Sharon E. Plon

发表

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

Steven E. Brenner, Xi Luo, Lea M. Starita, 2019, Genome Medicine.

SV-STAT accurately detects structural variation via alignment to reference-based assemblies

Yan Ding, Donna M. Muzny, Hongmei Wang, 2016, Source Code for Biology and Medicine.

Myeloid Malignancy Variant Curation Expert Panel: An ASH-Sponsored Clingen Expert Panel to Optimize and Validate Acmg/AMP Variant Interpretation Guidelines for Genes Associated with Inherited Myeloid Neoplasms

Ying Wang, Shannon McWeeney, Christopher C. Porter, 2018 .

Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): Lessons Learned and Plans for the Future

Heidi L. Rehm, Danielle R. Azzariti, Erin M. Ramos, 2018, Genetics in Medicine.

CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record

Christopher G. Chute, Marc S. Williams, Peggy L. Peissig, 2015, J. Am. Medical Informatics Assoc..

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

Jie Li, Marek Kimmel, Navin Rustagi, 2016, BMC Bioinformatics.

ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants

Shawn Rynearson, Heidi L. Rehm, Aleksandar Milosavljevic, 2017, Genome Medicine.

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

Donna M. Muzny, Yan Ding, Eric Boerwinkle, 2017, The New England journal of medicine.

BCOR-CCNB3 Fusions Are Frequent in Undifferentiated Sarcomas of Male Children

Donna M. Muzny, Sharon E. Plon, David A. Wheeler, 2014, Modern Pathology.

Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource

J. Michael Cherry, Heidi L. Rehm, Erin Rooney Riggs, 2017, bioRxiv.

A brief history of human disease genetics

Mark I. McCarthy, Heidi L. Rehm, Jay Shendure, 2020, Nature.

Exploring concordance and discordance for return of incidental findings from clinical sequencing

Robert C. Green, Heidi L. Rehm, Jonathan S. Berg, 2012, Genetics in Medicine.

A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record

Matthew S. Lebo, Lucia A. Hindorff, Levi Garraway, 2013, Genetics in Medicine.

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

Sharon E. Plon, Ninad Oak, S. Plon, 2017, Genome Biology.

Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource

J. Michael Cherry, Avni Santani, Heidi L. Rehm, 2017, bioRxiv.

Erratum: Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716300593) (10.1016/j.ajhg.2016.03.024))

Robert C. Green, Michael O. Dorschner, Matthew S. Lebo, 2016 .

Erratum: Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716301069) (10.1016/j.ajhg.2016.04.011))

Sara Chandros Hull, Robert C. Green, Sean D. Mooney, 2016 .

Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease

Deborah I. Ritter, Wigard P. Kloosterman, Stef van Lieshout, 2016, The Journal of clinical investigation.

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

Subha Madhavan, Deborah I. Ritter, Shruti Rao, 2016, Genome Medicine.

ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants.

Ying Wang, Christopher C. Porter, Anna L. Brown, 2019, Blood advances.