Fluorinated aromatic diamine von Jones, Robert J., O'Rell, Michael K., Hom, Jim M.

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Fluorinated aromatic diamine von O'RELL, MICHAEL K, HOM, JIM M, JONES, ROBERT J

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POLYIMIDES PREPARED FROM PERFLUOROISOPROPYLIDENE DIAMINE von HOM, JIM M, JONES, ROBERT J, O"RELL, MICHAEL K

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Polyimides prepared from perfluoroisopropylidene diamine von Jones, Robert J., O'Rell, Michael K., Hom, Jim M.

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Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification von Becerril, Alissa, Larson, Austin, Zerfas, Patricia M., Acosta, Maria T., Agrawal, Pankaj, Alejandro, Mercedes E., Andrews, Ashley, Bacino, Carlos A., Bademci, Guney, Baker, Eva, Baldridge, Dustin, Bale, Jim, Barbouth, Deborah, Batzli, Gabriel F., Bayrak-Toydemir, Pinar, Bernstein, Jonathan A., Birch, Camille L., Bivona, Stephanie, Bohnsack, John, Bonnenmann, Carsten, Bostwick, Bret L., Brokamp, Elly, Burrage, Lindsay C., Carey, John, Clark, Gary D., Cope, Heidi, Dasari, Surendra, Dayal, Jyoti G., Dorset, Daniel C., Eng, Christine M., Esteves, Cecilia, Fresard, Laure, Goldman, Alica M., Goldstein, David B., Groden, Catherine A., Haendel, Melissa, Hayes, Nichole, Holm, Ingrid A., Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Kohane, Isaac S., Krakow, Deborah, Krasnewich, Donna M., Korrick, Susan, Krier, Joel B., Lalani, Seema R., Lam, Byron, Lazar, Jozef, Levy, Shawn E., Liu, Xue Zhong, Malicdan, May Christine V., Mamounas, Laura A., Markello, Thomas C., Marom, Ronit, Martínez-Agosto, Julian A., McCormack, Colleen E., McCray, Alexa T., Might, Matthew, Morava-Kozicz, Eva, Murdock, David R., Nath, Avi, Nelson, Stan F., Newman, John H., Orengo, James P., Pace, Laura, Papp, Jeanette C., Parker, Neil H., Potocki, Lorraine, Raja, Archana N., Reuter, Chloe M., Rives, Lynette, Rowley, Robb K., Sampson, Jacinda B., Saporta, Mario, Schedl, Timothy, Shields, Kathleen, Signer, Rebecca, Sillari, Catherine H., Sisco, Kathy, Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Tekin, Mustafa, Thorson, Willa, Tran, Alyssa A., Wahl, Colleen E., Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Westerfield, Monte, Wheeler, Matthew T., Wolfe, Lynne A., Woods, Jeremy D., Worthey, Elizabeth A., Yamamoto, Shinya, Zuchner, Stephan, Day-Salvatore, Debra L., Mindell, Joseph A.

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Point-of-care ultrasonography by pediatric emergency medicine physicians von Marin, Jennifer R, Lewiss, Resa E

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Bi-allelic variants in INTS11 are associated with a complex neurological disorder von Tepe, Burak, Cogne, Benjamin, Neil, Jennifer E., Walsh, Christopher A., Magal, Nurit, Drasinover, Valerie, Schwab, Tanya, Schmitz, Chris, Clark, Karl, Blanc, Pierre, Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bayrak-Toydemir, Pinar, Beck, Anita, Behrens, Edward, Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Boyd, Brenna, Briere, Lauren C., Brown, Gabrielle, Byers, Peter, Byrd, William E., Carey, John, Clark, Gary D., Coakley, Terra R., Colley, Heather A., Craigen, William J., Cunningham, Michael, Dasari, Surendra, Dayal, Jyoti G., Deardorff, Matthew, Dipple, Katrina, Doherty, Daniel, Doss, Argenia L., Emrick, Lisa T., Fernandez, Liliana, Forghani, Irman, Glass, Ian, Gochuico, Bernadette, Golden-Grant, Katie, Goldrich, Madison P., Gutierrez, Irma, Hamid, Rizwan, Hayes, Nichole, Hom, Jason, Horike-Pyne, Martha, Isasi, Rosario, Jarvik, Jeffrey, Jobanputra, Vaidehi, Karaviti, Lefkothea, Kiley, Dana, Kobren, Shilpa N., Krasnewich, Donna M., LeBlanc, Kimberly, Levitt, Roy, Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Martin, Martin G., Martínez-Agosto, Julian A., Merritt, J. Lawrence, Morava, Eva, Newman, John H., Nickerson, Deborah, Novacic, Donna, Oglesbee, Devin, Pace, Laura, Palmer, Christina GS, Papp, Jeanette C., Rao, Deepak A., Renteria, Genecee, Reuter, Chloe M., Robertson, Amy K., Rosenfeld, Jill A., Rossignol, Francis, Ruzhnikov, Maura, Scott, C. Ron, Shin, Jimann, Sinsheimer, Janet S., Sullivan, Jennifer A., Sun, Angela, Tabor, Holly K., Telischi, Fred, Toro, Camilo, Tucker, Brianna M., Urv, Tiina K., Vogel, Tiphanie P., Walker, Melissa, Wangler, Michael F., Perry, Katherine Wesseling, Westerfield, Monte, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Zuchner, Stephan

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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 von 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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De novo variants in DENND5B cause a neurodevelopmental disorder von 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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Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder von Schneeberger, Pauline E, Kortüm, Fanny, Korenke, Georg Christoph, Alawi, Malik, Santer, René, Woidy, Mathias, Buhas, Daniela, Fox, Stephanie, Juusola, Jane, Alfadhel, Majid, Webb, Bryn D, Coci, Emanuele G, Abou Jamra, Rami, Siekmeyer, Manuela, Biskup, Saskia, Heller, Corina, Maier, Esther M, Javaher-Haghighi, Poupak, Bedeschi, Maria F, Ajmone, Paola F, Iascone, Maria, Peeters, Hilde, Ballon, Katleen, Jaeken, Jaak, Rodríguez Alonso, Aroa, Palomares-Bralo, María, Santos-Simarro, Fernando, Meuwissen, Marije E C, Beysen, Diane, Kooy, R Frank, Houlden, Henry, Murphy, David, Doosti, Mohammad, Karimiani, Ehsan G, Mojarrad, Majid, Maroofian, Reza, Noskova, Lenka, Kmoch, Stanislav, Honzik, Tomas, Cope, Heidi, Sanchez-Valle, Amarilis, Gelb, Bruce D, Kurth, Ingo, Hempel, Maja, Kutsche, Kerstin

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Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome von Bainbridge, Matthew N, Mazumder, Aloran, Ogasawara, Daisuke, Abou Jamra, Rami, Bernard, Geneviève, Bertini, Enrico, Burglen, Lydie, Cope, Heidi, Crawford, Ali, Derksen, Alexa, Dure, Leon, Gantz, Emily, Koch-Hogrebe, Margarete, Hurst, Anna C E, Mahida, Sonal, Marshall, Paige, Micalizzi, Alessia, Novelli, Antonio, Peng, Hongfan, Rodriguez, Diana, Robbins, Shira L, Rutledge, S Lane, Scalise, Roberta, Schließke, Sophia, Shashi, Vandana, Srivastava, Siddharth, Thiffault, Isabella, Topol, Sarah, Qebibo, Leila, Wieczorek, Dagmar, Cravatt, Benjamin, Haricharan, Svasti, Torkamani, Ali, Friedman, Jennifer

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De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling von Morleo, Manuela, Briere, Lauren C., Rosello, Marion, Tirozzi, Alfonsina, Tammaro, Roberta, High, Frances A., Adams, David R., Alvey, Justin, Bale, Jim, Bayrak-Toydemir, Pinar, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bonner, Devon, Butte, Manish J., Byrd, William E., Cassini, Thomas, Coakley, Terra R., Cobban, Laurel A., Cole, F. Sessions, Colley, Heather A., Dai, Hongzheng, Davis, Joie, Douine, Emilie D., Eckstein, David J., Emrick, Lisa T., Hadley, Don, Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, Horike-Pyne, Martha, Huang, Alden, Isasi, Rosario, Izumi, Kosuke, Jarvik, Gail P., Jarvik, Jeffrey, Jobanputra, Vaidehi, Karaviti, Lefkothea, Korrick, Susan, Krasnewich, Donna M., Lam, Byron, Liu, Pengfei, Longo, Nicola, Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., Maduro, Valerie V., Manolio, Teri A., Marwaha, Shruti, Mirzaa, Ghayda, Morava, Eva, Nakano-Okuno, Mariko, Nicholas, Sarah K., Pallais, J. Carl, Raskind, Wendy, Rosenwasser, Natalie, Sampson, Jacinda B., Schedl, Timothy, Shashi, Vandana, Smith, Edward C., Sullivan, Jennifer A., Sweetser, David A., Sybert, Virginia, Tekin, Mustafa, Tran, Alyssa A., Ungar, Rachel A., Vanderver, Adeline, Wallace, Stephanie, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Ward, Patricia A., Wegner, Daniel, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Torella, Annalaura, Morleo, Manuela, Spampanato, Carmine, Pinelli, Michele, Massimello, Marta, Leuzzi, Vincenzo, Romano, Corrado, Amenta, Simona, Grandone, Anna, Marini, Carla, Bigoni, Stefania, Trabacca, Antonio, De Rinaldis, Marta, Ferrante, Luigi, Torella, Annalaura, Tenconi, Romano, van Gassen, Koen L.I., Attie-Bitach, Tania, Zollino, Marcella, Sweetser, David A.

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The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones von Mulvihill, John J., Findley, Laura, Newman, John H., Wheeler, Matthew T., Mokry, Jill R., Al-Beshri, Ali, Balasubramanyam, Ashok, Bamshad, Michael, Beck, Anita, Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bernstein, Jonathan A., Bonner, Devon, Botto, Lorenzo, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Cassini, Thomas, Coakley, Terra R., Cobban, Laurel A., Cole, F. Sessions, Dai, Hongzheng, Davis, Joie, Delgado, Margaret, Earl, Dawn, Ezell, Kimberly, Fieg, Elizabeth L., Fisher, Paul G., Gahl, William A., Gonzalez, Joanna M., Gropman, Andrea, Hamid, Rizwan, Hassey, Kelly, Holm, Ingrid A., Hom, Jason, Hurst, Anna, Jarvik, Jeffrey, Jayadev, Suman, Marie, Orpa Jean, Jobanputra, Vaidehi, Karasozen, Yigit, Kilich, Gonench, Kobren, Shilpa N., Korf, Bruce, Krakow, Deborah, Kravets, Elijah, Lam, Christina, Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Longo, Nicola, Maas, Richard L., Macnamara, Ellen F., Maghiro, Audrey Stephannie, Mao, Rong, Marth, Gabor, McConkie-Rosell, Allyn, McCray, Alexa T., Mikati, Mohamad, Morimoto, Marie, Mulvihill, John J., Novacic, Donna, Oglesbee, Devin, Parker, Neil H., Petcharet, Leoyklang, Posey, Jennifer E., Rao, Deepak A., Raper, Anna, Raskind, Wendy, Rebelo, Adriana, Robertson, Amy K., Rodriguez, Martin, Rosenfeld, Jill A., Ruzhnikov, Maura, Sabaii, Marla, Schedl, Timothy, Seto, Elaine, Shelkowitz, Emily, Sisco, Kathy, Skelton, Tammi, Smith, Carson A., Solnica-Krezel, Lilianna, Sullivan, Kathleen, Sybert, Virginia, Tan, Amelia L.M., Taylor, Herman, Thorson, Willa, Tran, Alyssa A., Vanderver, Adeline, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Wangler, Michael F., Ward, Patricia A., Wheeler, Matthew T., Wolfe, Lynne A., Yamamoto, Shinya, Zhang, Zhe

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Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant von Gulsevin, Alican, Hamid, Rizwan, Neumann, Serena, Phillips, John A., Adams, David R., Afzali, Ben, Andrews, Ashley, Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bayrak‐Toydemir, Pinar, Beck, Anita, Bennett, Jimmy, Berry, Gerard T., Bican, Anna, Bohnsack, John, Bonner, Devon, Borja, Nicholas, Butte, Manish J., Byrd, William E., Callaway, Kaitlin, Carvalho, George, Chanprasert, Sirisak, Chinn, Ivan, Clark, Gary D., Cogan, Joy D., Coggins, Matthew, Corner, Brian, Dipple, Katrina, Doherty, Daniel, Douglas, Jessica, Emrick, Lisa T., Eng, Christine M., Fogel, Brent L., Fu, Jiayu, Glass, Ian, Gropman, Andrea, Halley, Meghan C., Hassey, Kelly, Hayes, Nichole, Hing, Anne, Horike‐Pyne, Martha, Huang, Alden, Huang, Yan, Kaitryn, Emerald, Kanca, Oguz, Kohler, Jennefer N., Krakow, Deborah, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., Liu, Pengfei, Longo, Nicola, Mahoney, Rachel, Marth, Gabor, McCray, Alexa T., Might, Matthew, Miller, Danny, Moretti, Paolo, Mulvihill, John J., Mulvihill, Lindsay, Neumann, Serena, Novacic, Donna, Orengo, James P., Pace, Laura, Pak, Stephen, Parker, Neil H., Pinto e Vairo, Filippo, Posey, Jennifer E., Potocki, Lorraine, Rader, Daniel J., Rosenfeld, Jill A., Ruzhnikov, Maura, Sampson, Jacinda B., Schoch, Kelly, Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Skelton, Tammi, Spillmann, Rebecca C., Stergachis, Andrew, Stoler, Joan M., Sutton, Shirley, Sweetser, David A., Tabor, Holly K., Tan, Queenie, Tan, Amelia L. M., Tifft, Cynthia J., Viskochil, Dave, Walker, Melissa, Walley, Nicole M., Wambach, Jennifer, Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wood, Heidi, Worley, Kim

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Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder von Ugur, Berrak, Zhang, Bo, Feng, Wenjia, Goddard, Pagé, Kravets, Elijah, Marwaha, Shruti, Adams, David R., Andrews, Ashley, Behrens, Edward, Berg-Rood, Beverly, Berry, Gerard T., Bohnsack, John, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Carrasquillo, Olveen, Chanprasert, Sirisak, Chinn, Ivan, Coggins, Matthew, Sessions Cole, F., Cope, Heidi, Dasari, Surendra, Dayal, Jyoti G., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Earl, Dawn, Ezell, Kimberly, Fisher, Paul G., Gahl, William A., Glass, Ian, Goddard, Page C., Halley, Meghan C., High, Frances, Hisama, Fuki M., Holm, Ingrid A., Hutchison, Sarah, Isasi, Rosario, Izumi, Kosuke, Jarvik, Gail P., Ketkar, Shamika, Kohane, Isaac S., Kohler, Jennefer N., Kozuira, Mary, Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Maas, Richard L., Manolio, Teri A., Mao, Rong, Marom, Ronit, Martin, Beth A., Marwaha, Shruti, McCauley, Jacob, McCray, Alexa T., Mefford, Heather, Morava, Eva, Moretti, Paolo, Nakano-Okuno, Mariko, Nelson, Stanley F., Neumann, Serena, Nickerson, Deborah, Palmer, Christina G.S., Parker, Neil H., Phillips, John A., Pusey Swerdzewski, Barbara N., Renteria, Genecee, Rosenfeld, Jill A., Sacco, Ralph, Schoch, Kelly, Shin, Jimann, Silverman, Edwin K., Sisco, Kathy, Smith, Edward C., Solomon, Ben, Sweetser, David A., Tran, Alyssa A., Velinder, Matt, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Worley, Kim, Xiao, Changrui, Yang, John, Zuchner, Stephan, Worthey, Elizabeth A., Postlethwait, John, Solnica-Krezel, Lila

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Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder von Mignot, Cyril, Littlejohn, Rebecca O., Bademci, Guney, Balasubramanyam, Ashok, Beck, Anita, Berg-Rood, Beverly, Berry, Gerard T., Bican, Anna, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Butte, Manish J., Peter Chang, Ta Chen, D'Souza, Precilla, Dasari, Surendra, Dayal, Jyoti G., Dell'Angelica, Esteban C., Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Gahl, William A., Goddard, Page C., Golden-Grant, Katie, Grajewski, Alana, Hadley, Don, Hahn, Sihoun, Halley, Meghan C., High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hutchison, Sarah, Izumi, Kosuke, Jarvik, Gail P., Jayadev, Suman, Jean-Marie, Orpa, Kennedy, Jennifer, Ketkar, Shamika, Kohane, Isaac S., Kohler, Jennefer N., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., Levitt, Roy, Liu, Pengfei, Longo, Nicola, Loscalzo, Joseph, Macnamara, Ellen F., Maduro, Valerie V., Manolio, Teri A., Marth, Gabor, Martin, Beth A., Marwaha, Shruti, McConkie-Rosell, Allyn, McCray, Alexa T., Morava, Eva, Nakano-Okuno, Mariko, Newman, John H., Nickerson, Deborah, Oglesbee, Devin, Pallais, J. Carl, Phillips, John A., Rosenwasser, Natalie, Schedl, Timothy, Shashi, Vandana, Sisco, Kathy, Solem, Emily, Solnica-Krezel, Lilianna, Solomon, Ben, Sullivan, Jennifer A., Sweetser, David A., Sybert, Virginia, Tekin, Mustafa, Telischi, Fred, Tran, Alyssa A., Ungar, Rachel A., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Wallace, Stephanie, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Ward, Patricia A., Hubshman, Monika Weisz, Wenger, Tara, Westerfield, Monte, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Sarret, Catherine, Platzer, Konrad, Fischer, Susann, Granadillo, Jorge L., Schreiner, Elisabeth

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Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly von Wan, Jijun, Adams, David R., Balasubramanyam, Ashok, Bamshad, Michael, Beck, Anita, Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bernstein, Jonathan A., Bonner, Devon, Burke, Elizabeth A., Burrage, Lindsay C., Byers, Peter, Carey, John, Cassini, Thomas, Chao, Hsiao-Tuan, Chinn, Ivan, Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Dai, Hongzheng, Davis, Joie, Douine, Emilie D., Eckstein, David J., Emrick, Lisa T., Hadley, Don, Halley, Meghan C., Hassey, Kelly, High, Frances, Hing, Anne, Hisama, Fuki M., Hutchison, Sarah, Jean-Marie, Orpa, Kaitryn, Emerald, Kilich, Gonench, Kobren, Shilpa N., Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Loo, Sandra K., MacRae, Calum A., Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Marth, Gabor, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., Novacic, Donna, Oglesbee, Devin, Posey, Jennifer E., Potocki, Lorraine, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Renteria, Genecee, Rives, Lynette, Rodan, Lance H., Rosenthal, Elizabeth, Rossignol, Francis, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Scott, Daryl A., Shelkowitz, Emily, Shin, Jimann, Sisco, Kathy, Smith, Edward C., Solomon, Ben, Sullivan, Kathleen, Sybert, Virginia, Tarakad, Arjun, Tekin, Mustafa, Thorson, Willa, Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Vanderver, Adeline, Viskochil, Dave, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Westerfield, Monte, Worley, Kim, Xiao, Changrui, Yang, John, Saillour, Virginie, Sacharow, Stephanie, Kanca, Oguz, Bellen, Hugo J., Palmer, Christina G.S.

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A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder von Shankar, Suma P., Grimsrud, Kristin, Stoler, Joan, Brinkmann, Ulrich, Adam, Margaret, Amendola, Laura, Andrews, Ashley, Bacino, Carlos A., Bademci, Guney, Baldridge, Dustin, Bale, Jim, Barbouth, Deborah, Berg-Rood, Beverly, Berry, Gerard T., Bivona, Stephanie, Blue, Elizabeth, Boyd, Brenna, Briere, Lauren C., Burke, Elizabeth A., Burrage, Lindsay C., Byers, Peter, Carey, John, Chao, Hsiao-Tuan, Colley, Heather A., Cooper, Cynthia M., Cunningham, Michael, Dasari, Surendra, Dayal, Jyoti G., Dell'Angelica, Esteban C., Dorrani, Naghmeh, Eckstein, David J., Fernandez, Liliana, Forghani, Irman, Golden-Grant, Katie, Goldrich, Madison P., Hamid, Rizwan, Hassey, Kelly, Introne, Wendy, Isasi, Rosario, Jamal, Fariha, Jayadev, Suman, Jobanputra, Vaidehi, Karaviti, Lefkothea, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Krasnewich, Donna M., Lanpher, Brendan C., LeBlanc, Kimberly, Levitt, Roy, Longo, Nicola, Mak, Bryan C., Malicdan, May Christine V., Mamounas, Laura A., Mao, Rong, Maravilla, Kenneth, Martin, Martin G., McGee, Elisabeth, Might, Matthew, Moretti, Paolo M., Nicholas, Sarah K., Orengo, James P., Pace, Laura, Pak, Stephen, Papp, Jeanette C., Parker, Neil H., Potocki, Lorraine, Pusey, Barbara N., Quinlan, Aaron, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Sampson, Jacinda B., Saporta, Mario, Scott, Daryl A., Silverman, Edwin K., Smith, Edward C., Smith, Kevin S., Stoler, Joan M., Sullivan, Kathleen, Sun, Angela, Sutton, Shirley, Tabor, Holly K., Tan, Amelia L.M., Queenie, K.-G., Telischi, Fred, Tifft, Cynthia J., Urv, Tiina K., Vogel, Tiphanie P., Wahl, Colleen E., Wang, Lee-kai, Wangler, Michael F., Perry, Katherine Wesseling, Westerfield, Monte, Wheeler, Matthew T., Wolfe, Lynne A., Zastrow, Diane B., Zuchner, Stephan

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Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy von McNamee, Lucy, Huang, Alden, Wang, Lee‐kai, Buckley, Anne F., Adams, David R., Afzali, Ben, Allworth, Aimee, Alvey, Justin, Andrews, Ashley, Bacino, Carlos A., Bademci, Guney, Baldridge, Dustin, Bale, Jim, Barbouth, Deborah, Beck, Anita, Bennett, Jimmy, Berry, Gerard T., Borja, Nicholas, Briere, Lauren C., Callaway, Kaitlin, Chanprasert, Sirisak, Coggins, Matthew, Craigen, William J., Cuddapah, Vishnu, Darr, Kahlen, Dipple, Katrina, Doherty, Daniel, Douglas, Jessica, Emrick, Lisa T., Eng, Christine M., Fogel, Brent L., Fu, Jiayu, Glass, Ian, Gropman, Andrea, Halley, Meghan C., Hassey, Kelly, Hayes, Nichole, Hing, Anne, Horike‐Pyne, Martha, Huang, Alden, Huang, Yan, Karasozen, Yigit, Ketkar, Shamika, Kilich, Gonench, Klee, Eric, Kohler, Jennefer N., Korrick, Susan, Kravets, Elijah, Lalani, Seema R., Latchman, Kumarie, LeBlanc, Kimberly, Liu, Pengfei, Longo, Nicola, MacRae, Calum A., Maghiro, AudreyStephannie, Mahoney, Rachel, Malicdan, May Christine V., Martin, Beth A., Miller, Danny, Moretti, Paolo, Mulvihill, Lindsay, Neumann, Serena, Novacic, Donna, Orengo, James P., Pace, Laura, Pak, Stephen, Parker, Neil H., Pinto e Vairo, Filippo, Posey, Jennifer E., Potocki, Lorraine, Rader, Daniel J., Rosenfeld, Jill A., Ruzhnikov, Maura, Sampson, Jacinda B., Schoch, Kelly, Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Skelton, Tammi, Spillmann, Rebecca C., Stergachis, Andrew, Stoler, Joan M., Sutton, Shirley, Sweetser, David A., Tabor, Holly K., Tan, Queenie, Tan, Amelia L. M., Tifft, Cynthia J., Viskochil, Dave, Walker, Melissa, Walley, Nicole M., Wambach, Jennifer, Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wood, Heidi, Worley, Kim

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De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features von Kanca, Oguz, Jangam, Sharayu, Tifft, Cynthia, Russell, Bianca E., Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Baldridge, Dustin, Bale, Jim, Beck, Anita, Bennett, Jimmy, Bivona, Stephanie, Blue, Elizabeth, Boyd, Brenna, Briere, Lauren C., Burke, Elizabeth A., Burrage, Lindsay C., Byers, Peter, Carey, John, Cassini, Thomas, Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Colley, Heather A., Cooper, Cynthia M., Corona, Rosario, Crouse, Andrew B., Dai, Hongzheng, Davis, Joie, Dell'Angelica, Esteban C., Eckstein, David J., Emrick, Lisa T., Hadley, Don, Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, Horike-Pyne, Martha, Huang, Alden, Isasi, Rosario, Izumi, Kosuke, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jobanputra, Vaidehi, Karaviti, Lefkothea, Kennedy, Jennifer, Kohler, Jennefer N., Korrick, Susan, Krakow, Deborah, Krasnewich, Donna M., Lanza, Ian R., Lee, Brendan H., Loo, Sandra K., MacRae, Calum A., Maghiro, AudreyStephannie, Marth, Gabor, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Might, Matthew, Mirzaa, Ghayda, Mulvihill, John, Nicholas, Sarah K., Orengo, James P., Pak, Stephen, Pallais, J. Carl, Palmer, Christina G.S., Parker, Neil H., Pusey Swerdzewski, Barbara N., Quinlan, Aaron, Reuter, Chloe M., Rives, Lynette, Rossignol, Francis, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schedl, Timothy, Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Solem, Emily, Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Sullivan, Kathleen, Sybert, Virginia, Tabor, Holly K., Vanderver, Adeline, Velinder, Matt, Walley, Nicole M., Wambach, Jennifer, Ward, Patricia A., Hubshman, Monika Weisz, Yamamoto, Shinya, Zhang, Zhe, Zuchner, Stephan

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