Swaroop Aradhya

12.2k citations

85 papers · 2.8k · 2 hit papers · h-index 26

Impact in

Genetics top 0.5%
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Genetic Syndromes and Imprinting
Pediatrics, Perinatology and Child Health top 2%
- Prenatal Screening and Diagnostics
- Fetal and Pediatric Neurological Disorders

Papers in

Genetics 63
- Genomics and Rare Diseases 31
- Genomic variations and chromosomal abnormalities 25
- Genetics and Neurodevelopmental Disorders 11
- BRCA gene mutations in cancer 9
- Genetic and rare skin diseases. 6
Molecular Biology 32
- RNA modifications and cancer 5

Co-authors: Athena M. Cherry (7 shared papers)Daniel Pineda‐Alvarez (6 shared papers)Erik C. Thorland (3 shared papers)Ankita Patel (3 shared papers)Hutton M. Kearney (2 shared papers)Sarah T. South (2 shared papers)Erin Rooney Riggs (2 shared papers)Erica Andersen (2 shared papers)
Journals: Genetics in Medicine (12 papers)The American Journal of Human Genetics (4 papers)Human Molecular Genetics (3 papers)Reproductive BioMedicine Online (3 papers)JAMA Network Open (2 papers)
Partner nations: United States Canada Australia

In The Last Decade

Swaroop Aradhya

78 papers receiving 2.7k citations

Swaroop Aradhya's Hit Papers

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Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing 2023 · 78 citations

Peers

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-authors

The 25 scholars most cited alongside Swaroop Aradhya, 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 Swaroop Aradhya Line = papers co-authored together Swaroop Aradhya links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

Showing the 20 most-cited of 85 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	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 ·Erin Rooney Riggs, Erica Andersen, Athena M. Cherry, Sibel Kantarci, Hutton M. Kearney, Ankita Patel, Gordana Raca, Deborah Ritter, Sarah T. South, Erik C. Thorland, Daniel Pineda‐Alvarez, Swaroop Aradhya, Alastair J. Martin Hit paper breakdown →	2019	879
2	Mutations in the calcium-related gene IL1RAPL1 are associated with autism Human Molecular Genetics ·Amélie Piton, Jacques L. Michaud, Boon‐Peng Hoh, Swaroop Aradhya, J Gauthier, Laurent Mottron, Nathalie Champagne, Ronald G. Lafrenière, Fadi F. Hamdan, (unknown), Ridha Joober, Éric Fombonne, Claude Marineau, Patrick Cossette, Marie‐Pierre Dubé, Parviz Haghighi, Pierre Drapeau, Philip A. Barker, S. Carbonetto, Guy A. Rouleau	2008	149
3	A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations Human Molecular Genetics ·Swaroop Aradhya	2001	122
4	Prevalence and properties of intragenic copy-number variation in Mendelian disease genes Genetics in Medicine ·Rebecca Truty, Joshua Paul, Michael Kennemer, Stephen E. Lincoln, Eric C. Olivares, Robert L. Nussbaum, Swaroop Aradhya	2018	114
5	Atypical Forms of Incontinentia Pigmenti in Male Individuals Result from Mutations of a Cytosine Tract in Exon 10 of NEMO (IKK-γ) The American Journal of Human Genetics ·Swaroop Aradhya, Gilles Courtois, Aleks Rajkovic, Richard A. Lewis, Moise L. Levy, Alain Israël, David L. Nelson	2001	100
6	Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort Genetics in Medicine ·Kyle Retterer, Julie Scuffins, Daniel Schmidt, Rachel Lewis, Daniel Pineda‐Alvarez, Amanda Stafford, Lindsay Schmidt, Stephanie Warren, Federica Gibellini, Anastasia Kondakova, A. D. Blair, Sherri J. Bale, Ludmila Matyakhina, Jeanne Meck, Swaroop Aradhya, Eden Haverfield	2014	86
7	Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing JAMA Network Open ·Elaine Chen, Flavia M. Facio, Kerry Aradhya, Susan Rojahn, Kathryn E. Hatchell, Sienna Aguilar, Karen Ouyang, Sulagna C. Saitta, Andrea K. Hanson-Kwan, Nicole Nakousi‐Capurro, Eriko Takamine, Saumya Shekhar Jamuar, Dianalee McKnight, Britt Johnson, Swaroop Aradhya Hit paper breakdown →	2023	78
8	Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome American Journal of Medical Genetics ·Takeo Kubota, James S. Sutcliffe, Swaroop Aradhya, Gabriele Gillessen‐Kaesbach, Susan L. Christian, Bernhard Horsthemke, Arthur L. Beaudet, David H. Ledbetter	1996	76
9	Towards an evidence‐based process for the clinical interpretation of copy number variation Clinical Genetics ·ER Riggs, DM Church, Karen Hanson, VL Horner, E B Kaminsky, RM Kuhn, KE Wain, E. H. Williams, Swaroop Aradhya, HM Kearney, D H Ledbetter, ST South, EC Thorland, CL Martin	2011	72
10	Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy Epilepsia Open ·Rebecca Truty, Nila Patil, Raman Sankar, Joseph Sullivan, J Gordon Millichap, Gemma L. Carvill, Ali Entezam, Edward D. Esplin, Amy E Fuller, Michelle Hogue, Britt Johnson, Amirah Khouzam, Yuya Kobayashi, Rachel Lewis, Keith Nykamp, Darlene Riethmaier, Jody Westbrook, Michelle K. Zeman, Robert L. Nussbaum, Swaroop Aradhya	2019	72
11	NF-κB signaling and human disease Current Opinion in Genetics & Development ·Swaroop Aradhya	2001	69
12	Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes Human Molecular Genetics ·Swaroop Aradhya	2001	63
13	A novel variant in GABRB2 associated with intellectual disability and epilepsy American Journal of Medical Genetics Part A ·Siddharth Srivastava, Julie S. Cohen, Jonathan Pevsner, Swaroop Aradhya, Dianalee McKnight, Elizabeth Butler, Michael V. Johnston, Ali Fatemi	2014	53
14	Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders Genetics in Medicine ·Swaroop Aradhya, Rachel Lewis, Tahrra Bonaga, Nnenna Nwokekeh, Amanda Stafford, Barbara A. Boggs, Kathleen S. Hruska, Nizar Smaoui, John G. Compton, Gabriele Richard, Sharon F. Suchy	2012	48
15	Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay American Journal of Medical Genetics Part A ·Eric Muller, Swaroop Aradhya, Joan Atkin, Erin P. Carmany, Alison M. Elliott, Albert E. Chudley, Robin D. Clark, David B. Everman, Shannon Garner, Bryan D. Hall, Gail E. Herman, Emma Kivuva, Subhadra Ramanathan, David A. Stevenson, David W. Stockton, Louanne Hudgins	2011	42
16	Whole‐genome array‐CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features American Journal of Medical Genetics Part A ·Swaroop Aradhya, Melanie A. Manning, Alessandra Splendore, Athena M. Cherry	2007	42
17	Noninvasive prenatal screening for aneuploidy: positive predictive values based on cytogenetic findings American Journal of Obstetrics and Gynecology ·Jeanne Meck, Elizabeth Kramer Dugan, Ludmila Matyakhina, Ayala Aviram, Carolyn Trunca, Daniel Pineda‐Alvarez, Swaroop Aradhya, Rachel T. Klein, Athena M. Cherry	2015	41
18	Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories Genetics in Medicine ·Karen D. Tsuchiya, Lisa G. Shaffer, Swaroop Aradhya, Julie M. Gastier‐Foster, Ankita Patel, M. Katharine Rudd, Julie Sanford Biggerstaff, Warren G. Sanger, Stuart Schwartz, James Tepperberg, Erik C. Thorland, Beth A. Torchia, Arthur R. Brothman	2009	40
19	Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation The American Journal of Human Genetics ·Rebecca Truty, Karen Ouyang, Susan Rojahn, Sarah Garcia, Alexandre Colavin, Barbara Hamlington, Mary E. Freivogel, Robert L. Nussbaum, Keith Nykamp, Swaroop Aradhya	2021	38
20	Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis. Journal of Medical Genetics ·Takeo Kubota, Swaroop Aradhya, Michelle Macha, Ann C. M. Smith, Linda Surh, Jayavanthi Satish, Marion S. Verp, H L Nee, A Johnson, S. Christan, David H. Ledbetter	1996	33

About Swaroop Aradhya

Swaroop Aradhya is a scholar working on Genetics, Molecular Biology, Pediatrics, Perinatology and Child Health, Immunology and Plant Science, having authored 85 papers that have together received 2.8k indexed citations. Recurring topics across this work include Genomics and Rare Diseases (31 papers), Genomic variations and chromosomal abnormalities (25 papers), Prenatal Screening and Diagnostics (15 papers), Genetics and Neurodevelopmental Disorders (11 papers), BRCA gene mutations in cancer (9 papers), Chromosomal and Genetic Variations (6 papers), Genetic and rare skin diseases. (6 papers) and RNA modifications and cancer (5 papers). The work is most often cited by research in Genetics (1.9k citations), Pediatrics, Perinatology and Child Health (590 citations), Cancer Research (278 citations), Molecular Biology (1.2k citations) and Genetics (144 citations). Swaroop Aradhya has collaborated with scholars based in United States, Canada and Australia. Frequent co-authors include Athena M. Cherry, Daniel Pineda‐Alvarez, Erik C. Thorland, Ankita Patel, Hutton M. Kearney, Sarah T. South, Erin Rooney Riggs, Erica Andersen, Deborah Ritter and Sibel Kantarci. Their work appears in journals such as Genetics in Medicine, The American Journal of Human Genetics, Human Molecular Genetics, Reproductive BioMedicine Online and JAMA Network Open.

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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Swaroop Aradhya

Swaroop Aradhya's Hit Papers

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About Swaroop Aradhya

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