Differing Epithelial and Immunologic Activation Patterns Following Food Reintroduction Reveal Different Transcriptional Profiles in Active Eosinophilic Esophagitis von Pyne, Ashley L., Uchida, Amiko M., Hazel, Mark W., Pletneva, Maria A., Allen-Brady, Kristina, Peterson, Kathryn A.

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Oesophageal secretions reveal local food‐specific antibody responses in eosinophilic oesophagitis von Pyne, Ashley L., Hazel, Mark W., Uchida, Amiko M., Qeadan, Fares, Jordan, Kristine C., Holman, Amy, Harward, Brinnlie, Gleich, Gerald J., Peterson, Kathryn A.

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Effect of benralizumab on histopathology and inflammatory signatures in a clinical cohort of eosinophilic esophagitis von Pyne, Ashley L, Uchida, Amiko M, Hazel, Mark W, Stubben, Chris J, Chang, Joy W, Bailey, Dominique D, Gonsalves, Nirmala, Allen-Brady, Kristina, Peterson, Kathryn A, Pletneva, Maria A

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EP1332: PROBIOTIC SUPPLEMENTATION REDUCES PRO-INFLAMMATORY SERUM CYTOKINES IN HEALTHY ADULTS: RANDOMIZED, PLACEBO CONTROLLED TRIAL von Pyne, Ashley L., Peterson, Kathryn A.

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Sa1316 RNA SEQUENCING OF ESOPHAGEAL TISSUE OF NEWLY REOCCURRING AND LONG-STANDING EOSINOPHILIC ESOPHAGITIS REVEALS EARLY PATHWAYS OF EOSINOPHILIC ESOPHAGITIS PATHOGENESIS von Pyne, Ashley L., Hazel, Mark W., Peterson, Kathryn A.

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EP1111: GASTRIC BIOPSIES IN EOSINOPHILIC ESOPHAGITIS REFLECT A TH2 CYTOKINE PROFILE AND ARE CORRELATED WITH REPORTED ABDOMINAL PAIN von Pyne, Ashley L., Yao, Ruoxin, Freeman, Ryan, Peterson, Kathryn A.

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Su1286 INFLAMMATORY MARKERS IN GASTRIC SECRETIONS DIFFERENTIATE PATIENTS WITH EOSINOPHILIC GASTRITIS von Pyne, Ashley L., Schuman, Sophia S., Nichols, Amy, Peterson, Kathryn A.

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RNA SEǪUENCING FROM BIOPSIES PERFORMED DURING FOOD ELIMINATION AND REINTRODUCTION IDENTIFIES SIGNATURES INVOLVED IN EARLY RECURRENCE OF EOE von Pyne, Ashley L., Uchida, Amiko M., Hazel, Mark W., Allen-Brady, Kristina, Pletneva, Maria A., Peterson, Kathryn A.

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Sa1294 RISK OF CANCER DIAGNOSIS IN PATIENTS WITH EOSINOPHILIC ESOPHAGITIS USING A NATIONWIDE SWEDISH POPULATION COHORT von Schuman, Sophia S., Uchida, Amiko M., Pyne, Ashley L., Peterson, Kathryn A., Carlson, Marie, Garber, John, Roelstraete, Bjorn, Ludvigsson, Jonas

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Sa1183: SALIVARY CYTOKINES REVEAL A TYPE 2 INFLAMMATORY PROILE IN EOSINOPHILIC ESOPHAGITIS von Ro, Gabrielle, Pyne, Ashley L., Hazel, Mark W., Uchida, Amiko M., Peterson, Kathryn A.

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Food‐specific antibodies in oesophageal secretions: association with trigger foods in eosinophilic oesophagitis von Peterson, Kathryn, Lin, Edwin, Saffari, Hedieh, Qeadan, Fares, Pyne, Ashley, Firszt, Rafael, Robson, Jacob, Gleich, Gerald

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Risk of Cancer Diagnosis in Patients With Eosinophilic Esophagitis Using a Nationwide Swedish Population Cohort von Uchida, Amiko M., Schuman, Sophia S., Pyne, Ashley, Peterson, Kathryn, Carlson, Marie, Garber, John J., Roelstraete, Bjorn, Ludvigsson, Jonas F.

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Eosinophilic esophagitis is associated with increased risk of later inflammatory bowel disease in a nationwide Swedish population cohort von Uchida, Amiko M, Garber, John J, Pyne, Ashley, Peterson, Kathryn, Roelstraete, Bjorn, Olén, Ola, Halfvarson, Jonas, Ludvigsson, Jonas F

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Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy von 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 von 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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Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant von 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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De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities von Benke, Paul J., Emrick, Lisa, Fisher, Kristen, Adam, Margaret, Alvarez, Raquel L., Alvey, Justin, Ashley, Euan A., Bacino, Carlos A., Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Beggs, Alan H., Bejerano, Gill, Bennett, Jimmy, Bernstein, Jonathan A., Blue, Elizabeth, Burke, Elizabeth A., Burrage, Lindsay C., Byers, Peter, Carey, John, Cassini, Thomas, Chang, Ta Chen Peter, Coakley, Terra R., Cobban, Laurel A., Cole, F. Sessions, Colley, Heather A., Corona, Rosario, Crouse, Andrew B., Dai, Hongzheng, Davis, Joie, Dell'Angelica, Esteban C., Dickson, Patricia, Douine, Emilie D., Eckstein, David J., Emrick, Lisa T., Hadley, Don, Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, Horike‐Pyne, Martha, Huang, Alden, Isasi, Rosario, Izumi, Kosuke, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean‐Marie, Orpa, Jobanputra, Vaidehi, Karaviti, Lefkothea, Korrick, Susan, Krasnewich, Donna M., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Liu, Pengfei, Longo, Nicola, Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., Maduro, Valerie V., Maghiro, Audrey Stephannie, Manolio, Teri A., Marwaha, Shruti, McConkie‐Rosell, Allyn, Mirzaa, Ghayda, Morava, Eva, Nicholas, Sarah K., Nickerson, Deborah, Pallais, J. Carl, Phillips, John A., Raskind, Wendy, Rosenfeld, Jill A., Rosenwasser, Natalie, Sampson, Jacinda B., Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Solnica‐Krezel, Lilianna, Solomon, Ben, Sullivan, Kathleen, Sweetser, David A., Tan, Amelia L. M., Tarakad, Arjun, Vanderver, Adeline, Velinder, Matt, Walley, Nicole M., Wambach, Jennifer, Ward, Patricia A., Hubshman, Monika Weisz, Yamamoto, Shinya, Zhang, Zhe, Zuchner, Stephan, Glaser, Kimberly, Murdock, David R., Rohena, Luis, Diderich, Karin E. M., Lee, Brendan

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Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance von Liaqat, Khurram, Schrauwen, Isabelle, Raza, Syed Irfan, Lee, Kwanghyuk, Hussain, Shabir, Chakchouk, Imen, Nasir, Abdul, Acharya, Anushree, Abbe, Izoduwa, Umair, Muhammad, Ansar, Muhammad, Ullah, Irfan, Shah, Khadim, Bamshad, Michael J, Nickerson, Deborah A, Ahmad, Wasim, Leal, Suzanne M

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Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome von Pujol‐Giménez, Jonai, Miller, Danny E., Allworth, Aimee, Chanprasert, Sirisak, Folta, Andrew B., Hing, Anne, Horike‐Pyne, Martha, Leppig, Kathleen A., Parhin, Azma, Rosenthal, Elisabeth A., Schwarze, Ulrike, Strohbehn, Samuel, Sybert, Virginia P., Timms, Andrew, Wener, Mark, Bamshad, Michael J., Bacus, Tamara J., Blue, Elizabeth E., Brower, Katherine, Sánchez, Diana Cornejo, Gomeztagle‐Burgess, Katherine, Hurless, Jameson R., Shively, Kathryn M., Weiss, Jeffrey M., Wheeler, Marsha M., Adam, Margaret, Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Barbouth, Deborah, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Bivona, Stephanie, Blue, Elizabeth, Bonner, Devon, Byers, Peter, Cassini, Thomas, Chang, Ta Chen Peter, Chanprasert, Sirisak, Clark, Gary D., Cole, F. Sessions, Corona, Rosario, Crouse, Andrew B., Cunningham, Michael, Dasari, Surendra, Dayal, Jyoti G., Emrick, Lisa T., Fisher, Paul G., Gahl, William A., Hadley, Don, Hahn, Sihoun, High, Frances, Hing, Anne, Hisama, Fuki M., Horike‐Pyne, Martha, Hutchison, Sarah, Izumi, Kosuke, Kohane, Isaac S., Kohler, Jennefer N., Lalani, Seema R., Lam, Byron, Lanpher, Brendan C., Lewis, Richard A., Liu, Xue Zhong, Maduro, Valerie V., Manolio, Teri A., McCauley, Jacob, McCray, Alexa T., Mefford, Heather, Moretti, Paolo, Nickerson, Deborah, Nieves‐Rodriguez, Shirley, Orengo, James P., Pak, Stephen, Papp, Jeanette C., Parker, Neil H., Phillips, John A., Rao, Deepak A., Raskind, Wendy, Renteria, Genecee, Rosenfeld, Jill A., Saporta, Mario, Schaechter, Judy, Scott, Daryl A., Sisco, Kathy, Spillmann, Rebecca C., Sullivan, Jennifer A., Tabor, Holly K., Tifft, Cynthia J., Ungar, Rachel A., Walker, Melissa, Wambach, Jennifer, Ward, Patricia A., Wegner, Daniel, Wener, Mark, Yamamoto, Shinya, Dipple, Katrina M., Stergachis, Andrew B.

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Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy von Donkervoort, Sandra, Mohassel, Payam, Brull, Astrid, Mozaffar, Tahseen, Dyment, David A., Pajusalu, Sander, Hurth, Kyle, McWalter, Kirsty, Warman‐Chardon, Jodi, Crunk, Amy, Foley, A. Reghan, Allworth, Aimee, Andrews, Ashley, Bacino, Carlos A., Bademci, Guney, Baldridge, Dustin, Bale, Jim, Barbouth, Deborah, Beggs, Alan H., Berry, Gerard T., Bivona, Stephanie, Blue, Elizabeth, Brown, Gabrielle, Butte, Manish J., Cassini, Thomas, Chao, Hsiao‐Tuan, Chinn, Ivan, Cogan, Joy D., Coggins, Matthew, Corona, Rosario, Crouse, Andrew B., Dai, Hongzheng, Davis, Joie, Douine, Emilie D., Emrick, Lisa T., Fu, Jiayu, Hamid, Rizwan, High, Frances, Hing, Anne, Hisama, Fuki M., Horike‐Pyne, Martha, Huang, Yan, Hutchison, Sarah, Kilich, Gonench, Kobren, Shilpa N., Krakow, Deborah, Krasnewich, Donna M., Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., Liu, Pengfei, Longo, Nicola, Maduro, Valerie V., Manolio, Teri A., Mao, Rong, Marom, Ronit, Martin, Beth A., Martin, Martin G., Marwaha, Shruti, McConkie‐Rosell, Allyn, McGee, Elisabeth, Miller, Danny, Mirzaa, Ghayda, Nakano‐Okuno, Mariko, Nelson, Stanley F., Nieves‐Rodriguez, Shirley, Pallais, J. Carl, Petcharet, Leoyklang, Phillips, John A., Quinlan, Aaron, Rosenfeld, Jill A., Sabaii, Marla, Scott, Daryl A., Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Sisco, Kathy, Solomon, Ben, Sullivan, Kathleen, Sutton, Shirley, Tan, Queenie K.‐G., Amelia, L. M. Tan, Taylor, Herman, Tekin, Mustafa, Toro, Camilo, Ungar, Rachel A., Vanderver, Adeline, Walker, Melissa, Wang, Lee‐kai, Wangler, Michael F., Wegner, Daniel, Wener, Mark, Westerfield, Monte, Whitlock, Jordan, Wolfe, Lynne A., Worley, Kim, Yamamoto, Shinya, Zhang, Zhe, Mammen, Andrew L., O'Donnell‐Luria, Anne

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