Treffer 1 - 13 von 13 für Suche 'Wolfe, Laura Grace', Suchdauer: 1,10s Treffer weiter einschränken
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    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.

    Veröffentlicht in Genetics in medicine

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    Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain von Erger, Florian, Settas, Nikolaos, London, Edra, Torti, Erin, Nelson, Stanley F., Acosta, Maria T., Adams, David R., Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Bayrak-Toydemir, Pinar, Beck, Anita, Bennett, Jimmy, Bernstein, Jonathan A., Blue, Elizabeth, Bohnsack, John, Bonnenmann, Carsten, Boyd, Brenna, Brokamp, Elly, Burke, Elizabeth A., Byrd, William E., Carrasquillo, Olveen, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Coggins, Matthew, Cole, F. Sessions, Crouse, Andrew B., Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dipple, Katrina, Doherty, Daniel, Earl, Dawn, Eckstein, David J., Eng, Christine M., Ferreira, Carlos, Glass, Ian, Gochuico, Bernadette, Goldman, Alica M., Goldstein, David B., Hassey, Kelly, Hom, Jason, Huang, Yong, Jarvik, Gail P., Jarvik, Jeffrey, Krasnewich, Donna M., LaMoure, Grace L., Lalani, Seema R., Lanpher, Brendan C., Latham, Lea, Liu, Pengfei, Liu, Xue Zhong, Macnamara, Ellen F., Malicdan, May Christine V., Manolio, Teri A., Maravilla, Kenneth, Marom, Ronit, Martin, Beth A., Marwaha, Shruti, McCormack, Colleen E., McGee, Elisabeth, Might, Matthew, Nakano-Okuno, Mariko, Nath, Avi, Nicholas, Sarah K., Novacic, Donna, Orengo, James P., Pallais, J. Carl, Palmer, Christina G.S., Parker, Neil H., Posey, Jennifer E., Quinlan, Aaron, Reuter, Chloe M., Robertson, Amy K., Ruzhnikov, Maura, Samson, Susan L., Saporta, Mario, Schaechter, Judy, Signer, Rebecca H., Smith, Kevin S., Ben Solomon, Stoler, Joan M., Sullivan, Jennifer A., Sullivan, Kathleen, Sun, Angela, Tabor, Holly K., Tucker, Brianna M., Vanderver, Adeline, Wallace, Stephanie, Wangler, Michael F., Ward, Patricia A., Whitlock, Jordan, Wolfe, Lynne A., Woods, Jeremy D., Zastrow, Diane B., Grange, Dorothy K., Willaert, Rebecca, Theiß, Susanne, Stocco, Amber

    Veröffentlicht in Genetics in medicine

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    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

    Veröffentlicht in Genetics in medicine

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    De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome von Chen, Yuyang, Kim, Hyung Chul, Ljungdahl, Alicia, Stenton, Sarah L., Lord, Jenny, Lemire, Gabrielle, Martin-Geary, Alexandra C., Ganesh, Vijay S., Ma, Jialan, Ellingford, Jamie M., Delage, Erwan, D’Souza, Elston N., Dong, Shan, Adams, David R., Allan, Kirsten, Bakshi, Madhura, Baldwin, Erin E., Berger, Seth I., Brown, Natasha J., Burrage, Lindsay C., Chapman, Kimberly, Coman, David J., Compton, Alison G., Cunningham, Chloe A., D’Souza, Precilla, Danecek, Petr, Délot, Emmanuèle C., Dias, Kerith-Rae, Elias, Ellen R., Elmslie, Frances, Evans, Care-Anne, Ezell, Kimberly, Fraser, Jamie L., Gallacher, Lyndon, Genetti, Casie A., Grant, Christina L., Haack, Tobias, Higgs, Jenny E., Hinch, Anjali G., Hurles, Matthew E., Kuechler, Alma, Lecoquierre, François, Fevre, Anna Le, Leventer, Richard J., Liebelt, Jan E., Lindsay, Sarah, Lockhart, Paul J., Ma, Alan S., Macnamara, Ellen F., Mendez, Hector R., Metcalfe, Kay, Montgomery, Stephen B., Moosajee, Mariya, Nassogne, Marie-Cécile, Neumann, Serena, O’Donoghue, Michael, O’Leary, Melanie, Palmer, Elizabeth E., Pattani, Nikhil, Pitsava, Georgia, Pysar, Ryan, Rehm, Heidi L., Reuter, Chloe M., Revencu, Nicole, Riess, Angelika, Rodan, Lance, Roscioli, Tony, Rosenfeld, Jill A., Sachdev, Rani, Shaw-Smith, Charles J., Simons, Cas, Sisodiya, Sanjay M., Snell, Penny, St Clair, Laura, Stewart, Helen S., Tan, Natalie B., Temple, Suzanna E. L., Thorburn, David R., Tifft, Cynthia J., VanNoy, Grace E., Vilain, Eric, Viskochil, David H., Wedd, Laura, Wheeler, Matthew T., White, Susan M., Wojcik, Monica, Wolfe, Lynne A., Wolfenson, Zoe, Wright, Caroline F., Xiao, Changrui, Zocche, David, Rubenstein, John L., Markenscoff-Papadimitriou, Eirene, Fica, Sebastian M., Baralle, Diana, Depienne, Christel, MacArthur, Daniel G., Sanders, Stephan J., O’Donnell-Luria, Anne, Whiffin, Nicola

    Veröffentlicht in Nature (London)

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    Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation von Kelley, Emily G., Boyd, Brenna M., Acosta, Maria T, Adams, David R, Amendola, Laura, Andrews, Ashley, Baker, Eva, Bale, Jim, Beggs, Alan H, Behrens, Edward, Bejerano, Gill, Bennet, Jimmy, Berry, Gerard T, Blue, Elizabeth, Bonnenmann, Carsten, Bonner, Devon, Brokamp, Elly, Brown, Gabrielle, Burrage, Lindsay C, Carrasquillo, Olveen, Chao, Hsiao‐Tuan, Sessions Cole, F, Cooper, Cynthia M, Crouse, Andrew B, Dai, Hongzheng, Davis, Joie, Dayal, Jyoti G, Deardorff, Matthew, Dhar, Shweta U, Doherty, Daniel, Duncan, Laura, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Esteves, Cecilia, Falk, Marni, Fisher, Paul G, Fogel, Brent L, Forghani, Irman, Fresard, Laure, Gahl, William A, Glass, Ian, Godfrey, Rena A, Golden‐Grant, Katie, Goldrich, Madison P, Groden, Catherine A, Gutierrez, Irma, Hahn, Sihoun, Hayes, Nichole, Hing, Anne, Isasi, Rosario, Karaviti, Lefkothea, Kiley, Dana, Kobren, Shilpa N, Kohler, Jennefer N, Krasnewich, Donna M, Krier, Joel B, Latham, Lea, Lee, Hane, Liu, Xue Zhong, Maas, Richard L, Mak, Bryan C, Maclidan, May Christine V., Martínez‐Agosto, Julian A, McGee, Elisabeth, Might, Matthew, Moretti, Paolo M, Nicholas, Sarah K, Novacic, Donna, Pace, Laura, Papp, Jeanette C, Phillips, John A, Posey, Jennifer E, Potocki, Lorraine, Quinlan, Aaron, Rao, Deepak A, Rives, Lynette, Rosenfeld, Jill A, Smith, Edward C, Spillmann, Rebecca C, Stoler, Joan M, Sybert, Virginia, Tekin, Mustafa, Thorson, Willa, Thurm, Audrey, Toro, Camilo, Tucker, Brianna M, Vanderver, Adeline, Velinder, Matt, Vogel, Tiphanie P, Wallace, Stephanie, Walley, Nicole M, Walker, Melissa, Wambach, Jennifer, Wan, Jijun, Wangler, Michael F, Wener, Mark, Wenger, Tara, Yang, John, Yousef, Muhammad

    Veröffentlicht in Journal of genetic counseling

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    Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey von Cope, Heidi, Hoppman, Nicole, Rehder, Catherine, Alkelai, Anna, Vilain, Eric, Shashi, Vandana, Acosta, Maria T, Adams, David R, Amendola, Laura, Andrews, Ashley, Bacino, Carlos A., Baker, Eva, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bernstein, Jonathan A., Bonner, Devon, Brokamp, Elly, Brown, Gabrielle, Carrasquillo, Olveen, Chao, Hsiao‐Tuan, Cobban, Laurel A., Cogan, Joy D., Crouse, Andrew B., Cunningham, Michael, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Deardorff, Matthew, Douine, Emilie D., Draper, David D., Fieg, Elizabeth L., Findley, Laurie C., Fogel, Brent L., Fresard, Laure, Golden‐Grant, Katie, Goldrich, Madison P, Grajewski, Alana, High, Frances, Hisama, Fuki M., Holm, Ingrid A., Isasi, Rosario, Jarvik, Gail P., Jayadev, Suman, Karaviti, Lefkothea, Kohane, Isaac S., Kohler, Jennefer N., Kravets, Elijah, Lam, Byron, Lam, Christina, Lee, Hane, Levitt, Roy, Liu, Pengfei, Longo, Nicola, Majcherska, Marta M., Manolio, Teri A., Mao, Rong, Martínez‐Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Mirzaa, Ghayda, Mosbrook‐Davis, Deborah, Newman, John H, Nickerson, Deborah, Nieves‐Rodriguez, Shirley, Orengo, James P., Parker, Neil H., Phillips, John A., Posey, Jennifer E., Potocki, Lorraine, Raskind, Wendy, Raja, Archana N., Rosenfeld, Jill A., Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schoch, Kelly, Signer, Rebecca, Sisco, Kathy, Smith, Edward C., Spillmann, Rebecca C., Sullivan, Kathleen, Tabor, Holly K., Tifft, Cynthia J., Tucker, Brianna M., Urv, Tiina K., Vogel, Tiphanie P., Walsh, Chris A., Walker, Melissa, Wan, Jijun, Wangler, Michael F., Wener, Mark, Wheeler, Matthew T., Whitlock, Jordan, Yang, John, Zhao, Chunli


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