Importance of Population-Based Cancer Risk Information in the Care of Patients With Rare Genetic Disorders

por Plon, Sharon E.
Publicado 2022

Insights from the 2018 Biology of Genomes meeting

por Oak, Ninad, Plon, Sharon E.
Publicado 2018

Bernoulli mixture models in application to the evaluation of algorithms estimating functionality of missense mutations

por Hicks, Stephanie, Plon, Sharon E, Kimmel, Marek
Publicado 2012

Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines

por Ghosh, Rajarshi, Oak, Ninad, Plon, Sharon E.
Publicado 2017

Pediatric Rhabdomyosarcoma: Epidemiology and Genetic Susceptibility

por Martin-Giacalone, Bailey A., Weinstein, P. Adam, Plon, Sharon E., Lupo, Philip J.
Publicado 2021

A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen)

por Ritter, Deborah I., Rao, Shruti, Kulkarni, Shashikant, Madhavan, Subha, Offit, Kenneth, Plon, Sharon E.
Publicado 2019

Defective mitochondrial peroxiredoxin-3 results in sensitivity to oxidative stress in Fanconi anemia

por Mukhopadhyay, Sudit S., Leung, Kathryn S., Hicks, M. John, Hastings, Philip J., Youssoufian, Hagop, Plon, Sharon E.
Publicado 2006

Experiences and Attitudes of Genome Investigators Regarding Return of Individual Genetic Test Results

por Ramoni, Rachel B., McGuire, Amy L., Robinson, Jill Oliver, Morley, Debra S., Plon, Sharon E., Joffe, Steven
Publicado 2013

ITD assembler: an algorithm for internal tandem duplication discovery from short-read sequencing data

por Rustagi, Navin, Hampton, Oliver A, Li, Jie, Xi, Liu, Gibbs, Richard A., Plon, Sharon E., Kimmel, Marek, Wheeler, David A.
Publicado 2016

Genome-wide sequencing in acutely ill infants: genomic medicine’s critical application?

por Friedman, Jan M., Bombard, Yvonne, Cornel, Martina C., Fernandez, Conrad V., Junker, Anne K., Plon, Sharon E., Stark, Zornitza, Knoppers, Bartha Maria
Publicado 2018

Combined Bioinformatic and Splicing Analysis of Likely Benign Intronic and Synonymous Variants Reveals Evidence for Pathogenicity

por Hirschi, Owen R., Felker, Stephanie A., Rednam, Surya P., Vallance, Kelly L., Parsons, D. Williams, Roy, Angshumoy, Cooper, Gregory M., Plon, Sharon E.
Publicado 2023

Ancestry-specific predisposing germline variants in cancer

por Oak, Ninad, Cherniack, Andrew D., Mashl, R. Jay, Hirsch, Fred R., Ding, Li, Beroukhim, Rameen, Gümüş, Zeynep H., Plon, Sharon E., Huang, Kuan-lin
Publicado 2020

Male Sex and the Risk of Childhood Cancer: The Mediating Effect of Birth Defects

por Marcotte, Erin L, Schraw, Jeremy M, Desrosiers, Tania A, Nembhard, Wendy N, Langlois, Peter H, Canfield, Mark A, Meyer, Robert E, Plon, Sharon E, Lupo, Philip J
Publicado 2020

Identifying Gene Disruptions in Novel Balanced de novo Constitutional Translocations in Childhood Cancer Patients by Whole Genome Sequencing

por Ritter, Deborah I., Haines, Katherine, Cheung, Hannah, Davis, Caleb F., Lau, Ching C., Berg, Jonathan S., Brown, Chester W., Thompson, Patrick A., Gibbs, Richard, Wheeler, David A., Plon, Sharon E.
Publicado 2015

Childhood cancer risk in those with chromosomal and non-chromosomal congenital anomalies in Washington State: 1984-2013

por Norwood, Marlena S., Lupo, Philip J., Chow, Eric J., Scheurer, Michael E., Plon, Sharon E., Danysh, Heather E., Spector, Logan G., Carozza, Susan E., Doody, David R., Mueller, Beth A.
Publicado 2017

Germline POLE mutation in a child with hypermutated medulloblastoma and features of constitutional mismatch repair deficiency

por Lindsay, Holly, Scollon, Sarah, Reuther, Jacquelyn, Voicu, Horatiu, Rednam, Surya P., Lin, Frank Y., Fisher, Kevin E., Chintagumpala, Murali, Adesina, Adekunle M., Parsons, D. Will, Plon, Sharon E., Roy, Angshumoy
Publicado 2019

Identification of USP9X as a leukemia susceptibility gene

por Sisoudiya, Saumya Dushyant, Mishra, Pamela, Li, He, Schraw, Jeremy M., Scheurer, Michael E., Salvi, Sejal, Doddapaneni, Harsha, Muzny, Donna, Mitchell, Danielle, Taylor, Olga, Sabo, Aniko, Lupo, Philip J., Plon, Sharon E.
Publicado 2023

Pediatric Oncologists’ Experiences Returning and Incorporating Genomic Sequencing Results into Cancer Care

por Hsu, Rebecca L., Gutierrez, Amanda M., Schellhammer, Sophie K., Robinson, Jill O., Scollon, Sarah, Street, Richard L., Salisbury, Alyssa N., Pereira, Stacey, Plon, Sharon E., Malek, Janet, Parsons, D. Williams, McGuire, Amy L.
Publicado 2021

Family history of cancer and childhood rhabdomyosarcoma: a report from the Children's Oncology Group and the Utah Population Database

por Lupo, Philip J, Danysh, Heather E, Plon, Sharon E, Curtin, Karen, Malkin, David, Hettmer, Simone, Hawkins, Douglas S, Skapek, Stephen X, Spector, Logan G, Papworth, Karin, Melin, Beatrice, Erhardt, Erik B, Grufferman, Seymour, Schiffman, Joshua D
Publicado 2015

PATH-27. MUTATION DETECTION USING PLASMA CELL-FREE DNA IN CHILDREN WITH CENTRAL NERVOUS SYSTEM TUMORS

por Mangum, Ross, Reuther, Jacquelyn, Baksi, Koel Sen, Zabriskie, Ryan C, Gandhi, Ilavarasi, Recinos, Alva, Potter, Samara L, Lin, Frank Y, Chintagumpala, Murali, Muzny, Donna M, Fisher, Kevin, Plon, Sharon E, Roy, Angshumoy, Parsons, D Williams
Publicado 2020