Comorbidities of Rare Epilepsies: Results from the Rare Epilepsy Network
Ho, Nhan Thi, Kroner, Barbara, Grinspan, Zachary, Fureman, Brandy, Farrell, Kathleen, Zhang, Jingzhou, Buelow, Janice, Hesdorffer, Dale C., McDonald, Brianne, Weldon, Monica, Bradish, Juliann, Vogel-Farley, Vanessa, Nues, Paige, Dixon-Salazar, Tracy, Bliss, Geraldine, DeWoody, Yssa, Nakagawa, Jo Anne, Kroner, Barbara, Harris, Michael, Arm, Glen, Jackson, Heather, Miller, Ilene, Vozenilek, Gina, Wong, Nora, Davidow, Audrey, Wagner, Kira, Hecker, JayEtta, Egan, Lynn, Grabenstatter, Heidi, Meskis, Mary Anne, Bartenhagen, Mike, Sims, Scotty, Walters, Julie, Schoyer, Lisa, Nye, Kim
Published in The Journal of pediatrics (01.12.2018)
Published in The Journal of pediatrics (01.12.2018)
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Journal Article
Factors Associated with Caregiver Sleep Quality Related to Children with Rare Epilepsy Syndromes
Hesdorffer, Dale C., Kroner, Barbara L., Shen, Jing, Farrell, Kathleen, Roberds, Steve, Fureman, Brandy, McDonald, Brianne, Egan, Lynn, Jones, Monika, Weldon, Monica, Harris, Michael, Rice, Kim, Campbell, Vinez, Brandish, Juliann, Kercheval, Cindy, Villas, Nichole, Meskis, Mary Ann, Vogel-Farley, Vanessa, Miller, Ilene, Bartenhagen, Mike, Grabenstatter, Heidi, Utley, Karen, Nues, Paige, Cherry, Angela, Vozenilek, Gina, Sims, Scotty, Salazar, Tracy Dixon, SanInocencio, Christina, Forman, Stephanie, Wong, Nora, Bischoff, Kim, Walters, Julie, O’Boyle, Megan, Bliss, Geraldine, Davidow, Audrey, Schoyer, Lisa, DeWoody, Yssa, Wagner, Kira, Arcieri, Michael, Freed, Amber, Nye, Kim, Nakagawa, Jo Anne, Hecker, JayEtta
Published in The Journal of pediatrics. X (2020)
Published in The Journal of pediatrics. X (2020)
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Journal Article
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back
Rauen, Katherine A., Schoyer, Lisa, McCormick, Frank, Lin, Angela E., Allanson, Judith E., Stevenson, David A., Gripp, Karen W., Neri, Giovanni, Carey, John C., Legius, Eric, Tartaglia, Marco, Schubbert, Suzanne, Roberts, Amy E., Gelb, Bruce D., Shannon, Kevin, Gutmann, David H., McMahon, Martin, Guerra, Carmen, Fagin, James A., Yu, Benjamin, Aoki, Yoko, Neel, Benjamin G., Balmain, Allan, Drake, Richard R., Nolan, Garry P., Zenker, Martin, Bollag, Gideon, Sebolt-Leopold, Judith, Gibbs, Jackson B., Silva, Alcino J., Patton, E. Elizabeth, Viskochil, David H., Kieran, Mark W., Korf, Bruce R., Hagerman, Randi J., Packer, Roger J., Melese, Teri
Published in American journal of medical genetics. Part A (01.01.2010)
Published in American journal of medical genetics. Part A (01.01.2010)
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Conference Proceeding
Advancing RAS/RASopathy therapies: An NCI‐sponsored intramural and extramural collaboration for the study of RASopathies
Gross, Andrea M., Frone, Megan, Gripp, Karen W., Gelb, Bruce D., Schoyer, Lisa, Schill, Lisa, Stronach, Beth, Biesecker, Leslie G., Esposito, Dominic, Hernandez, Edjay Ralph, Legius, Eric, Loh, Mignon L., Martin, Staci, Morrison, Deborah K., Rauen, Katherine A., Wolters, Pamela L., Zand, Dina, McCormick, Frank, Savage, Sharon A., Stewart, Douglas R., Widemann, Brigitte C., Yohe, Marielle E.
Published in American journal of medical genetics. Part A (01.04.2020)
Published in American journal of medical genetics. Part A (01.04.2020)
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Journal Article
The seventh international RASopathies symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery
Kontaridis, Maria I., Roberts, Amy E., Schill, Lisa, Schoyer, Lisa, Stronach, Beth, Andelfinger, Gregor, Aoki, Yoko, Axelrad, Marni E., Bakker, Annette, Bennett, Anton M., Broniscer, Alberto, Castel, Pau, Chang, Caitlin A., Cyganek, Lukas, Das, Tirtha K., Hertog, Jeroen, Galperin, Emilia, Garg, Shruti, Gelb, Bruce D., Gordon, Kristiana, Green, Tamar, Gripp, Karen W., Itkin, Maxim, Kiuru, Maija, Korf, Bruce R., Livingstone, Jeff R., López‐Juárez, Alejandro, Magoulas, Pilar L., Mansour, Sahar, Milner, Theresa, Parker, Elisabeth, Pierpont, Elizabeth I., Plouffe, Kevin, Rauen, Katherine A., Shankar, Suma P., Smith, Shane B., Stevenson, David A., Tartaglia, Marco, Van, Richard, Wagner, Morgan E., Ware, Stephanie M., Zenker, Martin
Published in American journal of medical genetics. Part A (01.06.2022)
Published in American journal of medical genetics. Part A (01.06.2022)
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Journal Article
The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy
Pierpont, Elizabeth I., Bennett, Anton M., Schoyer, Lisa, Stronach, Beth, Anschutz, April, Borrie, Sarah C., Briggs, Benjamin, Burkitt‐Wright, Emma, Castel, Pau, Cirstea, Ion C., Draaisma, Fieke, Ellis, Michelle, Fear, Vanessa S., Frone, Megan N., Flex, Elisabetta, Gelb, Bruce D., Green, Tamar, Gripp, Karen W., Khoshkhoo, Sattar, Kieran, Mark W., Kleemann, Karolin, Klein‐Tasman, Bonita P., Kontaridis, Maria I., Kruszka, Paul, Leoni, Chiara, Liu, Clifford Z., Merchant, Nadia, Magoulas, Pilar L., Moertel, Christopher, Prada, Carlos E., Rauen, Katherine A., Roelofs, Renée, Rossignol, Rodrigue, Sevilla, Christine, Sevilla, Gigi, Sheedy, Ryan, Stieglitz, Elliot, Sun, Daochun, Tiemens, Dagmar, White, Forest, Wingbermühle, Ellen, Wolf, Cordula, Zenker, Martin, Andelfinger, Gregor
Published in American journal of medical genetics. Part A (01.04.2024)
Published in American journal of medical genetics. Part A (01.04.2024)
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Journal Article
The sixth international RASopathies symposium: Precision medicine—From promise to practice
Gripp, Karen W., Schill, Lisa, Schoyer, Lisa, Stronach, Beth, Bennett, Anton M., Blaser, Susan, Brown, Amanda, Burdine, Rebecca, Burkitt‐Wright, Emma, Castel, Pau, Darilek, Sandra, Dias, Alwyn, Dyer, Tuesdi, Ellis, Michelle, Erickson, Gregg, Gelb, Bruce D., Green, Tamar, Gross, Andrea, Ho, Alan, Holder, James Lloyd, Inoue, Shin‐Ichi, Jelin, Angie C., Kennedy, Annie, Klein, Richard, Kontaridis, Maria I., Magoulas, Pilar, McConnell, Darryl B., McCormick, Frank, Neel, Benjamin G., Prada, Carlos E., Rauen, Katherine A., Roberts, Amy, Rodriguez‐Viciana, Pablo, Rosen, Neal, Rumbaugh, Gavin, Sablina, Anna, Solman, Maja, Tartaglia, Marco, Thomas, Angelica, Timmer, William C., Venkatachalam, Kartik, Walsh, Karin S., Wolters, Pamela L., Yi, Jae‐Sung, Zenker, Martin, Ratner, Nancy
Published in American journal of medical genetics. Part A (01.03.2020)
Published in American journal of medical genetics. Part A (01.03.2020)
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Journal Article
Conference Proceeding
The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway
Stevenson, David A., Schill, Lisa, Schoyer, Lisa, Andresen, Brage S., Bakker, Annette, Bayrak-Toydemir, Pinar, Burkitt-Wright, Emma, Chatfield, Kathryn, Elefteriou, Florent, Elgersma, Ype, Fisher, Michael J., Franz, David, Gelb, Bruce D., Goriely, Anne, Gripp, Karen W., Hardan, Antonio Y., Keppler-Noreuil, Kim M., Kerr, Bronwyn, Korf, Bruce, Leoni, Chiara, McCormick, Frank, Plotkin, Scott R., Rauen, Katherine A., Reilly, Karlyne, Roberts, Amy, Sandler, Abby, Siegel, Dawn, Walsh, Karin, Widemann, Brigitte C.
Published in American Journal of Medical Genetics Part A (01.08.2016)
Published in American Journal of Medical Genetics Part A (01.08.2016)
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Conference Proceeding
Journal Article
Proceedings of the fifth international RASopathies symposium: When development and cancer intersect
Rauen, Katherine A., Schoyer, Lisa, Schill, Lisa, Stronach, Beth, Albeck, John, Andresen, Brage S., Cavé, Hélène, Ellis, Michelle, Fruchtman, Steven M., Gelb, Bruce D., Gibson, Christopher C., Gripp, Karen, Hefner, Erin, Huang, William Y. C., Itkin, Maxim, Kerr, Bronwyn, Linardic, Corinne M., McMahon, Martin, Oberlander, Beverly, Perlstein, Ethan, Ratner, Nancy, Rogers, Leslie, Schenck, Annette, Shankar, Suma, Shvartsman, Stanislav, Stevenson, David A., Stites, Edward C., Stork, Philip J. S., Sun, Cheng, Therrien, Marc, Ullian, Erik M., Widemann, Brigitte C., Yeh, Erika, Zampino, Giuseppe, Zenker, Martin, Timmer, William, McCormick, Frank
Published in American journal of medical genetics. Part A (01.12.2018)
Published in American journal of medical genetics. Part A (01.12.2018)
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Journal Article
Conference Proceeding
The Third International Meeting on Genetic Disorders in the RAS/MAPK Pathway: Toward a Therapeutic Approach
Korf, Bruce, Ahmadian, Reza, Allanson, Judith, Aoki, Yoko, Bakker, Annette, Wright, Emma Burkitt, Denger, Brian, Elgersma, Ype, Gelb, Bruce D., Gripp, Karen W., Kerr, Bronwyn, Kontaridis, Maria, Lazaro, Conxi, Linardic, Corinne, Lozano, Reymundo, MacRae, Calum A., Messiaen, Ludwine, Mulero-Navarro, Sonia, Neel, Benjamin, Plotkin, Scott, Rauen, Katherine A., Roberts, Amy, Silva, Alcino J., Sittampalam, Sitta G., Zhang, Chao, Schoyer, Lisa
Published in American journal of medical genetics. Part A (01.08.2015)
Published in American journal of medical genetics. Part A (01.08.2015)
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Journal Article
The third international meeting on genetic disorders in the RAS/MAPK pathway: Towards a therapeutic approach
Korf, Bruce, Ahmadian, Reza, Allanson, Judith, Aoki, Yoko, Bakker, Annette, Wright, Emma Burkitt, Denger, Brian, Elgersma, Ype, Gelb, Bruce D., Gripp, Karen W., Kerr, Bronwyn, Kontaridis, Maria, Lazaro, Conxi, Linardic, Corinne, Lozano, Reymundo, MacRae, Calum A., Messiaen, Ludwine, Mulero-Navarro, Sonia, Neel, Benjamin, Plotkin, Scott, Rauen, Katherine A., Roberts, Amy, Silva, Alcino J., Sittampalam, Sitta G., Zhang, Chao, Schoyer, Lisa
Published in American journal of medical genetics. Part A (01.08.2015)
Published in American journal of medical genetics. Part A (01.08.2015)
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Journal Article
Conference Proceeding
Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007
Rauen, Katherine A., Hefner, Erin, Carrillo, Kristin, Taylor, Jill, Messier, Laure, Aoki, Yoko, Gripp, Karen W., Matsubara, Yoichi, Proud, Virginia K., Hammond, Peter, Allanson, Judith E., Delrue, Marie-Ange, Axelrad, Marni E., Lin, Angela E., Doyle, Daniel A., Kerr, Bronwyn, Carey, John C., McCormick, Frank, Silva, Alcino J., Kieran, Mark W., Hinek, Aleksander, Nguyen, Tan T., Schoyer, Lisa
Published in American journal of medical genetics. Part A (01.05.2008)
Published in American journal of medical genetics. Part A (01.05.2008)
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Journal Article
Conference Proceeding
Myocardial storage of chondroitin sulfate-containing moieties in Costello syndrome patients with severe hypertrophic cardiomyopathy
Hinek, Aleksander, Teitell, Michael A., Schoyer, Lisa, Allen, William, Gripp, Karen W., Hamilton, Robert, Weksberg, Rosanna, Klüppel, Michael, Lin, Angela E.
Published in American journal of medical genetics. Part A (15.02.2005)
Published in American journal of medical genetics. Part A (15.02.2005)
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Journal Article
Myocardial storage of chondroitin sulfate-containing moieties in Costello syndrome patients with severe hypertrophic cardiomyopathy: Cardiomyopathy in Costello Syndrome
Hinek, Aleksander, Teitell, Michael A., Schoyer, Lisa, Allen, William, Gripp, Karen W., Hamilton, Robert, Weksberg, Rosanna, Klüppel, Michael, Lin, Angela E.
Published in American journal of medical genetics. Part A (15.02.2005)
Published in American journal of medical genetics. Part A (15.02.2005)
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Journal Article