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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 disorderTepe, 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 分享 收藏 分享 收藏 Impact of integrated translational research on clinical exome sequencingKlee, 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 分享 收藏 A homozygous missense variant in UBE2T is associated with a mild Fanconi anemia phenotypeSchultz-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 RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal AbnormalitiesCousin, Margot A.; Conboy, Erin; Wang, Jian-She; Lenz, Dominic; Schwab, Tanya L.; Williams, Monique; Abraham, Roshini S.; Barnett, Sarah; El-Youssef, Mounif; Graham, Rondell P.; Sanchez, Luz Helena Gutierrez; Hasadsri, Linda; Hoffmann, Georg F.; Hull, Nathan C.; Kopajtich, Robert; Kovacs-Nagy, Reka; Li, Jia-qi; Marx-Berger, Daniela; Mclin, Valerie; McNiven, Mark A.; Mounajjed, Taofic; Prokisch, Holger; Rymen, Daisy; Schulze, Ryan J.; Staufner, Christian; Yang, Ye; Clark, Karl J.; Lanpher, Brendan C.; Klee, Eric W. 分享 收藏 分享 收藏 分享 收藏 
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