How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for RUNX1 variant curation for germline predis...

por Wu, David, Luo, Xi, Feurstein, Simone, Kesserwan, Chimene, Mohan, Shruthi, Pineda-Alvarez, Daniel E., Godley, Lucy A.
Publicado 2020

The genomic landscape of pediatric myelodysplastic syndromes

por Schwartz, Jason R., Ma, Jing, Lamprecht, Tamara, Walsh, Michael, Wang, Shuoguo, Bryant, Victoria, Song, Guangchun, Wu, Gang, Easton, John, Kesserwan, Chimene, Nichols, Kim E., Mullighan, Charles G., Ribeiro, Raul C., Klco, Jeffery M.
Publicado 2017

From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion

por Quinn, Emily A., Maciaszek, Jamie L., Pinto, Emilia M., Phillips, Aaron H., Berdy, David, Khandwala, Mohammad, Upadhyaya, Santhosh A., Zambetti, Gerard P., Kriwacki, Richard W., Ellison, David W., Nichols, Kim E., Kesserwan, Chimene
Publicado 2019

Genomic and transcriptomic analyses identify a prognostic gene signature and predict response to therapy in pleural and peritoneal mesothelioma

por Nair, Nishanth Ulhas, Jiang, Qun, Wei, Jun Stephen, Misra, Vikram Alexander, Morrow, Betsy, Kesserwan, Chimene, Hermida, Leandro C., Lee, Joo Sang, Mian, Idrees, Zhang, Jingli, Lebensohn, Alexandra, Miettinen, Markku, Sengupta, Manjistha, Khan, Javed, Ruppin, Eytan, Hassan, Raffit
Publicado 2023

Germline SAMD9 Mutation in Siblings with Monosomy 7 and Myelodysplastic Syndrome

por Schwartz, Jason R., Wang, Shuoguo, Ma, Jing, Lamprecht, Tamara, Walsh, Michael, Song, Guangchun, Raimondi, Susana C., Wu, Gang, Walsh, Michael F., McGee, Rose B., Kesserwan, Chimene, Nichols, Kim E., Cauff, Brian E., Ribeiro, Raul C., Wlodarski, Marcin, Klco, Jeffery M.
Publicado 2017

Tumor Mutation Burden, Expressed Neoantigens and the Immune Microenvironment in Diffuse Gliomas

por Yu, Guangyang, Pang, Ying, Merchant, Mythili, Kesserwan, Chimene, Gangalapudi, Vineela, Abdelmaksoud, Abdalla, Ranjan, Alice, Kim, Olga, Wei, Jun S., Chou, Hsien-Chao, Wen, Xinyu, Sindiri, Sivasish, Song, Young K., Xi, Liqiang, Kaplan, Rosandra N., Armstrong, Terri S., Gilbert, Mark R., Aldape, Kenneth, Khan, Javed, Wu, Jing
Publicado 2021

Pediatric Cancer Variant Pathogenicity Information Exchange (PeCanPIE): a cloud-based platform for curating and classifying germline variants

por Edmonson, Michael N., Patel, Aman N., Hedges, Dale J., Wang, Zhaoming, Rampersaud, Evadnie, Kesserwan, Chimene A., Zhou, Xin, Liu, Yanling, Newman, Scott, Rusch, Michael C., McLeod, Clay L., Wilkinson, Mark R., Rice, Stephen V., Soussi, Thierry, Taylor, J. Paul, Benatar, Michael, Becksfort, Jared B., Nichols, Kim E., Robison, Leslie L., Downing, James R., Zhang, Jinghui
Publicado 2019

Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma

por Maciaszek, Jamie L., Oak, Ninad, Chen, Wenan, Hamilton, Kayla V., McGee, Rose B., Nuccio, Regina, Mostafavi, Roya, Hines-Dowell, Stacy, Harrison, Lynn, Taylor, Leslie, Gerhardt, Elsie L., Ouma, Annastasia, Edmonson, Michael N., Patel, Aman, Nakitandwe, Joy, Pappo, Alberto S., Azzato, Elizabeth M., Shurtleff, Sheila A., Ellison, David W., Downing, James R., Hudson, Melissa M., Robison, Leslie L., Santana, Victor, Newman, Scott, Zhang, Jinghui, Wang, Zhaoming, Wu, Gang, Nichols, Kim E., Kesserwan, Chimene A.
Publicado 2019

Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing

por Newman, Scott, Nakitandwe, Joy, Kesserwan, Chimene A., Azzato, Elizabeth M., Wheeler, David A., Rusch, Michael, Shurtleff, Sheila, Hedges, Dale J., Hamilton, Kayla V., Foy, Scott G., Edmonson, Michael N., Thrasher, Andrew, Bahrami, Armita, Orr, Brent A., Klco, Jeffery M., Gu, Jiali, Harrison, Lynn W., Wang, Lu, Clay, Michael R., Ouma, Annastasia, Silkov, Antonina, Liu, Yanling, Zhang, Zhaojie, Liu, Yu, Brady, Samuel W., Zhou, Xin, Chang, Ti-Cheng, Pande, Manjusha, Davis, Eric, Becksfort, Jared, Patel, Aman, Wilkinson, Mark R., Rahbarinia, Delaram, Kubal, Manish, Maciaszek, Jamie L., Pastor, Victor, Knight, Jay, Gout, Alexander M., Wang, Jian, Gu, Zhaohui, Mullighan, Charles G., McGee, Rose B., Quinn, Emily A., Nuccio, Regina, Mostafavi, Roya, Gerhardt, Elsie L., Taylor, Leslie M., Valdez, Jessica M., Hines-Dowell, Stacy J., Pappo, Alberto S., Robinson, Giles, Johnson, Liza-Marie, Pui, Ching-Hon, Ellison, David W., Downing, James R., Zhang, Jinghui, Nichols, Kim E.
Publicado 2021

CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase

por Krysiak, Kilannin, Danos, Arpad M, Saliba, Jason, McMichael, Joshua F, Coffman, Adam C, Kiwala, Susanna, Barnell, Erica K, Sheta, Lana, Grisdale, Cameron J, Kujan, Lynzey, Pema, Shahil, Lever, Jake, Ridd, Sarah, Spies, Nicholas C, Andric, Veronica, Chiorean, Andreea, Rieke, Damian T, Clark, Kaitlin A, Reisle, Caralyn, Venigalla, Ajay C, Evans, Mark, Jani, Payal, Takahashi, Hideaki, Suda, Avila, Horak, Peter, Ritter, Deborah I, Zhou, Xin, Ainscough, Benjamin J, Delong, Sean, Kesserwan, Chimene, Lamping, Mario, Shen, Haolin, Marr, Alex R, Hoang, My H, Singhal, Kartik, Khanfar, Mariam, Li, Brian V, Lin, Wan-Hsin, Terraf, Panieh, Corson, Laura B, Salama, Yasser, Campbell, Katie M, Farncombe, Kirsten M, Ji, Jianling, Zhao, Xiaonan, Xu, Xinjie, Kanagal-Shamanna, Rashmi, King, Ian, Cotto, Kelsy C, Skidmore, Zachary L, Walker, Jason R, Zhang, Jinghui, Milosavljevic, Aleksandar, Patel, Ronak Y, Giles, Rachel H, Kim, Raymond H, Schriml, Lynn M, Mardis, Elaine R, Jones, Steven J M, Raca, Gordana, Rao, Shruti, Madhavan, Subha, Wagner, Alex H, Griffith, Malachi, Griffith, Obi L
Publicado 2022