Publications by authors named "Scott Topper"

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Sounding out solutions: using SONAR to connect participants with relevant healthcare resources.
Carla McGruder, Kelly Tangney, Deanna Erwin, Jake Plewa, Karyn Onyeneho, Scott Topper

J Am Med Inform Assoc· December 2024

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Stewardship of patient genomic data: A policy statement of the American College of Medical Genetics and Genomics (ACMG).
Robert G Best, George Khushf, Sara Schonfeld Rabin-Havt, Ellen Wright Clayton, Theresa A Grebe, Scott Topper

Genet Med· March 2022

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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.
Eric Venner, Donna Muzny, Joshua D Smith, Kimberly Walker, Cynthia L Neben, Scott E Topper

Genome Med· March 2022

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Predominance of antibody-resistant SARS-CoV-2 variants in vaccine breakthrough cases from the San Francisco Bay Area, California.
Venice Servellita, Mary Kate Morris, Alicia Sotomayor-Gonzalez, Amelia S Gliwa, Erika Torres, Scott Topper

Nat Microbiol· February 2022

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Intronic Breakpoint Signatures Enhance Detection and Characterization of Clinically Relevant Germline Structural Variants.
Jeroen van den Akker, Lawrence Hon, Anjana Ondov, Ziga Mahkovec, Robert O'Connor, Scott Topper

J Mol Diagn· May 2021

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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, Elizabeth Chao, Jennifer L Gannon, Henry T Greely, Kelly D Farwell Hagman, Scott Topper

Genet Med· August 2020

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LEAP: Using machine learning to support variant classification in a clinical setting.
Carmen Lai, Anjali D Zimmer, Robert O'Connor, Serra Kim, Ray Chan, Scott Topper

Hum Mutat· June 2020

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Correction: Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Keith Nykamp, Michael Anderson, Martin Powers, John Garcia, Blanca Herrera, Scott Topper

Genet Med· January 2020

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Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants.
Melissa S Cline, Giulia Babbi, Sandra Bonache, Yue Cao, Rita Casadio, Scott Topper

Hum Mutat· September 2019

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Multi-Gene Panel Testing of 23,179 Individuals for Hereditary Cancer Risk Identifies Pathogenic Variant Carriers Missed by Current Genetic Testing Guidelines.
Cynthia L Neben, Anjali D Zimmer, Will Stedden, Jeroen van den Akker, Robert O'Connor, Scott Topper

J Mol Diagn· July 2019

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Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.
Amie M Blanco, Scott Topper, Robert L Nussbaum

JAMA Oncol· January 2019

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Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.
Steven M Harrison, Jill S Dolinksy, Wenjie Chen, Christin D Collins, Soma Das, Scott Topper

Hum Mutat· November 2018

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Corrigendum: Sources of discordance among germ-line variant classifications in ClinVar.
Shan Yang, Stephen E Lincoln, Yuya Kobayashi, Keith Nykamp, Robert L Nussbaum, Scott Topper

Genet Med· February 2018

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Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Keith Nykamp, Michael Anderson, Martin Powers, John Garcia, Blanca Herrera, Scott Topper

Genet Med· October 2017

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Sources of discordance among germ-line variant classifications in ClinVar.
Shan Yang, Stephen E Lincoln, Yuya Kobayashi, Keith Nykamp, Robert L Nussbaum, Scott Topper

Genet Med· October 2017

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Consistency of and Variant Classifications Among Clinical Diagnostic Laboratories.
Stephen E Lincoln, Shan Yang, Melissa S Cline, Yuya Kobayashi, Can Zhang, Scott Topper

JCO Precis Oncol· July 2017

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Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.
Yuya Kobayashi, Shan Yang, Keith Nykamp, John Garcia, Stephen E Lincoln, Scott E Topper

Genome Med· February 2017

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Clinical Genetic Testing for the Cardiomyopathies and Arrhythmias: A Systematic Framework for Establishing Clinical Validity and Addressing Genotypic and Phenotypic Heterogeneity.
John Garcia, Jackie Tahiliani, Nicole Marie Johnson, Sienna Aguilar, Daniel Beltran, Scott Topper

Front Cardiovasc Med· July 2016

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Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX.
Ching Moey, Scott Topper, Mary Karn, Amy Knight Johnson, Soma Das

Eur J Hum Genet· May 2016

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Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.
Cas Simons, Laurie B Griffin, Guy Helman, Gretchen Golas, Amy Pizzino, Scott Topper

Am J Hum Genet· April 2015

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The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing.
Christopher A Tan, Scott Topper, Catherine Ward Melver, Jennifer Stein, Amanda Reeder

Brain Dev· April 2014

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A dynamic model of proteome changes reveals new roles for transcript alteration in yeast.
M Violet Lee, Scott E Topper, Shane L Hubler, James Hose, Craig D Wenger

Mol Syst Biol· July 2011

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