Limitations of exome sequencing in detecting rare and undiagnosed diseases
Burdick, Kendall J., Cogan, Joy D., Rives, Lynette C., Robertson, Amy K., Koziura, Mary E., Brokamp, Elly, Duncan, Laura, Hannig, Vickie, Pfotenhauer, Jean, Vanzo, Rena, Paul, Michael S., Bican, Anna, Morgan, Thomas, Duis, Jessica, Newman, John H., Hamid, Rizwan, Phillips, John A.
Published in American journal of medical genetics. Part A (01.06.2020)
Published in American journal of medical genetics. Part A (01.06.2020)
Get full text
Journal Article
A description of novel variants and review of phenotypic spectrum in UBA5 -related early epileptic encephalopathy
Briere, Lauren C, Walker, Melissa A, High, Frances A, Cooper, Cynthia, Rogers, Cassandra A, Callahan, Christine J, Ishimura, Ryosuke, Ichimura, Yoshinobu, Caruso, Paul A, Sharma, Nutan, Brokamp, Elly, Koziura, Mary E, Mohammad, Shekeeb S, Dale, Russell C, Riley, Lisa G, Phillips, John A, Komatsu, Masaaki, Sweetser, David A
Published in Cold Spring Harbor molecular case studies (01.06.2021)
Published in Cold Spring Harbor molecular case studies (01.06.2021)
Get full text
Journal Article
Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy
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 (01.11.2019)
Published in Clinical imaging (01.11.2019)
Get full text
Journal Article