Swaroop Aradhya

12.2k total citations · 2 hit papers
85 papers, 2.8k citations indexed

About

Swaroop Aradhya is a scholar working on Genetics, Molecular Biology and Pediatrics, Perinatology and Child Health. According to data from OpenAlex, Swaroop Aradhya has authored 85 papers receiving a total of 2.8k indexed citations (citations by other indexed papers that have themselves been cited), including 63 papers in Genetics, 32 papers in Molecular Biology and 15 papers in Pediatrics, Perinatology and Child Health. Recurrent topics in Swaroop Aradhya's work include Genomics and Rare Diseases (31 papers), Genomic variations and chromosomal abnormalities (25 papers) and Prenatal Screening and Diagnostics (15 papers). Swaroop Aradhya is often cited by papers focused on Genomics and Rare Diseases (31 papers), Genomic variations and chromosomal abnormalities (25 papers) and Prenatal Screening and Diagnostics (15 papers). Swaroop Aradhya collaborates with scholars based in United States, Canada and Australia. Swaroop Aradhya's co-authors include Athena M. Cherry, Daniel Pineda‐Alvarez, Ankita Patel, Erik C. Thorland, Deborah Ritter, Gordana Raca, Sarah T. South, Hutton M. Kearney, Erin Rooney Riggs and Sibel Kantarci and has published in prestigious journals such as SHILAP Revista de lepidopterología, The American Journal of Human Genetics and Human Molecular Genetics.

In The Last Decade

Swaroop Aradhya

78 papers receiving 2.7k 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.

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

2019 879 citations Erin Rooney Riggs, Erica Andersen et al. Genetics in Medicine profile →
Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing

2023 78 citations Elaine Chen, Flavia M. Facio et al. JAMA Network Open profile →

Peers — A (Enhanced Table)

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

Name	h						Papers	Cites
Swaroop Aradhya United States	26	1.9k	1.2k	590	278	219	85	2.8k
Ann Nordgren Sweden	29	997 0.5×	1.1k 1.0×	391 0.7×	246 0.9×	144 0.7×	134	2.6k
Antonio Novelli Italy	27	1.7k 0.9×	1.5k 1.3×	423 0.7×	125 0.4×	258 1.2×	305	3.4k
Hutton M. Kearney United States	21	2.2k 1.2×	1.1k 1.0×	1.0k 1.8×	350 1.3×	82 0.4×	40	3.2k
Ana Cristina Victorino Krepischi Brazil	27	1.4k 0.8×	1.4k 1.2×	295 0.5×	438 1.6×	100 0.5×	146	2.7k
Laura K. Conlin United States	27	1.6k 0.8×	1.2k 1.0×	561 1.0×	161 0.6×	73 0.3×	73	2.5k
Claudia Ruivenkamp Netherlands	31	1.8k 1.0×	1.8k 1.6×	393 0.7×	292 1.1×	341 1.6×	79	3.4k
Margherita Silengo Italy	29	1.7k 0.9×	2.0k 1.8×	617 1.0×	177 0.6×	153 0.7×	114	3.3k
Bruce Bennetts Australia	31	1.4k 0.7×	1.3k 1.1×	246 0.4×	111 0.4×	471 2.2×	101	3.2k
David Geneviève France	24	1.1k 0.6×	1.3k 1.2×	202 0.3×	235 0.8×	175 0.8×	80	2.3k
Nicole de Leeuw Netherlands	30	2.4k 1.3×	1.4k 1.2×	744 1.3×	191 0.7×	55 0.3×	104	3.2k

Countries citing papers authored by Swaroop Aradhya

Since Specialization

Citations

This map shows the geographic impact of Swaroop Aradhya'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 Swaroop Aradhya with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Swaroop Aradhya more than expected).

Fields of papers citing papers by Swaroop Aradhya

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Swaroop Aradhya. 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 Swaroop Aradhya. The network helps show where Swaroop Aradhya may publish in the future.

Co-authorship network of co-authors of Swaroop Aradhya

This figure shows the co-authorship network connecting the top 25 collaborators of Swaroop Aradhya. A scholar is included among the top collaborators of Swaroop Aradhya 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 Swaroop Aradhya. Swaroop Aradhya is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

Vatta, Matteo, Ellen S. Regalado, Michael Parfenov, et al.. (2025). Analysis of TTN Truncating Variants in >74 000 Cases Reveals New Clinically Relevant Gene Regions. Circulation Genomic and Precision Medicine. 18(2). e004982–e004982. 3 indexed citations

Hobbs, Matthew, Rachel E. Ellsworth, Jaysen Knezovich, et al.. (2025). Optimizing gene panels for equitable reproductive carrier screening: The Goldilocks approach. Genetics in Medicine. 27(6). 101387–101387. 1 indexed citations

Burnett, Leslie, Matthew Hobbs, Jaysen Knezovich, et al.. (2024). P493: The "Goldilocks" panel: Determining the optimal number of genes for reproductive genetic carrier screening. SHILAP Revista de lepidopterología. 2. 101392–101392.

Padigepati, Samskruthi Reddy, David Stafford, Christopher Tan, et al.. (2024). Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification. Human Genetics. 143(8). 995–1004. 3 indexed citations

Roggenbuck, Jennifer, Ana Morales, Christopher Tan, et al.. (2024). Diagnostic and clinical utility of comprehensive multigene panel testing for patients with neuropathy. Journal of the Peripheral Nervous System. 29(3). 363–367. 1 indexed citations

MacCarrick, Gretchen, Swaroop Aradhya, Emanuela Izzo, et al.. (2024). Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date. American Journal of Medical Genetics Part A. 194(9). e63646–e63646. 1 indexed citations

Kobayashi, Yuya, Elaine Chen, Flavia M. Facio, et al.. (2024). Clinical Variant Reclassification in Hereditary Disease Genetic Testing. JAMA Network Open. 7(11). e2444526–e2444526. 5 indexed citations

Truty, Rebecca, Susan Rojahn, Karen Ouyang, et al.. (2023). Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals. The American Journal of Human Genetics. 110(4). 551–564. 8 indexed citations

Morales, Ana, Kathryn E. Hatchell, Dianalee McKnight, et al.. (2023). Early genetic testing in pediatric epilepsy: Diagnostic and cost implications. Epilepsia Open. 9(1). 439–444. 4 indexed citations

10.

Aradhya, Swaroop, Flavia M. Facio, Toby Manders, et al.. (2023). Applications of artificial intelligence in clinical laboratory genomics. American Journal of Medical Genetics Part C Seminars in Medical Genetics. 193(3). e32057–e32057. 28 indexed citations

11.

Brlek, Petar, Darko Antičević, Vilim Molnar, et al.. (2021). X-Linked Osteogenesis Imperfecta Possibly Caused by a Novel Variant in PLS3. Genes. 12(12). 1851–1851. 11 indexed citations

12.

Neitzel, Dana, et al.. (2021). CLINICAL UTILITY OF HUMAN REVIEW: EXPERIENCE WITH PREVIOUSLY UNKNOWN REARRANGEMENT CARRIERS USING FAST-SEQS, A NEXT-GENERATION SEQUENCING PGT ASSAY. Fertility and Sterility. 116(3). e398–e398. 1 indexed citations

13.

Riggs, Erin Rooney, Erica Andersen, Athena M. Cherry, et al.. (2019). Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genetics in Medicine. 22(2). 245–257. 879 indexed citations breakdown →

14.

Truty, Rebecca, Joshua Paul, Michael Kennemer, et al.. (2018). Prevalence and properties of intragenic copy-number variation in Mendelian disease genes. Genetics in Medicine. 21(1). 114–123. 114 indexed citations

15.

Meck, Jeanne, Ludmila Matyakhina, Ayala Aviram, et al.. (2015). Noninvasive prenatal screening for aneuploidy: positive predictive values based on cytogenetic findings. American Journal of Obstetrics and Gynecology. 213(2). 214.e1–214.e5. 41 indexed citations

16.

Srivastava, Siddharth, Julie S. Cohen, Jonathan Pevsner, et al.. (2014). A novel variant in GABRB2 associated with intellectual disability and epilepsy. American Journal of Medical Genetics Part A. 164(11). 2914–2921. 53 indexed citations

17.

Aradhya, Swaroop, Rachel Lewis, Amanda Stafford, et al.. (2012). Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders. Genetics in Medicine. 14(6). 594–603. 48 indexed citations

18.

Mullegama, Sureni V., Christian R. Marshall, Anath C. Lionel, et al.. (2011). Severe intellectual disability and autistic features associated with microduplication 2q23.1. European Journal of Human Genetics. 20(4). 398–403. 27 indexed citations

19.

Aradhya, Swaroop & Athena M. Cherry. (2007). Array-based comparative genomic hybridization: clinical contexts for targeted and whole-genome designs. Genetics in Medicine. 9(9). 553–559. 23 indexed citations

20.

McGowan, Kelly A., Swaroop Aradhya, Helmut Fuchs, Martin Hrabě de Angelis, & Gregory S. Barsh. (2006). A Mouse Keratin 1 Mutation Causes Dark Skin and Epidermolytic Hyperkeratosis. Journal of Investigative Dermatology. 126(5). 1013–1016. 16 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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