Janus Kinase Inhibition in the Aicardi–Goutières Syndrome von Vanderver, Adeline, Adang, Laura, Gavazzi, Francesco, McDonald, Katherine, Helman, Guy, Frank, David B, Jaffe, Nicole, Yum, Sabrina W, Collins, Abigail, Keller, Stephanie R, Lebon, Pierre, Meritet, Jean-François, Rhee, Jullie, Takanohashi, Asako, Armangue, Thais, Ulrick, Nicole, Sherbini, Omar, Koh, Jamie, Peer, Kyle, Besnier, Constance, Scher, Carly, Boyle, Katherine, Dubbs, Holly, Kramer-Golinkoff, Julia, Pizzino, Amy, Woidill, Sarah, Shults, Justine

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Janus Kinase Inhibition in the Aicardi-Goutières Syndrome von Vanderver, Adeline, Adang, Laura, Gavazzi, Francesco, McDonald, Katherine, Helman, Guy, Frank, David B, Jaffe, Nicole, Yum, Sabrina W, Collins, Abigail, Keller, Stephanie R, Lebon, Pierre, Meritet, Jean-François, Rhee, Jullie, Takanohashi, Asako, Armangue, Thais, Ulrick, Nicole, Sherbini, Omar, Koh, Jamie, Peer, Kyle, Besnier, Constance, Scher, Carly, Boyle, Katherine, Dubbs, Holly, Kramer-Golinkoff, Julia, Pizzino, Amy, Woidill, Sarah, Shults, Justine

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Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots von Armangue, Thais, Orsini, Joseph J., Takanohashi, Asako, Gavazzi, Francesco, Conant, Alex, Ulrick, Nicole, Morrissey, Mark A., Nahhas, Norah, Helman, Guy, Gordish-Dressman, Heather, Orcesi, Simona, Tonduti, Davide, Stutterd, Chloe, van Haren, Keith, Toro, Camilo, Iglesias, Alejandro D., van der Knaap, Marjo S., Goldbach Mansky, Raphaela, Moser, Anne B., Jones, Richard O., Vanderver, Adeline

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3279 First in Man von Adang, Laura, Gavazzi, Francesco, Giorgis, Valentina De, Simone, Micaela De, Fazzi, Elisa, Galli, Jessica, Koh, Jamie, Kramer-Golinkoff, Julia, Orcesi, Simona, Peer, Kyle, Ulrick, Nicole

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Developmental Outcomes of Aicardi Goutières Syndrome von Adang, Laura, Gavazzi, Francesco, De Simone, Micaela, Fazzi, Elisa, Galli, Jessica, Koh, Jamie, Kramer-Golinkoff, Julia, De Giorgis, Valentina, Orcesi, Simona, Peer, Kyle, Ulrick, Nicole, Woidill, Sarah, Shults, Justine, Vanderver, Adeline

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Autoimmune hepatitis in Aicardi-Goutières Syndrome (P4.6-045) von Cross, Zachary, Kriegermeier, Alyssa, McMann, Joseph, Rand, Elizabeth, Takanohashi, Asako, Ulrick, Nicole, Vanderver, Adeline, Adang, Laura

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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C von Pelletier, Félixe, Cayami, Ferdy K, Mirchi, Amytice, Saikali, Stephan, Tran, Luan T, Ulrick, Nicole, van Spaendonk, Rosalina M L, Naidu, Sakkubai, Pohl, Daniela, Gibson, William T, Demos, Michelle, Goizet, Cyril, Tejera-Martin, Ingrid, Potic, Ana, Fogel, Brent L, Brais, Bernard, Sylvain, Michel, Sébire, Guillaume, Lourenço, Charles Marques, Catsman-Berrevoets, Coriene, Pinto, Pedro S, Tirupathi, Sandya, Strømme, Petter, Gieruszczak-Bialek, Dorota, Krägeloh-Mann, Ingeborg, Mierzewska, Hanna, Philippi, Heike, Rankin, Julia, Atik, Tahir, Banwell, Brenda, Benko, William S, Blaschek, Astrid, Bley, Annette, Boltshauser, Eugen, Bratkovic, Drago, Brozova, Klara, Cimas, Icíar, Clough, Christopher, Dinopoulos, Argirios, Dolan, Gail, Faletra, Flavio, Fernandez, Raymond, Fletcher, Janice, Garcia Garcia, Maria Eugenia, Gasparini, Paolo, Gburek-Augustat, Janina, Gonzalez Moron, Dolores, Hamati, Aline, Harting, Inga, Hertzberg, Christoph, Hill, Alan, Kauffman, Marcelo, Kluger, Gerhard, Kotzaeridou, Urania, La Piana, Roberta, Liston, Eriskay, McClintock, William, McEntagart, Meriel, McKenzie, Fiona, Melançon, Serge, Misbahuddin, Anjum, Suri, Mohnish, Monton, Fernando I, Murphy, Raymond P J, Nickel, Miriam, Onay, Hüseyin, Orcesi, Simona, Özkınay, Ferda, Patzer, Steffi, Pedro, Helio, Pineda Marfa, Mercedes, Pizzino, Amy, Plecko, Barbara, Poll-The, Bwee Tien, Popovic, Vera, Rating, Dietz, Rioux, Marie-France, Ronan, Anne, Ostergaard, John R, Rossignol, Elsa, Sanchez-Carpintero, Rocio, Schossig, Anna, Sønderberg Roos, Laura K, Synofzik, Matthis, Sztriha, László, Tibussek, Daniel, Timmann, Dagmar, Tonduti, Davide, van de Warrenburg, Bart P, Vázquez-López, Maria, Venkateswaran, Sunita, Wasling, Pontus, Webster, Richard I, Wiegand, Gert, Yoon, Grace, Rotteveel, Joost, Schiffmann, Raphael, Vanderver, Adeline, Martos-Moreno, Gabriel Á, Bernard, Geneviève

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Aicardi goutières syndrome is associated with pulmonary hypertension von Adang, Laura A., Frank, David B., Gilani, Ahmed, Takanohashi, Asako, Ulrick, Nicole, Collins, Abigail, Cross, Zachary, Galambos, Csaba, Helman, Guy, Kanaan, Usama, Keller, Stephanie, Simon, Dawn, Sherbini, Omar, Hanna, Brian D., Vanderver, Adeline L.

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Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease von Rice, GI, Kitabayashi, N, Barth, M, Briggs, TA, Burton, ACE, Carpanelli, ML, Cerisola, AM, Colson, C, Dale, RC, Danti, FR, Darin, N, De Azua, B, De Giorgis, V, De Goede, CGL, Desguerre, I, De Laet, C, Eslahi, A, Fahey, MC, Fallon, P, Fay, A, Fazzi, E, Gorman, MP, Gowrinathan, NR, Hully, M, Kurian, MA, Leboucq, N, Lin, JPSM, Lines, MA, Mar, SS, Maroofian, R, Marti-Sanchez, L, McCullagh, G, Mojarrad, M, Narayanan, V, Orcesi, S, Ortigoza-Escobar, JD, Perez-Duenas, B, Petit, F, Ramsey, KM, Rasmussen, M, Rivier, F, Rodriguez-Pombo, P, Roubertie, A, Stodberg, TI, Toosi, MB, Toutain, A, Uettwiller, F, Ulrick, N, Vanderver, A, Waldman, A, Livingston, JH, Crow, YJ

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Pilot study of the use of Janus Kinase Inhibitor, Baricitinib, in the treatment of heritable interferonopathy Aicardi Goutières Syndrome (P3.323) von Vanderver, Adeline, Nicole, Ulrick, Gavazzi, Francesco, Takanohashi, Asako, Armangue, Thais, Rhee, Jullie, Koh, Jamie, Woidill, Sarah, Shults, Justine, Foerster, Deborah, Goldbach-Mansky, Raphaela, Adang, Laura, Waldman, Amy

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Developmental outcomes of Aicardi Goutières Syndrome (P4.6-044) von Adang, Laura, Gavazzi, Francesco, De Giorgis, Valentina, De Simone, Micaela, Fazzi, Elisa, Galli, Jessica, Koh, Jamie, Kramer-Golkinkoff, Julia, Orcesi, Simona, Peer, Kyle, Ulrick, Nicole, Woidill, Sarah, Shults, Justine, Vanderver, Adeline

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The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease von Ng, Yi Shiau, Alston, Charlotte L, Diodato, Daria, Morris, Andrew A, Ulrick, Nicole, Kmoch, Stanislav, Houštěk, Josef, Martinelli, Diego, Haghighi, Alireza, Atiq, Mehnaz, Gamero, Montserrat Anton, Garcia-Martinez, Elena, Kratochvílová, Hana, Santra, Saikat, Brown, Ruth M, Brown, Garry K, Ragge, Nicola, Monavari, Ahmad, Pysden, Karen, Ravn, Kirstine, Casey, Jillian P, Khan, Arif, Chakrapani, Anupam, Vassallo, Grace, Simons, Cas, McKeever, Karl, O'Sullivan, Siobhan, Childs, Anne-Marie, Østergaard, Elsebet, Vanderver, Adeline, Goldstein, Amy, Vogt, Julie, Taylor, Robert W, McFarland, Robert

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X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1 von Miyake, Noriko, Wolf, Nicole I., Cayami, Ferdy K., Crawford, Joanna, Bley, Annette, Bulas, Dorothy, Conant, Alex, Bent, Stephen J., Gripp, Karen W., Hahn, Andreas, Humphray, Sean, Kimura-Ohba, Shihoko, Kingsbury, Zoya, Lajoie, Bryan R., Lal, Dennis, Micha, Dimitra, Pizzino, Amy, Sinke, Richard J., Sival, Deborah, Stolte-Dijkstra, Irene, Superti-Furga, Andrea, Ulrick, Nicole, Taft, Ryan J., Ogata, Tsutomu, Ozono, Keiichi, Matsumoto, Naomichi, Neubauer, Bernd A., Simons, Cas, Vanderver, Adeline

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LeukoSeq Whole Genome Sequencing Clinical Trial: An Interim Analysis (P3.322) von Helman, Guy, Sherbini, Omar, Cross, Zachary, Woidill, Sarah, Takanohashi, Asako, Dubbs, Holly, Flores, Joseph, Bennett, Maren, McEachern, Julia, Perry, Denise, Ulrick, Nicole, Schmidt, Johanna, Pizzino, Amy, Bernard, Genevieve, Taft, Ryan, Vanderver, Adeline

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RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss—Another Mendelian Mimicker of Congenital Cytomegalovirus Infection von Ulrick, Nicole, Goldstein, Amy, Simons, Cas, Taft, Ryan J., Helman, Guy, Pizzino, Amy, Bloom, Miriam, Vogt, Julie, Pysden, Karen, Diodato, Daria, Martinelli, Diego, Monavari, Ahmad, Buhas, Daniela, van Karnebeek, Clara D.M., Dorboz, Imen, Boespflug-Tanguy, Odile, Rodriguez, Diana, Tétreault, Martine, Majewski, Jacek, Bernard, Genevieve, Ng, Yi Shiau, McFarland, Robert, Vanderver, Adeline

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RMND1 related Leukoencephalopathy with temporal lobe cysts and hearing loss – another Mendelian mimicker of congenital CMV infection von Ulrick, Nicole, BA, Goldstein, Amy, MD, Simons, Cas, PhD, Taft, Ryan J., PhD, Helman, Guy, BS, Pizzino, Amy, MS CGC, Bloom, M., MD, Vogt, Julie, MBBS, MRCP, Pysden, Karen, MD, Diodato, Daria, MD, Martinelli, Diego, MD, Monavari, Ahmad, MD, Buhas, Daniela, van Karnebeek, Clara D.M., MD, PhD, Dorboz, Imen, PhD, Boespflug-Tanguy, Odile, MD, PhD, Rodriguez, Diana, MD, PhD, Tétreault, Martine, Majewski, Jacek, Bernard, Genevieve, MD, MSc, Ng, Yi Shiau, MRCP, McFarland, Robert, MD, Vanderver, Adeline, MD

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Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease von Rice, Gillian, Kitabayashi, Naoki, Barth, Magalie, Briggs, Tracy, Burton, Annabel C.E, Luisa Carpanelli, Maria, Cerisola, Alfredo M, Colson, Cindy, Dale, Russell C, Danti, Federica Rachele, Darin, Niklas, De Azua, Begoña, De Giorgis, Valentina, De Goede, Christian G E L, Desguerre, Isabelle, De Laet, Corinne, Eslahi, Atieh, Fahey, Michael C, Fallon, Penny, Fay, Alexander J, Fazzi, Elisa, Gorman, Mark P, Gowrinathan, Nirmala Rani, Hully, Marie, Kurian, Manju A, Leboucq, Nicolas, Lin, Jean-Pierre S-M, Lines, Matthew A, Mar, Soe S, Maroofian, Reza, Martí-Sanchez, Laura, McCullagh, Gary, Mojarrad, Majid, Narayanan, Vinodh, Orcesi, Simona, Ortigoza-Escobar, Juan Dario, Pérez-Dueñas, Belén, Petit, Florence, Ramsey, Keri M, Rasmussen, Magnhild, Rivier, François, Rodríguez-Pombo, Pilar, Roubertie, Agathe, Stödberg, Tommy I, Beiraghi Toosi, Mehran, Toutain, Annick, Uettwiller, Florence, Ulrick, Nicole, Vanderver, Adeline, Waldman, Amy, Livingston, John H, Crow, Yanick

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The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease von Ng, Yi Shiau, Alston, Charlotte L, Diodato, Daria, Morris, Andrew A, Ulrick, Nicole, Kmoch, Stanislav, Houštěk, Josef, Martinelli, Diego, Haghighi, Alireza, Atiq, Mehnaz, Gamero, Montserrat Anton, Garcia-Martinez, Elena, Kratochvílová, Hana, Santra, Saikat, Brown, Ruth M, Brown, Garry K, Ragge, Nicola, Monavari, Ahmad, Pysden, Karen, Ravn, Kirstine, Casey, Jillian P, Khan, Arif, Chakrapani, Anupam, Vassallo, Grace, Simons, Cas, McKeever, Karl, O'Sullivan, Siobhan, Childs, Anne-Marie, Østergaard, Elsebet, Vanderver, Adeline, Goldstein, Amy, Vogt, Julie, Taylor, Robert W, McFarland, Robert

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