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

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

Clinical validation of genomic functional screen data: Analysis of observed BRCA1 variants in an unselected population cohort

por Schiabor Barrett, Kelly M., Masnick, Max, Hatchell, Kathryn E., Savatt, Juliann M., Banet, Natalie, Buchanan, Adam, Willard, Huntington F.
Publicado 2022

Multigene Panel Testing Yields High Rates of Clinically Actionable Variants Among Patients With Colorectal Cancer

por Coughlin, Sarah E., Heald, Brandie, Clark, Dana Farengo, Nielsen, Sarah M., Hatchell, Kathryn E., Esplin, Edward D., Katona, Bryson W.
Publicado 2022

Underdiagnosis of Hereditary Colorectal Cancers Among Medicare Patients: Genetic Testing Criteria for Lynch Syndrome Miss the Mark

por Muller, Charles, Nielsen, Sarah M., Hatchell, Kathryn E., Yang, Shan, Michalski, Scott T., Hamlington, Barbara, Nussbaum, Robert L., Esplin, Edward D., Kupfer, Sonia S.
Publicado 2021

Ashkenazi Jewish and Other White APC I1307K Carriers Are at Higher Risk for Multiple Cancers

por Forkosh, Esther, Bergel, Michael, Hatchell, Kathryn E., Nielsen, Sarah M., Heald, Brandie, Benson, Ariel A., Friedman, Eitan, Esplin, Edward D., Katz, Lior H.
Publicado 2022

Testing and Management of Iron Overload After Genetic Screening–Identified Hemochromatosis

por Savatt, Juliann M., Johns, Alicia, Schwartz, Marci L. B., McDonald, Whitney S., Salvati, Zachary M., Oritz, Nicole M., Masnick, Max, Hatchell, Kathryn, Hao, Jing, Buchanan, Adam H., Williams, Marc S.
Publicado 2023

Retrospective Cohort Study on the Limitations of Direct-to-Consumer Genetic Screening in Hereditary Breast and Ovarian Cancer

por Desai, Neelam V., Barrows, Elizabeth D., Nielsen, Sarah M., Hatchell, Kathryn E., Anderson, Michael J., Haverfield, Eden V., Herrera, Blanca, Esplin, Edward D., Lucassen, Anneke, Tung, Nadine M., Isaacs, Claudine
Publicado 2023

Comparison of Germline Genetic Testing Before and After a Medical Policy Covering Universal Testing Among Patients With Colorectal Cancer

por Moretz, Chad, Byfield, Stacey DaCosta, Hatchell, Kathryn E., Dalton, Joline, Onglao, Peter Nicholas, Hang, Lillian, Hansen, Pamela, Radford, Cristi, Nielsen, Sarah M., Heald, Brandie, Munro, Sandra B., Nussbaum, Robert L., Esplin, Edward D.
Publicado 2022

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

CDH1 germline variants are enriched in patients with colorectal cancer, gastric cancer, and breast cancer

por Adib, Elio, El Zarif, Talal, Nassar, Amin H., Akl, Elie W., Abou Alaiwi, Sarah, Mouhieddine, Tarek H., Esplin, Edward D., Hatchell, Kathryn, Nielsen, Sarah M., Rana, Huma Q., Choueiri, Toni K., Kwiatkowski, David J., Sonpavde, Guru
Publicado 2021

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

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

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study

por Haverfield, Eden V., Esplin, Edward D., Aguilar, Sienna J., Hatchell, Kathryn E., Ormond, Kelly E., Hanson-Kahn, Andrea, Atwal, Paldeep S., Macklin-Mantia, Sarah, Hines, Stephanie, Sak, Caron W.-M., Tucker, Steven, Bleyl, Steven B., Hulick, Peter J., Gordon, Ora K., Velsher, Lea, Gu, Jessica Y. J., Weissman, Scott M., Kruisselbrink, Teresa, Abel, Christopher, Kettles, Michele, Slavotinek, Anne, Mendelsohn, Bryce A., Green, Robert C., Aradhya, Swaroop, Nussbaum, Robert L.
Publicado 2021

Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study

por Haverfield, Eden V., Esplin, Edward D., Aguilar, Sienna J., Hatchell, Kathryn E., Ormond, Kelly E., Hanson-Kahn, Andrea, Atwal, Paldeep S., Macklin-Mantia, Sarah, Hines, Stephanie, Sak, Caron W.-M., Tucker, Steven, Bleyl, Steven B., Hulick, Peter J., Gordon, Ora K., Velsher, Lea, Gu, Jessica Y. J., Weissman, Scott M., Kruisselbrink, Teresa, Abel, Christopher, Kettles, Michele, Slavotinek, Anne, Mendelsohn, Bryce A., Green, Robert C., Aradhya, Swaroop, Nussbaum, Robert L.
Publicado 2021

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