S. Topper

发表

Sources of discordance among germ-line variant classifications in ClinVar

Keith Nykamp, Yuya Kobayashi, Scott Topper, 2017, Genetics in Medicine.

Consistency of BRCA1 and BRCA2 Variant Classifications Among Clinical Diagnostic Laboratories

David Haussler, Benedict Paten, Melissa S. Cline, 2017, JCO precision oncology.

Molecular Systems Biology Peer Review Process File a Dynamic Model of Proteome Changes Reveals New Roles for Transcript Alteration in Yeast Transaction Report

A. Gasch, J. Coon, James Hose, 2022 .

Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

Keith Nykamp, Yuan-Yuan Ho, Yuya Kobayashi, 2017, Genetics in Medicine.

Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants

P. Radivojac, R. Casadio, O. Lichtarge, 2019, Human mutation.

Predominance of antibody-resistant SARS-CoV-2 variants in vaccine breakthrough cases from the San Francisco Bay Area, California

S. Philip, S. Topper, C. Chiu, 2021, Nature Microbiology.

Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX

Soma Das, S. Topper, C. Shoubridge, 2015, European Journal of Human Genetics.

Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.

A. Vanderver, R. Taft, J. Schreiber, 2015, American journal of human genetics.

LEAP:Usingmachine learning tosupportvariantclassification in a clinical setting

Anjali D. Zimmer, G. Mishne, S. Topper, 2020 .

Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach

Soma Das, Heidi L Rehm, Brian H Shirts, 2018, Human mutation.

Low-level constitutional mosaicism of a de novoBRCA1 gene mutation

E. Friedman, K. Nykamp, S. Topper, 2015, British Journal of Cancer.

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

S. Brenner, H. Rehm, P. Radivojac, 2022, American journal of human genetics.

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

Lea M. Starita, Fergus J. Couch, Jonathan S. Berg, 2019, Genome Medicine.

LEAP: Using machine learning to support variant classification in a clinical setting

Gilad Mishne, Anjali D. Zimmer, Scott Topper, 2020, Human mutation.

Intronic breakpoint signatures enhance detection and characterization of clinically relevant germline structural variants.

Anjali D. Zimmer, Lawrence S. Hon, S. Topper, 2021, The Journal of molecular diagnostics : JMD.

Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation

Keith Nykamp, Yuya Kobayashi, Stephen E Lincoln, 2017, Genome Medicine.

Exome sequencing and the genetics of intellectual disability

Soma Das, C. Ober, S. Topper, 2011, Clinical genetics.

Multi-Gene Panel Testing of 23,179 Individuals for Hereditary Cancer Risk Identifies Pathogenic Variant Carriers Missed by Current Genetic Testing Guidelines.

Anjali D. Zimmer, S. Topper, J. van den Akker, 2019, The Journal of molecular diagnostics : JMD.

Inferring Regulatory Networks from Time Series Expression Data and Relational Data Via Inductive Logic Programming

David Page, Vítor Santos Costa, Irene M. Ong, 2007, ILP.

Characterization of patients referred for non‐specific intellectual disability testing: the importance of autosomal genes for diagnosis

S. Topper, D. del Gaudio, K. Arndt, 2016, Clinical genetics.

Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation

S. Lincoln, Shan Yang, John Garcia, 2017, Genome Medicine.

Clinical Genetic Testing for the Cardiomyopathies and Arrhythmias: A Systematic Framework for Establishing Clinical Validity and Addressing Genotypic and Phenotypic Heterogeneity

Nicole M. Johnson, John Garcia, K. Nykamp, 2016, Front. Cardiovasc. Med..

Whole genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program

N. Lennon, R. Gibbs, D. Nickerson, 2021, medRxiv.

Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.

R. Nussbaum, S. Topper, Amie M. Blanco, 2019, JAMA oncology.

The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing

Soma Das, S. Topper, K. Arndt, 2014, Brain and Development.

Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.

Dana M. Bis-Brewer, S. Brenner, H. Rehm, 2023, American journal of human genetics.

The All of Us Research Program: Data quality, utility, and diversity

Lina M. Sulieman, Melissa A. Basford, David J. Schlueter, 2022, Patterns.

Stewardship of patient genomic data: A policy statement of the American College of Medical Genetics and Genomics (ACMG).

E. Clayton, W. Grody, S. Topper, 2021, Genetics in Medicine.

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.

Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program

N. Lennon, R. Gibbs, D. Nickerson, 2022, Genome Medicine.

The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing

Soma Das, S. Topper, K. Arndt, 2014, Brain and Development.