Scott Topper

4.0k total citations · 1 hit paper
16 papers, 1.2k citations indexed

About

Scott Topper is a scholar working on Genetics, Molecular Biology and Cancer Research. According to data from OpenAlex, Scott Topper has authored 16 papers receiving a total of 1.2k indexed citations (citations by other indexed papers that have themselves been cited), including 11 papers in Genetics, 6 papers in Molecular Biology and 4 papers in Cancer Research. Recurrent topics in Scott Topper's work include Genomics and Rare Diseases (9 papers), Genomic variations and chromosomal abnormalities (7 papers) and Genetics and Neurodevelopmental Disorders (4 papers). Scott Topper is often cited by papers focused on Genomics and Rare Diseases (9 papers), Genomic variations and chromosomal abnormalities (7 papers) and Genetics and Neurodevelopmental Disorders (4 papers). Scott Topper collaborates with scholars based in United States, Australia and Israel. Scott Topper's co-authors include Keith Nykamp, Yuya Kobayashi, John Garcia, Blanca Herrera, Martin P. Powers, Nila Patil, Michael J. Anderson, Janita Thusberg, M. Jody Westbrook and Yuan-Yuan Ho and has published in prestigious journals such as British Journal of Cancer, Journal of the American Medical Informatics Association and Molecular Systems Biology.

In The Last Decade

Scott Topper

16 papers receiving 1.1k citations

Hit Papers

align trajectories

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

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

2017 465 citations Keith Nykamp, Michael J. Anderson et al. Genetics in Medicine profile →

Peers — A (Enhanced Table)

Peers by citation overlap · career bar shows stage (early→late) cites · hero ref

Name	h						Papers	Cites
Scott Topper United States	12	574	553	181	115	103	16	1.2k
Claudia Gonzaga‐Jauregui United States	21	736 1.3×	744 1.3×	201 1.1×	98 0.9×	154 1.5×	61	1.6k
Nikunj Sharma United States	12	319 0.6×	963 1.7×	178 1.0×	106 0.9×	54 0.5×	20	1.6k
Mais Hashem Saudi Arabia	23	544 0.9×	1.1k 1.9×	107 0.6×	65 0.6×	34 0.3×	51	1.8k
Tetsuya Ohbayashi Japan	21	502 0.9×	882 1.6×	175 1.0×	45 0.4×	38 0.4×	52	1.4k
Jin He China	12	174 0.3×	549 1.0×	158 0.9×	38 0.3×	70 0.7×	52	1.1k
Felicity Newell Australia	16	243 0.4×	795 1.4×	145 0.8×	81 0.7×	62 0.6×	29	1.3k
Kevin Ha Canada	20	335 0.6×	1.2k 2.2×	249 1.4×	50 0.4×	27 0.3×	31	1.5k
Fides D. Lay United States	16	306 0.5×	1.8k 3.3×	374 2.1×	55 0.5×	60 0.6×	20	2.1k
Dillon Phan United States	12	160 0.3×	792 1.4×	143 0.8×	39 0.3×	145 1.4×	16	1.0k
JT den Dunnen Netherlands	3	244 0.4×	402 0.7×	66 0.4×	50 0.4×	32 0.3×	6	825

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-authorship network of co-authors of Scott Topper

This figure shows the co-authorship network connecting the top 25 collaborators of Scott Topper. A scholar is included among the top collaborators of Scott Topper based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Scott Topper. Scott Topper is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

Sort: Min cites: Since: Top N: Style:

16 of 16 papers shown

Moore, Rhonda J., et al.. (2024). Sounding out solutions: using SONAR to connect participants with relevant healthcare resources. Journal of the American Medical Informatics Association. 31(12). 2811–2819. 1 indexed citations

Akker, Jeroen van den, Lawrence Hon, Robert O’Connor, et al.. (2021). Intronic Breakpoint Signatures Enhance Detection and Characterization of Clinically Relevant Germline Structural Variants. Journal of Molecular Diagnostics. 23(5). 612–629. 2 indexed citations

Deignan, Joshua L., Elizabeth Chao, Jennifer Gannon, et al.. (2020). 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. 22(8). 1285–1287. 12 indexed citations

Lai, Carmen, Anjali D. Zimmer, Robert O’Connor, et al.. (2020). LEAP: Using machine learning to support variant classification in a clinical setting. Human Mutation. 41(6). 1079–1090. 27 indexed citations

Neben, Cynthia L., Anjali D. Zimmer, Jeroen van den Akker, et al.. (2019). 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. 21(4). 646–657. 66 indexed citations

Kobayashi, Yuya, Shan Yang, Keith Nykamp, et al.. (2017). Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation. Genome Medicine. 9(1). 13–13. 129 indexed citations

Nykamp, Keith, Michael J. Anderson, Martin P. Powers, et al.. (2017). Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria. Genetics in Medicine. 19(10). 1105–1117. 465 indexed citations breakdown →

Lincoln, Stephen E., Shan Yang, Melissa Cline, et al.. (2017). Consistency ofBRCA1andBRCA2Variant Classifications Among Clinical Diagnostic Laboratories. JCO Precision Oncology. 1(1). 1–10. 22 indexed citations

Yang, Shan, Stephen E. Lincoln, Yuya Kobayashi, et al.. (2017). Sources of discordance among germ-line variant classifications in ClinVar. Genetics in Medicine. 19(10). 1118–1126. 68 indexed citations

10.

Garcia, John, Jackie Tahiliani, Amy Daly, et al.. (2016). 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. 3. 20–20. 19 indexed citations

11.

Friedman, Eitan, Noa Efrat, Lior Soussan‐Gutman, et al.. (2015). Low-level constitutional mosaicism of a de novoBRCA1 gene mutation. British Journal of Cancer. 112(4). 765–768. 21 indexed citations

12.

Topper, Scott, MARY N. KARN, Amy Knight Johnson, et al.. (2015). Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX. European Journal of Human Genetics. 24(5). 681–689. 11 indexed citations

13.

Tan, Christopher, Scott Topper, Daniela del Gaudio, et al.. (2015). Characterization of patients referred for non‐specific intellectual disability testing: the importance of autosomal genes for diagnosis. Clinical Genetics. 89(4). 478–483. 11 indexed citations

14.

Tan, Christopher, et al.. (2013). The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing. Brain and Development. 36(4). 351–355. 25 indexed citations

15.

Topper, Scott, Carole Ober, & Soma Das. (2011). Exome sequencing and the genetics of intellectual disability. Clinical Genetics. 80(2). 117–126. 48 indexed citations

16.

Topper, Scott, Shane L. Hubler, James Hose, et al.. (2011). A dynamic model of proteome changes reveals new roles for transcript alteration in yeast. Molecular Systems Biology. 7(1). 514–514. 237 indexed citations

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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