Two successful pregnancies following fertility preservation in a patient with anaplastic astrocytoma: a case report

por Peyser, Alexandra, Bristow, Sara L., Hershlag, Avner
Publicado 2018

Is Fertility Preservation Feasible and Safe With Neoadjuvant Therapy for Breast Cancer?

por Hershlag, Avner, Mullin, Christine, Bristow, Sara L.
Publicado 2018

Is Fertility Preservation Feasible and Safe With Neoadjuvant Therapy for Breast Cancer?

por Hershlag, Avner, Mullin, Christine, Bristow, Sara L.
Publicado 2020

Cell Cycle-Regulated Transcription: Effectively Using a Genomics Toolbox

por Bristow, Sara L., Leman, Adam R., Haase, Steven B.
Publicado 2014

Checkpoints couple transcription network oscillator dynamics to cell-cycle progression

por Bristow, Sara L, Leman, Adam R, Simmons Kovacs, Laura A, Deckard, Anastasia, Harer, John, Haase, Steven B
Publicado 2014

The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives

por Schmidlen, Tara J., Bristow, Sara L., Hatchell, Kathryn E., Esplin, Edward D., Nussbaum, Robert L., Haverfield, Eden V.
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

Validation of Pharmacogenomic Interaction Probability (PIP) Scores in Predicting Drug–Gene, Drug–Drug–Gene, and Drug–Gene–Gene Interaction Risks in a Large Patient Population...

por Ashcraft, Kristine, Grande, Kendra, Bristow, Sara L., Moyer, Nicolas, Schmidlen, Tara, Moretz, Chad, Wick, Jennifer A., Blaxall, Burns C.
Publicado 2022

Universal Germline Genetic Testing for Hereditary Cancer Syndromes in Patients With Solid Tumor Cancer

por Esplin, Edward D., Nielsen, Sarah M., Bristow, Sara L., Garber, Judy E., Hampel, Heather, Rana, Huma Q., Samadder, N. Jewel, Shore, Neal D., Nussbaum, Robert L.
Publicado 2022

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

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

Rate of Pathogenic Germline Variants in Patients With Lung Cancer

por Sorscher, Steven, LoPiccolo, Jaclyn, Heald, Brandie, Chen, Elaine, Bristow, Sara L., Michalski, Scott T., Nielsen, Sarah M., Lacoste, Alix, Keyder, Emil, Lee, Hayan, Nussbaum, Robert L., Martins, Renato, Esplin, Edward D.
Publicado 2023

Evaluating genetic ancestry and self-reported ethnicity in the context of carrier screening

por Shraga, Roman, Yarnall, Sarah, Elango, Sonya, Manoharan, Arun, Rodriguez, Sally Ann, Bristow, Sara L., Kumar, Neha, Niknazar, Mohammad, Hoffman, David, Ghadir, Shahin, Vassena, Rita, Chen, Serena H., Hershlag, Avner, Grifo, Jamie, Puig, Oscar
Publicado 2017

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

Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study

por Ossa Gomez, Carlos Andrés, Achatz, Maria Isabel, Hurtado, Mabel, Sanabria-Salas, María Carolina, Sullcahuaman, Yasser, Chávarri-Guerra, Yanin, Dutil, Julie, Nielsen, Sarah M., Esplin, Edward D., Michalski, Scott T., Bristow, Sara L., Hatchell, Kathryn E., Nussbaum, Robert L., Pineda-Alvarez, Daniel E., Ashton-Prolla, Patricia
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

Clinical Impact of Pathogenic Variants in DNA Damage Repair Genes beyond BRCA1 and BRCA2 in Breast and Ovarian Cancer Patients

por Espinel, Whitney, Champine, Marjan, Hampel, Heather, Jeter, Joanne, Sweet, Kevin, Pilarski, Robert, Pearlman, Rachel, Shane, Kate, Brock, Pamela, Westman, Judith A., Kipnis, Lindsay, Sotelo, Jilliane, Chittenden, Anu, Culver, Samantha, Stopfer, Jill E., Schneider, Katherine A., Sacca, Rosalba, Koeller, Diane R., Gaonkar, Shraddha, Vaccari, Erica, Kane, Sarah, Michalski, Scott T., Yang, Shan, Nielsen, Sarah M., Bristow, Sara L., Lincoln, Stephen E., Nussbaum, Robert L., Esplin, Edward D.
Publicado 2022

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice

por McKnight, Dianalee, Morales, Ana, Hatchell, Kathryn E., Bristow, Sara L., Bonkowsky, Joshua L., Perry, Michael Scott, Berg, Anne T., Borlot, Felippe, Esplin, Edward D., Moretz, Chad, Angione, Katie, Ríos-Pohl, Loreto, Nussbaum, Robert L., Aradhya, Swaroop, Haldeman-Englert, Chad R., Levy, Rebecca J., Parachuri, Venu G., Lay-Son, Guillermo, de Montellano, David J. Dávila-Ortiz, Ramirez-Garcia, Miguel Angel, Benítez Alonso, Edmar O., Ziobro, Julie, Chirita-Emandi, Adela, Felix, Temis M., Kulasa-Luke, Dianne, Megarbane, Andre, Karkare, Shefali, Chagnon, Sarah L., Humberson, Jennifer B., Assaf, Melissa J., Silva, Sebastian, Zarroli, Katherine, Boyarchuk, Oksana, Nelson, Gary R., Palmquist, Rachel, Hammond, Katherine C., Hwang, Sean T., Boutlier, Susan B., Nolan, Melinda, Batley, Kaitlin Y., Chavda, Devraj, Reyes-Silva, Carlos Alberto, Miroshnikov, Oleksandr, Zuccarelli, Britton, Amlie-Wolf, Louise, Wheless, James W., Seinfeld, Syndi, Kanhangad, Manoj, Freeman, Jeremy L., Monroy-Santoyo, Susana, Rodriguez-Vazquez, Natalia, Ryan, Monique M., Machie, Michelle, Guerra, Patricio, Hassan, Muhammad Jawad, Candee, Meghan S., Bupp, Caleb P., Park, Kristen L., Muller, Eric, Lupo, Pamela, Pedersen, Robert C., Arain, Amir M., Murphy, Andrea, Schatz, Krista, Mu, Weiyi, Kalika, Paige M., Plaza, Lautaro, Kellogg, Marissa A., Lora, Evelyn G., Carson, Robert P., Svystilnyk, Victoria, Venegas, Viviana, Luke, Rebecca R., Jiang, Huiyuan, Stetsenko, Tetiana, Dueñas-Roque, Milagros M., Trasmonte, Joseph, Burke, Rebecca J., Hurst, Anna C.E., Smith, Douglas M., Massingham, Lauren J., Pisani, Laura, Costin, Carrie E., Ostrander, Betsy, Filloux, Francis M., Ananth, Amitha L., Mohamed, Ismail S., Nechai, Alla, Dao, Jasmin M., Fahey, Michael C., Aliu, Ermal, Falchek, Stephen, Press, Craig A., Treat, Lauren, Eschbach, Krista, Starks, Angela, Kammeyer, Ryan, Bear, Joshua J., Jacobson, Mona, Chernuha, Veronika, Meibos, Bailey, Wong, Kristen, Sweney, Matthew T., Espinoza, A. Chris, Van Orman, Colin B., Weinstock, Arie, Kumar, Ashutosh, Soler-Alfonso, Claudia, Nolan, Danielle A., Raza, Muhammad, Rojas Carrion, Miguel David, Chari, Geetha, Marsh, Eric D., Shiloh-Malawsky, Yael, Parikh, Sumit, Gonzalez-Giraldo, Ernesto, Fulton, Stephen, Sogawa, Yoshimi, Burns, Kaitlyn, Malets, Myroslava, Montiel Blanco, Johnny David, Habela, Christa W., Wilson, Carey A., Guzmán, Guillermo G., Pavliuk, Mariia
Publicado 2022