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Plon, Sharon E
Journal title:American Men & Women of Science : A Biographical Directory of Today’s Leaders in Physical, Biological and Related Sciences: OCO-QIN, 2022, p.9005-9005
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Plon, Sharon E
Journal title:American Men & Women of Science : A Biographical Directory of Today’s Leaders in Physical, Biological and Related Sciences: OGA-QYA, 2021, p.8975-8975
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ArticlesPeer ReviewedFull Text
Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines
Author / Creator:Ghosh, Rajarshi ; Oak, Ninad ; Plon, Sharon E
Publisher:England: BioMed Central Ltd
Journal title:Genome Biology, 2017-11, Vol.18 (1), p.225-225, Article 225
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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
Author / Creator: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
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2017-01, Vol.376 (1), p.21-31
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Molecular profiling predicts meningioma recurrence and reveals loss of DREAM complex repression in aggressive tumors
Author / Creator: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.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2019-10, Vol.116 (43), p.21715-21726
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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)
Author / Creator:Li, Marilyn M. ; Chao, Elizabeth ; Esplin, Edward D. ; Miller, David T. ; Nathanson, Katherine L. ; Plon, Sharon E. ; Scheuner, Maren T. ; Stewart, Douglas R.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2020-07, Vol.22 (7), p.1142-1148
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ArticlesPeer ReviewedFull Text
Insights from the 2018 Biology of Genomes meeting
Author / Creator:Oak, Ninad ; Plon, Sharon E
Publisher:England: BioMed Central Ltd
Journal title:Genome Biology, 2018-09, Vol.19 (1), p.146-146, Article 146
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Recurrent internal tandem duplications of BCOR in clear cell sarcoma of the kidney
Author / Creator:Roy, Angshumoy ; Kumar, Vijetha ; Zorman, Barry ; Fang, Erica ; Haines, Katherine M. ; Doddapaneni, HarshaVardhan ; Hampton, Oliver A. ; White, Simon ; Bavle, Abhishek A. ; Patel, Nimesh R. ; Eldin, Karen W. ; John Hicks, M. ; Rakheja, Dinesh ; Leavey, Patrick J. ; Skapek, Stephen X. ; Amatruda, James F. ; Nuchtern, Jed G. ; Chintagumpala, Murali M. ; Wheeler, David A. ; Plon, Sharon E. ; Sumazin, Pavel ; Parsons, D. Williams
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2015-11, Vol.6 (1), p.8891-8891, Article 8891
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Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations
Author / Creator:Wang, Xia ; Charng, Wu-Lin ; Chen, Chun-An ; Rosenfeld, Jill A ; Al Shamsi, Aisha ; Al-Gazali, Lihadh ; McGuire, Marianne ; Mew, Nicholas Ah ; Arnold, Georgianne L ; Qu, Chunjing ; Ding, Yan ; Muzny, Donna M ; Gibbs, Richard A ; Eng, Christine M ; Walkiewicz, Magdalena ; Xia, Fan ; Plon, Sharon E ; Lupski, James R ; Schaaf, Christian P ; Yang, Yaping
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2017-04, Vol.49 (4), p.613-617
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ArticlesPeer ReviewedFull Text
Childhood cancer risk in those with chromosomal and non-chromosomal congenital anomalies in Washington State: 1984-2013
Author / Creator: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
Publisher:United States: Public Library of Science
Journal title:PloS one, 2017-06, Vol.12 (6), p.e0179006-e0179006
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ArticlesPeer ReviewedFull Text
Ancestry-specific predisposing germline variants in cancer
Author / Creator:Oak, Ninad ; Cherniack, Andrew D ; Mashl, R Jay ; Hirsch, Fred R ; Ding, Li ; Beroukhim, Rameen ; Gümüş, Zeynep H ; Plon, Sharon E ; Huang, Kuan-Lin
Publisher:England: BioMed Central Ltd
Journal title:Genome medicine, 2020-05, Vol.12 (1), p.51-15, Article 51
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ArticlesPeer ReviewedFull Text
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
Author / Creator:YAPING YANG ; MUZNY, Donna M ; HARDISON, Matthew ; PERSON, Richard ; MIR REZA BEKHEIRNIA ; LEDUC, Magalie S ; KIRBY, Amelia ; PHAM, Peter ; SCULL, Jennifer ; MIN WANG ; YAN DING ; PLON, Sharon E ; REID, Jeffrey G ; LUPSKI, James R ; BEAUDET, Arthur L ; GIBBS, Richard A ; ENG, Christine M ; BAINBRIDGE, Matthew N ; WILLIS, Alecia ; WARD, Patricia A ; BRAXTON, Alicia ; BEUTEN, Joke ; FAN XIA ; NIU, Zhiyv
Publisher:Waltham, MA: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2013-10, Vol.369 (16), p.1502-1511
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Using multiplexed functional data to reduce variant classification inequities in underrepresented populations
Author / Creator:Dawood, Moez ; Fayer, Shawn ; Pendyala, Sriram ; Post, Mason ; Kalra, Divya ; Patterson, Karynne ; Venner, Eric ; Muffley, Lara A ; Fowler, Douglas M ; Rubin, Alan F ; Posey, Jennifer E ; Plon, Sharon E ; Lupski, James R ; Gibbs, Richard A ; Starita, Lea M ; Robles-Espinoza, Carla Daniela ; Coyote-Maestas, Willow ; Gallego Romero, Irene
Publisher:England: BioMed Central Ltd
Journal title:Genome medicine, 2024-12, Vol.16 (1), p.143-16, Article 143
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Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future
Author / Creator: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.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-04, Vol.21 (4), p.987-993
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Somatic cancer variant curation and harmonization through consensus minimum variant level data
Author / Creator:Ritter, Deborah I ; Roychowdhury, Sameek ; Roy, Angshumoy ; Rao, Shruti ; Landrum, Melissa J ; Sonkin, Dmitriy ; Shekar, Mamatha ; Davis, Caleb F ; Hart, Reece K ; Micheel, Christine ; Weaver, Meredith ; Van Allen, Eliezer M ; Parsons, Donald W ; McLeod, Howard L ; Watson, Michael S ; Plon, Sharon E ; Kulkarni, Shashikant ; Madhavan, Subha
Publisher:England: BioMed Central Ltd
Journal title:Genome medicine, 2016-11, Vol.8 (1), p.117-9, Article 117
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ArticlesPeer ReviewedFull Text
Phenotypic manifestations of copy number variation in chromosome 16p13.11
Author / Creator:Nagamani, Sandesh C Sreenath ; Erez, Ayelet ; Bader, Patricia ; Lalani, Seema R ; Scott, Daryl A ; Scaglia, Fernando ; Plon, Sharon E ; Tsai, Chun-Hui ; Reimschisel, Tyler ; Roeder, Elizabeth ; Malphrus, Amy D ; Eng, Patricia A ; Hixson, Patricia M ; Kang, Sung-Hae L ; Stankiewicz, Pawel ; Patel, Ankita ; Cheung, Sau Wai
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2011-03, Vol.19 (3), p.280-286
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Family-based exome-wide association study of childhood acute lymphoblastic leukemia among Hispanics confirms role of ARID5B in susceptibility
Author / Creator:Archer, Natalie P ; Perez-Andreu, Virginia ; Stoltze, Ulrik ; Scheurer, Michael E ; Wilkinson, Anna V ; Lin, Ting-Nien ; Qian, Maoxiang ; Goodings, Charnise ; Swartz, Michael D ; Ranjit, Nalini ; Rabin, Karen R ; Peckham-Gregory, Erin C ; Plon, Sharon E ; de Alarcon, Pedro A ; Zabriskie, Ryan C ; Antillon-Klussmann, Federico ; Najera, Cesar R ; Yang, Jun J ; Lupo, Philip J
Publisher:United States: Public Library of Science
Journal title:PloS one, 2017-08, Vol.12 (8), p.e0180488
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ArticlesPeer ReviewedFull Text
Sensitivity of RECQL4-deficient fibroblasts from Rothmund–Thomson syndrome patients to genotoxic agents
Author / Creator:Jin, Weidong ; Liu, Hao ; Zhang, Yiqun ; Otta, Subhendu K. ; Plon, Sharon E. ; Wang, Lisa L.
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Human genetics, 2008-07, Vol.123 (6), p.643-653
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A brief history of human disease genetics
Author / Creator: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.
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 2020-01, Vol.577 (7789), p.179-189
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ClinGen — The Clinical Genome Resource
Author / Creator: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
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2015-06, Vol.372 (23), p.2235-2242
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Plon, Sharon E

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Plon, Sharon E

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

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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

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Molecular profiling predicts meningioma recurrence and reveals loss of DREAM complex repression in aggressive tumors

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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)

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Insights from the 2018 Biology of Genomes meeting

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Recurrent internal tandem duplications of BCOR in clear cell sarcoma of the kidney

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Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

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

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Ancestry-specific predisposing germline variants in cancer

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Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

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Using multiplexed functional data to reduce variant classification inequities in underrepresented populations

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Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future

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Somatic cancer variant curation and harmonization through consensus minimum variant level data

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Phenotypic manifestations of copy number variation in chromosome 16p13.11

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Family-based exome-wide association study of childhood acute lymphoblastic leukemia among Hispanics confirms role of ARID5B in susceptibility

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Sensitivity of RECQL4-deficient fibroblasts from Rothmund–Thomson syndrome patients to genotoxic agents

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A brief history of human disease genetics

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ClinGen — The Clinical Genome Resource

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