennefer N., Krasnewich, Donna M., Korrick, Susan, Krier, Joel B., Kyle, Jennifer E., Lau, C. Christopher, Lee, Hane, Loo, Sandra K., Loscalzo, Joseph, Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCormack, Colleen E., McCray, Alexa T., Metz, Thomas O., Murdock, David R., Newberry, J. Scott, Nicholas, Sarah K., Palmer, Christina G.S., Papp, Jeanette C., Phillips, John A., Posey, Jennifer E., Pusey, Barbara N., Sampson, Jacinda B., Shakachite, Lisa, Signer, Rebecca, Silverman, Edwin K., Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sweetser, David A., Tan, Queenie K.-G., Tran, Alyssa A., Vogel, Tiphanie P., Wahl, Colleen E., Wangler, Michael F., Waters, Katrina M., Westerfield, Monte, Wise, Anastasia L., Yang, John, Yang, Yaping, Yoon, Amanda J., Zastrow, Diane B., Zhao, Chunli, Offiah, Amaka C., Carey, John C., Bacino, Carlos A., Campeau, Philippe M., Lee, Brendan

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    De novo variants in DENND5B cause a neurodevelopmental disorder by Scala, Marcello, Ferla, Matteo, Fatemi, Ali, Phillips, John A., Rio, Marlene, Siquier, Karine, Musante, Ilaria, Baldassari, Simona, Iacomino, Michele, Acosta, Maria T., Allworth, Aimee, Afzali, Ben, Bademci, Guney, Beck, Anita, Berry, Gerard T., Bican, Anna, Bohnsack, John, Botto, Lorenzo, Brown, Gabrielle, Carrasquillo, Olveen, Chanprasert, Sirisak, Chao, HsiaoTuan, Chinn, Ivan, Clark, Gary D., Cope, Heidi, Craigen, William J., D’Souza, Precilla, Dipple, Katrina, Doherty, Daniel, Doss, Argenia L., Fisher, Paul G., Fogel, Brent L., Gahl, William A., Glass, Ian, Godfrey, Rena A., Grajewski, Alana, Gropman, Andrea, Halley, Meghan C., Hanchard, Neal, Hassey, Kelly, Hayes, Nichole, Hom, Jason, Huang, Alden, Introne, Wendy, Jarvik, Jeffrey, Jobanputra, Vaidehi, Kilich, Gonench, Kohler, Jennefer N., Korrick, Susan, Krasnewich, Donna M., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., Maduro, Valerie V., Marth, Gabor, Martin, Beth A., Marwaha, Shruti, McConkie-Rosell, Allyn, McCray, Alexa T., Moretti, Paolo, Morimoto, Marie, Nakano-Okuno, Mariko, Nieves-Rodriguez, Shirley, Orengo, James P., Pace, Laura, Parker, Neil H., Quinlan, Aaron, Raper, Anna, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rossignol, Francis, Saporta, Mario, Schaechter, Judy, Seto, Elaine, Shelkowitz, Emily, Shin, Jimann, Solnica-Krezel, Lilianna, Sweetser, David A., Sybert, Virginia, Tarakad, Arjun, Velinder, Matt, Viskochil, Dave, Ward, Patricia A., Wegner, Daniel, Weisz Hubshman, Monika, Wener, Mark, Wenger, Tara, Reed, Sara, Al Saif, Hind, Walsh, Matthew B., Gustincich, Stefano, Ruggiero, Sarah M., Fitzgerald, Mark P., Helbig, Ingo, Severino, Mariasavina

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    Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network by Fernandes, Samuela, Adams, David R., Afzali, Ben, Alvarez, Raquel L., Alvey, Justin, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Baldridge, Dustin, Bale, Jim, Beck, Anita, Beggs, Alan H., Bennett, Jimmy, Berry, Gerard T., Bican, Anna, Bohnsack, John, Borja, Nicholas, Briere, Lauren C., Byers, Peter, Callaway, Kaitlin, Chanprasert, Sirisak, Chinn, Ivan, Clark, Gary D., Corona, Rosario I., Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D’Souza, Precilla, Darr, Kahlen, Dasari, Surendra, Dipple, Katrina, Dorrani, Naghmeh, Douine, Emilie D., Earl, Dawn, Eng, Christine M., Fogel, Brent L., Fu, Jiayu, Goddard, Page C., Gropman, Andrea, Halley, Meghan C., Hanchard, Neal, High, Frances, Hing, Anne, Hisama, Fuki M., Hom, Jason, Horike‐Pyne, Martha, Huang, Alden, Huang, Yan, Hurst, Anna, Introne, Wendy, Jarvik, Gail P., Kanca, Oguz, Kiley, Dana, Korf, Bruce, Krakow, Deborah, Lam, Christina, Lanpher, Brendan C., Lee, Brendan H., Liu, Pengfei, Longo, Nicola, Malicdan, May Christine V., Marth, Gabor, Martínez‐Agosto, Julian A., McCray, Alexa T., Might, Matthew, Mikati, Mohamad, Moretti, Paolo, Morimoto, Marie, Mulvihill, John J., Novacic, Donna, Oglesbee, Devin, Parker, Neil H., Petcharet, Leoyklang, Posey, Jennifer E., Potocki, Lorraine, Rader, Daniel J., Rajagopalan, Ramakrishnan, Reuter, Chloe M., Sabaii, Marla, Sheppeard, Sam, Silverman, Edwin K., Skelton, Tammi, Skraban, Cara, Sutton, Shirley, Tabor, Holly K., Tan, Queenie, Taylor, Herman, Tekin, Mustafa, Tifft, Cynthia J., Toro, Camilo, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Wambach, Jennifer, Ward, Patricia A., Hubshman, Monika Weisz, Wenger, Tara, Westerfield, Monte, Wood, Heidi

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