Search Results - Coggins, Ashley N

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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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    Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant by Stellacci, Emilia, Stevenson, David, Moslehi, Dorsa, Adams, David R., Afzali, Ben, Allworth, Aimee, Alvey, Justin, Ashley, Euan A., Bacino, Carlos A., Baldwin, Erin, Bale, Jim, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bernstein, Jonathan A., Blue, Elizabeth, Burke, Elizabeth A., Burrage, Lindsay C., Byrd, William E., Carey, John, Cassini, Thomas, Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Corona, Rosario I., Cuddapah, Vishnu, D'Souza, Precilla, Dasari, Surendra, Dell'Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Earl, Dawn, Esteves, Cecilia, 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, Horike‐Pyne, Martha, Hurst, Anna, Jean‐Marie, Orpa, Jobanputra, Vaidehi, Kanca, Oguz, Kiley, Dana, Korf, Bruce, Krakow, Deborah, Lam, Christina, Lee, Brendan H., Leppig, Kathleen A., Longo, Nicola, Macnamara, Ellen F., Mao, Rong, Marth, Gabor, Martínez‐Agosto, Julian A., McConkie‐Rosell, Allyn, McMinn, Ashley, Mikati, Mohamad, Mitchell, Breanna, Morimoto, Marie, Mulvihill, John J., Orengo, James P., Petcharet, Leoyklang, Phillips, John A., Swerdzewski, Barbara N. Pusey, Quinlan, Aaron, Rajagopalan, Ramakrishnan, Rao, Deepak A., Raper, Anna, Rebelo, Adriana, Reuter, Chloe M., Rives, Lynette, Rosenthal, Elizabeth, Sampson, Jacinda B., Schedl, Timothy, Schoch, Kelly, Seto, Elaine, Shashi, Vandana, Sheppeard, Sam, Sirugo, Giorgio, Smith, Carson A., Solomon, Ben, Sullivan, Kathleen, Sybert, Virginia, Taylor, Herman, Tekin, Mustafa, Toro, Camilo, Ungar, Rachel A., Wahl, Colleen E., Walker, Melissa, Wegner, Daniel, Hubshman, Monika Weisz, Wheeler, Matthew T., Bernstein, Jonathan A.

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    Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy by 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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    Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant by 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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    Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy by Donkervoort, Sandra, Mohassel, Payam, Brull, Astrid, Mozaffar, Tahseen, Dyment, David A., Pajusalu, Sander, Hurth, Kyle, McWalter, Kirsty, Warman‐Chardon, Jodi, Crunk, Amy, Foley, A. Reghan, Allworth, Aimee, Andrews, Ashley, Bacino, Carlos A., Bademci, Guney, Baldridge, Dustin, Bale, Jim, Barbouth, Deborah, Beggs, Alan H., Berry, Gerard T., Bivona, Stephanie, Blue, Elizabeth, Brown, Gabrielle, Butte, Manish J., Cassini, Thomas, Chao, Hsiao‐Tuan, Chinn, Ivan, Cogan, Joy D., Coggins, Matthew, Corona, Rosario, Crouse, Andrew B., Dai, Hongzheng, Davis, Joie, Douine, Emilie D., Emrick, Lisa T., Fu, Jiayu, Hamid, Rizwan, High, Frances, Hing, Anne, Hisama, Fuki M., Horike‐Pyne, Martha, Huang, Yan, Hutchison, Sarah, Kilich, Gonench, Kobren, Shilpa N., Krakow, Deborah, Krasnewich, Donna M., Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., Liu, Pengfei, Longo, Nicola, Maduro, Valerie V., Manolio, Teri A., Mao, Rong, Marom, Ronit, Martin, Beth A., Martin, Martin G., Marwaha, Shruti, McConkie‐Rosell, Allyn, McGee, Elisabeth, Miller, Danny, Mirzaa, Ghayda, Nakano‐Okuno, Mariko, Nelson, Stanley F., Nieves‐Rodriguez, Shirley, Pallais, J. Carl, Petcharet, Leoyklang, Phillips, John A., Quinlan, Aaron, Rosenfeld, Jill A., Sabaii, Marla, Scott, Daryl A., Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Sisco, Kathy, Solomon, Ben, Sullivan, Kathleen, Sutton, Shirley, Tan, Queenie K.‐G., Amelia, L. M. Tan, Taylor, Herman, Tekin, Mustafa, Toro, Camilo, Ungar, Rachel A., Vanderver, Adeline, Walker, Melissa, Wang, Lee‐kai, Wangler, Michael F., Wegner, Daniel, Wener, Mark, Westerfield, Monte, Whitlock, Jordan, Wolfe, Lynne A., Worley, Kim, Yamamoto, Shinya, Zhang, Zhe, Mammen, Andrew L., O'Donnell‐Luria, Anne

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    Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism by Rebelo, Adriana P., Jeanne, Médéric, Danzi, Matt C., Tekin, Mustafa, Acosta, Maria T., Andrews, Ashley, Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bayrak‐Toydemir, Pinar, Beck, Anita, Bennett, Jimmy, Berry, Gerard T., Bican, Anna, Bohnsack, John, Bonner, Devon, Butte, Manish J., Byrd, William E., Cassini, Thomas, Chao, Hsiao‐Tuan, Coakley, Terra R., Cobban, Laurel A., Cole, F. Sessions, Colley, Heather A., Corner, Brian, Dai, Hongzheng, Davis, Joie, Delgado, Margaret, Douine, Emilie D., Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Fisher, Paul G., Fogel, Brent L., Fu, Jiayu, Glass, Ian, Gropman, Andrea, Halley, Meghan C., Hassey, Kelly, Hayes, Nichole, Horike‐Pyne, Martha, Huang, Alden, Izumi, Kosuke, Jean‐Marie, Orpa, Jobanputra, Vaidehi, Ketkar, Shamika, Kohler, Jennefer N., Kravets, Elijah, Lalani, Seema R., Latchman, Kumarie, LeBlanc, Kimberly, Lewis, Richard A., Liu, Pengfei, Loo, Sandra K., MacRae, Calum A., Maghiro, AudreyStephannie C., Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Marth, Gabor, Martínez‐Agosto, Julian A., McConkie‐Rosell, Allyn, Morava, Eva, Moretti, Paolo, Morimoto, Marie, Neumann, Serena, Novacic, Donna, Oglesbee, Devin, Papp, Jeanette C., Petcharet, Leoyklang, Posey, Jennifer E., Potocki, Lorraine, Rao, Deepak A., Raskind, Wendy, Rosenfeld, Jill A., Sabaii, Marla, Scott, Daryl A., Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Sisco, Kathy, Smith, Edward C., Smith, Carson A., Smith, Kevin S., Solomon, Ben, Stergachis, Andrew, Sullivan, Kathleen, Tabor, Holly K., Tan, Queenie K.‐G., Thorson, Willa, Viskochil, Dave, Walker, Melissa, Walley, Nicole M., Wambach, Jennifer, Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wenger, Tara, Westerfield, Monte, Worley, Kim

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    DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature by Macnamara, Ellen F., D'Souza, Precilla, Vezina, Gilbert, Tifft, Cynthia J., Adams, David R., Azamian, Mahshid S., Baldridge, Dustin, Bayrak‐Toydemir, Pinar, Beck, Anita, Berry, Gerard T., Bican, Anna, Bohnsack, John, Boyd, Brenna, Briere, Lauren C., Burke, Elizabeth A., Burrage, Lindsay C., Byrd, William E., Carey, John, Craigen, William J., Cunningham, Michael, Dayal, Jyoti G., Deardorff, Matthew, Doherty, Daniel, Dorrani, Naghmeh, Douine, Emilie D., Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Ferreira, Carlos, Fieg, Elizabeth L., Forghani, Irman, Fresard, Laure, Gahl, William A., Glass, Ian, Goldman, Alica M., Goldstein, David B., Groden, Catherine A., Hassey, Kelly, Horike‐Pyne, Martha, Huang, Alden, Huang, Yong, Jarvik, Gail P., Jarvik, Jeffrey, Johnston, Jean M., Kohane, Isaac S., Krakow, Deborah, Kravets, Elijah, Korrick, Susan, Koziura, Mary, Krier, Joel B., Lalani, Seema R., Lam, Christina, Lanpher, Brendan C., Lincoln, Sharyn A., Loo, Sandra K., Loscalzo, Joseph, MacRae, Calum A., Malicdan, May Christine V., Mamounas, Laura A., Markello, Thomas C., Martin, Martin G., McCormack, Colleen E., McGee, Elisabeth, Merritt, J. Lawrence, Might, Matthew, Mulvihill, John J., Nelson, Stan F., Nicholas, Sarah K., Orengo, James P., Pace, Laura, Pak, Stephen, Pusey, Barbara N., Quinlan, Aaron, Raskind, Wendy, Sacco, Ralph, Saporta, Mario, Ron Scott, C., Schaechter, Judy, Schoch, Kelly, Sharma, Prashant, Shin, Jimann, Sillari, Catherine H., Sisco, Kathy, Smith, Kevin S., Stoler, Joan M., Stong, Nicholas, Tamburro, Cecelia P., Tekin, Mustafa, Tifft, Cynthia J., Toro, Camilo, Tucker, Brianna M., Vogel, Tiphanie P., Wambach, Jennifer, Wang, Lee‐kai, Wegner, Daniel, Wenger, Tara, Wesseling Perry, Katherine, Westerfield, Monte, Wolfe, Lynne A., Zuchner, Stephan

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