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Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmia Hoang, Hieu D.; Spillmann, Rebecca C.; Wegner, Daniel J.; Tedesco, Maria G.; Brohus, Malene; Novelli, Antonio; Stregapede, Fabrizia; Rogaia, Daniela; Troiani, Stefania; Lesinski, Jacob; Yuan, Weimin; Fielder, Sara M.; Zhang, Bo; Morrison, Stephanie; Regmi, Suk; Foti, Miryam R. S.; Baldridge, Dustin; Silverman, Gary A.; Shea, Patrick; Dickson, Patricia; Wambach, Jennifer A.; Overgaard, Michael T.; Jensen, Helene H.; Olsen, Anders; Prontera, Paolo; Shashi, Vandana; Pak, Stephen C.; Schedl, Tim Share Save
ATG-3 limits Orsay virus infection in C. elegans and regulates collagen pathways Kalugotla, Gowri; Marmerstein, Vivien; Schriefer, Lawrence A.; Wang, Leran; Morrison, Stephanie A.; Perez, Luis Casorla; Silverman, Gary A.; Schedl, Tim; Pak, Stephen C.; Baldridge, Megan T. Share Save
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder Zerafati-Jahromi, Gazelle; Oxman, Elias; Hoang, Hieu D.; Charng, Wu-Lin; Kotla, Tanvitha; Yuan, Weimin; Ishibashi, Keito; Sebaoui, Sonia; Luedtke, Kathryn; Winrow, Bryce; Ganetzky, Rebecca D.; Ruiz, Anna; Manso-Basuz, Carmen; Spataro, Nino; Kannu, Peter; Athey, Taryn; Peroutka, Christina; Barnes, Caitlin; Sidlow, Richard; Anadiotis, George; Magnussen, Kari; Valenzuela, Irene; Moles-Fernandez, Alejandro; Berger, Seth; Grant, Christina L.; Vilain, Eric; Arnadottir, Gudny A.; Sulem, Patrick; Sulem, Telma S.; Stefansson, Kari; Massey, Shavonne; Ginn, Natalie; Poduri, Annapurna; D'Gama, Alissa M.; Valentine, Rozalia; Trowbridge, Sara K.; Murali, Chaya N.; Franciskovich, Rachel; Tran, Yen; Webb, Bryn D.; Keppler-Noreuil, Kim M.; Hall, April L.; Mcgivern, Bobbi; Monaghan, Kristin G.; Sacoto, Maria J. Guillen; Baldridge, Dustin; Silverman, Gary A.; Dahiya, Sonika; Turner, Tychele N.; Schedl, Tim; Corbin, Joshua G.; Pak, Stephen C.; Zohn, Irene E.; Gurnett, Christina A. Share Save
Variants in autophagy genes MTMR12 and FAM134A are putative modifiers of the hepatic phenotype in α1-antitrypsin deficiency Tafaleng, Edgar N.; Li, Jie; Wang, Yan; Hidvegi, Tunda; Soto-Gutierrez, Alex; Locke, Adam E.; Nicholas, Thomas J.; Wang, Yung-Chun; Pak, Stephen; Cho, Michael H.; Silverman, Edwin K.; Silverman, Gary A.; Jin, Sheng Chih; Fox, Ira J.; Perlmutter, David H. Share Save
Multiple Genes Core to ERAD, Macroautophagy and Lysosomal Degradation Pathways Participate in the Proteostasis Response in a1-Antitrypsin Deficiency Li, Jie; Moretti, Francesca; Hidvegi, Tunda; Sviben, Sanja; Fitzpatrick, James A. J.; Sundaramoorthi, Hemalatha; Pak, Stephen C.; Silverman, Gary A.; Knapp, Britta; Filipuzzi, Ireos; Alford, John; Reece-Hoyes, John; Nigsch, Florian; Murphy, Leon O.; Nyfeler, Beat; Perlmutter, David H. Share Save
Longitudinal modeling of human neuronal aging reveals the contribution of the RCAN1-TFEB pathway to Huntington's disease neurodegeneration Lee, Seong Won; Oh, Young Mi; Victor, Matheus B.; Yang, Yan; Chen, Shawei; Strunilin, Ilya; Dahiya, Sonika; Dolle, Roland E.; Pak, Stephen C.; Silverman, Gary A.; Perlmutter, David H.; Yoo, Andrew S. Share Save
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling Marom, Ronit; Zhang, Bo; Washington, Megan E.; Song, I-Wen; Burrage, Lindsay C.; Rossi, Vittoria C.; Berrier, Ava S.; Lindsey, Anika; Lesinski, Jacob; Nonet, Michael L.; Chen, Jian; Baldridge, Dustin; Silverman, Gary A.; Sutton, V. Reid; Rosenfeld, Jill A.; Tran, Alyssa A.; Hicks, M. John; Murdock, David R.; Dai, Hongzheng; Weis, Maryann; Jhangiani, Shalini N.; Muzny, Donna M.; Gibbs, Richard A.; Caswell, Richard; Pottinger, Carrie; Cilliers, Deirdre; Stals, Karen; Eyre, David; Krakow, Deborah; Schedl, Tim; Pak, Stephen C.; Lee, Brendan H. Share Save
Macrocephaly and developmental delay caused by missense variants in RAB5C Koop, Klaas; Yuan, Weimin; Tessadori, Federico; Rodriguez-Polanco, Wilmer R.; Grubbs, Jeremy; Zhang, Bo; Osmond, Matt; Graham, Gail; Sawyer, Sarah; Conboy, Erin; Vetrini, Francesco; Treat, Kayla; Ploski, Rafal; Pienkowski, Victor Murcia; Klosowska, Anna; Fieg, Elizabeth; Krier, Joel; Mallebranche, Coralie; Alban, Ziegler; Aldinger, Kimberly A.; Ritter, Deborah; Macnamara, Ellen; Sullivan, Bonnie; Herriges, John; Alaimo, Joseph T.; Helbig, Catherine; Ellis, Colin A.; van Eyk, Clare; Gecz, Jozef; Farrugia, Daniel; Osei-Owusu, Ikeoluwa; Ades, Lesley; van den Boogaard, Marie-Jose; Fuchs, Sabine; Bakker, Jeroen; Duran, Karen; Dawson, Zachary D.; Lindsey, Anika; Huang, Huiyan; Baldridge, Dustin; Silverman, Gary A.; Grant, Barth D.; Raizen, David; van Haaften, Gijs; Pak, Stephen C.; Rehmann, Holger; Schedl, Tim; van Hasselt, Peter Share Save
Regulation of PGC1α Downstream of the Insulin Signaling Pathway Plays a Role in the Hepatic Proteotoxicity of Mutant α1-Antitrypsin Deficiency Variant Z Rudnick, David A.; Huang, Jiansheng; Hidvegi, Tunda; Chu, Andrew S.; Hale, Pamela; Munanairi, Admire; Dietzen, Dennis J.; Cliften, Paul F.; Tycksen, Eric; Lutkewitte, Andrew J.; Finck, Brian N.; Pak, Stephen C.; Silverman, Gary A.; Perlmutter, David H. Share Save
The autophagy gene Epg5 promotes susceptibility to enteric viral infection Kalugotla, Gowri; Lee, Sanghyun; Schriefer, Lawrence; Perez, Luis Alberto Casorla; Huang, Huiyan; Lu, Qun; Orvedahl, Anthony; Silverman, Gary; Pak, Stephen; Wang, David; Baldridge, Megan T. Share Save
Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay Fielder, Sara M.; Rosenfeld, Jill A.; Burrage, Lindsay C.; Emrick, Lisa; Lalani, Seema; Attali, Ruben; Bembenek, Joshua N.; Hieu Hoang; Baldridge, Dustin; Silverman, Gary A.; Schedl, Tim; Pak, Stephen C. Share Save
A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C Huang, Huiyan; Pan, Jiehong; Spielberg, David R.; Hanchard, Neil A.; Scott, Daryl A.; Burrage, Lindsay C.; Dai, Hongzheng; Murdock, David; Rosenfeld, Jill A.; Mohammad, Ariz; Huang, Tao; Lindsey, Anika G.; Kim, Hyori; Chen, Jian; Ramu, Avinash; Morrison, Stephanie A.; Dawson, Zachary D.; Hu, Alex Z.; Tycksen, Eric; Silverman, Gary A.; Baldridge, Dustin; Wambach, Jennifer A.; Pak, Stephen C.; Brody, Steven L.; Schedl, Tim Share Save
Lysoptosis is an evolutionarily conserved cell death pathway moderated by intracellular serpins Luke, Cliff J.; Markovina, Stephanie; Good, Misty; Wight, Ira E.; Thomas, Brian J.; Linneman, John M.; Lanik, Wyatt E.; Koroleva, Olga; Coffman, Maggie R.; Miedel, Mark T.; Gong, Qingqing; Andress, Arlise; Guerrero, Marlene Campos; Wang, Songyan; Chen, LiYun; Beatty, Wandy L.; Hausmann, Kelsey N.; White, Frances, V; Fitzpatrick, James A. J.; Orvedahl, Anthony; Pak, Stephen C.; Silverman, Gary A. Share Save
SERPINB3 (SCCA1) inhibits cathepsin L and lysoptosis, protecting cervical cancer cells from chemoradiation Wang, Songyan; Luke, Cliff J.; Pak, Stephen C.; Shi, Victoria; Chen, Liyun; Moore, Jonathan; Andress, Arlise P.; Jayachandran, Kay; Zhang, Jin; Huang, Yi; Platik, Marina; Apicelli, Anthony A.; Schwarz, Julie K.; Grigsby, Perry W.; Silverman, Gary A.; Markovina, Stephanie Share Save
Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA Boulin, Thomas; Itani, Omar; El Mouridi, Sonia; Leclercq-Blondel, Alice; Gendrel, Marie; Macnamara, Ellen; Soldatos, Ariane; Murphy, Jennifer L.; Gorman, Mark P.; Lindsey, Anika; Shimada, Shino; Turner, Darian; Silverman, Gary A.; Baldridge, Dustin; Malicdan, May C.; Schedl, Tim; Pak, Stephen C. Share Save
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Functional characterization of four ATP-binding cassette transporter A3 gene (ABCA3) variants Hu, June Y.; Yang, Ping; Wegner, Daniel J.; Heins, Hillary B.; Luke, Cliff J.; Li, Fuhai; White, Frances V.; Silverman, Gary A.; Cole, F. Sessions; Wambach, Jennifer A. Share Save
Radioresistance of Serpinb3a-/- Mice and Derived Hematopoietic and Marrow Stromal Cell Lines Thermozier, S.; Epperly, M.; Darcy, F.; Zhang, X.; Fisher, R.; Shields, D.; Wang, H.; Luke, C.; Silverman, G.; Greenberger, J. S. Share Save
Autophagy genes in myeloid cells counteract IFNγ-induced TNF-mediated cell death and fatal TNF-induced shock Orvedahl, Anthony; McAllaster, Michael R.; Sansone, Amy; Dunlap, Bria F.; Desai, Chandni; Wang, Ya-Ting; Balce, Dale R.; Luke, Cliff J.; Lee, Sanghyun; Orchard, Robert C.; Artyomov, Maxim N.; Handley, Scott A.; Doench, John G.; Silverman, Gary A.; Virgin, Herbert W. Share Save
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