Treffer 1 - 17 von 17 für Suche 'Doherty, Gail F.', Suchdauer: 1,53s Treffer weiter einschränken
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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.

    Veröffentlicht in Genetics in medicine

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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

    Veröffentlicht in Genetics in medicine

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    Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis von Briere, Lauren C., Acosta, Maria T., Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bale, Jim, Barbouth, Deborah, Bennett, Jimmy, Bivona, Stephanie, Blue, Elizabeth, Burke, Elizabeth A., Byers, Peter, Peter Chang, Ta Chen, Chanprasert, Sirisak, Coakley, Terra R., Cogan, Joy D., Colley, Heather A., Cope, Heidi, Craigen, William J., Cunningham, Michael, Dasari, Surendra, Dell'Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Eng, Christine M., Fisher, Paul G., Gahl, William A., Glass, Ian, Gochuico, Bernadette, Hamid, Rizwan, Hayes, Nichole, Horike-Pyne, Martha, Isasi, Rosario, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jobanputra, Vaidehi, Kiley, Dana, Kohler, Jennefer N., Korrick, Susan, Lalani, Seema R., Lam, Byron, Lanpher, Brendan C., LeBlanc, Kimberly, Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Maas, Richard L., Macnamara, Ellen F., Mao, Rong, Marom, Ronit, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, Miller, Danny, Morava, Eva, Moretti, Paolo, Novacic, Donna, Orengo, James P., Pallais, J. Carl, Phillips, John A., Posey, Jennifer E., Potocki, Lorraine, Raskind, Wendy, Robertson, Amy K., Rosenfeld, Jill A., Rossignol, Francis, Ruzhnikov, Maura, Schaechter, Judy, Sisco, Kathy, Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stergachis, Andrew, Sullivan, Kathleen, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tarakad, Arjun, Thorson, Willa, Vanderver, Adeline, Velinder, Matt, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wenger, Tara, Wheeler, Matthew T., Yang, John, Zhang, Zhe, Zuchner, Stephan

    Veröffentlicht in Genetics in medicine

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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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    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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    Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism von 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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    Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy von 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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    Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome von Pujol‐Giménez, Jonai, Miller, Danny E., Allworth, Aimee, Chanprasert, Sirisak, Folta, Andrew B., Hing, Anne, Horike‐Pyne, Martha, Leppig, Kathleen A., Parhin, Azma, Rosenthal, Elisabeth A., Schwarze, Ulrike, Strohbehn, Samuel, Sybert, Virginia P., Timms, Andrew, Wener, Mark, Bamshad, Michael J., Bacus, Tamara J., Blue, Elizabeth E., Brower, Katherine, Sánchez, Diana Cornejo, Gomeztagle‐Burgess, Katherine, Hurless, Jameson R., Shively, Kathryn M., Weiss, Jeffrey M., Wheeler, Marsha M., Adam, Margaret, Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Barbouth, Deborah, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Bivona, Stephanie, Blue, Elizabeth, Bonner, Devon, Byers, Peter, Cassini, Thomas, Chang, Ta Chen Peter, Chanprasert, Sirisak, Clark, Gary D., Cole, F. Sessions, Corona, Rosario, Crouse, Andrew B., Cunningham, Michael, Dasari, Surendra, Dayal, Jyoti G., Emrick, Lisa T., Fisher, Paul G., Gahl, William A., Hadley, Don, Hahn, Sihoun, High, Frances, Hing, Anne, Hisama, Fuki M., Horike‐Pyne, Martha, Hutchison, Sarah, Izumi, Kosuke, Kohane, Isaac S., Kohler, Jennefer N., Lalani, Seema R., Lam, Byron, Lanpher, Brendan C., Lewis, Richard A., Liu, Xue Zhong, Maduro, Valerie V., Manolio, Teri A., McCauley, Jacob, McCray, Alexa T., Mefford, Heather, Moretti, Paolo, Nickerson, Deborah, Nieves‐Rodriguez, Shirley, Orengo, James P., Pak, Stephen, Papp, Jeanette C., Parker, Neil H., Phillips, John A., Rao, Deepak A., Raskind, Wendy, Renteria, Genecee, Rosenfeld, Jill A., Saporta, Mario, Schaechter, Judy, Scott, Daryl A., Sisco, Kathy, Spillmann, Rebecca C., Sullivan, Jennifer A., Tabor, Holly K., Tifft, Cynthia J., Ungar, Rachel A., Walker, Melissa, Wambach, Jennifer, Ward, Patricia A., Wegner, Daniel, Wener, Mark, Yamamoto, Shinya, Dipple, Katrina M., Stergachis, Andrew B.


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