Search Results - "Ezell, Kimberly M."

A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases by Furuta, Yutaka, Tinker, Rory J, Hamid, Rizwan, Cogan, Joy D, Ezell, Kimberly M, Oglesbee, Devin, DeBerardinis, Ralph J, Phillips, John A

“…Abstract Background The number of known inherited metabolic diseases (IMDs) has been expanding, and the rate of diagnosis is improving with the development of…”
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Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal recessive condition by Ezell, Kimberly M., Furuta, Yutaka, Oglesbee, Devin, Pivnick, Eniko K., Rinker, David, Sheehan, Jonathan H., Tinker, Rory J., Hamid, Rizwan, Cogan, Joy D., Rives, Lynette, Neumann, Serena, Corner, Brian, Koziura, Mary, Phillips, John A.

“…Autosomal dominant congenital disorder of glycosylation (CDG) type Iw (OMIM# 619714) is caused by a heterozygous mutation in the STT3A gene. Most CDGs have an…”
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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

“…The Undiagnosed Disease Network (UDN) is comprised of clinical and research experts collaborating to diagnose rare disease. The UDN is funded by the National…”
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Novel variant in CADM3 causes Charcot–Marie–Tooth disease by Yalcouyé, Abdoulaye, Rebelo, Adriana P, Cissé, Lassana, Rives, Lynette, Bamba, Salia, Cogan, Joy, Esoh, Kevin, Diarra, Salimata, Ezell, Kimberly M, Taméga, Abdoulaye, Guinto, Cheick O, Dohrn, Maike F, Hamid, Rizwan, Fischbeck, Kenneth H, Zuchner, Stephan, Landouré, Guida

“…Abstract CADM3 has been recently reported causing a rare axonal Charcot–Marie–Tooth disease in three independent Caucasian families carrying a recurrent…”
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