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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 2
2005 1
2006 2
2007 3
2008 1
2009 1
2010 2
2011 6
2012 8
2013 6
2014 4
2015 3
2017 1
2018 3
2019 6
2020 8
2021 16
2022 12
2023 8
2024 2

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80 results

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Page 1
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.
MacCarrick G, Aradhya S, Bailey M, Chu D, Hunt A, Izzo E, Krakow D, Mackenzie W, Poll S, Raggio C, Shediac R, White KK, McLaughlin HM, Seratti G. MacCarrick G, et al. Among authors: aradhya s. Am J Med Genet A. 2024 May 3:e63646. doi: 10.1002/ajmg.a.63646. Online ahead of print. Am J Med Genet A. 2024. PMID: 38702915
Early genetic testing in pediatric epilepsy: Diagnostic and cost implications.
Swartwood SM, Morales A, Hatchell KE, Moretz C, McKnight D, Demmer L, Chagnon S, Aradhya S, Esplin ED, Bonkowsky JL. Swartwood SM, et al. Among authors: aradhya s. Epilepsia Open. 2024 Feb;9(1):439-444. doi: 10.1002/epi4.12878. Epub 2023 Dec 16. Epilepsia Open. 2024. PMID: 38071479 Free PMC article.
Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, Yuan B, Boone PM, Groopman EE, Délot EC, Jain D, Sanchis-Juan A; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Starita LM, Talkowski M, Montgomery SB, Bamshad MJ, Chong JX, Wheeler MT, Berger SI, O'Donnell-Luria A, Sedlazeck FJ, Miller DE. Wojcik MH, et al. Am J Hum Genet. 2023 Aug 3;110(8):1229-1248. doi: 10.1016/j.ajhg.2023.06.009. Am J Hum Genet. 2023. PMID: 37541186 Free PMC article. Review.
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Rehm HL, Alaimo JT, Aradhya S, Bayrak-Toydemir P, Best H, Brandon R, Buchan JG, Chao EC, Chen E, Clifford J, Cohen ASA, Conlin LK, Das S, Davis KW, Del Gaudio D, Del Viso F, DiVincenzo C, Eisenberg M, Guidugli L, Hammer MB, Harrison SM, Hatchell KE, Dyer LH, Hoang LU, Holt JM, Jobanputra V, Karbassi ID, Kearney HM, Kelly MA, Kelly JM, Kluge ML, Komala T, Kruszka P, Lau L, Lebo MS, Marshall CR, McKnight D, McWalter K, Meng Y, Nagan N, Neckelmann CS, Neerman N, Niu Z, Paolillo VK, Paolucci SA, Perry D, Pesaran T, Radtke K, Rasmussen KJ, Retterer K, Saunders CJ, Spiteri E, Stanley C, Szuto A, Taft RJ, Thiffault I, Thomas BC, Thomas-Wilson A, Thorpe E, Tidwell TJ, Towne MC, Zouk H; Medical Genome Initiative Steering Committee. Rehm HL, et al. Among authors: aradhya s. Genet Med. 2023 Dec;25(12):100947. doi: 10.1016/j.gim.2023.100947. Epub 2023 Jul 30. Genet Med. 2023. PMID: 37534744
Applications of artificial intelligence in clinical laboratory genomics.
Aradhya S, Facio FM, Metz H, Manders T, Colavin A, Kobayashi Y, Nykamp K, Johnson B, Nussbaum RL. Aradhya S, et al. Am J Med Genet C Semin Med Genet. 2023 Sep;193(3):e32057. doi: 10.1002/ajmg.c.32057. Epub 2023 Jul 28. Am J Med Genet C Semin Med Genet. 2023. PMID: 37507620 Review.
Response to Spurdle et al.
Riggs ER, Andersen EF, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL. Riggs ER, et al. Among authors: aradhya s. Genet Med. 2023 Aug;25(8):100869. doi: 10.1016/j.gim.2023.100869. Epub 2023 Jun 1. Genet Med. 2023. PMID: 37261438 No abstract available.
Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals.
Truty R, Rojahn S, Ouyang K, Kautzer C, Kennemer M, Pineda-Alvarez D, Johnson B, Stafford A, Basel-Salmon L, Saitta S, Slavotinek A, Chandrasekharappa SC, Suarez CJ, Burnett L, Nussbaum RL, Aradhya S. Truty R, et al. Among authors: aradhya s. Am J Hum Genet. 2023 Apr 6;110(4):551-564. doi: 10.1016/j.ajhg.2023.02.013. Epub 2023 Mar 17. Am J Hum Genet. 2023. PMID: 36933558 Free PMC article.
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D, Morales A, Hatchell KE, Bristow SL, Bonkowsky JL, Perry MS, Berg AT, Borlot F, Esplin ED, Moretz C, Angione K, Ríos-Pohl L, Nussbaum RL, Aradhya S; ELEVIATE Consortium; Haldeman-Englert CR, Levy RJ, Parachuri VG, Lay-Son G, de Montellano DJD, Ramirez-Garcia MA, Benítez Alonso EO, Ziobro J, Chirita-Emandi A, Felix TM, Kulasa-Luke D, Megarbane A, Karkare S, Chagnon SL, Humberson JB, Assaf MJ, Silva S, Zarroli K, Boyarchuk O, Nelson GR, Palmquist R, Hammond KC, Hwang ST, Boutlier SB, Nolan M, Batley KY, Chavda D, Reyes-Silva CA, Miroshnikov O, Zuccarelli B, Amlie-Wolf L, Wheless JW, Seinfeld S, Kanhangad M, Freeman JL, Monroy-Santoyo S, Rodriguez-Vazquez N, Ryan MM, Machie M, Guerra P, Hassan MJ, Candee MS, Bupp CP, Park KL, Muller E 2nd, Lupo P, Pedersen RC, Arain AM, Murphy A, Schatz K, Mu W, Kalika PM, Plaza L, Kellogg MA, Lora EG, Carson RP, Svystilnyk V, Venegas V, Luke RR, Jiang H, Stetsenko T, Dueñas-Roque MM, Trasmonte J, Burke RJ, Hurst ACE, Smith DM, Massingham LJ, Pisani L, Costin CE, Ostrander B, Filloux FM, Ananth AL, Mohamed IS, Nechai A, Dao JM, Fahey MC, Aliu E, Falchek S, Press CA, Treat L, Eschbach K, Starks A, Kammeyer R, Bear JJ, Jacobson M, Che… See abstract for full author list ➔ McKnight D, et al. Among authors: aradhya s. JAMA Neurol. 2022 Dec 1;79(12):1267-1276. doi: 10.1001/jamaneurol.2022.3651. JAMA Neurol. 2022. PMID: 36315135 Free PMC article.
80 results