Scott Topper

4.0k citations

16 papers · 1.2k indexed · 1 hit paper · h-index 12

Impact in

Genetics top 5%
- Genomics and Rare Diseases
- BRCA gene mutations in cancer
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
Cancer Research top 10%
- Cancer Genomics and Diagnostics

Papers in ⓘ

Genetics 11
- Genomics and Rare Diseases 9
- Genomic variations and chromosomal abnormalities 7
- Genetics and Neurodevelopmental Disorders 4
- BRCA gene mutations in cancer 3
- Genetic Associations and Epidemiology 1
Cancer Research 4
- Cancer Genomics and Diagnostics 4

Co-authors: Keith Nykamp (5 shared papers)Yuya Kobayashi (4 shared papers)John Garcia (3 shared papers)Martin P. Powers (2 shared papers)Blanca Herrera (2 shared papers)M. Jody Westbrook (1 shared paper)Nila Patil (1 shared paper)Janita Thusberg (1 shared paper)
Journals: Genetics in Medicine (3 papers)Clinical Genetics (2 papers)Journal of Molecular Diagnostics (2 papers)Human Mutation (1 paper)British Journal of Cancer (1 paper)
Partner nations: United States Australia Israel

In The Last Decade

Scott Topper

16 papers receiving 1.1k citations

Hit Papers

align trajectories log scale

Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria 2017 · 465 citations

Peers

Countries citing papers authored by Scott Topper

Since Specialization

Citations

This map shows the geographic impact of Scott Topper's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Scott Topper with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Scott Topper more than expected).

Fields of papers citing papers by Scott Topper

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Scott Topper. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Scott Topper. The network helps show where Scott Topper may publish in the future.

Co-authors

The 25 scholars most cited alongside Scott Topper, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Scott Topper Line = papers co-authored together Scott Topper links everyone, so they are left out of the graph.

All Works

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16 of 16 papers shown

#	Work
1	Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria Genetics in Medicine ·Keith Nykamp, Michael J. Anderson, Martin P. Powers, John Garcia, Blanca Herrera, Yuan-Yuan Ho, Yuya Kobayashi, Nila Patil, Janita Thusberg, M. Jody Westbrook, Scott Topper Hit paper breakdown →	2017	465
2	A dynamic model of proteome changes reveals new roles for transcript alteration in yeast Molecular Systems Biology ·M Violet Lee, Scott Topper, Shane L. Hubler, James Hose, Craig D. Wenger, Joshua J. Coon, Audrey P. Gasch	2011	237
3	Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation Genome Medicine ·Yuya Kobayashi, Shan Yang, Keith Nykamp, John Garcia, Stephen E. Lincoln, Scott Topper	2017	129
4	Sources of discordance among germ-line variant classifications in ClinVar Genetics in Medicine ·Shan Yang, Stephen E. Lincoln, Yuya Kobayashi, Keith Nykamp, Robert L. Nussbaum, Scott Topper	2017	68
5	Multi-Gene Panel Testing of 23,179 Individuals for Hereditary Cancer Risk Identifies Pathogenic Variant Carriers Missed by Current Genetic Testing Guidelines Journal of Molecular Diagnostics ·Cynthia L. Neben, Anjali D. Zimmer, Will Stedden, Jeroen van den Akker, Robert O’Connor, Raymond C. Chan, Elaine Chen, Zheng Tan, Annette Leon, J Ji, Scott Topper, Alicia Y. Zhou	2019	66
6	Exome sequencing and the genetics of intellectual disability Clinical Genetics ·Scott Topper, Carole Ober, Soma Das	2011	48
7	LEAP: Using machine learning to support variant classification in a clinical setting Human Mutation ·Carmen Lai, Anjali D. Zimmer, Robert O’Connor, Serra Kim, Raymond C. Chan, Jeroen van den Akker, Alicia Y. Zhou, Scott Topper, Gilad Mishne	2020	27
8	The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing Brain and Development ·Christopher Tan, Scott Topper, Catherine Ward Melver, Jennifer Stein, Amanda Reeder, Kelly Arndt, Soma Das	2013	25
9	Consistency ofBRCA1andBRCA2Variant Classifications Among Clinical Diagnostic Laboratories JCO Precision Oncology ·Stephen E. Lincoln, Shan Yang, Melissa Cline, Yuya Kobayashi, Can Zhang, Scott Topper, David Haussler, Benedict Paten, Robert L. Nussbaum	2017	22
10	Low-level constitutional mosaicism of a de novoBRCA1 gene mutation British Journal of Cancer ·Eitan Friedman, Noa Efrat, Lior Soussan‐Gutman, Addie Dvir, Y. Kaplan, Tali Ekstein, Keith Nykamp, Martin P. Powers, Marina Rabideau, Jon M. Sorenson, Scott Topper	2015	21
11	Clinical Genetic Testing for the Cardiomyopathies and Arrhythmias: A Systematic Framework for Establishing Clinical Validity and Addressing Genotypic and Phenotypic Heterogeneity Frontiers in Cardiovascular Medicine ·John Garcia, Jackie Tahiliani, Nicole M. Johnson, Sienna Aguilar, Daniel Beltrán, Amy Daly, Emily Decker, Eden Haverfield, Blanca Herrera, Laura Murillo, Keith Nykamp, Scott Topper	2016	19
12	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) Genetics in Medicine ·Joshua L. Deignan, Elizabeth Chao, Jennifer Gannon, Henry T. Greely, Kelly D. Farwell Hagman, Rong Mao, Scott Topper	2020	12
13	Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX European Journal of Human Genetics ·Ching Moey, Scott Topper, MARY N. KARN, Amy Knight Johnson, Soma Das, Jorge Vidaurre, Cheryl Shoubridge	2015	11
14	Characterization of patients referred for non‐specific intellectual disability testing: the importance of autosomal genes for diagnosis Clinical Genetics ·Christopher Tan, Scott Topper, Daniela del Gaudio, Viswateja Nelakuditi, O A Shchelochkov, Małgorzata J.M. Nowaczyk, Susan Zeesman, Lauren Brady, Laura Russell, Naomi Meeks, Sujatha Sastry, Kelly Arndt, Frances Kobiernicki, R. Shaw, Soma Das	2015	11
15	Intronic Breakpoint Signatures Enhance Detection and Characterization of Clinically Relevant Germline Structural Variants Journal of Molecular Diagnostics ·Jeroen van den Akker, Lawrence Hon, Anjana Ondov, Ziga Mahkovec, Robert O’Connor, Raymond C. Chan, J. M. Lock, Anjali D. Zimmer, Asha Rostamianfar, Jeremy Ginsberg, Annette Leon, Scott Topper	2021	2
16	Sounding out solutions: using SONAR to connect participants with relevant healthcare resources Journal of the American Medical Informatics Association ·Carla McGruder, Kelly Tangney, Deanna Erwin, J Plewa, Karyn Onyeneho, Rhonda J. Moore, Anastasia L. Wise, Scott Topper, Alicia Y. Zhou	2024	1

About Scott Topper

Scott Topper is a scholar working on Genetics, Cancer Research, Molecular Biology, Cell Biology and Pathology and Forensic Medicine, having authored 16 papers that have together received 1.2k indexed citations. Recurring topics across this work include Genomics and Rare Diseases (9 papers), Genomic variations and chromosomal abnormalities (7 papers), Cancer Genomics and Diagnostics (4 papers), Genetics and Neurodevelopmental Disorders (4 papers), BRCA gene mutations in cancer (3 papers), Cardiac electrophysiology and arrhythmias (1 paper), Genetic Associations and Epidemiology (1 paper) and Mobile Health and mHealth Applications (1 paper). The work is most often cited by research in Genetics (574 citations), Cancer Research (181 citations), Molecular Biology (553 citations), Pathology and Forensic Medicine (115 citations) and Genetics (53 citations). Scott Topper has collaborated with scholars based in United States, Australia and Israel. Frequent co-authors include Keith Nykamp, Yuya Kobayashi, John Garcia, Martin P. Powers, Blanca Herrera, M. Jody Westbrook, Nila Patil, Janita Thusberg, Michael J. Anderson and Yuan-Yuan Ho. Their work appears in journals such as Genetics in Medicine, Clinical Genetics, Journal of Molecular Diagnostics, Human Mutation and British Journal of Cancer.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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