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Mayo Clinic Tapestry Study: A Large-Scale Decentralized Whole Exome Sequencing Study for Clinical Practice, Research Discovery, and Genomic Education Bandel, Lorelei A.; Vierkant, Robert A.; Kruisselbrink, Teresa M.; Bublitz, Michelle L.; Wilson, Tammy A.; Armasu, Sebastian M.; Egan, Jan B.; Presutti, Richard J.; Samadder, Niloy Jewel J.; Sekulic, Aleksandar; Olson, Rory J.; Tan-Arroyo, Jennifer; Morales-Rosado, Joel A.; Klee, Eric W.; Ferber, Matthew J.; Kemppainen, Jennifer L.; Anderson, Jennifer L.; Bidwell, Jessa S.; Wick, Joseph J.; Ortega, Victor E.; Bobo, William, V; Pichurin, Pavel N.; Mcmillan, Jessica M.; Weaver, DeAnna M.; Riegert-Johnson, Douglas L.; Cera, Alanna M.; Boucher, Lauren M.; Kullo, Iftikhar J.; Mantia, Sarah K.; Jones, Matthew T.; Larson, Nicholas B.; Luehrs, Tony C.; Leitzke, Jon W.; Sicotte, Hugues; Tian, Shulan; Stavlund, Jennifer R.; Pacyna, Joel E.; Sharp, Richard R.; Asabere, Akwasi A.; Lu, James; Mcallister, Tammy M.; Walker, T'Nita S.; Stewart, A. Keith; Farrugia, Gianrico; Lazaridis, Konstantinos N. 分享 收藏
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/b-catenin signaling pathway Gong, Maolei; Li, Jiayi; Qin, Zailong; Wilke, Matheus Vernet Machado Bressan; Liu, Yijun; Li, Qian; Liu, Haoran; Liang, Chen; Morales-Rosado, Joel A.; Cohen, Ana S. A.; Hughes, Susan S.; Sullivan, Bonnie R.; Waddell, Valerie; van den Boogaard, Marie-Jose H.; van Jaarsveld, Richard H.; van Binsbergen, Ellen; van Gassen, Koen L.; Wang, Tianyun; Hiatt, Susan M.; Amaral, Michelle D.; Kelley, Whitley, V; Zhao, Jianbo; Feng, Weixing; Ren, Changhong; Yu, Yazhen; Boczek, Nicole J.; Ferber, Matthew J.; Lahner, Carrie; Elliott, Sherr; Ruan, Yiyan; Mignot, Cyril; Keren, Boris; Xie, Hua; Wang, Xiaoyan; Popp, Bernt; Zweier, Christiane; Piard, Juliette; Coubes, Christine; Mau-Them, Frederic Tran; Safraou, Hana; Innes, A. Micheil; Gauthier, Julie; Michaud, Jacques L.; Koboldt, Daniel C.; Sylvie, Odent; Willems, Marjolaine; Tan, Wen-Hann; Cogne, Benjamin; Rieubland, Claudine; Braun, Dominique; Mclean, Scott Douglas; Platzer, Konrad; Zacher, Pia; Oppermann, Henry; Evenepoel, Lucie; Blanc, Pierre; El Khattabi, Laila; Haque, Neshatul; Dsouza, Nikita R.; Zimmermann, Michael T.; Urrutia, Raul; Klee, Eric W.; Shen, Yiping; Du, Hongzhen; Rappaport, Leonard; Liu, Chang-Mei; Chen, Xiaoli 分享 收藏
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data Ferrer, Alejandro; Duffy, Patrick; Olson, Rory J.; Meiners, Michael A.; Schultz-Rogers, Laura; Macke, Erica L.; Safgren, Stephanie; Morales-Rosado, Joel A.; Cousin, Margot A.; Oliver, Gavin R.; Rider, David; Williams, Megan; Pichurin, Pavel N.; Deyle, David R.; Morava, Eva; Gavrilova, Ralitza H.; Dhamija, Radhika; Wierenga, Klass J.; Lanpher, Brendan C.; Babovic-Vuksanovic, Dusica; Kaiwar, Charu; Vitek, Carolyn R.; Mcallister, Tammy M.; Wick, Myra J.; Schimmenti, Lisa A.; Lazaridis, Konstantinos N.; Vairo, Filippo Pinto e; Klee, Eric W. 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
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
Mayo Clinic GeneGuide: A population-scale genetic interpretation software for reporting pathogenic and likely pathogenic variants impacting the CDC Tier1 genes Olson, Rory; Morales-Rosado, Joel; Safgren, Stephanie; Sicotte, Hugues; Zieman, Angela; Hansen, Angela; Karow, Mary Beth; Kruisselbrink, Teresa; Lazaridis, Konstantinos; Klee, Eric; Ferber, Matthew 分享 收藏
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
Population genetic screening efficiently identifies carriers of autosomal dominant diseases Grzymski, J. J.; Elhanan, G.; Rosado, J. A. Morales; Smith, E.; Schlauch, K. A.; Read, R.; Rowan, C.; Slotnick, N.; Dabe, S.; Metcalf, W. J.; Lipp, B.; Reed, H.; Sharma, L.; Levin, E.; Kao, J.; Rashkin, M.; Bowes, J.; Dunaway, K.; Slonim, A.; Washington, N.; Ferber, M.; Bolze, A.; Lu, J. T. 分享 收藏
Next-Generation Sequencing of CYP2C19 in Stent Thrombosis: Implications for Clopidogrel Pharmacogenomics Morales-Rosado, Joel A.; Goel, Kashish; Zhang, Lingxin; Akerblom, Axel; Baheti, Saurabh; Black, John L.; Eriksson, Niclas; Wallentin, Lars; James, Stefan; Storey, Robert F.; Goodman, Shaun G.; Jenkins, Gregory D.; Eckloff, Bruce W.; Bielinski, Suzette J.; Sicotte, Hugues; Johnson, Stephen; Roger, Veronique L.; Wang, Liewei; Weinshilboum, Richard; Klee, Eric W.; Rihal, Charanjit S.; Pereira, Naveen L. 分享 收藏
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