Preschoolers Favor Their Ingroup When Resources Are Limited

por Lee, Kristy Jia Jin, Esposito, Gianluca, Setoh, Peipei
Publicado 2018

The copper chelator ATN-224 induces caspase-independent cell death in diffuse large B cell lymphoma

por LEE, KRISTY, HART, MATTHEW R., BRIEHL, MARGARET M., MAZAR, ANDREW P., TOME, MARGARET E.
Publicado 2014

Establishing the Medical Actionability of Genomic Variants

por Goddard, Katrina A.B., Lee, Kristy, Buchanan, Adam H., Powell, Bradford C., Hunter, Jessica Ezzell
Publicado 2022

Racial Categorization Predicts Implicit Racial Bias in Preschool Children

por Setoh, Peipei, Lee, Kristy J. J., Zhang, Lijun, Qian, Miao K., Quinn, Paul C., Heyman, Gail D., Lee, Kang
Publicado 2017

De novo missense variant in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathy

por Latsko, Maeson S., Koboldt, Daniel C., Franklin, Samuel J., Hickey, Scott E., Williamson, Rachel K., Garner, Shannon, Ostendorf, Adam P., Lee, Kristy, White, Peter, Wilson, Richard K.
Publicado 2022

Glanzmann thrombasthenia: genetic basis and clinical correlates

por Botero, Juliana Perez, Lee, Kristy, Branchford, Brian R, Bray, Paul F, Freson, Kathleen, Lambert, Michele P., Luo, Minjie, Mohan, Shruthi, Ross, Justyne E., Bergmeier, Wolfgang, Di Paola, Jorge
Publicado 2020

Somatic variation as an incidental finding in the pediatric next-generation sequencing era

por Melas, Marilena, Mathew, Mariam T., Mori, Mari, Jayaraman, Vijayakumar, Wilson, Sarah A., Martin, Cortlandt, Jacobson-Kelly, Amanda E., Kelly, Ben J., Magrini, Vincent, Mardis, Elaine R., Cottrell, Catherine E., Lee, Kristy
Publicado 2021

Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease

por Ramadesikan, Swetha, Hickey, Scott, De Los Reyes, Emily, Patel, Anup D., Franklin, Samuel J., Brennan, Patrick, Crist, Erin, Lee, Kristy, White, Peter, McBride, Kim L., Koboldt, Daniel C., Wilson, Richard K.
Publicado 2022

Expanding the Clinical Utility of Targeted RNA Sequencing Panels beyond Gene Fusions to Complex, Intragenic Structural Rearrangements

por Schieffer, Kathleen M., Moccia, Amanda, Bucknor, Brianna A., Stonerock, Eileen, Jayaraman, Vijayakumar, Jenkins, Heather, McKinney, Aimee, Koo, Selene C., Mathew, Mariam T., Mardis, Elaine R., Lee, Kristy, Reshmi, Shalini C., Cottrell, Catherine E.
Publicado 2023

The who, what and why of research participants’ intentions to request a broad range of secondary findings in a diagnostic genomic sequencing study

por Rini, Christine, Khan, Cynthia M., Moore, Elizabeth, Roche, Myra I., Evans, James P., Berg, Jonathan S., Powell, Bradford C., Corbie-Smith, Giselle, Foreman, Ann Katherine M., Griesemer, Ida, Lee, Kristy, O’Daniel, Julianne M., Henderson, Gail E.
Publicado 2017

Factors influencing NCGENES research participants’ requests for non-medically actionable secondary findings

por Roche, Myra I., Griesemer, Ida, Khan, Cynthia M., Moore, Elizabeth, Lin, Feng-Chang, O’Daniel, Julianne M., Foreman, Ann Katherine M., Lee, Kristy, Powell, Bradford C., Berg, Jonathan S., Evans, James P., Henderson, Gail E., Rini, Christine
Publicado 2018

Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework

por Seifert, Bryce A., McGlaughon, Jennifer L., Jackson, Sarah A., Ritter, Deborah I, Roberts, Maegan E., Schmidt, Ryan J., Thompson, Bryony A., Jimenez, Sharisse, Trapp, Mackenzie, Lee, Kristy, Plon, Sharon E., Offit, Kenneth, Stadler, Zsofia K., Zhang, Liying, Greenblatt, Marc S., Ferber, Matthew J.
Publicado 2018

TP53 intron 1 hotspot rearrangements are specific to sporadic osteosarcoma and can cause Li-Fraumeni syndrome

por Ribi, Sebastian, Baumhoer, Daniel, Lee, Kristy, Edison, Teo, Audrey S.M., Madan, Babita, Zhang, Kang, Kohlmann, Wendy K., Yao, Fei, Lee, Wah Heng, Hoi, Qiangze, Cai, Shaojiang, Woo, Xing Yi, Tan, Patrick, Jundt, Gernot, Smida, Jan, Nathrath, Michaela, Sung, Wing-Kin, Schiffman, Joshua D., Virshup, David M., Hillmer, Axel M.
Publicado 2015

Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience

por Miller, Cecelia R., Lee, Kristy, Pfau, Ruthann B., Reshmi, Shalini C., Corsmeier, Donald J., Hashimoto, Sayaka, Dave-Wala, Ashita, Jayaraman, Vijayakumar, Koboldt, Daniel, Matthews, Theodora, Mouhlas, Danielle, Stein, Maggie, McKinney, Aimee, Grossman, Tom, Kelly, Benjamin J., White, Peter, Magrini, Vincent, Wilson, Richard K., Mardis, Elaine R., Cottrell, Catherine E.
Publicado 2020

Expanding the clinical phenotype of FGFR1 internal tandem duplication

por Kautto, Esko A., Schieffer, Kathleen M., McGrath, Sean, Miller, Anthony R., Hernandez-Gonzalez, Maria Elena, Choi, Samantha, Conces, Miriam R., Fernandez-Faith, Esteban, Ho, Mai-Lan, Lee, Kristy, Lillis, Anna P., Pearson, Gregory D., Kaler, Stephen G., Wilson, Richard K., Mardis, Elaine R., Magrini, Vincent, Leonard, Jeffrey, Cottrell, Catherine E.
Publicado 2022

A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing

por Berg, Jonathan S., Foreman, Ann Katherine M., O'Daniel, Julianne M., Booker, Jessica K., Boshe, Lacey, Carey, Timothy, Crooks, Kristy R., Jensen, Brian C., Juengst, Eric T., Lee, Kristy, Nelson, Daniel K., Powell, Bradford C., Powell, Cynthia M., Roche, Myra I., Skrzynia, Cecile, Strande, Natasha T., Weck, Karen E., Wilhelmsen, Kirk C., Evans, James P.
Publicado 2016

Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): Lessons Learned and Plans for the Future

por Milko, Laura V., Funke, Birgit H., Hershberger, Ray E., Azzariti, Danielle R., Lee, Kristy, Riggs, Erin R., Rivera-Munoz, Edgar A., Weaver, Meredith A., Niehaus, Annie, Currey, Erin L., Craigen, William J., Mao, Rong, Offit, Kenneth, Steiner, Robert D., Martin, Christa L., Rehm, Heidi L., Watson, Michael S., Ramos, Erin M., Plon, Sharon E., Berg, Jonathan S.
Publicado 2018

A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation

por Hunter, Jessica Ezzell, Irving, Stephanie A., Biesecker, Leslie G., Buchanan, Adam, Jensen, Brian, Lee, Kristy, Martin, Christa Lese, Milko, Laura, Muessig, Kristin, Niehaus, Annie D., O'Daniel, Julianne, Piper, Margaret A., Ramos, Erin M., Schully, Sheri D., Scott, Alan F., Slavotinek, Anne, Sobreira, Nara, Strande, Natasha, Weaver, Meredith, Webber, Elizabeth M., Williams, Marc S., Berg, Jonathan S., Evans, James P., Goddard, Katrina A.B.
Publicado 2016

ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines

por Preston, Christine G., Wright, Matt W., Madhavrao, Rao, Harrison, Steven M., Goldstein, Jennifer L., Luo, Xi, Wand, Hannah, Wulf, Bryan, Cheung, Gloria, Mandell, Mark E., Tong, Howard, Cheng, Shaung, Iacocca, Michael A., Pineda, Arturo Lopez, Popejoy, Alice B., Dalton, Karen, Zhen, Jimmy, Dwight, Selina S., Babb, Lawrence, DiStefano, Marina, O’Daniel, Julianne M., Lee, Kristy, Riggs, Erin R., Zastrow, Diane B., Mester, Jessica L., Ritter, Deborah I., Patel, Ronak Y., Subramanian, Sai Lakshmi, Milosavljevic, Aleksander, Berg, Jonathan S., Rehm, Heidi L., Plon, Sharon E., Cherry, J. Michael, Bustamante, Carlos D., Costa, Helio A.
Publicado 2022

Discovery of clinically relevant fusions in pediatric cancer

por LaHaye, Stephanie, Fitch, James R., Voytovich, Kyle J., Herman, Adam C., Kelly, Benjamin J., Lammi, Grant E., Arbesfeld, Jeremy A., Wijeratne, Saranga, Franklin, Samuel J., Schieffer, Kathleen M., Bir, Natalie, McGrath, Sean D., Miller, Anthony R., Wetzel, Amy, Miller, Katherine E., Bedrosian, Tracy A., Leraas, Kristen, Varga, Elizabeth A., Lee, Kristy, Gupta, Ajay, Setty, Bhuvana, Boué, Daniel R., Leonard, Jeffrey R., Finlay, Jonathan L., Abdelbaki, Mohamed S., Osorio, Diana S., Koo, Selene C., Koboldt, Daniel C., Wagner, Alex H., Eisfeld, Ann-Kathrin, Mrózek, Krzysztof, Magrini, Vincent, Cottrell, Catherine E., Mardis, Elaine R., Wilson, Richard K., White, Peter
Publicado 2021