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Key HPI axis receptors facilitate light adaptive behavior in larval zebrafish Lee, Han B.; Shams, Soaleha; Thi, Viet Ha Dang; Boyum, Grace E.; Modhurima, Rodsy; Hall, Emma M.; Green, Izzabella K.; Cervantes, Elizabeth M.; Miguez, Fernando E.; Clark, Karl J. 分享 收藏
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy Morales-Rosado, Joel A.; Schwab, Tanya L.; Macklin-Mantia, Sarah K.; Foley, A. Reghan; Vairo, Filippo Pinto e; Pehlivan, Davut; Donkervoort, Sandra; Rosenfeld, Jill A.; Boyum, Grace E.; Hu, Ying; Cong, Anh T. Q.; Lotze, Timothy E.; Mohila, Carrie A.; Saade, Dimah; Bharucha-Goebel, Diana; Chao, Katherine R.; Grunseich, Christopher; Bruels, Christine C.; Littel, Hannah R.; Estrella, Elicia A.; Pais, Lynn; Kang, Peter B.; Zimmermann, Michael T.; Lupski, James R.; Lee, Brendan; Schellenberg, Matthew J.; Clark, Karl J.; Wierenga, Klaas J.; Bonnemann, Carsten G.; Klee, Eric W. 分享 收藏
Bi-allelic variants in INTS11 are associated with a complex neurological disorder Tepe, Burak; Macke, Erica L.; Niceta, Marcello; Hubshman, Monika Weisz; Kanca, Oguz; Schultz-Rogers, Laura; Zarate, Yuri A.; Schaefer, G. Bradley; De Luque, Jorge Luis Granadillo; Wegner, Daniel J.; Cogne, Benjamin; Gilbert-Dussardier, Brigitte; Le Guillou, Xavier; Wagner, Eric J.; Pais, Lynn S.; Neil, Jennifer E.; Mochida, Ganeshwaran H.; Walsh, Christopher A.; Magal, Nurit; Drasinover, Valerie; Shohat, Mordechai; Schwab, Tanya; Schmitz, Chris; Clark, Karl; Fine, Anthony; Lanpher, Brendan; Gavrilova, Ralitza; Blanc, Pierre; Burglen, Lydie; Afenjar, Alexandra; Steel, Dora; Kurian, Manju A.; Prabhakar, Prab; Gosswein, Sophie; Di Donato, Nataliya; Bertini, Enrico S.; Wangler, Michael F.; Yamamoto, Shinya; Tartaglia, Marco; Klee, Eric W.; Bellen, Hugo J. 分享 收藏
Impact of integrated translational research on clinical exome sequencing (vol 23, pg 498, 2021) Klee, Eric W.; Cousin, Margot A.; Vairo, Filippo Pinto e; Morales-Rosado, Joel A.; Macke, Erica L.; Jenkinson, W. Garrett; Ferrer, Alejandro; Schultz-Rogers, Laura E.; Olson, Rory J.; Oliver, Gavin R.; Sigafoos, Ashley N.; Schwab, Tanya L.; Zimmermann, Michael T.; Urrutia, Raul A.; Kaiwar, Charu; Gupta, Aditi; Blackburn, Patrick R.; Boczek, Nicole J.; Prochnow, Carri A.; Lowy, Rebecca J.; Mulvihill, Lindsay A.; McAllister, Tammy M.; Aoudia, Stacy L.; Kruisselbrink, Teresa M.; Gunderson, Lauren B.; Kemppainen, Jennifer L.; Fisher, Laura J.; Tarnowski, Jessica M.; Hager, Megan M.; Kroc, Sarah A.; Bertsch, Nicole L.; Agre, Katherine E.; Jackson, Jessica L.; Macklin-Mantia, Sarah K.; Murphree, Marine I.; Rust, Laura M.; Bolster, Jolene M. Summer; Beck, Scott A.; Atwal, Paldeep S.; Ellingson, Marissa S.; Barnett, Sarah S.; Rasmussen, Kristen J.; Lahner, Carrie A.; Niu, Zhiyv; Hasadsri, Linda; Ferber, Matthew J.; Marcou, Cherisse A.; Clark, Karl J.; Pichurin, Pavel N.; Deyle, David R.; Morava-Kozicz, Eva; Gavrilova, Ralitza H.; Dhamija, Radhika; Wierenga, Klaas J.; Lanpher, Brendan C.; Babovic-Vuksanovic, Dusica; Farrugia, Gianrico; Schimmenti, Lisa A.; Stewart, A. Keith; Lazaridis, Konstantinos N. 分享 收藏
Genetic therapy in a mitochondrial disease model suggests a critical role for liver dysfunction in mortality Sabharwal, Ankit; Wishman, Mark D.; Cervera, Roberto Lopez; Serres, MaKayla R.; Anderson, Jennifer L.; Holmberg, Shannon R.; Kar, Bibekananda; Treichel, Anthony J.; Ichino, Noriko; Liu, Weibin; Yang, Jingchun; Ding, Yonghe; Deng, Yun; Lacey, Jean M.; Laxen, William J.; Loken, Perry R.; Oglesbee, Devin; Farber, Steven A.; Clark, Karl J.; Xu, Xiaolei; Ekker, Stephen C.; Chen, Wenbiao 分享 收藏
A phenotype-based forward genetic screen identifies Dnajb6 as a sick sinus syndrome gene Ding, Yonghe; Lang, Di; Yan, Jianhua; Bu, Haisong; Li, Hongsong; Jiao, Kunli; Yang, Jingchun; Ni, Haibo; Morotti, Stefano; Le, Tai; Clark, Karl J.; Port, Jenna; Ekker, Stephen C.; Cao, Hung; Zhang, Yuji; Wang, Jun; Grandi, Eleonora; Li, Zhiqiang; Shi, Yongyong; Li, Yigang; Glukhov, Alexey, V; Xu, Xiaolei 分享 收藏
Cre/lox regulated conditional rescue and inactivation with zebrafish UFlip alleles generated by CRISPR-Cas9 targeted integration Liu, Fang; Kambakam, Sekhar; Almeida, Maira P.; Ming, Zhitao; Welker, Jordan M.; Wierson, Wesley A.; Schultz-Rogers, Laura E.; Ekker, Stephen C.; Clark, Karl J.; Essner, Jeffrey J.; McGrail, Maura 分享 收藏
Chimeric RNA:DNA TracrRNA Improves Homology-Directed Repair In Vitro and In Vivo Simone, Brandon W.; Lee, Han B.; Daby, Camden L.; Ata, Hirotaka; Restrepo-Castillo, Santiago; Martinez-Galvez, Gabriel; Kar, Bibekananda; Gendron, William A. C.; Clark, Karl J.; Ekker, Stephen C. 分享 收藏
The FusX TALE Base Editor (FusXTBE) for Rapid Mitochondrial DNA Programming of Human Cells In Vitro and Zebrafish Disease Models In Vivo Sabharwal, Ankit; Kar, Bibekananda; Restrepo-Castillo, Santiago; Holmberg, Shannon R.; Mathew, Neal D.; Kendall, Benjamin Luke; Cotter, Ryan P.; WareJoncas, Zachary; Seiler, Christoph; Nakamaru-Ogiso, Eiko; Clark, Karl J.; Ekker, Stephen C. 分享 收藏
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Impact of integrated translational research on clinical exome sequencing Klee, Eric W.; Cousin, Margot A.; Vairo, Filippo Pinto e; Morales-Rosado, Joel A.; Macke, Erica L.; Jenkinson, W. Garrett; Ferrer, Alejandro; Schultz-Rogers, Laura E.; Olson, Rory J.; Oliver, Gavin R.; Sigafoos, Ashley N.; Schwab, Tanya L.; Zimmermann, Michael T.; Urrutia, Raul A.; Kaiwar, Charu; Gupta, Aditi; Blackburn, Patrick R.; Boczek, Nicole J.; Prochnow, Carri A.; Lowy, Rebecca J.; Mulvihill, Lindsay A.; McAllister, Tammy M.; Aoudia, Stacy L.; Kruisselbrink, Teresa M.; Gunderson, Lauren B.; Kemppainen, Jennifer L.; Fisher, Laura J.; Tarnowski, Jessica M.; Hager, Megan M.; Kroc, Sarah A.; Bertsch, Nicole L.; Agre, Katherine E.; Jackson, Jessica L.; Macklin-Mantia, Sarah K.; Murphree, Marine, I; Rust, Laura M.; Bolster, Jolene M. Summer; Beck, Scott A.; Atwal, Paldeep S.; Ellingson, Marissa S.; Barnett, Sarah S.; Rasmussen, Kristen J.; Lahner, Carrie A.; Niu, Zhiyv; Hasadsri, Linda; Ferber, Matthew J.; Marcou, Cherisse A.; Clark, Karl J.; Pichurin, Pavel N.; Deyle, David R.; Morava-Kozicz, Eva; Gavrilova, Ralitza H.; Dhamija, Radhika; Wierenga, Klaas J.; Lanpher, Brendan C.; Babovic-Vuksanovic, Dusica; Farrugia, Gianrico; Schimmenti, Lisa A.; Stewart, A. Keith; Lazaridis, Konstantinos N. 分享 收藏
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Biallelic variants in PROZ as a cause of hypercoagulability and livedo racemosa Pinto e Vairo, Filippo; Kroc, Sarah A.; Bertsch, Nicole L.; Sigafoos, Ashley N.; Lee, Han B.; Dsouza, Nikita R.; Clark, Karl J.; Pichurin, Pavel N.; Zimmermann, Michael T.; Klee, Eric W. 分享 收藏
Building the vertebrate codex using the gene breaking protein trap library Ichino, Noriko; Serres, MaKayla R.; Urban, Rhianna M.; Urban, Mark D.; Treichel, Anthony J.; Schaefbauer, Kyle J.; Greif, Lauren E.; Varshney, Gaurav K.; Skuster, Kimberly J.; McNulty, Melissa S.; Daby, Camden L.; Wang, Ying; Liao, Hsin-kai; El-Rass, Suzan; Ding, Yonghe; Liu, Weibin; Anderson, Jennifer L.; Wishman, Mark D.; Sabharwal, Ankit; Schimmenti, Lisa A.; Sivasubbu, Sridhar; Balciunas, Darius; Hammerschmidt, Matthias; Farber, Steven Arthur; Wen, Xiao-Yan; Xu, Xiaolei; McGrail, Maura; Essner, Jeffrey J.; Burgess, Shawn M.; Clark, Karl J.; Ekker, Stephen C. 分享 收藏
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy NR4A2的从头变体与神经发育障碍和癫痫有关 Singh, Sakshi; Gupta, Aditi; Zech, Michael; Sigafoos, Ashley N.; Clark, Karl J.; Dincer, Yasemin; Wagner, Matias; Humberson, Jennifer B.; Green, Sarah; van Gassen, Koen; Brandt, Tracy; Schnur, Rhonda E.; Millan, Francisca; Si, Yue; Mall, Volker; Winkelmann, Juliane; Gavrilova, Ralitza H.; Klee, Eric W.; Engleman, Kendra; Safina, Nicole P.; Slaugh, Rachel; Bryant, Emily M.; Tan, Wen-Hann; Granadillo, Jorge; Misra, Sunita N.; Schaefer, G. Bradley; Towner, Shelley; Brilstra, Eva H.; Koeleman, Bobby P. C. 分享 收藏
A homozygous missense variant in UBE2T is associated with a mild Fanconi anemia phenotype Schultz-Rogers, Laura; Lach, Francis P.; Rickman, Kimberly A.; Ferrer, Alejandro; Mangaonkar, Abhishek A.; Schwab, Tanya L.; Schmitz, Christopher T.; Clark, Karl J.; Dsouza, Nikita R.; Zimmermann, Michael T.; Litzow, Mark; Jacobi, Nicole; Klee, Eric W.; Smogorzewska, Agata; Patnaik, Mrinal M. 分享 收藏
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