Two-stage anaerobic treatment of purified terephthalic acid production wastewaters von YOUNG, J. C, KIM, I. S, PAGE, I. C, WILSON, D. R, BROWN, G. J, COCCI, A. A

Volltext

Case history — Two stage, low-rate anaerobic treatment facility for South American alcochemical/citric acid wastewater von Wilson, D.R., Page, I.C., Cocci, A.A., Landine, R.C.

Volltext

Case history - two stage, low-rate anaerobic treatment facility for South American alcochemical/citric acid wastewater von Wilson, D. R., Page, I. C., Cocci, A. A., Landine, R. C.

Volltext

Learning to Become a Taste Expert von LATOUR, KATHRYN A., DEIGHTON, JOHN A.

Volltext

Operational Deficiencies At Small Wastewater Treatment Facilities In New Brunswick, Canada von Page, I C, Lin, K C

Volltext

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

Volltext

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

Volltext

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care von 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

Volltext

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.

Volltext

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

Volltext

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.

Volltext

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

Volltext

LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants von Lu, Jinfeng, Toro, Camilo, Adams, David R, Moreno, Cristiane Araujo Martins, Lee, Wan-Ping, Leung, Yuk Yee, Harms, Mathew B, Vardarajan, Badri, Heinzen, Erin L

Volltext

Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy von Schoch, Kelly, Kranz, Peter G., Markert, M. Louise, Arbogast, Thomas, Muraresku, Colleen, Adams, David R., Alvarez, Raquel L., Balasubramanyam, Ashok, Bamshad, Michael, Beck, Anita, Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Brown, Gabrielle, Butte, Manish J., Byrd, William E., Carrasquillo, Olveen, Cassini, Thomas, Chanprasert, Sirisak, Chinn, Ivan, Clark, Gary D., Coggins, Matthew, Cope, Heidi, Craigen, William J., D’Souza, Precilla, Dipple, Katrina, Doherty, Daniel, Fisher, Paul G., Fogel, Brent L., Glass, Ian, Gochuico, Bernadette, Godfrey, Rena A., Hahn, Sihoun, Hamid, Rizwan, Introne, Wendy, Jamal, Fariha, Jean-Marie, Orpa, Kobren, Shilpa N., Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, LeBlanc, Kimberly, Lee, Brendan H., Loo, Sandra K., Loscalzo, Joseph, Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Marom, Ronit, Martínez-Agosto, Julian A., McConkie-Rosell, Allyn, Merritt, J. Lawrence, Might, Matthew, Mulvihill, John, Newman, John H., Nieves-Rodriguez, Shirley, Orengo, James P., Pace, Laura, Papp, Jeanette C., Parker, Neil H., Pusey Swerdzewski, Barbara N., Quinlan, Aaron, Raper, Anna, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rossignol, Francis, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schoch, Kelly, Scott, C. Ron, Seto, Elaine, Sinsheimer, Janet S., Solnica-Krezel, Lilianna, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Jennifer A., Sun, Angela, Sutton, Shirley, Tabor, Holly K., Tan, Queenie K.-G., Telischi, Fred, Tifft, Cynthia J., Urv, Tiina K., Wahl, Colleen E., Wang, Lee-kai, Wangler, Michael F., Wheeler, Matthew T., Worley, Kim, Xiao, Changrui, Yamamoto, Shinya, Tyndall, Amanda V., Woodward, Kristine E., Wright, Nicola A.M., Davis, Erica E.

Volltext

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

Volltext

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

Volltext

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

Volltext

Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network von 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

Volltext

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

Volltext

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

Volltext