Search Results - Silverman, Brianna R

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    Bi-allelic variants in INTS11 are associated with a complex neurological disorder by 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

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    A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder by 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

    Published in Genetics in medicine
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    EFEMP1 haploinsufficiency causes a Marfan‐like hereditary connective tissue disorder by Forghani, Irman, Adam, Margaret, Azamian, Mahshid S., Baker, Eva, Baldridge, Dustin, Bale, Jim, Beck, Anita, Berg‐Rood, Beverly, Berry, Gerard T., Bican, Anna, Boyd, Brenna, Briere, Lauren C., Burke, Elizabeth A., Burrage, Lindsay C., Byers, Peter, Carey, John, Chang, Ta Chen Peter, Cogan, Joy D., Colley, Heather A., D'Souza, Precilla, Dasari, Surendra, Dell'Angelica, Esteban C., Duncan, Laura, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Fernandez, Liliana, Fieg, Elizabeth L., Forghani, Irman, Gochuico, Bernadette, Grajewski, Alana, Hahn, Sihoun, Hamid, Rizwan, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Huang, Yong, Jamal, Fariha, Jayadev, Suman, Kohler, Jennefer N., Krakow, Deborah, Kravets, Elijah, Koziura, Mary, Lam, Byron, Lam, Christina, Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levitt, Roy, Liu, Pengfei, Maas, Richard L., Macnamara, Ellen F., Maduro, Valerie V., Majcherska, Marta M., Manolio, Teri A., Marth, Gabor, Martínez‐Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie‐Rosell, Allyn, McGee, Elisabeth, Might, Matthew, Mirzaa, Ghayda, Moretti, Paolo M., Mosbrook‐Davis, Deborah, Murdock, David R., Nieves‐Rodriguez, Shirley, Parker, Neil H., Phillips, John A., Power, Bradley, Pusey, Barbara N., Quinlan, Aaron, Raskind, Wendy, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Solem, Emily, Stoler, Joan M., Sun, Angela, Tabor, Holly K., Tan, Amelia L. M., Telischi, Fred, Tifft, Cynthia J., Toro, Camilo, Tucker, Brianna M., Vogel, Tiphanie P., Wambach, Jennifer, Wang, Lee‐kai, Wegner, Daniel, Wenger, Tara, Westerfield, Monte, Wolfe, Lynne A., Zein, Wadih, Zuchner, Stephan

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    A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network by Zastrow, Diane, Baugh, Evan, Wheeler, Matthew T., Bernstein, Jonathan A., Acosta, Maria T., Adam, Margaret, Amendola, Laura, Andrews, Ashley, Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Baldridge, Dustin, Bale, Jim, Barbouth, Deborah, Beck, Anita, Bennet, Jimmy, Bernstein, Jonathan A., Bivona, Stephanie, Blue, Elizabeth, Brokamp, Elly, Burke, Elizabeth A., Burrage, Lindsay C., Byers, Peter, Carey, John, Cassini, Thomas, Coakley, Terra R., Cobban, Laurel A., Cole, F. Sessions, Cooper, Cynthia M., Dasari, Surendra, Dayal, Jyoti G., Doherty, Daniel, Dorrani, Naghmeh, Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Fogel, Brent L., Forghani, Irman, Gochuico, Bernadette, Golden-Grant, Katie, Grajewski, Alana, Gutierrez, Irma, Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yong, Introne, Wendy, Jarvik, Jeffrey, Jobanputra, Vaidehi, Karaviti, Lefkothea, Kiley, Dana, Kobren, Shilpa N., Krasnewich, Donna M., Levitt, Roy, Maduro, Valerie V., Malicdan, May Christine V., Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Martínez-Agosto, Julian A., McGee, Elisabeth, Merritt, J. Lawrence, Moretti, Paolo M., Newman, John H., Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Papp, Jeanette C., Parker, Neil H., Quinlan, Aaron, Renteria, Genecee, Rives, Lynette, Rodan, Lance H., Scott, C. Ron, Scott, Daryl A., Sinsheimer, Janet S., Smith, Kevin S., Stoler, Joan M., Sullivan, Jennifer A., Sun, Angela, Sutton, Shirley, Tan, Queenie K.-G., Telischi, Fred, Toro, Camilo, Urv, Tiina K., Wahl, Colleen E., Walker, Melissa, Wallace, Stephanie, Wang, Lee-kai, Wangler, Michael F., Westerfield, Monte, Wheeler, Matthew T., Wolfe, Lynne A., Zuchner, Stephan

    Published in Genetics in medicine
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    H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome by Bivona, Stephanie, Peart, LéShon, Guo, Shengru, Adam, Margaret, Agrawal, Pankaj B., Alvey, Justin, Balasubramanyam, Ashok, Bayrak‐Toydemir, Pinar, Beck, Anita, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Butte, Manish J., Chanprasert, Sirisak, Clark, Gary D., Coggins, Matthew, Cope, Heidi, Craigen, William J., Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Ferreira, Carlos, Fisher, Paul G., Gahl, William A., Goldman, Alica M., Goldstein, David B., Grajewski, Alana, Groden, Catherine A., Hamid, Rizwan, Hanchard, Neil A., Hassey, Kelly, Hayes, Nichole, Horike‐Pyne, Martha, Huang, Alden, Huang, Yong, Huryn, Laryssa, Isasi, Rosario, Jarvik, Gail P., Kennedy, Jennifer, Kiley, Dana, Kohane, Isaac S., Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Korrick, Susan, Koziura, Mary, Krier, Joel B., Lalani, Seema R., Lam, Christina, LaMoure, Grace L., Lee, Brendan H., Lincoln, Sharyn A., Loo, Sandra K., Maduro, Valerie V., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Martin, Beth A., Marwaha, Shruti, Mefford, Heather, Morava, Eva, Mulvihill, John J., Nakano‐Okuno, Mariko, Nath, Avi, Nickerson, Deborah, Nieves‐Rodriguez, Shirley, Pallais, J. Carl, Raskind, Wendy, Renteria, Genecee, Ruzhnikov, Maura, Samson, Susan L., Shashi, Vandana, Silverman, Edwin K., Sisco, Kathy, Solnica‐Krezel, Lilianna, Solomon, Ben, Sun, Angela, Sweetser, David A., Tan, Queenie K.‐G., Thorson, Willa, Thurm, Audrey, Tran, Alyssa A., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Wallace, Stephanie, Walsh, Chris A., Wambach, Jennifer, Wan, Jijun, Ward, Patricia A., Wener, Mark, Wenger, Tara, Yang, John, Yousef, Muhammad

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    Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum by Macnamara, Ellen F., McGuire, Peter, Adam, Margaret, Alejandro, Mercedes E, Alvey, Justin, Ashley, Euan A, Balasubramanyam, Ashok, Bayrak‐Toydemir, Pinar, Beck, Anita, Beggs, Alan H, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Butte, Manish J, Chanprasert, Sirisak, Coakley, Terra R, Coggins, Matthew, Cope, Heidi, Craigen, William J, Crouse, Andrew B, Davids, Mariska, Dayal, Jyoti G, Dell'Angelica, Esteban C, Dorrani, Naghmeh, Draper, David D, Earl, Dawn, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Ferreira, Carlos, Findley, Laurie C, Goldman, Alica M, Groden, Catherine A, Gropman, Andrea L, Gutierrez, Irma, Hanchard, Neil A, Hassey, Kelly, Hayes, Nichole, Hisama, Fuki M, Holm, Ingrid A, Hom, Jason, Horike‐Pyne, Martha, Huang, Alden, Isasi, Rosario, Johnston, Jean M, Kennedy, Jennifer, Kiley, Dana, Kohane, Isaac S, Krier, Joel B, Lee, Hane, Liu, Xue Zhong, Maas, Richard L, Macnamara, Ellen F., MacRae, Calum A, Mak, Bryan, Manolio, Teri A, Marom, Ronit, Marth, Gabor, Martínez‐Agosto, Julian A, McConkie‐Rosell, Allyn, McCormack, Colleen E, McCray, Alexa T, McGee, Elisabeth, Might, Matthew, Mirzaa, Ghayda, Mulvihill, John J, Nelson, Stan F, Nickerson, Deborah, Nieves‐Rodriguez, Shirley, Phillips, John A., Pusey, Barbara N, Raskind, Wendy, Raja, Archana N, Robertson, Amy K, Rodan, Lance H, Ruzhnikov, Maura, Sampson, Jacinda B, Scott, C. Ron, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A, Shin, Jimann, Signer, Rebecca, Sinsheimer, Janet S, Solem, Emily, Sullivan, Jennifer A, Sun, Angela, Telischi, Fred, Toro, Camilo, Tran, Alyssa A, Wang, Lee‐kai, Wangler, Michael F, Ward, Patricia A, Perry, Katherine Wesseling, Westerfield, Monte, Whitlock, Jordan, Woods, Jeremy D, Yamamoto, Shinya, Yu, Guoyun

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    Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease by Adams, David R., Bademci, Guney, Baker, Eva, Baldridge, Dustin, Bale, Jim, Barbouth, Deborah, Beck, Anita, Berg‐Rood, Beverly, Berry, Gerard T., Brokamp, Elly, Burke, Elizabeth A., Burrage, Lindsay C., Byers, Peter, Carey, John, Chang, Ta Chen Peter, Coakley, Terra R., Colley, Heather A., Cooper, Cynthia M., Dasari, Surendra, Dayal, Jyoti G., Duncan, Laura, Eng, Christine M., Esteves, Cecilia, Fernandez, Liliana, Fieg, Elizabeth L., Forghani, Irman, Glass, Ian, Gochuico, Bernadette, Golden‐Grant, Katie, Goldrich, Madison P., Grajewski, Alana, Hahn, Sihoun, Hamid, Rizwan, Hing, Anne, Holm, Ingrid A., Huang, Yong, Jamal, Fariha, Jayadev, Suman, Kohane, Isaac S., Kohler, Jennefer N., Kravets, Elijah, Lam, Byron, Lam, Christina, Lee, Hane, Levitt, Roy, Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Maas, Richard L., Macnamara, Ellen F., Maduro, Valerie V., Manolio, Teri A., Marth, Gabor, Martínez‐Agosto, Julian A., McCauley, Jacob, McConkie‐Rosell, Allyn, McGee, Elisabeth, Might, Matthew, Moretti, Paolo M., Mosbrook‐Davis, Deborah, Nagy, Anna, Nelson, Stan F., Nicholas, Sarah K., Orengo, James P., Pace, Laura, Pallais, J. Carl, Parker, Neil H., Phillips, John A., Power, Bradley, Pusey, Barbara N., Quinlan, Aaron, Rao, Deepak A., Robertson, Amy K., Rosenwasser, Natalie, Rossignol, Francis, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Scott, C. Ron, Scott, Daryl A., Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Solem, Emily, Stoler, Joan M., Sullivan, Jennifer A., Tifft, Cynthia J., Toro, Camilo, Vanderver, Adeline, Vogel, Tiphanie P., Walker, Melissa, Wambach, Jennifer, Wang, Lee‐kai, Ward, Patricia A., Wegner, Daniel, Wenger, Tara, Westerfield, Monte, Wolfe, Lynne A., Woods, Jeremy D., Yang, John

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