E. Chao

发表

Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients

Tina Pesaran, C. Gau, S. Keiles, 2014, Genetics in Medicine.

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

Joshua L. Deignan, W. Chung, N. Spinner, 2016, Genetics in Medicine.

Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer

Robert Huether, Chunling Hu, Fergus J Couch, 2017, JAMA oncology.

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

Xiang Li, Aaron Elliott, Xiang Li, 2014, Genetics in Medicine.

Somatic TP53 variants frequently confound germline testing results

C. Gau, H. LaDuca, Jill S Dolinsky, 2017, Genetics in Medicine.

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants

Carla Oliveira, Rachid Karam, Chimene Kesserwan, 2018, Human mutation.

Clinical Laboratories Collaborate to Resolve Differences in Variant Interpretations Submitted to ClinVar

Soma Das, Heidi L Rehm, Danielle R Azzariti, 2017, Genetics in Medicine.

REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification

C. Gau, T. Pesaran, E. Chao, 2019, Scientific Reports.

Women with breast and uterine cancer are more likely to harbor germline mutations than women with breast or uterine cancer alone: A case for expanded gene testing.

H. LaDuca, E. Chao, M. Black, 2019, Gynecologic oncology.

Risk of Late-Onset Breast Cancer in Genetically Predisposed Women

James M. Hodge, Jack A. Taylor, C. Vachon, 2021, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Racial and Ethnic Differences in Multigene Hereditary Cancer Panel Test Results for Women With Breast Cancer

F. Couch, E. Polley, S. Hart, 2020, Journal of the National Cancer Institute.

Splice-Break: exploiting an RNA-seq splice junction algorithm to discover mitochondrial DNA deletion breakpoints and analyses of psychiatric disorders

R. Myers, H. Akil, A. Schatzberg, 2019, Nucleic acids research.

Comprehensive Paired Tumor/Germline Testing for Lynch Syndrome: Bringing Resolution to the Diagnostic Process

C. Gau, Negar M Ghahramani, H. LaDuca, 2019, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance

F. Couch, E. Iversen, E. Polley, 2022, NPJ genomic medicine.

ELP2 is a novel gene implicated in neurodevelopmental disabilities

A. Fatemi, E. Chao, S. Srivastava, 2015, American journal of medical genetics. Part A.

Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers.

H. LaDuca, Jill S Dolinsky, E. Chao, 2016, Cancer genetics.

Unexpected CDH1 Mutations Identified on Multigene Panels Pose Clinical Management Challenges.

Julie O. Culver, S. Gruber, Kevin J. McDonnell, 2017, JCO precision oncology.

ClinGen and Genetic Testing.

T. Pesaran, E. Chao, R. Karam, 2015, The New England journal of medicine.

RNA-Seq Analysis Is a Useful Tool in Variant Classification

H. LaDuca, T. Pesaran, E. Chao, 2020 .

Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes.

Xiang Li, X. Li, E. Chao, 2014, JIMD reports.

Germline Pathogenic Variants in Cancer Predisposition Genes Among Women With Invasive Lobular Carcinoma of the Breast

Jack A. Taylor, C. Vachon, J. Olson, 2021, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance

F. Couch, E. Polley, A. Monteiro, 2021, American journal of human genetics.

Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort

F. Couch, A. Spurdle, E. Polley, 2019, Genetics in Medicine.

Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes

K. Offit, S. Kulkarni, Kristy Lee, 2018, Human mutation.

Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms–mismatch repair (MAPP‐MMR)

Stephen B Gruber, Hoda Anton-Culver, Jonathan L. Velasquez, 2008, Human mutation.

A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients

F. Couch, E. Polley, S. Hart, 2019, Genetics in Medicine.

Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity

Sitao Wu, B. Thompson, H. LaDuca, 2019, Journal of Medical Genetics.

Mutations in RASA1 and GDF2 identified in patients with clinical features of hereditary hemorrhagic telangiectasia

E. Chao, Robert Huether, A. Elliott, 2015, Human Genome Variation.

Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing

R. Gelman, J. Garber, H. Rana, 2018, Journal of the National Cancer Institute.

Clinical germline diagnostic exome sequencing for hereditary cancer: Findings within novel candidate genes are prevalent.

K. Nathanson, H. LaDuca, E. Chao, 2018, Cancer genetics.

Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Lora J. H. Bean, W. Chung, H. Rehm, 2021, Genetics in Medicine.

Molecular models for the tissue specificity of DNA mismatch repair-deficient carcinogenesis

Steven M. Lipkin, Elizabeth C. Chao, S. Lipkin, 2006, Nucleic acids research.

Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer

D. Toppmeyer, H. Rana, S. Farber-Katz, 2019, JAMA network open.

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.

Julian Peto, Kyriaki Michailidou, Kamila Czene, 2016, Human molecular genetics.

Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results

F. Couch, P. Summerour, D. Goldgar, 2016, Breast Cancer Research and Treatment.

Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies

Donald G Basel, E. Chao, Sha Tang, 2015, Prenatal diagnosis.

Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.

C. Hawkins, A. Pollett, S. Gallinger, 2014, European journal of cancer.

The importance of proper bioinformatics analysis and clinical interpretation of tumor genomic profiling: a case study of undifferentiated sarcoma and a constitutional pathogenic BRCA2 mutation and an MLH1 variant of uncertain significance

E. Chao, E. Varga, N. Yeager, 2015, Familial Cancer.

Incidental detection of acquired variants in germline genetic and genomic testing: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

Joshua L. Deignan, H. Reddi, E. Chao, 2021, Genetics in Medicine.

Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing

E. Palmaer, E. Chao, Sha Tang, 2013, Genetics in Medicine.

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)

Marilyn M. Li, David T. Miller, K. Nathanson, 2020, Genetics in Medicine.

Classification of the canonical splice alteration MUTYH c.934-2A > G is likely benign based on RNA and clinical data

H. LaDuca, T. Pesaran, E. Chao, 2021, Cold Spring Harbor molecular case studies.

Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory

T. Pal, E. Chao, D. Cragun, 2014, Clinical genetics.

The Validation and Clinical Implementation of BRCAplus: A Comprehensive High-Risk Breast Cancer Diagnostic Assay

Elizabeth C. Chao, Tao Wang, S. Keiles, 2014, PloS one.

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels

Jefferey Chen, H. LaDuca, E. Chao, 2017, PloS one.

Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

Sitao Wu, S. Sajan, C. Mroske, 2016, Genetics in Medicine.

Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

Sitao Wu, S. Sajan, C. Mroske, 2018, Genetics in Medicine.

Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes

Sitao Wu, S. Domchek, Danielle B. McKenna, 2020, npj Precision Oncology.

Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG)

Joshua L. Deignan, W. Chung, H. Kearney, 2019, Genetics in Medicine.

Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer

R. Pilarski, H. LaDuca, E. Chao, 2022, npj Genomic Medicine.

Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer

R. Pilarski, H. LaDuca, E. Chao, 2022, NPJ genomic medicine.

Update on molecular diagnosis of hereditary hemorrhagic telangiectasia

A. Ganguly, E. Chao, J. Richards-Yutz, 2010, Human Genetics.

Recent advances in retinoblastoma genetic research

C. Shields, K. Nichols, A. Ganguly, 2009, Current opinion in ophthalmology.

VHL mosaicism: the added value of multi-tissue analysis

T. Stockley, Gregory S. Downs, E. Chao, 2022, NPJ genomic medicine.

Genetic Variation in 3-Hydroxy-3-Methylglutaryl CoA Reductase Modifies the Chemopreventive Activity of Statins for Colorectal Cancer

Stephen B Gruber, Gad Rennert, Victor Moreno, 2010, Cancer Prevention Research.

Hereditary predisposition to ovarian cancer, looking beyond BRCA1/BRCA2.

B. Monk, E. Chao, D. Chase, 2014, Gynecologic oncology.

Response to Cragun et al.

T. Pal, E. Chao, J. Dolinsky, 2015, Clinical genetics.

Diagnosing Hereditary Cancer Susceptibility Through Multigene Panel Testing

H. LaDuca, A. Stuenkel, V. Speare, 2017 .

Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation.

W. Foulkes, D. Ritter, M. Anderson, 2023, Human mutation.

Racial and ethnic differences in hereditary panel test results for with breast cancer

S. Hart, D. Goldgar, Chunling Hu, 2020 .

NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum

Sitao Wu, E. Hatchwell, A. Hasso, 2020, Journal of Medical Genetics.

Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C

C. Vachon, F. Couch, J. Palmer, 2023, Cancer research.

A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations

K. Nathanson, T. Drivas, M. Ritchie, 2023, medRxiv.

Somatic TP53 variants frequently confound germline testing results

C. Gau, H. LaDuca, T. Pesaran, 2017, Genetics in Medicine.

Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization

Joshua L. Deignan, Lora J. H. Bean, H. Rehm, 2018, Genetics in Medicine.

Genomic sequencing tests generate less uncertainty and higher diagnostic yield compared to multi-gene panel-based tests: Results of over 1.5 million tests

V. Jobanputra, C. Marshall, H. Rehm, 2022, medRxiv.

Points to consider when assessing relationships (or suspecting misattributed relationships) during family-based clinical genomic testing: a statement of the American College of Medical Genetics and Genomics (ACMG)

Joshua L. Deignan, H. Greely, S. Topper, 2020, Genetics in Medicine.

E. Chao, E. Varga, N. Yeager, 2015, Familial Cancer.

Recent advances in retinoblastoma genetic research

C. Shields, K. Nichols, A. Ganguly, 2009, Current opinion in ophthalmology.

Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG)

Joshua L. Deignan, W. Chung, H. Kearney, 2019, Genetics in Medicine.