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    Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region by Kelly, McKenna, Park, Meredith, Mihalek, Ivana, Pérez‐Palma, Eduardo, Anselm, Irina, Briere, Lauren C., High, Frances A., Sweetser, David A., Allard, Patrick, Ashley, Euan A., Bacino, Carlos A., Baker, Eva, Barseghyan, Hayk, Batzli, Gabriel F., Behnam, Babak, Bellen, Hugo J., Bernstein, Jonathan A., Bican, Anna, Bostwick, Bret L., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Clark, Gary D., Colley, Heather A., Cooper, Cynthia M., Davids, Mariska, Dell’Angelica, Esteban C., Dorrani, Naghmeh, Douine, Emilie D., Emrick, Lisa T., Fairbrother, Laura, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Fisher, Paul G., Friedman, Noah D., Gahl, William A., Gourdine, Jean‐Philippe F., Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hom, Jason, Howerton, Ellen M., Jamal, Fariha, Jiang, Yong‐hui, Johnston, Jean M., Jones, Angela L., Karaviti, Lefkothea, Koeller, David M., Kohane, Isaac S., Koziura, Mary, Lalani, Seema R., Lazar, Jozef, Levy, Shawn E., Lincoln, Sharyn A., Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, Martínez‐Agosto, Julian A., May, Thomas, Morimoto, Marie, Mulvihill, John J., Murphy, Jennifer L., Nelson, Stan F., Newman, John H., Novacic, Donna, Orange, Jordan S., Potocki, Lorraine, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Sampson, Jacinda B., Samson, Susan L., Schoch, Kelly, Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Spillmann, Rebecca C., Stong, Nicholas, Sullivan, Jennifer A., Waggott, Daryl M., Walsh, Chris A., Wangler, Michael F., Ward, Patricia A., Waters, Katrina M., Westerfield, Monte, Wheeler, Matthew T., Wise, Anastasia L., Worthey, Elizabeth A., Yoon, Amanda J., Zastrow, Diane B.

    Published in Epilepsia (Copenhagen)
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    Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes by Phillips, Jennifer B., Lanza, Denise G., Jain, Mahim, Raman, Vandana, Chitayat, David, Chinn, Ivan K., Bertuch, Alison A., Bamshad, Michael, Savarirayan, Ravi, Doddapaneni, Harsha, Muzny, Donna, Gibbs, Richard A., Rosenfeld, Jill A., Postlethwait, John, Beaudet, Arthur L., Ranza, Emmanuelle, Cormier-Daire, Valérie, Orange, Jordan S., Allard, Patrick, Barseghyan, Hayk, Batzli, Gabriel F., Beggs, Alan H., Bellen, Hugo J., Bernstein, Jonathan A., Bick, David P., Briere, Lauren C., Brokamp, Elly, Brush, Matthew, Coakley, Terra R., Cope, Heidi, Davidson, Jean M., Dayal, Jyoti G., Dhar, Shweta U., Dipple, Katrina M., Dorrani, Naghmeh, Duncan, Laura, Emrick, Lisa T., Eng, Christine M., Enns, Gregory M., Fisher, Paul G., Friedman, Noah D., Gahl, William A., Glanton, Emily, Goldman, Alica M., Gourdine, Jean-Philippe F., Groden, Catherine A., Haendel, Melissa, Hamid, Rizwan, High, Frances, Huang, Yong, Karaviti, Lefkothea, Kohler, Jennefer N., Krasnewich, Donna M., Korrick, Susan, Krier, Joel B., Kyle, Jennifer E., Lau, C. Christopher, Lee, Hane, Loo, Sandra K., Loscalzo, Joseph, Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCormack, Colleen E., McCray, Alexa T., Metz, Thomas O., Murdock, David R., Newberry, J. Scott, Nicholas, Sarah K., Palmer, Christina G.S., Papp, Jeanette C., Phillips, John A., Posey, Jennifer E., Pusey, Barbara N., Sampson, Jacinda B., Shakachite, Lisa, Signer, Rebecca, Silverman, Edwin K., Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sweetser, David A., Tan, Queenie K.-G., Tran, Alyssa A., Vogel, Tiphanie P., Wahl, Colleen E., Wangler, Michael F., Waters, Katrina M., Westerfield, Monte, Wise, Anastasia L., Yang, John, Yang, Yaping, Yoon, Amanda J., Zastrow, Diane B., Zhao, Chunli, Offiah, Amaka C., Carey, John C., Bacino, Carlos A., Campeau, Philippe M., Lee, Brendan

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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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    A toolkit for genetics providers in follow‐up of patients with non‐diagnostic exome sequencing by Zastrow, Diane B., Bonner, Devon, Reuter, Chloe M., Fisk, Dianna G., Yang, Yaping, Eng, Christine M., Fisher, Paul G., Merker, Jason, Schelley, Susan, Zappala, Zach, Prybol, Cameron, Olahova, Monika, Allard, Patrick, Bacino, Carlos A., Beggs, Alan H., Behnam, Babak, Bick, David P., Birch, Camille L., Bostwick, Bret L., Brokamp, Elly, Brown, Donna M., Chen, Shan, Coakley, Terra R., Cogan, Joy D., Cope, Heidi, Craigen, William J., Dayal, Jyoti G., Dell'Angelica, Esteban C., Dipple, Katrina M., Dorrani, Naghmeh, Draper, David D., Dries, Annika M., Eckstein, David J., Emrick, Lisa T., Enns, Gregory M., Esteves, Cecilia, Estwick, Tyra, Ferreira, Carlos, Fieg, Elizabeth L., Fogel, Brent L., Godfrey, Rena A., Goldstein, David B., Hamid, Rizwan, Holm, Ingrid A., Howerton, Ellen M., Huang, Yong, Jones, Angela L., Karaviti, Lefkothea, Krasnewich, Donna M., Korrick, Susan, Koziura, Mary, Krier, Joel B., Kyle, Jennifer E., Lau, C. Christopher, Lazar, Jozef, LeBlanc, Kimberly, Lee, Hane, Lewis, Richard A., Lincoln, Sharyn A., Loo, Sandra K., Malicdan, May Christine V., Mamounas, Laura A., Markello, Thomas C., Martin, Martin G., Martínez‐Agosto, Julian A., May, Thomas, McConkie‐Rosell, Allyn, McCray, Alexa T., Merker, Jason D., Metz, Thomas O., Moretti, Paolo M., Mulvihill, John J., Muzny, Donna M., Nelson, Stan F., Newberry, J. Scott, Nicholas, Sarah K., Orengo, James P., Pallais, J. Carl, Papp, Jeanette C., Phillips, John A., Posey, Jennifer E., Postlethwait, John H., Rosenfeld, Jill A., Sampson, Jacinda B., Shakachite, Lisa, Sharma, Prashant, Stoler, Joan M., Sweetser, David A., Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Vilain, Eric, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Webb‐Robertson, Bobbie‐Jo M., Westerfield, Monte, Wolfe, Lynne A., Yu, Guoyun, Zheng, Allison

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    Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students by White, Shana, Fisk, Dianna G., Rego, Shannon, Kohler, Jennefer N., Reuter, Chloe M., Bonner, Devon, Wheeler, Matthew T., Ormond, Kelly E., Hanson‐Kahn, Andrea K., Adams, David R., Aday, Aaron, Bacino, Carlos A., Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F., Bellen, Hugo J., Bernstein, Jonathan A., Bostwick, Bret L., Briere, Lauren C., Brokamp, Elly, Burrage, Lindsay C., Butte, Manish J., Chen, Shan, Clark, Gary D., Coakley, Terra R., Cogan, Joy D., Cope, Heidi, Craigen, William J., D'Souza, Precilla, Dayal, Jyoti G., Dorrani, Naghmeh, Enns, Gregory M., Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fisher, Paul G., Fogel, Brent L., Gahl, William A., Gourdine, Jean‐Philippe F., Gropman, Andrea L., Haendel, Melissa, Johnston, Jean M., Krasnewich, Donna M., Lalani, Seema R., Lee, Brendan H., Levy, Shawn E., Lincoln, Sharyn A., Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Mamounas, Laura A., Marom, Ronit, Martin, Martin G., Martínez‐Agosto, Julian A., Marwaha, Shruti, McCormack, Colleen E., Might, Matthew, Morimoto, Marie, Mulvihill, John J., Murdock, David R., Murphy, Jennifer L., Scott Newberry, J., Nicholas, Sarah K., Novacic, Donna, Orange, Jordan S., Carl Pallais, J., Parker, Neil H., Potocki, Lorraine, Pusey, Barbara N., Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Sampson, Jacinda B., Samson, Susan L., Schoch, Kelly, Shashi, Vandana, Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Sullivan, Jennifer A., Tifft, Cynthia J., Urv, Tiina K., Vilain, Eric, Walley, Nicole M., Walsh, Chris A., Wangler, Michael F., Ward, Patricia A., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, John, Yang, Yaping, Yoon, Amanda J., Yu, Guoyun, Zhao, Chunli, Zheng, Allison

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    Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy by Bhatia, Aashim, Mobley, Bret C., Koziura, Mary E., Phillips, John, Moore, Steven A., Alvey, Justin, Ashley, Euan A., Balasubramanyam, Ashok, Barbouth, Deborah, Beggs, Alan H., Bejerano, Gill, Berry, Gerard T., Bican, Anna, Birch, Camille L., Bonnenmann, Carsten, Botto, Lorenzo, Brokamp, Elly, Brown, Donna M., Chang, Ta Chen Peter, Chao, Hsiao-Tuan, Clark, Gary D., Cobban, Laurel A., Cogan, Joy D., Cope, Heidi, Craigen, William J., Davids, Mariska, Dell'Angelica, Esteban C., Dorrani, Naghmeh, Eckstein, David J., Emrick, Lisa T., Fogel, Brent L., Godfrey, Rena A., Hamid, Rizwan, High, Frances, Holm, Ingrid A., Jamal, Fariha, Johnston, Jean M., Karaviti, Lefkothea, Kelley, Emily G., Kiley, Dana, Koeller, David M., Kohler, Jennefer N., Korrick, Susan, Koziura, Mary, Krier, Joel B., Kyle, Jennifer E., Lam, Byron, Lanpher, Brendan C., Lazar, Jozef, Lee, Brendan H., Levy, Shawn E., Lewis, Richard A., Liu, Xue Zhong, Loo, Sandra K., MacRae, Calum A., Manolio, Teri A., Markello, Thomas C., Marth, Gabor, May, Thomas, McCauley, Jacob, McConkie-Rosell, Allyn, McCormack, Colleen E., Morava-Kozicz, Eva, Morimoto, Marie, Mulvihill, John J., Nelson, Stan F., Newberry, J. Scott, Newman, John H., Orengo, James P., Phillips, John A., Quinlan, Aaron, Renteria, Genecee, Robertson, Amy K., Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Shakachite, Lisa, Sharma, Prashant, Shashi, Vandana, Shin, Jimann, Signer, Rebecca, Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Telischi, Fred, Tifft, Cynthia J., Toro, Camilo, Urv, Tiina K., Velinder, Matt, Walley, Nicole M., Wangler, Michael F., Ward, Patricia A., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Wheeler, Matthew T., Yang, John, Yoon, Amanda J., Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli

    Published in Clinical imaging
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    IgG4‐related disease: Association with a rare gene variant expressed in cytotoxic T cells by Sheehan, Jonathan H., Bastarache, Lisa, Stone, William M., Perugino, Cory, Pilkinton, Mark, McDonnell, Wyatt J., Cogan, Joy, Mattoo, Hamid, Hamid, Rizwan, Allard, Patrick, Bacino, Carlos A., Beggs, Alan H., Behnam, Babak, Bican, Anna, Birch, Camille L., Bonner, Devon, Boone, Braden E., Brown, Donna M., Brush, Matthew, Chen, Shan, Cope, Heidi, Craigen, William J., D'Souza, Precilla, Davidson, Jean M., Dayal, Jyoti G., Dell'Angelica, Esteban C., Dipple, Katrina M., Donnell‐Fink, Laurel A., Dorrani, Naghmeh, Draper, David D., Dries, Annika M., Eckstein, David J., Emrick, Lisa T., Enns, Gregory M., Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fisher, Paul G., Fogel, Brent L., Friedman, Noah D., Gahl, William A., Goldman, Alica M., Gourdine, Jean‐Philippe F., Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Handley, Lori H., Herzog, Matthew R., Jamal, Fariha, Jiang, Yong‐hui, Johnston, Jean M., Karaviti, Lefkothea, Koeller, David M., Kohane, Isaac S., Korrick, Susan, Kyle, Jennifer E., Lalani, Seema R., LeBlanc, Kimberly, Lee, Brendan H., Lewis, Richard A., Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Manolio, Teri A., Marom, Ronit, Martin, Martin G., Marwaha, Shruti, McConkie‐Rosell, Allyn, McCormack, Colleen E., Merker, Jason D., Might, Matthew, Murdock, David R., Scott Newberry, J., Nicholas, Sarah K., Novacic, Donna, Orange, Jordan S., Papp, Jeanette C., Reuter, Chloe M., Rodan, Lance H., Rosenfeld, Jill A., Scott, Daryl A., Sharma, Prashant, Spillmann, Rebecca C., Stoler, Joan M., Sweetser, David A., Tran, Alyssa A., Valivullah, Zaheer M., Vogel, Tiphanie P., Waggott, Daryl M., Walker, Melissa, Waters, Katrina M., Wheeler, Matthew T., Wise, Anastasia L., Worthey, Elizabeth A., Yang, Yaping, Zastrow, Diane B., Zheng, Allison

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