Search Results - "Choi, Samantha"

Detection of brain somatic variation in epilepsy‐associated developmental lesions by Bedrosian, Tracy A., Miller, Katherine E., Grischow, Olivia E., Schieffer, Kathleen M., LaHaye, Stephanie, Yoon, Hyojung, Miller, Anthony R., Navarro, Jason, Westfall, Jesse, Leraas, Kristen, Choi, Samantha, Williamson, Rachel, Fitch, James, Kelly, Benjamin J., White, Peter, Lee, Kristy, McGrath, Sean, Cottrell, Catherine E., Magrini, Vincent, Leonard, Jeffrey, Pindrik, Jonathan, Shaikhouni, Ammar, Boué, Daniel R., Thomas, Diana L., Pierson, Christopher R., Wilson, Richard K., Ostendorf, Adam P., Mardis, Elaine R., Koboldt, Daniel C.

“…Objective Epilepsy‐associated developmental lesions, including malformations of cortical development and low‐grade developmental tumors, represent a major…”
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Math Anxiety, but Not Induced Stress, Is Associated With Objective Numeracy by Choi, Samantha S, Taber, Jennifer M, Thompson, Clarissa A, Sidney, Pooja G

“…Many daily activities require a basic understanding of math. Numeracy, which refers to individual differences in the ability to understand numerical concepts…”
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Expanding the phenotypic and molecular spectrum of NFS1‐related disorders that cause functional deficiencies in mitochondrial and cytosolic iron–sulfur cluster containing enzymes by Yang, Jennifer H., Friederich, Marisa W., Ellsworth, Katarzyna A., Frederick, Aliya, Foreman, Emily, Malicki, Denise, Dimmock, David, Lenberg, Jerica, Prasad, Chitra, Yu, Andrea C., Anthony Rupar, C., Hegele, Robert A., Manickam, Kandamurugu, Koboldt, Daniel C., Crist, Erin, Choi, Samantha S., Farhan, Sali M.K., Harvey, Helen, Sattar, Shifteh, Karp, Natalya, Wong, Terence, Haas, Richard, Van Hove, Johan L. K., Wigby, Kristen

“…Iron‐sulfur cluster proteins are involved in critical functions for gene expression regulation and mitochondrial bioenergetics including the oxidative…”
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eP332: The importance of parental sequencing depth in the setting of rapid genome sequencing by Choi, Samantha, White, Peter, Chaudhari, Bimal

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Bacteria hijack a meningeal neuroimmune axis to facilitate brain invasion by Pinho-Ribeiro, Felipe A., Deng, Liwen, Neel, Dylan V., Erdogan, Ozge, Basu, Himanish, Yang, Daping, Choi, Samantha, Walker, Alec J., Carneiro-Nascimento, Simone, He, Kathleen, Wu, Glendon, Stevens, Beth, Doran, Kelly S., Levy, Dan, Chiu, Isaac M.

“…The meninges are densely innervated by nociceptive sensory neurons that mediate pain and headache 1 , 2 . Bacterial meningitis causes life-threatening…”
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Nociceptor neurons direct goblet cells via a CGRP-RAMP1 axis to drive mucus production and gut barrier protection by Yang, Daping, Jacobson, Amanda, Meerschaert, Kimberly A., Sifakis, Joseph Joy, Wu, Meng, Chen, Xi, Yang, Tiandi, Zhou, Youlian, Anekal, Praju Vikas, Rucker, Rachel A., Sharma, Deepika, Sontheimer-Phelps, Alexandra, Wu, Glendon S., Deng, Liwen, Anderson, Michael D., Choi, Samantha, Neel, Dylan, Lee, Nicole, Kasper, Dennis L., Jabri, Bana, Huh, Jun R., Johansson, Malin, Thiagarajah, Jay R., Riesenfeld, Samantha J., Chiu, Isaac M.

“…Neuroepithelial crosstalk is critical for gut physiology. However, the mechanisms by which sensory neurons communicate with epithelial cells to mediate gut…”
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Simple changes to the reporting environment produce a large reduction in the frequency of interruptions to the reporting radiologist: an observational study by Banziger, Carina, McNeil, Kirsty, Goh, Hui Lu, Choi, Samantha, Zealley, Ian A

“…Interruptions are a cause of discrepancy, errors, and potential safety incidents in radiology. The sources of radiological error are multifactorial and…”
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S. aureus drives itch and scratch-induced skin damage through a V8 protease-PAR1 axis by Deng, Liwen, Costa, Flavia, Blake, Kimbria J., Choi, Samantha, Chandrabalan, Arundhasa, Yousuf, Muhammad Saad, Shiers, Stephanie, Dubreuil, Daniel, Vega-Mendoza, Daniela, Rolland, Corinne, Deraison, Celine, Voisin, Tiphaine, Bagood, Michelle D., Wesemann, Lucia, Frey, Abigail M, Palumbo, Joseph S., Wainger, Brian J., Gallo, Richard L., Leyva-Castillo, Juan-Manuel, Vergnolle, Nathalie, Price, Theodore J., Ramachandran, Rithwik, Horswill, Alexander R., Chiu, Isaac M.

“…Itch is an unpleasant sensation that evokes a desire to scratch. The skin barrier is constantly exposed to microbes and their products. However, the role of…”
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Basophils are important for development of allergic skin inflammation by Leyva-Castillo, Juan-Manuel, Vega-Mendoza, Daniela, Strakosha, Maria, Deng, Liwen, Choi, Samantha, Miyake, Kensuke, Karasuyama, Hajime, Chiu, Isaac M., Phipatanakul, Wanda, Geha, Raif S.

“…[Display omitted] Atopic dermatitis skin lesions exhibit increased infiltration by basophils. Basophils produce IL-4, which plays an important role in the…”
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Novel Presentation of Hemiplegic Migraine in a Patient With Cockayne Syndrome by Carroll, Jennifer, Pabst, Lisa, Koboldt, Daniel C., Franklin, Samuel J., Choi, Samantha, Wilson, Richard K., Lo, Warren

“…Cockayne syndrome is a rare DNA repair disorder marked by premature aging, poor growth, and intellectual disability. Neurological complications such as…”
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An observational study of interruptions in the inpatient CT reporting room by Choi, Samantha, Goh, Hui Lu, Zealley, Ian

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Botulinum Neurotoxin Accelerates the Resolution of Bacterial Skin Infections in Mice by Deng, Liwen, Choi, Samantha, Pinho-Ribeiro, Felipe A., Blake, Kimbria J., Subramaniam, Sudhakar, Baral, Pankaj, Held, Katherine S., Vazquez-Cintron, Edwin, Broide, Ron S., Brideau-Andersen, Amy D., Chiu, Isaac M.

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117. Clinical lessons learned from Translational Molecular Profiling of Cancer and Somatic Disease by Schieffer, Kathleen, Mathew, Mariam, Lee, Kristy, Choi, Samantha, Varga, Elizabeth, Garval, Emma, Grischow, Olivia, Jalkanen, Aimee, Jayaraman, Vijayakumar, Corsmeier, Don, Kelly, Ben, Chang, Peter, Fitch, James, Miller, Katherine, Koboldt, Daniel, White, Peter, Magrini, Vincent, Wilson, Richard, Mardis, Elaine, Cottrell, Catherine

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23. Paired exome analysis in Mosaic Disease yields expanded Genotype-Phenotype Associations by Cottrell, Catherine, Setty, Bhuvana, Lillis, Anna, Khansa, Ibrahim, Pearson, Gregory, Faith, Esteban Fernandez, Shenoy, Archana, Chen, Sonja, Magrini, Vincent, Mathew, Mariam, Schieffer, Kathleen, Choi, Samantha, Varga, Elizabeth, Mardis, Elaine

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KRIT1‐positive hyperkeratotic cutaneous capillary venous malformation by Matarneh, Bayan, Cottrell, Catherine E., Choi, Samantha, Pearson, Gregory, Fung, Bonita, Koo, Selene C., Lillis, Anna P., Ho, Mai‐Lan, Fernandez Faith, Esteban

“…Cerebral cavernous malformations (CCM) may present in sporadic or familial forms, with different cutaneous manifestations including deep blue nodules,…”
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eP360 - Robust diagnostic yield and candidate gene discovery through paired exome analysis in vascular malformation and overgrowth by Cottrell, Catherine, Setty, Bhuvana, Lillis, Anna, Khansa, Ibrahim, Pearson, Gregory, Fernandez-Faith, Esteban, Whitaker, Amanda, Kirschner, Richard, Halsey, Jordan, Jatana, Kris, Braswell, Leah, Smith, Sara, Lewis, Raimie, Truxal, Kristen, Savage, Sarah, Shenoy, Archana, Jalkanen, Aimee, Lee, Kristy, Koo, Selene, Choi, Samantha, Leraas, Kristen, Cearlock, Sydney, Koboldt, Daniel, LaHaye, Stephanie, Brennan, Patrick, Kelly, Benjamin, Wheeler, Gregory, Schieffer, Kathleen, White, Peter, Magrini, Vincent, Wilson, Richard, Mardis, Elaine

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Expanding the phenotypic spectrum of internal tandem duplications in somatic disease by Schieffer, Kathleen, Miller, Anthony, Hernandez-Gonzalez, Maria Elena, McGrath, Sean, Stonerock, Eileen, Choi, Samantha, Leraas, Kristen, Jalkanen, Aimee, Fitch, James, LaHaye, Stephanie, Kelly, Benjamin, Koboldt, Daniel, Koo, Selene, Savage, Sarah, Kaler, Stephen, Leonard, Jeffrey, Pearson, Gregory, Faith, Esteban Fernandez, Conces, Miriam, Shukri, Amal, Fung, Bonita, Pierson, Christopher, White, Peter, Magrini, Vincent, Wilson, Richard, Mardis, Elaine, Cottrell, Catherine, Lee, Kristy

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eP061 - Expanding the phenotypic spectrum of internal tandem duplications in somatic disease by Schieffer, Kathleen, Miller, Anthony, Hernandez-Gonzalez, Maria Elena, McGrath, Sean, Stonerock, Eileen, Choi, Samantha, Leraas, Kristen, Jalkanen, Aimee, Fitch, James, LaHaye, Stephanie, Kelly, Benjamin, Koboldt, Daniel, Koo, Selene, Savage, Sarah, Kaler, Stephen, Leonard, Jeffrey, Pearson, Gregory, Faith, Esteban Fernandez, Conces, Miriam, Shukri, Amal, Fung, Bonita, Pierson, Christopher, White, Peter, Magrini, Vincent, Wilson, Richard, Mardis, Elaine, Cottrell, Catherine, Lee, Kristy

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Robust diagnostic yield and candidate gene discovery through paired exome analysis in vascular malformation and overgrowth by Cottrell, Catherine, Setty, Bhuvana, Lillis, Anna, Khansa, Ibrahim, Pearson, Gregory, Fernandez-Faith, Esteban, Whitaker, Amanda, Kirschner, Richard, Halsey, Jordan, Jatana, Kris, Braswell, Leah, Smith, Sara, Lewis, Raimie, Truxal, Kristen, Savage, Sarah, Shenoy, Archana, Jalkanen, Aimee, Lee, Kristy, Koo, Selene, Choi, Samantha, Leraas, Kristen, Cearlock, Sydney, Koboldt, Daniel, LaHaye, Stephanie, Brennan, Patrick, Kelly, Benjamin, Wheeler, Gregory, Schieffer, Kathleen, White, Peter, Magrini, Vincent, Wilson, Richard, Mardis, Elaine

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Outcomes of in-house rapid genome sequencing at a Children’s Hospital by Chaudhari, Bimal, Cottrell, Catherine, Magrini, Vincent, White, Peter, Antoniou, Austin, Choi, Samantha, Kelly, Benjamin, Crist, Erin, Brennan, Patrick, Wheeler, Gregory, Rajkovic, Andrei, Franklin, Samuel, Lammi, Grant, Kuck, Harkness, Gordon, David, Bosley, Eric, Herman, Adam, Brenneman, Joshua, Voytovich, Kyle, Koboldt, Daniel, Lee, Kristy, Leung, Marco, Hunter, Jesse, Schultz, Matthew, Chen, Ingrid, Corsmeier, Don, Grubbs, Carly, Jalkanen, Aimee, Jayaraman, Vijayakumar, Lehman, April, Bartholomew, Dennis, Hickey, Scott, Manickam, Kandamurugu, McBride, Kim, Mori, Mari, Truxal, Kristen, Caceres, Valentina, Carroll, Jenni, Garner, Shannon, Gosselin, Rachel, Martin, Cortland, Pastore, Matthew, Savage, Sarah, Schmalz, Betsy, Siemon, Amy, Sites, Emily, Zapanta, Bianca, Bir, Natalie, Woodiga, Shireen, McKinney, Aimee, Zhong, Huachun, Mardis, Elaine, Wilson, Richard

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