Search Results - Daniels, Edwin Ralph

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    De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation by Mao, Dongxue, Reuter, Chloe M., Farrow, Emily G., Rosenfeld, Jill A., Mackenzie, Katherine M., Küry, Sébastien, Genetti, Casie A., Alejandro, Mercedes, Agrawal, Pankaj B., Alvey, Justin, Ashley, Euan A., Balasubramanyam, Ashok, Beck, Anita, Bellen, Hugo J., Berg-Rood, Beverly, Bernier, Raphael, Bivona, Stephanie, Bohnsack, John, Briere, Lauren C., Burke, Elizabeth A., Butte, Manish J., Carrasquillo, Olveen, Cogan, Joy D., Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Craigen, William J., Cunningham, Michael, Dasari, Surendra, Dayal, Jyoti G., Dhar, Shweta U., Emrick, Lisa T., Estwick, Tyra, Ferreira, Carlos, Fieg, Elizabeth L., Fogel, Brent L., Forghani, Irman, Gahl, William A., Godfrey, Rena A., Goldman, Alica M., Hahn, Sihoun, Hanchard, Neil A., Hing, Anne, Holm, Ingrid A., Huang, Yong, Jamal, Fariha, Jayadev, Suman, Karaviti, Lefkothea, Kelley, Emily G., Kohane, Isaac S., Kohler, Jennefer N., Krakow, Deborah, Korrick, Susan, Koziura, Mary, Krier, Joel B., Lam, Byron, Lanpher, Brendan C., Lanza, Ian R., Lee, Brendan H., Lewis, Richard A., Loo, Sandra K., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Markello, Thomas C., Martin, Martin G., Martínez-Agosto, Julian A., McCormack, Colleen E., Merritt, J. Lawrence, Moretti, Paolo M., Mulvihill, John J., Murdock, David R., Nickerson, Deborah, Pallais, J. Carl, Posey, Jennifer E., Potocki, Lorraine, Raja, Archana N., Renteria, Genecee, Rosenfeld, Jill A., Samson, Susan L., Schedl, Timothy, Shakachite, Lisa, Signer, Rebecca, Silverman, Edwin K., Sybert, Virginia, Tekin, Mustafa, Thorson, Willa, Tran, Alyssa A., Urv, Tiina K., Wahl, Colleen E., Wegner, Daniel, Wheeler, Matthew T., Yamamoto, Shinya, Yang, John, Yoon, Amanda J., Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Bernstein, Jonathan A., Chao, Hsiao-Tuan

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  4. 4

    Bi-allelic variants in INTS11 are associated with a complex neurological disorder by 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 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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    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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  7. 7

    Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care by Maghiro, AudreyStephannie, Tabor, Holly K., Acosta, Maria T., Amendola, Laura, Andrews, Ashley, Balasubramanyam, Ashok, Baldridge, Dustin, Bennett, Jimmy, Berg-Rood, Beverly, Berry, Gerard T., Bican, Anna, Bohnsack, John, Boyd, Brenna, Burke, Elizabeth A., Byers, Peter, Peter Chang, Ta Chen, Chanprasert, Sirisak, Clark, Gary D., Cobban, Laurel A., Cogan, Joy D., Sessions Cole, F., Colley, Heather A., Cope, Heidi, D'Souza, Precilla, Dasari, Surendra, Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Earl, Dawn, Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Gahl, William A., Goddard, Page C., Golden-Grant, Katie, Grajewski, Alana, Hahn, Sihoun, Hamid, Rizwan, Hassey, Kelly, Holm, Ingrid A., Hom, Jason, Introne, Wendy, Izumi, Kosuke, Jayadev, Suman, Kiley, Dana, Kobren, Shilpa N., Korrick, Susan, Krasnewich, Donna M., Lam, Christina, Lanza, Ian R., Lee, Brendan H., Loo, Sandra K., Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Manolio, Teri A., Marth, Gabor, McConkie-Rosell, Allyn, Mefford, Heather, Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Pace, Laura, Posey, Jennifer E., Potocki, Lorraine, Rao, Deepak A., Raskind, Wendy, Renteria, Genecee, Robertson, Amy K., Rossignol, Francis, Ruzhnikov, Maura, Scott, Daryl A., Shashi, Vandana, Shin, Jimann, Sisco, Kathy, Smith, Edward C., Solomon, Ben, Sullivan, Jennifer A., Sybert, Virginia, Tan, Amelia L.M., Tekin, Mustafa, Telischi, Fred, Toro, Camilo, Ungar, Rachel A., Vanderver, Adeline, Walker, Melissa, 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

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  8. 8

    Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder by 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

    Published in Pediatric neurology
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  9. 9

    EFEMP1 haploinsufficiency causes a Marfan‐like hereditary connective tissue disorder by Forghani, Irman, Adam, Margaret, Azamian, Mahshid S., Baker, Eva, Baldridge, Dustin, Bale, Jim, Beck, Anita, Berg‐Rood, Beverly, Berry, Gerard T., Bican, Anna, Boyd, Brenna, Briere, Lauren C., Burke, Elizabeth A., Burrage, Lindsay C., Byers, Peter, Carey, John, Chang, Ta Chen Peter, Cogan, Joy D., Colley, Heather A., D'Souza, Precilla, Dasari, Surendra, Dell'Angelica, Esteban C., Duncan, Laura, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Fernandez, Liliana, Fieg, Elizabeth L., Forghani, Irman, Gochuico, Bernadette, Grajewski, Alana, Hahn, Sihoun, Hamid, Rizwan, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Huang, Yong, Jamal, Fariha, Jayadev, Suman, Kohler, Jennefer N., Krakow, Deborah, Kravets, Elijah, Koziura, Mary, Lam, Byron, Lam, Christina, Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levitt, Roy, Liu, Pengfei, Maas, Richard L., Macnamara, Ellen F., Maduro, Valerie V., Majcherska, Marta M., Manolio, Teri A., Marth, Gabor, Martínez‐Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie‐Rosell, Allyn, McGee, Elisabeth, Might, Matthew, Mirzaa, Ghayda, Moretti, Paolo M., Mosbrook‐Davis, Deborah, Murdock, David R., Nieves‐Rodriguez, Shirley, Parker, Neil H., Phillips, John A., Power, Bradley, Pusey, Barbara N., Quinlan, Aaron, Raskind, Wendy, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Solem, Emily, Stoler, Joan M., Sun, Angela, Tabor, Holly K., Tan, Amelia L. M., Telischi, Fred, Tifft, Cynthia J., Toro, Camilo, Tucker, Brianna M., Vogel, Tiphanie P., Wambach, Jennifer, Wang, Lee‐kai, Wegner, Daniel, Wenger, Tara, Westerfield, Monte, Wolfe, Lynne A., Zein, Wadih, Zuchner, Stephan

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  10. 10

    De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities by Benke, Paul J., Emrick, Lisa, Fisher, Kristen, Adam, Margaret, Alvarez, Raquel L., Alvey, Justin, Ashley, Euan A., Bacino, Carlos A., Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Beggs, Alan H., Bejerano, Gill, Bennett, Jimmy, Bernstein, Jonathan A., Blue, Elizabeth, Burke, Elizabeth A., Burrage, Lindsay C., Byers, Peter, Carey, John, Cassini, Thomas, Chang, Ta Chen Peter, Coakley, Terra R., Cobban, Laurel A., Cole, F. Sessions, Colley, Heather A., Corona, Rosario, Crouse, Andrew B., Dai, Hongzheng, Davis, Joie, Dell'Angelica, Esteban C., Dickson, Patricia, 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, Jayadev, Suman, Jean‐Marie, Orpa, Jobanputra, Vaidehi, Karaviti, Lefkothea, Korrick, Susan, Krasnewich, Donna M., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Liu, Pengfei, Longo, Nicola, Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., Maduro, Valerie V., Maghiro, Audrey Stephannie, Manolio, Teri A., Marwaha, Shruti, McConkie‐Rosell, Allyn, Mirzaa, Ghayda, Morava, Eva, Nicholas, Sarah K., Nickerson, Deborah, Pallais, J. Carl, Phillips, John A., Raskind, Wendy, Rosenfeld, Jill A., Rosenwasser, Natalie, Sampson, Jacinda B., Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Solnica‐Krezel, Lilianna, Solomon, Ben, Sullivan, Kathleen, Sweetser, David A., Tan, Amelia L. M., Tarakad, Arjun, Vanderver, Adeline, Velinder, Matt, Walley, Nicole M., Wambach, Jennifer, Ward, Patricia A., Hubshman, Monika Weisz, Yamamoto, Shinya, Zhang, Zhe, Zuchner, Stephan, Glaser, Kimberly, Murdock, David R., Rohena, Luis, Diderich, Karin E. M., Lee, Brendan

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  11. 11

    H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome by Bivona, Stephanie, Peart, LéShon, Guo, Shengru, Adam, Margaret, Agrawal, Pankaj B., Alvey, Justin, Balasubramanyam, Ashok, Bayrak‐Toydemir, Pinar, Beck, Anita, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Butte, Manish J., Chanprasert, Sirisak, Clark, Gary D., Coggins, Matthew, Cope, Heidi, Craigen, William J., Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Ferreira, Carlos, Fisher, Paul G., Gahl, William A., Goldman, Alica M., Goldstein, David B., Grajewski, Alana, Groden, Catherine A., Hamid, Rizwan, Hanchard, Neil A., Hassey, Kelly, Hayes, Nichole, Horike‐Pyne, Martha, Huang, Alden, Huang, Yong, Huryn, Laryssa, Isasi, Rosario, Jarvik, Gail P., Kennedy, Jennifer, Kiley, Dana, Kohane, Isaac S., Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Korrick, Susan, Koziura, Mary, Krier, Joel B., Lalani, Seema R., Lam, Christina, LaMoure, Grace L., Lee, Brendan H., Lincoln, Sharyn A., Loo, Sandra K., Maduro, Valerie V., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Martin, Beth A., Marwaha, Shruti, Mefford, Heather, Morava, Eva, Mulvihill, John J., Nakano‐Okuno, Mariko, Nath, Avi, Nickerson, Deborah, Nieves‐Rodriguez, Shirley, Pallais, J. Carl, Raskind, Wendy, Renteria, Genecee, Ruzhnikov, Maura, Samson, Susan L., Shashi, Vandana, Silverman, Edwin K., Sisco, Kathy, Solnica‐Krezel, Lilianna, Solomon, Ben, Sun, Angela, Sweetser, David A., Tan, Queenie K.‐G., Thorson, Willa, Thurm, Audrey, Tran, Alyssa A., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Wallace, Stephanie, Walsh, Chris A., Wambach, Jennifer, Wan, Jijun, Ward, Patricia A., Wener, Mark, Wenger, Tara, Yang, John, Yousef, Muhammad

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  12. 12

    Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples by Tan, Queenie K.‐G., Palmer, Christina G. S., Adams, David R., Azamian, Mahshid S., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bayrak‐Toydemir, Pinar, Beck, Anita, Berg‐Rood, Beverly, Berry, Gerard T., Bican, Anna, Bohnsack, John, Boyd, Brenna, Briere, Lauren C., Burke, Elizabeth A., Burrage, Lindsay C., Byrd, William E., Carey, John, Sessions Cole, F., Craigen, William J., Davids, Mariska, Dorrani, Naghmeh, Earl, Dawn, Ferreira, Carlos, Fisher, Paul G., Gahl, William A., Godfrey, Rena A., Goldman, Alica M., Gutierrez, Irma, Hassey, Kelly, Hayes, Nichole, Hom, Jason, Horike‐Pyne, Martha, Huang, Alden, Isasi, Rosario, Johnston, Jean M., Kennedy, Jennifer, Kiley, Dana, Krasnewich, Donna M., Krier, Joel B., Lee, Hane, Lincoln, Sharyn A., Liu, Xue Zhong, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Mak, Bryan, Markello, Thomas C., Marom, Ronit, Marth, Gabor, Martínez‐Agosto, Julian A., McGee, Elisabeth, Lawrence Merritt, J., Might, Matthew, Mirzaa, Ghayda, Moretti, Paolo M., Morimoto, Marie, Murdock, David R., Newman, John H., Nickerson, Deborah, Nieves‐Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Carl Pallais, J., Papp, Jeanette C., Phillips, John A., Posey, Jennifer E., Raskind, Wendy, Renteria, Genecee, Rives, Lynette, Rodan, Lance H., Rosenfeld, Jill A., Sampson, Jacinda B., Ron Scott, C., Schedl, Timothy, Scott, Daryl A., Sillari, Catherine H., Sinsheimer, Janet S., Stoler, Joan M., Sullivan, Jennifer A., Sun, Angela, Sutton, Shirley, Tabor, Holly K., Tamburro, Cecelia P., Thorson, Willa, Tran, Alyssa A., Tucker, Brianna M., Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Walsh, Chris A., Wang, Lee‐kai, Wangler, Michael F., Wener, Mark, Perry, Katherine Wesseling, Wheeler, Matthew T., Whitlock, Jordan, Woods, Jeremy D.

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  13. 13

    Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice by LeBlanc, Kimberly, Acosta, Maria T, Adams, David R., Bacino, Carlos A., Bademci, Guney, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Beggs, Alan H., Bejerano, Gill, Bivona, Stephanie, Blue, Elizabeth, Bonnenmann, Carsten, Brokamp, Elly, Butte, Manish J., Byrd, William E., Chang, Ta Chen Peter, Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Colley, Heather A., Cooper, Cynthia M., Cunningham, Michael, Dasari, Surendra, Dayal, Jyoti G., Deardorff, Matthew, Dell'Angelica, Esteban C., Duncan, Laura, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Estwick, Tyra, Fieg, Elizabeth L., Findley, Laurie C., Fresard, Laure, Goldstein, David B., Grajewski, Alana, Gropman, Andrea L., Hahn, Sihoun, Hamid, Rizwan, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Huang, Yong, Jarvik, Jeffrey, Kohane, Isaac S., Kohler, Jennefer N., Krakow, Deborah, Kravets, Elijah, Koziura, Mary, Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lau, C. Christopher, Lee, Brendan H., Lewis, Richard A., Maduro, Valerie V., Mamounas, Laura A., Maravilla, Kenneth, Marom, Ronit, McCormack, Colleen E., McCray, Alexa T., Mefford, Heather, Merritt, J. Lawrence, Nicholas, Sarah K., Pak, Stephen, Pallais, J. Carl, Palmer, Christina G.S., Parker, Neil H., Raskind, Wendy, Rao, Deepak A., Sacco, Ralph, Scott, C. Ron, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Sharma, Prashant, Shin, Jimann, Sillari, Catherine H., Sinsheimer, Janet S., Smith, Kevin S., Stoler, Joan M., Sullivan, Jennifer A., Sun, Angela, Tamburro, Cecelia P., Telischi, Fred, Toro, Camilo, Vogel, Tiphanie P., Wahl, Colleen E., Perry, Katherine Wesseling, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Woods, Jeremy D., Yamamoto, Shinya, Yu, Guoyun, Zhao, Chunli

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  14. 14

    Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease by Adams, David R., Bademci, Guney, Baker, Eva, Baldridge, Dustin, Bale, Jim, Barbouth, Deborah, Beck, Anita, Berg‐Rood, Beverly, Berry, Gerard T., Brokamp, Elly, Burke, Elizabeth A., Burrage, Lindsay C., Byers, Peter, Carey, John, Chang, Ta Chen Peter, Coakley, Terra R., Colley, Heather A., Cooper, Cynthia M., Dasari, Surendra, Dayal, Jyoti G., Duncan, Laura, Eng, Christine M., Esteves, Cecilia, Fernandez, Liliana, Fieg, Elizabeth L., Forghani, Irman, Glass, Ian, Gochuico, Bernadette, Golden‐Grant, Katie, Goldrich, Madison P., Grajewski, Alana, Hahn, Sihoun, Hamid, Rizwan, Hing, Anne, Holm, Ingrid A., Huang, Yong, Jamal, Fariha, Jayadev, Suman, Kohane, Isaac S., Kohler, Jennefer N., Kravets, Elijah, Lam, Byron, Lam, Christina, Lee, Hane, Levitt, Roy, Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Maas, Richard L., Macnamara, Ellen F., Maduro, Valerie V., Manolio, Teri A., Marth, Gabor, Martínez‐Agosto, Julian A., McCauley, Jacob, McConkie‐Rosell, Allyn, McGee, Elisabeth, Might, Matthew, Moretti, Paolo M., Mosbrook‐Davis, Deborah, Nagy, Anna, Nelson, Stan F., Nicholas, Sarah K., Orengo, James P., Pace, Laura, Pallais, J. Carl, Parker, Neil H., Phillips, John A., Power, Bradley, Pusey, Barbara N., Quinlan, Aaron, Rao, Deepak A., Robertson, Amy K., Rosenwasser, Natalie, Rossignol, Francis, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Scott, C. Ron, Scott, Daryl A., Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Solem, Emily, Stoler, Joan M., Sullivan, Jennifer A., Tifft, Cynthia J., Toro, Camilo, Vanderver, Adeline, Vogel, Tiphanie P., Walker, Melissa, Wambach, Jennifer, Wang, Lee‐kai, Ward, Patricia A., Wegner, Daniel, Wenger, Tara, Westerfield, Monte, Wolfe, Lynne A., Woods, Jeremy D., Yang, John

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