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Author Details

Scott Topper
Invitae Corporation
2011
21
14
PMIDPaper TitleJournal TitlePublished Year
35013591Predominance of antibody-resistant SARS-CoV-2 variants in vaccine breakthrough cases from the San Francisco Bay Area, California.Nat Microbiol2022
35346344Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program.Genome Med2022
35253644Stewardship of patient genomic data: A policy statement of the American College of Medical Genetics and Genomics (ACMG).Genet Med2022
33621668Intronic Breakpoint Signatures Enhance Detection and Characterization of Clinically Relevant Germline Structural Variants.J Mol Diagn2021
30629138Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.JAMA Oncol2019
31294896Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants.Hum Mutat2019
31201024Multi-Gene Panel Testing of 23,179 Individuals for Hereditary Cancer Risk Identifies Pathogenic Variant Carriers Missed by Current Genetic Testing Guidelines.J Mol Diagn2019
29215652Corrigendum: Sources of discordance among germ-line variant classifications in ClinVar.Genet Med2018
30311378Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.Hum Mutat2018
28569743Sources of discordance among germ-line variant classifications in ClinVar.Genet Med2017
28166811Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.Genome Med2017
28492532Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.Genet Med2017
28782058Consistency of <i>BRCA1</i> and <i>BRCA2</i> Variant Classifications Among Clinical Diagnostic Laboratories.JCO Precis Oncol2017
25693842Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis.Clin Genet2016
26306640Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX.Eur J Hum Genet2016
27446933Clinical Genetic Testing for the Cardiomyopathies and Arrhythmias: A Systematic Framework for Establishing Clinical Validity and Addressing Genotypic and Phenotypic Heterogeneity.Front Cardiovasc Med2016
25817015Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.Am J Hum Genet2015
25633036Low-level constitutional mosaicism of a de novoBRCA1 gene mutation.Br J Cancer2015
23726037The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing.Brain Dev2014
21627642Exome sequencing and the genetics of intellectual disability.Clin Genet2011
21772262A dynamic model of proteome changes reveals new roles for transcript alteration in yeast.Mol Syst Biol2011
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Collaborators

Stephen E Lincoln
Co-authored papers 4
Robert L Nussbaum
Invitae Corporation
Co-authored papers 4
Alicia Y Zhou
University of California san francisco
Co-authored papers 3
Melissa S Cline
Genomics Institute, University of California Santa Cruz
Co-authored papers 2
Heidi L Rehm
The Broad Institute of MIT and Harvard
Co-authored papers 2
Christin D Collins
Emory University Department of Human Genetics Atlanta Georgia 30322.
Co-authored papers 1
Rita Casadio
Department of Pharmacy and Biotechnology, University of Bologna
Co-authored papers 1
Margaret Chen
MD Homer Stryker M.D. School of Medicine, Western Michigan University
Co-authored papers 1
Amanda B Spurdle
QIMR Berghofer Medical Research Institute
Co-authored papers 1
Olivier Lichtarge
Baylor College of Medicine
Co-authored papers 1
Castrense Savojardo
Department of Pharmacy and Biotechnology, University of Bologna
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David E Goldgar
University of Utah
Co-authored papers 1
Ginger A Metcalf
Co-authored papers 1
Kimberly F Doheny
Center for Inherited Disease Research, Johns Hopkins School of Medicine
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Charles Y Chiu
University of California-San Francisco
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Deborah A Nickerson
University of Washington
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Joshua D Smith
University of Washington
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Carole Ober
University of Chicago
Co-authored papers 1
Benedict Paten
UC Santa Cruz Genomics Institute, University of California
Co-authored papers 1
Steve Miller
University of CaliforniaSan Francisco
Co-authored papers 1
Robert G Best
University of South Carolina
Co-authored papers 1
David Haussler
Genomics Institute, University of California Santa Cruz
Co-authored papers 1
Pier Luigi Martelli
Department of Pharmacy and Biotechnology, University of Bologna
Co-authored papers 1
Brian H Shirts
Institute for Public Health Genetics, University of Washington
Co-authored papers 1
Audrey P Gasch
University of Wisconsin-Madison
Co-authored papers 1
Donna M Muzny
Baylor College of Medicine
Co-authored papers 1
Theresa A Grebe
Phoenix Children's Hospital
Co-authored papers 1
Sean D Mooney
University of Washington
Co-authored papers 1
Predrag Radivojac
Indiana University
Co-authored papers 1
Sara Schonfeld Rabin-Havt
Montefiore Medical Center, Albert Einstein College of Medicine
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Release 1.2