Sharon E. Plon

Overview

Best Publications

• Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

  Yaping Yang;Donna M. Muzny;Jeffrey G. Reid;Matthew N. Bainbridge

  2146
  Citations

• Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

  Yaping Yang;Donna M. Muzny;Fan Xia;Zhiyv Niu

  1460
  Citations

• ClinGen — The Clinical Genome Resource

  Heidi L. Rehm;Jonathan S. Berg;Lisa D. Brooks;Carlos D. Bustamante

  1227
  Citations

• Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

  Sharon E. Plon;Diana M. Eccles;Douglas Easton;William D. Foulkes

  970
  Citations

• Pathogenic Germline Variants in 10,389 Adult Cancers

  Kuan-Lin Huang;R Jay Mashl;Yige Wu;Deborah I Ritter

  848
  Citations

• Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

  Jennifer E. Posey;Tamar Harel;Pengfei Liu;Jill A. Rosenfeld

  660
  Citations

• Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

  Laura M. Amendola;Gail P. Jarvik;Michael C. Leo;Heather M. McLaughlin

  579
  Citations

• A brief history of human disease genetics.

  Melina Claussnitzer;Melina Claussnitzer;Melina Claussnitzer;Judy H Cho;Rory Collins;Nancy J Cox

  575
  Citations

• Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource

  Natasha T. Strande;Erin Rooney Riggs;Adam H. Buchanan;Ozge Ceyhan-Birsoy

  485
  Citations

• Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.

  D. Williams Parsons;Angshumoy Roy;Yaping Yang;Tao Wang

  454
  Citations

• Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.

  Sarah E. Brnich;Ahmad N. Abou Tayoun;Fergus J. Couch;Garry R. Cutting

  410
  Citations

• Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management

  Linyan Meng;Linyan Meng;Mohan Pammi;Anirudh Saronwala;Pilar Magoulas;Pilar Magoulas

  396
  Citations

• A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia

  Sohela Shah;Kasmintan A. Schrader;Esmé Waanders;Andrew E. Timms

  352
  Citations

• Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients.

  Lisa L. Wang;Moise L. Levy;Richard A. Lewis;Murali M. Chintagumpala

  341
  Citations

• Association Between Osteosarcoma and Deleterious Mutations in the RECQL4 Gene in Rothmund–Thomson Syndrome

  Lisa L. Wang;Anu Gannavarapu;Claudia A. Kozinetz;Moise L. Levy

  337
  Citations

• Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis

  Natalia Gomez-Ospina;Carol J. Potter;Rui Xiao;Kandamurugu Manickam

  287
  Citations

• Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed.

  Stephanie Hicks;David A. Wheeler;Sharon E. Plon;Sharon E. Plon;Marek Kimmel

  257
  Citations

• Retinoblastoma: Review of Current Management

  Murali Chintagumpala;Patricia Chevez-Barrios;Evelyn A. Paysse;Sharon E. Plon

  254
  Citations

• Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene

  L Van Maldergem;H A Siitonen;N Jalkh;E Chouery

  245
  Citations

• Germline mutations in shelterin complex genes are associated with familial glioma.

  Matthew N. Bainbridge;Georgina N. Armstrong;M. Monica Gramatges;Alison A. Bertuch

  227
  Citations