Characterizing a rare neurogenetic disease, SLC13A5 citrate transporter disorder, utilizing clinical data in a cloud-based medical record collection system

por Spelbrink, Emily M., Brown, Tanya L., Brimble, Elise, Blanco, Kirsten A., Nye, Kimberly L., Porter, Brenda E.
Publicado 2023

4-Phenylbutyrate Inhibits Tunicamycin-Induced Acute Kidney Injury via CHOP/GADD153 Repression

por Carlisle, Rachel E., Brimble, Elise, Werner, Kaitlyn E., Cruz, Gaile L., Ask, Kjetil, Ingram, Alistair J., Dickhout, Jeffrey G.
Publicado 2014

Inhibition of histone deacetylation with vorinostat does not prevent tunicamycin-mediated acute kidney injury

por Carlisle, Rachel E., Farooqi, Salwa, Zhang, Ming Chan, Liu, Sarah, Lu, Chao, Phan, Andy, Brimble, Elise, Dickhout, Jeffrey G.
Publicado 2021

Expanding genotype–phenotype correlations in FOXG1 syndrome: results from a patient registry

por Brimble, Elise, Reyes, Kathryn G., Kuhathaas, Kopika, Devinsky, Orrin, Ruzhnikov, Maura R. Z., Ortiz-Gonzalez, Xilma R., Scheffer, Ingrid, Bahi-Buisson, Nadia, Olson, Heather
Publicado 2023

Human induced pluripotent stem cell derived neurons as a model for Williams-Beuren syndrome

por Khattak, Shahryar, Brimble, Elise, Zhang, Wenbo, Zaslavsky, Kirill, Strong, Emma, Ross, P. Joel, Hendry, Jason, Mital, Seema, Salter, Michael W., Osborne, Lucy R., Ellis, James
Publicado 2015

The patient-specific mouse model with Foxg1 frameshift mutation uncovers the pathophysiology of FOXG1 syndrome

por Park, Jaein, Moon, Ji Hwan, O’Shea, Holly, Shin, Dongjun, Hwang, Seon Ung, Li, Liwen, Lee, Hyojong, Brimble, Elise, Lee, Jae, Clark, Stewart, Lee, Soo-Kyung, Jeon, Shin
Publicado 2023

Delineating clinical and developmental outcomes in STXBP1-related disorders

por Xian, Julie, Thalwitzer, Kim Marie, McKee, Jillian, Sullivan, Katie Rose, Brimble, Elise, Fitch, Eryn, Toib, Jonathan, Kaufman, Michael C., deCampo, Danielle, Cunningham, Kristin, Pierce, Samuel R., Goss, James, Rigby, Charlene Son, Syrbe, Steffen, Boland, Michael, Prosser, Ben, Fitter, Nasha, Ruggiero, Sarah M., Helbig, Ingo
Publicado 2023

Delineating clinical and developmental outcomes in STXBP1-related disorders

por Xian, Julie, Thalwitzer, Kim Marie, McKee, Jillian, Sullivan, Katie Rose, Brimble, Elise, Fitch, Eryn, Toib, Jonathan, Kaufman, Michael C, deCampo, Danielle, Cunningham, Kristin, Pierce, Samuel R, Goss, James, Rigby, Charlene Son, Syrbe, Steffen, Boland, Michael, Prosser, Benjamin, Fitter, Nasha, Ruggiero, Sarah M, Helbig, Ingo
Publicado 2023

The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)

por Franken, Gijs A. C., Müller, Dominik, Mignot, Cyril, Keren, Boris, Lévy, Jonathan, Tabet, Anne‐Claude, Germanaud, David, Tejada, María‐Isabel, Kroes, Hester Y., Nievelstein, Rutger A. J., Brimble, Elise, Ruzhnikov, Maria, Claverie‐Martin, Felix, Szczepańska, Maria, Ćuk, Martin, Latta, Femke, Konrad, Martin, Martínez‐Cruz, Luis A., Bindels, René J. M., Hoenderop, Joost G. J., Schlingmann, Karl‐Peter, de Baaij, Jeroen H. F.
Publicado 2021

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

por Calpena, Eduardo, Hervieu, Alexia, Kaserer, Teresa, Swagemakers, Sigrid M.A., Goos, Jacqueline A.C., Popoola, Olajumoke, Ortiz-Ruiz, Maria Jesus, Barbaro-Dieber, Tina, Bownass, Lucy, Brilstra, Eva H., Brimble, Elise, Foulds, Nicola, Grebe, Theresa A., Harder, Aster V.E., Lees, Melissa M., Monaghan, Kristin G., Newbury-Ecob, Ruth A., Ong, Kai-Ren, Osio, Deborah, Reynoso Santos, Francis Jeshira, Ruzhnikov, Maura R.Z., Telegrafi, Aida, van Binsbergen, Ellen, van Dooren, Marieke F., van der Spek, Peter J., Blagg, Julian, Twigg, Stephen R.F., Mathijssen, Irene M.J., Clarke, Paul A., Wilkie, Andrew O.M.
Publicado 2019

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

por Rice, Gillian I., Park, Sehoon, Gavazzi, Francesco, Adang, Laura A., Ayuk, Loveline A., Eyck, Lien Van, Seabra, Luis, Barrea, Christophe, Battini, Roberta, Belot, Alexandre, Berg, Stefan, de Villemeur, Thierry Billette, Bley, Annette E., Blumkin, Lubov, Boespflug-Tanguy, Odile, Briggs, Tracy A., Brimble, Elise, Dale, Russell C., Darin, Niklas, Debray, François-Guillaume, De Giorgis, Valentina, Denecke, Jonas, Doummar, Diane, Hagelsrum, Gunilla Drake af, Eleftheriou, Despina, Estienne, Margherita, Fazzi, Elisa, Feillet, François, Galli, Jessica, Hartog, Nicholas, Harvengt, Julie, Heron, Bénédicte, Heron, Delphine, Kelly, Diedre A., Lev, Dorit, Levrat, Virginie, Livingston, John H., Marti, Itxaso, Mignot, Cyril, Mochel, Fanny, Nougues, Marie-Christine, Oppermann, Ilena, Pérez-Dueñas, Belén, Popp, Bernt, Rodero, Mathieu P., Rodriguez, Diana, Saletti, Veronica, Sharpe, Cia, Tonduti, Davide, Vadlamani, Gayatri, Haren, Keith Van, Vila, Miguel Tomas, Vogt, Julie, Wassmer, Evangeline, Wiedemann, Arnaud, Wilson, Callum J., Zerem, Ayelet, Zweier, Christiane, Zuberi, Sameer M., Orcesi, Simona, Vanderver, Adeline L., Hur, Sun, Crow, Yanick J.
Publicado 2020

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

por Bryant, Laura, Li, Dong, Cox, Samuel G., Marchione, Dylan, Joiner, Evan F., Wilson, Khadija, Janssen, Kevin, Lee, Pearl, March, Michael E., Nair, Divya, Sherr, Elliott, Fregeau, Brieana, Wierenga, Klaas J., Wadley, Alexandrea, Mancini, Grazia M. S., Powell-Hamilton, Nina, van de Kamp, Jiddeke, Grebe, Theresa, Dean, John, Ross, Alison, Crawford, Heather P., Powis, Zoe, Cho, Megan T., Willing, Marcia C., Manwaring, Linda, Schot, Rachel, Nava, Caroline, Afenjar, Alexandra, Lessel, Davor, Wagner, Matias, Klopstock, Thomas, Winkelmann, Juliane, Catarino, Claudia B., Retterer, Kyle, Schuette, Jane L., Innis, Jeffrey W., Pizzino, Amy, Lüttgen, Sabine, Denecke, Jonas, Strom, Tim M., Monaghan, Kristin G., Yuan, Zuo-Fei, Dubbs, Holly, Bend, Renee, Lee, Jennifer A., Lyons, Michael J., Hoefele, Julia, Günthner, Roman, Reutter, Heiko, Keren, Boris, Radtke, Kelly, Sherbini, Omar, Mrokse, Cameron, Helbig, Katherine L., Odent, Sylvie, Cogne, Benjamin, Mercier, Sandra, Bezieau, Stephane, Besnard, Thomas, Kury, Sebastien, Redon, Richard, Reinson, Karit, Wojcik, Monica H., Õunap, Katrin, Ilves, Pilvi, Innes, A. Micheil, Kernohan, Kristin D., Costain, Gregory, Meyn, M. Stephen, Chitayat, David, Zackai, Elaine, Lehman, Anna, Kitson, Hilary, Martin, Martin G., Martinez-Agosto, Julian A., Nelson, Stan F., Palmer, Christina G. S., Papp, Jeanette C., Parker, Neil H., Sinsheimer, Janet S., Vilain, Eric, Wan, Jijun, Yoon, Amanda J., Zheng, Allison, Brimble, Elise, Ferrero, Giovanni Battista, Radio, Francesca Clementina, Carli, Diana, Barresi, Sabina, Brusco, Alfredo, Tartaglia, Marco, Thomas, Jennifer Muncy, Umana, Luis, Weiss, Marjan M., Gotway, Garrett, Stuurman, K. E., Thompson, Michelle L., McWalter, Kirsty, Stumpel, Constance T. R. M., Stevens, Servi J. C., Stegmann, Alexander P. A., Tveten, Kristian, Vøllo, Arve, Prescott, Trine, Fagerberg, Christina, Laulund, Lone Walentin, Larsen, Martin J., Byler, Melissa, Lebel, Robert Roger, Hurst, Anna C., Dean, Joy, Schrier Vergano, Samantha A., Norman, Jennifer, Mercimek-Andrews, Saadet, Neira, Juanita, Van Allen, Margot I., Longo, Nicola, Sellars, Elizabeth, Louie, Raymond J., Cathey, Sara S., Brokamp, Elly, Heron, Delphine, Snyder, Molly, Vanderver, Adeline, Simon, Celeste, de la Cruz, Xavier, Padilla, Natália, Crump, J. Gage, Chung, Wendy, Garcia, Benjamin, Hakonarson, Hakon H., Bhoj, Elizabeth J.
Publicado 2020