Nussbaum RL - Search Results

1

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. Among authors: nussbaum rl. 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.

2

Sources of discordance among germ-line variant classifications in ClinVar.

Yang S, Lincoln SE, Kobayashi Y, Nykamp K, Nussbaum RL, Topper S. Yang S, et al. Among authors: nussbaum rl. Genet Med. 2017 Oct;19(10):1118-1126. doi: 10.1038/gim.2017.60. Epub 2017 Jun 1. Genet Med. 2017. PMID: 28569743 Free PMC article.

3

Consistency of BRCA1 and BRCA2 Variant Classifications Among Clinical Diagnostic Laboratories.

Lincoln SE, Yang S, Cline MS, Kobayashi Y, Zhang C, Topper S, Haussler D, Paten B, Nussbaum RL. Lincoln SE, et al. Among authors: nussbaum rl. JCO Precis Oncol. 2017 Jul;1:PO.16.00020. doi: 10.1200/PO.16.00020. Epub 2017 Apr 11. JCO Precis Oncol. 2017. PMID: 28782058 Free PMC article.

4

Corrigendum: Sources of discordance among germ-line variant classifications in ClinVar.

Yang S, Lincoln SE, Kobayashi Y, Nykamp K, Nussbaum RL, Topper S. Yang S, et al. Among authors: nussbaum rl. Genet Med. 2018 Feb;20(2):282. doi: 10.1038/gim.2017.198. Epub 2017 Dec 7. Genet Med. 2018. PMID: 29215652 Free PMC article.

5

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.

6

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.

7

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.

8

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.

9

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.

10

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.

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