The c-myc proto-oncogene regulates cardiac development in transgenic mice von JACKSON, T, ALLARD, M. F, SREENAN, C. M, DOSS, L. K, BISHOP, S. P, SWAIN, J. L

Volltext

Transgenic animals as a tool studying the effect of the c-myc proto-oncogene on cardiac development von JACKSON, T, ALLARD, M. F, SREENAN, C. M, DOSS, L. K, BISHOP, S. P, SWAIN, J. L

Volltext

Alterations in dietary sodium affect isoproterenol-induced cardiac hypertrophy von Allard, Michael F., DeVenny, Michael F., Doss, Lisa K., Grizzle, William E., Bishop, Sanford P.

Volltext

The c-myc Proto-Oncogene Regulates Cardiac Development in Transgenic Mice von Jackson, Twila, Allard, Michael F., Sreenan, Catherine M., Doss, Lisa K., Bishop, Sanford P., Swain, Judith L.

Volltext

A Randomized Controlled Trial of the Web-Based OurRelationship Program: Effects on Relationship and Individual Functioning von Doss, Brian D., Cicila, Larisa N., Georgia, Emily J., Roddy, McKenzie K., Nowlan, Kathryn M., Benson, Lisa A., Christensen, Andrew

Volltext

Engaged Learning: Impact of PBL and PjBL with Elementary and Middle Grade Students von Bloom, Lisa, Doss, Kristy K, Dole, Sharon

Volltext

SYNTAX Score and Long-Term Outcomes: The BARI-2D Trial von Ikeno, Fumiaki, Brooks, Maria Mori, Nakagawa, Kaori, Kim, Min-Kyu, Kaneda, Hideaki, Mitsutake, Yoshiaki, Vlachos, Helen A, Schwartz, Leonard, Frye, Robert L, Kelsey, Sheryl F, Waseda, Katsuhisa, Hlatky, Mark A

Volltext

Variations in concerns reported on the patient concerns inventory in patients with head and neck cancer from different health settings across the world von Rogers, Simon N., Alvear, Alvaro, Anesi, Alexandre, Babin, Emmanuel, Balik, Ali, Batstone, Martin, Brockmeyer, Phillipp, Carrasco, Claudia Celedon, Chien, Chih‐Yen, Chirila, Magdalena, Dholam, Kanchan P., Doss, Jennifer G., Finizia, Caterina, Ghani, Wan M. Nabilah, Gurav, Sandeep V., Kadir, Kathreena, Kolator, Mateusz, Lima, Roberto, Lin, Yu‐Tsai, Nhongo, Simon, Ozdemir‐Karatas, Meltem, Peker, Kadriye, Pesic, Zoran, Ransy, Pierre, Santos, Izabella, Schliephake, Henning, Shah, Ketan, Souza, Fernanda, Sunil, Geethu, Thankappan, Krishnakumar, Ehrsson, Ylva Tiblom, Tiple, Cristina, Tuomi, Lisa, Valerini, Sara, Lara, Pablo Vasquez, Zatoński, Tomasz, Lowe, Derek

Volltext

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

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

Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities von Atala, Kristhen, Dutta, Debdeep, Khanshour, Anas, Balasubramanyam, Ashok, Burrage, Lindsay C., Clark, Gary D., Ketkar, Shamika, Posey, Jennifer E., Rosenfeld, Jill A., Seto, Elaine, Scott, Daryl A., Tran, Alyssa A., Hubshman, Monika Weisz, Kanca, Oguz, Eng, Christine M., Falk, Marni, Hassey, Kelly, Zhang, Zhe, Mikati, Mohamad, Beggs, Alan H., Berry, Gerard T., Coggins, Matthew, Fieg, Elizabeth L., High, Frances, Holm, Ingrid A., Maas, Richard L., MacRae, Calum A., Pallais, J. Carl, Rao, Deepak A., Silverman, Edwin K., Sweetser, David A., Glanton, Emily, Maghiro, Audrey Stephannie C., McCray, Alexa T., Tan, Amelia L.M., Dasari, Surendra, Bademci, Guney, Barbouth, Deborah, Bivona, Stephanie, Borja, Nicholas, Gonzalez, Joanna M., Latchman, Kumarie, Tekin, Mustafa, Zuchner, Stephan, Gropman, Andrea, Macnamara, Ellen F., Maduro, Valerie V., Novacic, Donna, Toro, Camilo, Wahl, Colleen E., Adams, David R., Afzali, Ben, Burke, Elizabeth A., Fu, Jiayu, Wood, Heidi, Allworth, Aimee, Blue, Elizabeth, Chanprasert, Sirisak, Glass, Ian, Lam, Christina, Mirzaa, Ghayda, Raskind, Wendy, Alvarez, Raquel L., Bejerano, Gill, Bonner, Devon, Fisher, Paul G., Kohler, Jennefer N., Kravets, Elijah, Marwaha, Shruti, Ruzhnikov, Maura, Sutton, Shirley, Ungar, Rachel A., Crouse, Andrew B., Whitlock, Jordan, Butte, Manish J., Corona, Rosario, Dell'Angelica, Esteban C., Dorrani, Naghmeh, Fogel, Brent L., McGee, Elisabeth, Nieves-Rodriguez, Shirley, Alvey, Justin, Bohnsack, John, Moretti, Paolo, Quinlan, Aaron, Marth, Gabor, Bican, Anna, Cassini, Thomas, Corner, Brian, Hamid, Rizwan, Rives, Lynette, Robertson, Amy K., Ezell, Kimberly, Cogan, Joy D., Hayes, Nichole, Wegner, Daniel, Cole, F. Sessions, Schedl, Timothy, Wangler, Michael F., Bellen, Hugo J.

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

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

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11 von Ravenscroft, Thomas A., Fieg, Elizabeth, Zirin, Jonathan, Kanca, Oguz, Adam, Margaret, Agrawal, Pankaj B., Alejandro, Mercedes E., Alvey, Justin, Andrews, Ashley, Azamian, Mahshid S., Bademci, Guney, Balasubramanya, Ashok, Behrens, Edward, Bican, Anna, Bohnsack, John, Botto, Lorenzo, Brown, Gabrielle, Byers, Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Cobban, Laurel A., Cogan, Joy D., Colley, Heather A., Cope, Heidi, Craigen, William J., Crouse, Andrew B., Dai, Hongzheng, Dayal, Jyoti G., Dipple, Katrina, Dorrani, Naghmeh, Draper, David D., Emrick, Lisa T., Falk, Marni, Fernandez, Liliana, Fieg, Elizabeth L., Findley, Laurie C., Gahl, William A., Godfrey, Rena A., Goldman, Alica M., Goldstein, David B., Hamid, Rizwan, Hanchard, Neil A., Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Huang, Yong, Huryn, Laryssa, Isasi, Rosario, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Kiley, Dana, Krasnewich, Donna M., Lam, Christina, Lee, Hane, MacDowall, John, Majcherska, Marta M., Mak, Bryan C., Mamounas, Laura A., Martínez-Agosto, Julian A., McCauley, Jacob, Mulvihill, John J., Newman, John H., Oglesbee, Devin, Pace, Laura, Pallais, J. Carl, Palmer, Christina GS, Posey, Jennifer E., Potocki, Lorraine, Power, Bradley, Pusey, Barbara N., Rives, Lynette, Sacco, Ralph, Sampson, Jacinda B., Samson, Susan L., Scott, C. Ron, Schedl, Timothy, Shashi, Vandana, Tan, Queenie K.-G., Toro, Camilo, Viskochil, Dave, Wahl, Colleen E., Wambach, Jennifer, Wang, Lee-kai, Wener, Mark, Perry, Katherine Wesseling, Westerfield, Monte, Whitlock, Jordan, Yamamoto, Shinya, Yang, John, Yousef, Muhammad, Zastrow, Diane B., Zhao, Chunli, Osmond, Matthew, Postlethwait, John H., Krier, Joel, Bellen, Hugo J.

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

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

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases von Krier, Joel B., Züchner, Stephan, Huang, Alden, Bastarache, Lisa, Bican, Anna, Liu, Pengfei, Adam, Margaret, Alejandro, Mercedes E., Alvey, Justin, Azamian, Mahshid S., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Bale, Jim, Beck, Anita, Bennett, Jimmy, Berry, Gerard T., Bican, Anna, Bohnsack, John, Bonner, Devon, Boyd, Brenna, Brown, Gabrielle, Burrage, Lindsay C., Butte, Manish J., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Cole, F. Sessions, Cunningham, Michael, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Eng, Christine M., Falk, Marni, Ferreira, Carlos, Findley, Laurie C., Fogel, Brent L., Forghani, Irman, Gahl, William A., Glass, Ian, Godfrey, Rena A., Hanchard, Neil A., Hing, Anne, Huryn, Laryssa, Isasi, Rosario, Kiley, Dana, Korrick, Susan, Krakow, Deborah, Lalani, Seema R., LeBlanc, Kimberly, Liu, Xue Zhong, MacDowall, John, MacRae, Calum A., Mamounas, Laura A., Maravilla, Kenneth, Markello, Thomas C., Martin, Beth A., Martin, Martin G., Marwaha, Shruti, McCauley, Jacob, Merritt, J. Lawrence, Might, Matthew, Moretti, Paolo, Murdock, David R., Nakano-Okuno, Mariko, Nickerson, Deborah, Oglesbee, Devin, Pace, Laura, Pallais, J. Carl, Papp, Jeanette C., Phillips, John A., Power, Bradley, Pusey, Barbara N., Raja, Archana N., Renteria, Genecee, Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sampson, Jacinda B., Schedl, Timothy, Shin, Jimann, Smith, Edward C., Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Toro, Camilo, Tucker, Brianna M., Velinder, Matt, Viskochil, Dave, Wambach, Jennifer, Wang, Lee-kai, Ward, Patricia A., Wener, Mark, Westerfield, Monte, Whitlock, Jordan, Woods, Jeremy D., Yamamoto, Shinya, Yang, John, Zein, Wadih

Volltext

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

Volltext