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Implementation of First-Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units Keefe, Alexandra C.; Scott, Abbey A.; Kruidenier, Lukas; Conta, Jessie; Sternen, Darci L.; Candadai, Sarah V. Clowes; Stasi, Shannon M.; Parish-Morris, Julia; Sikes, Megan; Adam, Margaret P.; Beck, Anita E.; Hayek, Jennifer C.; Glass, Ian; Bennett, James T.; Mirzaa, Ghayda; Kruszka, Paul; Johnson, Britt; McWalter, Kirsty; Copenheaver, Deborah; Friedman, Bethany; Bamshad, Michael; Dipple, Katrina M.; Wenger, Tara L. Share Save
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SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns Wenger, Tara L.; Scott, Abbey; Kruidenier, Lukas; Sikes, Megan; Keefe, Alexandra; Buckingham, Kati J.; Marvin, Colby T.; Shively, Kathryn M.; Bacus, Tamara; Sommerland, Olivia M.; Anderson, Kailyn; Gildersleeve, Heidi; Davis, Chayna J.; Love-Nichols, Jamie; Macduffie, Katherine E.; Miller, Danny E.; Yu, Joon-Ho; Snook, Amy; Johnson, Britt; Veenstra, David L.; Parish-Morris, Julia; Mcwalter, Kirsty; Retterer, Kyle; Copenheaver, Deborah; Friedman, Bethany; Juusola, Jane; Ryan, Erin; Varga, Renee; Doherty, Daniel A.; Dipple, Katrina; Chong, Jessica X.; Kruszka, Paul; Bamshad, Michael J. Share Save
A missense variant effect map for the human tumor-suppressor protein CHK2 Gebbia, Marinella; Zimmerman, Daniel; Jiang, Rosanna; Nguyen, Maria; Weile, Jochen; Li, Roujia; Gavac, Michelle; Kishore, Nishka; Sun, Song; Boonen, Rick A.; Hamilton, Rayna; Dines, Jennifer N.; Wahl, Alexander; Reuter, Jason; Johnson, Britt; Fowler, Douglas M.; Couch, Fergus J.; van Attikum, Haico; Roth, Frederick P. Share Save
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification Padigepati, Samskruthi Reddy; Stafford, David A.; Tan, Christopher A.; Silvis, Melanie R.; Jamieson, Kirsty; Keyser, Andrew; Nunez, Paola Alejandra Correa; Nicoludis, John M.; Manders, Toby; Fresard, Laure; Kobayashi, Yuya; Araya, Carlos L.; Aradhya, Swaroop; Johnson, Britt; Nykamp, Keith; Reuter, Jason A. Share Save
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Continuous, probabilistic variant interpretation with Bayesian graphical models Korn, Wolfgang Michael; Kobayashi, Yuya; Facio, Flavia M.; Nampally, Arun; Nykamp, Keith; Nussbaum, Robert; Colavin, Alexandre; Johnson, Britt; Manders, Toby Share Save
The Impact of Machine Learning Models in Reducing Variants of Uncertain Significance in Individuals From Underrepresented Populations Who Are Undergoing Genetic Testing for Heritable Heart Conditions Morales, Ana; Johnson, Britt; Facio, Flavia; Ting, Yi-Lee; Vatta, Matteo; Fresard, Laure; McKnight, Dianalee; Kobayashi, Yuya; Reuter, Jason; Aradhya, Swaroop; Nykamp, Keith; Colavin, Alexandre Share Save
Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing 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 Share Save
Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals Truty, Rebecca; Rojahn, Susan; Ouyang, Karen; Kautzer, Curtis; Kennemer, Michael; Pineda-Alvarez, Daniel; Johnson, Britt; Stafford, Amanda; Basel-Salmon, Lina; Saitta, Sulagna; Slavotinek, Anne; Chandrasekharappa, Settara C.; Suarez, Carlos Jose; Burnett, Leslie; Nussbaum, Robert L.; Aradhya, Swaroop Share Save
THE IMPACT OF MACHINE LEARNING MODELS IN REDUCING VARIANTS OF UNCERTAIN SIGNIFICANCE (VUS) FOR INDIVIDUALS FROM UNDERREPRESENTED POPULATIONS WHO ARE UNDERGOING TESTING FOR INHERITED METABOLIC DISORDERS Johnson, Britt; Facio, Flavia; Morales, Ana; Fresard, Laure; McKnight, Dianalee; Kobayashi, Yuya; Reuter, Jason; Aradhya, Swaroop; Nykamp, Keith; Colavin, Alexandre Share Save
Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing 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. Share Save
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Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease Leal-Pardinas, Fernanda; Truty, Rebecca; McKnight, Dianalee A.; Johnson, Britt; Morales, Ana; Bristow, Sara L.; Pang, Tiffany Yar; Cohen-Pfeffer, Jessica; Izzo, Emanuela; Sankar, Raman; Koh, Sookyong; Wirrell, Elaine C.; Millichap, John J.; Aradhya, Swaroop Share Save
Detect Lysosomal Storage Diseases: A no-charge, sponsored, testing program that enables access to genetic testing, treatment, and clinical trials for individuals with suspected lysosomal disorders McLaughlin, Heather M.; Clarke, Michele; Crosby, Kathleen; Furgerson, Matthew; Leal-Pardinas, Fernanda; Mitchell, Asia; Pappadakis, Jennifer A.; Solyom, Alexander; Tress, Jenna; Johnson, Britt A. Share Save
Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH) Sarafrazi, Soodabeh; Daugherty, Sean C.; Miller, Nicole; Boada, Patrick; Carpenter, Thomas O.; Chunn, Lauren; Dill, Kariena; Econs, Michael J.; Eisenbeis, Scott; Imel, Erik A.; Johnson, Britt; Kiel, Mark J.; Krolczyk, Stan; Ramesan, Prameela; Truty, Rebecca; Sabbagh, Yves Share Save
Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program Rush, Eric T.; Johnson, Britt; Aradhya, Swaroop; Beltran, Daniel; Bristow, Sara L.; Eisenbeis, Scott; Guerra, Norma E.; Krolczyk, Stan; Miller, Nicole; Morales, Ana; Ramesan, Prameela; Sarafrazi, Soodabeh; Truty, Rebecca; Dahir, Kathryn Share Save
Clinical utility of a sponsored gene panel testing program for pediatric epilepsy and CLN2 disease diagnosis: Results from 4246 tests Pang, Tiffany; Leal-Pardinas, Fernanda; Truty, Rebecca; McKnight, Dianalee A.; Johnson, Britt; Morales, Ana; Bristow, Sara L.; Izzo, Emanuela; Cohen-Pfeffer, Jessica; Sankar, Raman; Koh, Sookyong; Wirrell, Elaine C.; Millichap, John J.; Aradhya, Swaroop Share Save
Clinical utility of a sponsored, no-cost skeletal dysplasia gene panel testing program: Results from 850 tests Seratti, Guillermo; Pansare, Vikram; Pang, Tiffany Yar; Izzo, Emanuela; Mackenzie, William; Raggio, Cathleen; White, Klane; Truty, Rebecca; Johnson, Britt; Aradhya, Swaroop Share Save
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