Aradhya S - Search Results

1

Sudden Cardiac Death-A New Insight Into Potentially Fatal Genetic Markers.

Primorac D, Odak L, Perić V, Ćatić J, Šikić J, Radeljić V, Manola Š, Nussbaum R, Vatta M, Aradhya S, Sofrenović T, Matišić V, Molnar V, Skelin A, Mirat J, Brachmann J. Primorac D, et al. Among authors: aradhya s. Front Med (Lausanne). 2021 Mar 22;8:647412. doi: 10.3389/fmed.2021.647412. eCollection 2021. Front Med (Lausanne). 2021. PMID: 33829027 Free PMC article.

2

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 Free PMC article.

3

Genetics in mainstream medicine: Finally within grasp to influence healthcare globally.

Aradhya S, Nussbaum RL. Aradhya S, et al. Mol Genet Genomic Med. 2018 May 28;6(4):473-80. doi: 10.1002/mgg3.415. Online ahead of print. Mol Genet Genomic Med. 2018. PMID: 29807392 Free PMC article.

4

Prevalence and properties of intragenic copy-number variation in Mendelian disease genes.

Truty R, Paul J, Kennemer M, Lincoln SE, Olivares E, Nussbaum RL, Aradhya S. Truty R, et al. Among authors: aradhya s. Genet Med. 2019 Jan;21(1):114-123. doi: 10.1038/s41436-018-0033-5. Epub 2018 Jun 12. Genet Med. 2019. PMID: 29895855 Free PMC article.

5

Secondary findings on virtual panels: opportunities, challenges, and potential for preventive medicine.

Esplin ED, Haverfield E, Yang S, Aradhya S, Nussbaum RL. Esplin ED, et al. Among authors: aradhya s. Genet Med. 2019 May;21(5):1250-1251. doi: 10.1038/s41436-018-0302-3. Epub 2018 Sep 24. Genet Med. 2019. PMID: 30245515 Free article. No abstract available.

6

Response to "The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG)".

Nussbaum RL, Haverfield E, Esplin ED, Aradhya S. Nussbaum RL, et al. Among authors: aradhya s. Genet Med. 2019 Dec;21(12):2836-2837. doi: 10.1038/s41436-019-0572-4. Epub 2019 Jun 26. Genet Med. 2019. PMID: 31239557 Free article. No abstract available.

7

Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders.

Winder TL, Tan CA, Klemm S, White H, Westbrook JM, Wang JZ, Entezam A, Truty R, Nussbaum RL, McNally EM, Aradhya S. Winder TL, et al. Among authors: aradhya s. Neurol Genet. 2020 Mar 9;6(2):e412. doi: 10.1212/NXG.0000000000000412. eCollection 2020 Apr. Neurol Genet. 2020. PMID: 32337338 Free PMC article.

8

Correspondence on "Is there a duty to reinterpret genetic data? The ethical dimensions" by Appelbaum et al.

Faulkner N, Aradhya S, Aradhya KW, Nussbaum RL. Faulkner N, et al. Among authors: aradhya s, aradhya kw. Genet Med. 2021 Jan;23(1):232-233. doi: 10.1038/s41436-020-00954-5. Epub 2020 Sep 2. Genet Med. 2021. PMID: 32873930 Free article. No abstract available.

9

Common Variants in KCNE1, KCNH2, and SCN5A May Impact Cardiac Arrhythmia Risk.

Vatta M, Truty R, Garcia J, Callis TE, Hatchell K, Rojahn S, Morales A, Aradhya S, Nussbaum R. Vatta M, et al. Among authors: aradhya s. Circ Genom Precis Med. 2021 Feb;14(1):e003206. doi: 10.1161/CIRCGEN.120.003206. Epub 2021 Feb 1. Circ Genom Precis Med. 2021. PMID: 33517668 No abstract available.

10

Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation.

Truty R, Ouyang K, Rojahn S, Garcia S, Colavin A, Hamlington B, Freivogel M, Nussbaum RL, Nykamp K, Aradhya S. Truty R, et al. Among authors: aradhya s. Am J Hum Genet. 2021 Apr 1;108(4):696-708. doi: 10.1016/j.ajhg.2021.03.006. Epub 2021 Mar 19. Am J Hum Genet. 2021. PMID: 33743207 Free PMC article.

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