Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significance

por Johnson, Britt, Ouyang, Karen, Frank, Lauren, Truty, Rebecca, Rojahn, Susan, Morales, Ana, Aradhya, Swaroop, Nykamp, Keith
Publicado 2022

Hereditary Cancer Risk Using a Genetic Chatbot Before Routine Care Visits

por Nazareth, Shivani, Hayward, Laura, Simmons, Emilie, Snir, Moran, Hatchell, Kathryn E., Rojahn, Susan, Slotnick, Robert Nathan, Nussbaum, Robert L.
Publicado 2021

Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation

por Truty, Rebecca, Ouyang, Karen, Rojahn, Susan, Garcia, Sarah, Colavin, Alexandre, Hamlington, Barbara, Freivogel, Mary, Nussbaum, Robert L., Nykamp, Keith, Aradhya, Swaroop
Publicado 2021

Unmanaged Pharmacogenomic and Drug Interaction Risk Associations with Hospital Length of Stay among Medicare Advantage Members with COVID-19: A Retrospective Cohort Study

por Ashcraft, Kristine, Moretz, Chad, Schenning, Chantelle, Rojahn, Susan, Vines Tanudtanud, Kae, Magoncia, Gwyn Omar, Reyes, Justine, Marquez, Bernardo, Guo, Yinglong, Erdemir, Elif Tokar, Hall, Taryn O.
Publicado 2021

Comprehensive Genetic Testing for Pediatric Hypertrophic Cardiomyopathy Reveals Clinical Management Opportunities and Syndromic Conditions

por Gal, Dana B., Morales, Ana, Rojahn, Susan, Callis, Tom, Garcia, John, Priest, James R., Truty, Rebecca, Vatta, Matteo, Nussbaum, Robert L., Esplin, Edward D., Hollander, Seth A.
Publicado 2021

Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis

por Sturm, Amy C., Truty, Rebecca, Callis, Thomas E., Aguilar, Sienna, Esplin, Edward D., Garcia, Sarah, Haverfield, Eden V., Morales, Ana, Nussbaum, Robert L., Rojahn, Susan, Vatta, Matteo, Rader, Daniel J.
Publicado 2021

Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing

por Dellefave-Castillo, Lisa M., Cirino, Allison L., Callis, Thomas E., Esplin, Edward D., Garcia, John, Hatchell, Kathryn E., Johnson, Britt, Morales, Ana, Regalado, Ellen, Rojahn, Susan, Vatta, Matteo, Nussbaum, Robert L., McNally, Elizabeth M.
Publicado 2022

Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing

por Chen, Elaine, Facio, Flavia M., Aradhya, Kerry W., Rojahn, Susan, Hatchell, Kathryn E., Aguilar, Sienna, Ouyang, Karen, Saitta, Sulagna, Hanson-Kwan, Andrea K., Capurro, Nicole Nakousi, Takamine, Eriko, Jamuar, Saumya Shekhar, McKnight, Dianalee, Johnson, Britt, Aradhya, Swaroop
Publicado 2023

Scalable detection of technically challenging variants through modified next‐generation sequencing

por Rojahn, Susan, Hambuch, Tina, Adrian, Jessika, Gafni, Erik, Gileta, Alex, Hatchell, Hannah, Johnson, Britt, Kallman, Ben, Karfilis, Kate, Kautzer, Curtis, Kennemer, Michael, Kirk, Lloyd, Kvitek, Daniel, Lettes, Jessica, Macrae, Fenner, Mendez, Fernando, Paul, Joshua, Pellegrino, Maurizio, Preciado, Ronny, Risinger, Jan, Schultz, Matthew, Spurka, Lindsay, Swamy, Sajani, Truty, Rebecca, Usem, Nathan, Velenich, Andrea, Aradhya, Swaroop
Publicado 2022