Search Results - "Plon, Sharon"

Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines by Ghosh, Rajarshi, Oak, Ninad, Plon, Sharon E

“…The American College of Medical Genetics and American College of Pathologists (ACMG/AMP) variant classification guidelines for clinical reporting are widely…”
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Importance of Population-Based Cancer Risk Information in the Care of Patients With Rare Genetic Disorders by Plon, Sharon E

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Pediatric Cancer Predisposition and Surveillance: An Overview, and a Tribute to Alfred G. Knudson Jr by Brodeur, Garrett M, Nichols, Kim E, Plon, Sharon E, Schiffman, Joshua D, Malkin, David

“…The prevalence of childhood cancer attributable to genetic predisposition was generally considered very low. However, recent reports suggest that at least 10%…”
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Clinical Management and Tumor Surveillance Recommendations of Inherited Mismatch Repair Deficiency in Childhood by Tabori, Uri, Hansford, Jordan R, Achatz, Maria Isabel, Kratz, Christian P, Plon, Sharon E, Frebourg, Thierry, Brugières, Laurence

“…Replication proofreading is crucial to avoid mutation accumulation in dividing cells. In humans, proofreading and replication repair is maintained by the…”
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Updated recommendation for the benign stand‐alone ACMG/AMP criterion by Ghosh, Rajarshi, Harrison, Steven M., Rehm, Heidi L., Plon, Sharon E., Biesecker, Leslie G.

“…The Clinical Genome Resource (ClinGen) Sequence Variant Interpretation Working Group set out to refine the American College of Medical Genetics and Genomics…”
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A brief history of human disease genetics by Claussnitzer, Melina, Cho, Judy H., Collins, Rory, Cox, Nancy J., Dermitzakis, Emmanouil T., Hurles, Matthew E., Kathiresan, Sekar, Kenny, Eimear E., Lindgren, Cecilia M., MacArthur, Daniel G., North, Kathryn N., Plon, Sharon E., Rehm, Heidi L., Risch, Neil, Rotimi, Charles N., Shendure, Jay, Soranzo, Nicole, McCarthy, Mark I.

“…A primary goal of human genetics is to identify DNA sequence variants that influence biomedical traits, particularly those related to the onset and progression…”
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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation by Posey, Jennifer E, Harel, Tamar, Liu, Pengfei, Rosenfeld, Jill A, James, Regis A, Coban Akdemir, Zeynep H, Walkiewicz, Magdalena, Bi, Weimin, Xiao, Rui, Ding, Yan, Xia, Fan, Beaudet, Arthur L, Muzny, Donna M, Gibbs, Richard A, Boerwinkle, Eric, Eng, Christine M, Sutton, V. Reid, Shaw, Chad A, Plon, Sharon E, Yang, Yaping, Lupski, James R

“…Of over 7000 patients referred to a diagnostic laboratory, 28% had diagnoses based on DNA sequencing, 5% of whom had two or more diagnoses. Their phenotypes…”
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Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource by Strande, Natasha T., Riggs, Erin Rooney, Buchanan, Adam H., Ceyhan-Birsoy, Ozge, DiStefano, Marina, Dwight, Selina S., Goldstein, Jenny, Ghosh, Rajarshi, Seifert, Bryce A., Sneddon, Tam P., Wright, Matt W., Milko, Laura V., Cherry, J. Michael, Giovanni, Monica A., Murray, Michael F., O’Daniel, Julianne M., Ramos, Erin M., Santani, Avni B., Scott, Alan F., Plon, Sharon E., Rehm, Heidi L., Martin, Christa L., Berg, Jonathan S.

“…With advances in genomic sequencing technology, the number of reported gene-disease relationships has rapidly expanded. However, the evidence supporting these…”
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Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed by Hicks, Stephanie, Wheeler, David A., Plon, Sharon E., Kimmel, Marek

“…Multiple algorithms are used to predict the impact of missense mutations on protein structure and function using algorithm‐generated sequence alignments or…”
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Molecular profiling predicts meningioma recurrence and reveals loss of DREAM complex repression in aggressive tumors by Patel, Akash J., Wan, Ying-Wooi, Al-Ouran, Rami, Revelli, Jean-Pierre, Cardenas, Maria F., Oneissi, Mazen, Xi, Liu, Jalali, Ali, Magnotti, John F., Muzny, Donna M., Doddapaneni, HarshaVardhan, Sebastian, Sherly, Heck, Kent A., Goodman, J. Clay, Gopinath, Shankar P., Liu, Zhandong, Rao, Ganesh, Plon, Sharon E., Yoshor, Daniel, Wheeler, David A., Zoghbi, Huda Y., Klisch, Tiemo J.

“…Meningiomas account for one-third of all primary brain tumors. Although typically benign, about 20% of meningiomas are aggressive, and despite the rigor of the…”
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ClinGen — The Clinical Genome Resource by Rehm, Heidi L, Berg, Jonathan S, Brooks, Lisa D, Bustamante, Carlos D, Evans, James P, Landrum, Melissa J, Ledbetter, David H, Maglott, Donna R, Martin, Christa Lese, Nussbaum, Robert L, Plon, Sharon E, Ramos, Erin M, Sherry, Stephen T, Watson, Michael S

“…The assignment of pathogenic status to genetic variants has been stymied by conflicting study results and lack of a publicly accessible database, such as…”
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Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG) by Li, Marilyn M., Chao, Elizabeth, Esplin, Edward D., Miller, David T., Nathanson, Katherine L., Plon, Sharon E., Scheuner, Maren T., Stewart, Douglas R.

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Improvement of outcomes for TP53 carriers by Plon, Sharon E

“…Since the discovery that TP53 pathogenic germline variants are the most common underlying cause of Li-Fraumeni syndrome,1 there has been clinical frustration…”
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Genetic Predisposition to Childhood Cancer in the Genomic Era by Plon, Sharon E, Lupo, Philip J

“…Developments over the past five years have significantly advanced our ability to use genome-scale analyses-including high-density genotyping, transcriptome…”
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Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders by Yang, Yaping, Muzny, Donna M, Reid, Jeffrey G, Bainbridge, Matthew N, Willis, Alecia, Ward, Patricia A, Braxton, Alicia, Beuten, Joke, Xia, Fan, Niu, Zhiyv, Hardison, Matthew, Person, Richard, Bekheirnia, Mir Reza, Leduc, Magalie S, Kirby, Amelia, Pham, Peter, Scull, Jennifer, Wang, Min, Ding, Yan, Plon, Sharon E, Lupski, James R, Beaudet, Arthur L, Gibbs, Richard A, Eng, Christine M

“…Whole-exome sequencing can be used to obtain a genetic diagnosis for patients thought to be affected by a genetic disease. Here, investigators providing a…”
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Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children’s Oncology Group by Li, He, Sisoudiya, Saumya D, Martin-Giacalone, Bailey A, Khayat, Michael M, Dugan-Perez, Shannon, Marquez-Do, Deborah A, Scheurer, Michael E, Muzny, Donna, Boerwinkle, Eric, Gibbs, Richard A, Chi, Yueh-Yun, Barkauskas, Donald A, Lo, Tammy, Hall, David, Stewart, Douglas R, Schiffman, Joshua D, Skapek, Stephen X, Hawkins, Douglas S, Plon, Sharon E, Sabo, Aniko, Lupo, Philip J

“…Abstract Background Several cancer-susceptibility syndromes are reported to underlie pediatric rhabdomyosarcoma (RMS); however, to our knowledge there have…”
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Current Controversies in Prenatal Diagnosis 2: NIPT results suggesting maternal cancer should always be disclosed by Benn, Peter, Plon, Sharon E., Bianchi, Diana W.

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Next-generation sequencing in the clinic: are we ready? by Biesecker, Leslie G., Burke, Wylie, Kohane, Isaac, Plon, Sharon E., Zimmern, Ron

“…We asked five experts their opinions on issues that arise from new clinical tests that are based on next-generation sequencing. Crucial gaps in infrastructure…”
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Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel by Mester, Jessica L., Ghosh, Rajarshi, Pesaran, Tina, Huether, Robert, Karam, Rachid, Hruska, Kathleen S., Costa, Helio A., Lachlan, Katherine, Ngeow, Joanne, Barnholtz‐Sloan, Jill, Sesock, Kaitlin, Hernandez, Felicia, Zhang, Liying, Milko, Laura, Plon, Sharon E., Hegde, Madhuri, Eng, Charis

“…The ClinGen PTEN Expert Panel was organized by the ClinGen Hereditary Cancer Clinical Domain Working Group to assemble clinicians, researchers, and molecular…”
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ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation by Rivera‐Muñoz, Edgar A., Milko, Laura V., Harrison, Steven M., Azzariti, Danielle R., Kurtz, C. Lisa, Lee, Kristy, Mester, Jessica L., Weaver, Meredith A., Currey, Erin, Craigen, William, Eng, Charis, Funke, Birgit, Hegde, Madhuri, Hershberger, Ray E., Mao, Rong, Steiner, Robert D., Vincent, Lisa M., Martin, Christa L., Plon, Sharon E., Ramos, Erin, Rehm, Heidi L., Watson, Michael, Berg, Jonathan S.

“…Genome‐scale sequencing creates vast amounts of genomic data, increasing the challenge of clinical sequence variant interpretation. The demand for high‐quality…”
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