Nussbaum RL - Search Results

1

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: nussbaum rl. Neurol Genet. 2020 Mar 9;6(2):e412. doi: 10.1212/NXG.0000000000000412. eCollection 2020 Apr. Neurol Genet. 2020. PMID: 32337338 Free PMC article.

2

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

Aradhya S, Nussbaum RL. Aradhya S, et al. Among authors: nussbaum rl. 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.

3

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: nussbaum rl. 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.

4

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: nussbaum rl. 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.

5

A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing-Detected Variants with an Orthogonal Method in Clinical Genetic Testing.

Lincoln SE, Truty R, Lin CF, Zook JM, Paul J, Ramey VH, Salit M, Rehm HL, Nussbaum RL, Lebo MS. Lincoln SE, et al. Among authors: nussbaum rl. J Mol Diagn. 2019 Mar;21(2):318-329. doi: 10.1016/j.jmoldx.2018.10.009. Epub 2019 Jan 3. J Mol Diagn. 2019. PMID: 30610921 Free PMC article.

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. 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

Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Truty R, Patil N, Sankar R, Sullivan J, Millichap J, Carvill G, Entezam A, Esplin ED, Fuller A, Hogue M, Johnson B, Khouzam A, Kobayashi Y, Lewis R, Nykamp K, Riethmaier D, Westbrook J, Zeman M, Nussbaum RL, Aradhya S. Truty R, et al. Among authors: nussbaum rl. Epilepsia Open. 2019 Jul 1;4(3):397-408. doi: 10.1002/epi4.12348. eCollection 2019 Sep. Epilepsia Open. 2019. PMID: 31440721 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: nussbaum rl. 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

Prioritizing genes for systematic variant effect mapping.

Kuang D, Truty R, Weile J, Johnson B, Nykamp K, Araya C, Nussbaum RL, Roth FP. Kuang D, et al. Among authors: nussbaum rl. Bioinformatics. 2021 Apr 1;36(22-23):5448-5455. doi: 10.1093/bioinformatics/btaa1008. Bioinformatics. 2021. PMID: 33300982 Free PMC article.

10

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. 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.

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