Not logged in Unmasking Compound Heterozygosity in GYG1 Myopathy: Diagnostic Insights From RNA-Seq and Long-Read Genomics Panwar, Deepak; Farris, Joseph D.; Schmidt, Danielle; Blake, Emily J.; Tan, Jia W.; Naddaf, Elie; Sonnen, Joshua; Vairo, Filippo Pinto e; Lambert, Laura J.; Wierenga, Klaas J.; Muthusamy, Karthik; Klee, Eric W. Share Save
Genomic profiling reveals molecular heterogeneity in patients with Richter transformation (RT) and chronic lymphocytic leukemia (CLL) Tian, Shulan; Wang, Hanyin; Parikh, Sameer A.; Liu, Yuanhang; Jin-Lee, Helen; Jessen, Erik; Klee, Eric W.; Wang, Yucai; Leng, Fan; Shi, Min; Zepeda-Mendoza, Cinthya; He, Rong; Kenderian, Saad J.; Baughn, Linda B.; Van Dyke, Daniel L.; Hampel, Paul J.; Kay, Neil E.; Braggio, Esteban; Slager, Susan L.; Yan, Huihuang; Ding, Wei Share Save
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DMD Duplications Identified by Carrier Screening Should NOT Automatically Be Classified as [Likely] Pathogenic: Data from Long-Read Sequencing of 15 Cases Hasadsri, Linda; Ding, Qiliang; Balan, Jagadheshwar; Vidal-Folch, Noemi; Pickart, Angela; Sun, Guangchao; Walsh, Jesse; Majumdar, Ramanath; Klee, Eric; Murphy, Stephen; Oglesbee, Devin; Rowsey, Ross Share Save
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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. Share Save
Prevalence, Penetrance, and Phenotypic Manifestation of Incidental Cardiomyopathy-Associated Genetic Variants in a Quaternary Medical Center-based Population Figueiral, Marta; Fazzini, Luca; Tan-Arroyo, Jennifer; Olson, Rory; Bublitz, Josh; Olson, Janet; Klee, Eric; Pereira, Naveen Share Save
Development and Validation of Machine Learning-based Ischemic Outcome Prediction Using Clinical and Genetic Data in Patients with Percutaneous Coronary Intervention Grant, Caroline; Kowlgi, Gurukripa; Lennon, Ryan; Cavallari, Larisa; Lee, Craig; Beitelshees, Amber; Angiolillo, Dominick; Franchi, Francesco; Duarte, Julio; Rossi, Joe; Stouffer, George; Klee, Eric; Gulati, Rajiv; Lerman, Amir; Rihal, Charanjit; Farkouh, Michael; Athreya, Arjun; Pereira, Naveen Share Save
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 Share Save
Prevalence, Penetrance, and Phenotypic Manifestation of Cardiomyopathy-Associated Genetic Variants in the General Population: Insights from a Mayo Clinic Biobank Study Figueiral, Marta; Paldino, Alessia; Wilke, Matheus Vernet Machado Bressan; Farris, Joseph D.; Verheijen, Jan; Giudicessi, John R.; Ackerman, Michael J.; Olson, Janet E.; Arroyo, Jennifer; Olson, Rory J.; Klee, Eric W.; Pereira, Naveen L. Share Save
OmicsFootPrint: a framework to integrate and interpret multi-omics data using circular images and deep neural networks Tang, Xiaojia; Prodduturi, Naresh; Thompson, Kevin J.; Weinshilboum, Richard; O'Sullivan, Ciara C.; Boughey, Judy C.; Tizhoosh, Hamid R.; Klee, Eric W.; Wang, Liewei; Goetz, Matthew P.; Suman, Vera; Kalari, Krishna R. Share Save
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder Blackburn, Patrick R.; Ebstein, Frederic; Hsieh, Tzung-Chien; Motta, Marialetizia; Radio, Francesca Clementina; Herkert, Johanna C.; Rinne, Tuula; Thiffault, Isabelle; Rapp, Michele; Alders, Mariel; Maas, Saskia; Gerard, Benedicte; Smol, Thomas; Vincent-Delorme, Catherine; Cogne, Benjamin; Isidor, Bertrand; Vincent, Marie; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Joset, Pascal; Ferrero, Giovanni Battista; Ciolfi, Andrea; Husson, Thomas; Guerrot, Anne-Marie; Bacino, Carlos; Macmurdo, Colleen; Thompson, Stephanie S.; Rosenfeld, Jill A.; Faivre, Laurence; Mau-Them, Frederic Tran; Deb, Wallid; Vignard, Virginie; Agrawal, Pankaj B.; Madden, Jill A.; Goldenberg, Alice; Lecoquierre, Francois; Zech, Michael; Prokisch, Holger; Necpal, Jan; Jech, Robert; Winkelmann, Juliane; Koprusakova, Monika Turcanova; Konstantopoulou, Vassiliki; Younce, John R.; Shinawi, Marwan; Mighton, Chloe; Fung, Charlotte; Morel, Chantal F.; Lerner-Ellis, Jordan; Ditroia, Stephanie; Barth, Magalie; Bonneau, Dominique; Krapels, Ingrid; Stegmann, Alexander P. A.; van Der Schoot, Vyne; Brunet, Theresa; Bussmann, Cornelia; Mignot, Cyril; Zampino, Giuseppe; Wortmann, Saskia B.; Mayr, Johannes A.; Feichtinger, Rene G.; Courtin, Thomas; Ravelli, Claudia; Keren, Boris; Ziegler, Alban; Hasadsri, Linda; Pichurin, Pavel N.; Klee, Eric W.; Grand, Katheryn; Sanchez-Lara, Pedro A.; Krueger, Elke; Bezieau, Stephane; Klinkhammer, Hannah; Krawitz, Peter Michael; Eichler, Evan E.; Tartaglia, Marco; Kuery, Sebastien; Wang, Tianyun Share Save
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity Benkirane, Mehdi; Bonhomme, Marion; Morsy, Heba; Safgren, Stephanie L.; Marelli, Cecilia; Chaussenot, Annabelle; Smedley, Damian; Cipriani, Valentina; de Sainte-Agathe, Jean-Madeleine; Ding, Can; Larrieu, Lise; Vestito, Letizia; Margot, Henri; Lesca, Gaetan; Ramond, Francis; Castrioto, Anna; Baux, David; Verheijen, Jan; Sansa, Emna; Giunti, Paola; Haetty, Aline; Bergougnoux, Anne; Pointaux, Morgane; Ardouin, Olivier; Van Goethem, Charles; Vincent, Marie-Claire; Hadjivassiliou, Marios; Cossee, Mireille; Rouaud, Tiphaine; Bartsch, Oliver; Freeman, William D.; Wierenga, Klaas J.; Klee, Eric W.; Vandrovcova, Jana; Houlden, Henry; Debant, Anne; Koenig, Michel Share Save
Clonal dynamics of Richter transformation in chronic lymphocytic leukemia Wang, Hanyin; Tian, Shulan; Secreto, Charla R.; Sinha, Sutapa; Shi, Min; Call, Timothy; Wang, Yucai; Parikh, Sameer A.; Kenderian, Saad S.; He, Rong; Leis, Jose F.; VanDyke, Daniel L.; Klee, Eric W.; Slager, Susan L.; Braggio, Esteban; Yan, Huihuang; Ding, Wei Share Save
The expanding clinical and genetic spectrum of DYNC1H1-related disorders Moeller, Birk; Becker, Lena-Luise; Saffari, Afshin; Afenjar, Alexandra; Coci, Emanuele G.; Williamson, Rachel; Ward-Melver, Catherine; Gibaud, Marc; Sedlackova, Lucie; Lassuthova, Petra; Liba, Zuzana; Vlckova, Marketa; William, Nancy; Klee, Eric W.; Gavrilova, Ralitza H.; Levy, Jonathan; Capri, Yline; Scavina, Mena; Koerner, Robert Walter; Valivullah, Zaheer; Weiss, Claudia; Moeller, Greta Marit; Frazier, Zoe; Roberts, Amy; Gener, Blanca; Scala, Marcello; Striano, Pasquale; Zara, Federico; Thiel, Moritz; Sinnema, Margje; Kamsteeg, Erik-Jan; Donkervoort, Sandra; Duboc, Veronique; Zaafrane-Khachnaoui, Khaoula; Elkhateeb, Nour; Selim, Laila; Margot, Henri; Marin, Victor; Beneteau, Claire; Isidor, Bertrand; Cogne, Benjamin; Keren, Boris; Kuesters, Benno; Beggs, Alan H.; Sveden, Abigail; Chopra, Maya; Genetti, Casie A.; Nicolai, Joost; Doetsch, Joerg; Koy, Anne; Boennemann, Carsten G.; von der Hagen, Maja; von Kleist-Retzow, Juergen-Christoph; Voermans, Nicol C.; Jungbluth, Heinz; Dafsari, Hormos Salimi Share Save
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