Genetics in mainstream medicine: Finally within grasp to influence healthcare globally

por Aradhya, Swaroop, Nussbaum, Robert L.
Publicado 2018

Global Expansion of Jeffrey’s Insights: Jeffrey Modell Foundation’s Genetic Sequencing Program for Primary Immunodeficiency

por Quinn, Jessica, Modell, Vicki, Johnson, Britt, Poll, Sarah, Aradhya, Swaroop, Orange, Jordan S., Modell, Fred
Publicado 2022

High-Throughput Splicing Assays Identify Known and Novel WT1 Exon 9 Variants in Nephrotic Syndrome

por Smith, Cathy, Burugula, Bala Bharathi, Dunn, Ian, Aradhya, Swaroop, Kitzman, Jacob O., Yee, Jennifer Lai
Publicado 2023

Prevalence and properties of intragenic copy-number variation in Mendelian disease genes

por Truty, Rebecca, Paul, Joshua, Kennemer, Michael, Lincoln, Stephen E., Olivares, Eric, Nussbaum, Robert L., Aradhya, Swaroop
Publicado 2018

Jeffrey’s insights: Jeffrey Modell Foundation’s global genetic sequencing pilot program to identify specific primary immunodeficiency defects to optimize disease management and tre...

por Quinn, Jessica, Modell, Vicki, Holle, Jennifer, Truty, Rebecca, Aradhya, Swaroop, Johnson, Britt, Orange, Jordan, Modell, Fred
Publicado 2020

X-Linked Osteogenesis Imperfecta Possibly Caused by a Novel Variant in PLS3

por Brlek, Petar, Antičević, Darko, Molnar, Vilim, Matišić, Vid, Robinson, Kristina, Aradhya, Swaroop, Krpan, Dalibor, Primorac, Dragan
Publicado 2021

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

Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR

por Nykamp, Keith, Truty, Rebecca, Riethmaier, Darlene, Wilkinson, Julia, Bristow, Sara L., Aguilar, Sienna, Neitzel, Dana, Faulkner, Nicole, Aradhya, Swaroop
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

SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals

por Bowen, B. Monica, Truty, Rebecca, Aradhya, Swaroop, Bristow, Sara L., Johnson, Britt A., Morales, Ana, Tan, Christopher A., Westbrook, M. Jody, Winder, Thomas L., Chavez, Juan C.
Publicado 2021

Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders

por Winder, Thomas L., Tan, Christopher A., Klemm, Sarah, White, Hannah, Westbrook, Jody M., Wang, James Z., Entezam, Ali, Truty, Rebecca, Nussbaum, Robert L., McNally, Elizabeth M., Aradhya, Swaroop
Publicado 2020

Multigene Panel Testing in a Large Cohort of Adults With Epilepsy: Diagnostic Yield and Clinically Actionable Genetic Findings

por McKnight, Dianalee, Bristow, Sara L., Truty, Rebecca M., Morales, Ana, Stetler, Molly, Westbrook, M. Jody, Robinson, Kristina, Riethmaier, Darlene, Borlot, Felippe, Kellogg, Marissa, Hwang, Sean T., Berg, Anne, Aradhya, Swaroop
Publicado 2021

Molecular Diagnoses of X‐Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program

por 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
Publicado 2021

Sudden Cardiac Death—A New Insight Into Potentially Fatal Genetic Markers

por Primorac, Dragan, Odak, Ljubica, Perić, Vitorio, Ćatić, Jasmina, Šikić, Jozica, Radeljić, Vjekoslav, Manola, Šime, Nussbaum, Robert, Vatta, Matteo, Aradhya, Swaroop, Sofrenović, Tanja, Matišić, Vid, Molnar, Vilim, Skelin, Andrea, Mirat, Jure, Brachmann, Johannes
Publicado 2021

Technical standards for the interpretation and reporting of constitutional copy number variants: a joint consensus recommendation of the American College of Medical Genetics and Ge...

por Riggs, Erin Rooney, Andersen, Erica F., Cherry, Athena M., Kantarci, Sibel, Kearney, Hutton, Patel, Ankita, Raca, Gordana, Ritter, Deborah I., South, Sarah T., Thorland, Erik C., Pineda-Alvarez, Daniel, Aradhya, Swaroop, Martin, Christa Lese
Publicado 2019

Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease

por Leal‐Pardinas, Fernanda, Truty, Rebecca, McKnight, Dianalee A., Johnson, Britt, Morales, Ana, Bristow, Sara L., Yar Pang, Tiffany, Cohen‐Pfeffer, Jessica, Izzo, Emanuela, Sankar, Raman, Koh, Sookyong, Wirrell, Elaine C., Millichap, John J., Aradhya, Swaroop
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

Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy

por Truty, Rebecca, Patil, Nila, Sankar, Raman, Sullivan, Joseph, Millichap, John, Carvill, Gemma, Entezam, Ali, Esplin, Edward D., Fuller, Amy, Hogue, Michelle, Johnson, Britt, Khouzam, Amirah, Kobayashi, Yuya, Lewis, Rachel, Nykamp, Keith, Riethmaier, Darlene, Westbrook, Jody, Zeman, Michelle, Nussbaum, Robert L., Aradhya, Swaroop
Publicado 2019

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

One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation

por Lincoln, Stephen E., Hambuch, Tina, Zook, Justin M., Bristow, Sara L., Hatchell, Kathryn, Truty, Rebecca, Kennemer, Michael, Shirts, Brian H., Fellowes, Andrew, Chowdhury, Shimul, Klee, Eric W., Mahamdallie, Shazia, Cleveland, Megan H., Vallone, Peter M., Ding, Yan, Seal, Sheila, DeSilva, Wasanthi, Tomson, Farol L., Huang, Catherine, Garlick, Russell K., Rahman, Nazneen, Salit, Marc, Kingsmore, Stephen F., Ferber, Matthew J., Aradhya, Swaroop, Nussbaum, Robert L.
Publicado 2021