Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Cherisse A. Marcou"'
Autor:
Eric Zimmerman Zuckerman, Joseph A. Thompson, Amber R. Schneider, Michael B. Campion, Jennifer J Johns, Theodore J. Stier, Lisa M. Peterson, Amanda M. Ward, Joseph H. Blommel, Rohan D. Gnanaolivu, Kimberly P. Lauer, Gopinath Sivasankaran, Jagadheshwar Balan, Surendra Dasari, Yuta Sakai, Cherisse A. Marcou, Gang Zheng, Kevin C. Halling, Wei Shen, David S. Viswanatha, Zhiyv Niu
Publikováno v:
SLAS Technology, Vol 27, Iss 3, Pp 214-218 (2022)
Capture-based library preparation for next generation sequencing (NGS) offers a balance between sequencing depth and bioinformatics cost of analysis. Liquid handling automation enhances the reliability of the library preparation process by reducing s
Externí odkaz:
https://doaj.org/article/9e0d66a0738b4e5fb671ba7d2e797b41
Autor:
Wei Shen, Heidi L. Sellers, Lauren A. Choate, Mariam I. Stein, Pratyush P. Tandale, Jiayu Tan, Rohit Setlem, Yuta Sakai, Numrah Fadra, Carlos Sosa, Shawn P. McClelland, Sarah S. Barnett, Kristen J. Rasmussen, Cassandra K. Runke, Stephanie A. Smoley, Lori S. Tillmans, Cherisse A. Marcou, Ross A. Rowsey, Erik C. Thorland, Nicole J. Boczek, Hutton M. Kearney
Publikováno v:
The Journal of Molecular Diagnostics.
Autor:
Hannah N. De Jong, Frederick E. Dewey, Pablo Cordero, Rachelle A. Victorio, Anna Kirillova, Yong Huang, Roshni Madhvani, Kinya Seo, Andreas A. Werdich, Feng Lan, Mark Orcholski, W. Robert Liu, Ayca Erbilgin, Matthew T. Wheeler, Rui Chen, Stephen Pan, Young M. Kim, Krishna Bommakanti, Cherisse A. Marcou, J. Martijn Bos, Francois Haddad, Michael Ackerman, Ramachandran S. Vasan, Calum MacRae, Joseph C. Wu, Vinicio de Jesus Perez, Michael Snyder, Victoria N. Parikh, Euan A. Ashley
Publikováno v:
Circulation. Genomic and precision medicine. 15(4)
Background: The study of hypertrophic cardiomyopathy (HCM) can yield insight into the mechanisms underlying the complex trait of cardiac hypertrophy. To date, most genetic variants associated with HCM have been found in sarcomeric genes. Here, we des
Autor:
Gavin R. Oliver, Jennifer L. Kemppainen, Ashley N. Sigafoos, Konstantinos N. Lazaridis, Megan M. Hager, Teresa M. Kruisselbrink, Jessica Jackson, Jessica M. Tarnowski, Laura Rust, Nicole J. Boczek, Cherisse A. Marcou, Nicole L. Bertsch, Marissa S. Ellingson, Pavel N. Pichurin, Brendan C. Lanpher, Sarah K. Macklin-Mantia, Dusica Babovic-Vuksanovic, Gianrico Farrugia, Eva Morava-Kozicz, Aditi Gupta, Lauren Gunderson, Paldeep S. Atwal, Jolene M. Summer Bolster, Michael T. Zimmermann, Marine I. Murphree, A. Keith Stewart, Carrie A. Lahner, Tanya L. Schwab, Zhiyv Niu, Tammy M. McAllister, Matthew J. Ferber, Lindsay A. Mulvihill, Ralitza H. Gavrilova, Kristen J. Rasmussen, Laura Schultz-Rogers, Sarah A. Kroc, Carri A. Prochnow, Scott A. Beck, Joel A. Morales-Rosado, Garrett Jenkinson, Eric W. Klee, Filippo Vairo, Karl J. Clark, Stacy L. Aoudia, Katherine Agre, Rebecca J. Lowy, David R. Deyle, Alejandro Ferrer, Erica L. Macke, Lisa A. Schimmenti, Sarah S. Barnett, Laura J. Fisher, Margot A. Cousin, Rory J. Olson, Radhika Dhamija, Linda Hasadsri, Patrick R. Blackburn, Raul Urrutia, Charu Kaiwar, Klaas J. Wierenga
Publikováno v:
Genetics in Medicine. 25:100359
Purpose Exome sequencing often identifies pathogenic genetic variants in patients with undiagnosed diseases. Nevertheless, frequent findings of variants of uncertain significance necessitate additional efforts to establish causality before reaching a
Autor:
Hutton M. Kearney, Beth A. Pitel, Nicole L. Hoppman, Erik C. Thorland, Clinton E. Hagen, Linda B. Baughn, Nicole J. Boczek, Cherisse A. Marcou, Ross A. Rowsey
Publikováno v:
Genetics in Medicine. 22:2120-2124
PURPOSE Copy-number variants (CNVs) of uncertain clinical significance are routinely reported in a clinical setting only when exceeding predetermined reporting thresholds, typically based on CNV size. Given that very few genes are associated with tri
Autor:
Eric W. Klee, Peter J. Tebben, Cherisse A. Marcou, Lisa A. Schimmenti, Linda Hasadsri, Jennifer L. Hand, Erica L. Macke, Karthik Muthusamy
Publikováno v:
American Journal of Medical Genetics Part A. 182:2442-2449
Prader-Willi syndrome (PWS) is a prototypic genetic condition related to imprinting. Causative mechanisms include paternal 15q11-q13 deletion, maternal chromosome 15 uniparental disomy (UPD15), Prader-Willi Syndrome/Angelman Syndrome (PWS/AS) critica
Autor:
Dan Ye, Todd J. Herron, Ryan P. O'Connell, Michael J. Ackerman, Silvia Castelletti, Maria Christina Kotta, Charles Antzelevitch, Lia Crotti, Guadalupe Guerrero-Serna, Andre Monteiro da Rocha, Margherita Torchio, Hassan Hussein Musa, Justus M.B. Anumonwo, Michael A. Makara, Peter J. Mohler, Brad Rosinski, Cherisse A. Marcou, Vladislav V. Nesterenko, Michelle L. Milstein, David J. Tester, Federica Dagradi, Peter J. Schwartz
Publikováno v:
Am J Physiol Heart Circ Physiol
Synapse-associated protein 97 (SAP97) is a scaffolding protein crucial for the functional expression of several cardiac ion channels and therefore proper cardiac excitability. Alterations in the functional expression of SAP97 can modify the ionic cur
Autor:
Cherisse A. Marcou, Linnea M. Baudhuin
Publikováno v:
Clinical Chemistry. 66:9-11
Autor:
Hayk Barseghyan, Heidi Cope, Nicole M. Walley, Vandana Shashi, Catherine Rehder, Surajit Bhattacharya, Cherisse A. Marcou, Nicole L. Hoppman, Kristen L. Deak, Anna Alkelai, Yulong Fu, Eric Vilain
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 7, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine, Vol 9, Iss 7, Pp n/a-n/a (2021)
Background Currently available structural variant (SV) detection methods do not span the complete spectrum of disease‐causing SVs. Optical genome mapping (OGM), an emerging technology with the potential to resolve diagnostic dilemmas, was performed
Autor:
Cherisse A, Marcou, Beth, Pitel, Clinton E, Hagen, Nicole J, Boczek, Ross A, Rowsey, Linda B, Baughn, Nicole L, Hoppman, Erik C, Thorland, Hutton M, Kearney
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 22(12)
Copy-number variants (CNVs) of uncertain clinical significance are routinely reported in a clinical setting only when exceeding predetermined reporting thresholds, typically based on CNV size. Given that very few genes are associated with triplosensi