Mao R - Search Results

1

Prader-Willi and Angelman Syndromes: Mechanisms and Management.

Ma VK, Mao R, Toth JN, Fulmer ML, Egense AS, Shankar SP. Ma VK, et al. Among authors: mao r. Appl Clin Genet. 2023 Apr 6;16:41-52. doi: 10.2147/TACG.S372708. eCollection 2023. Appl Clin Genet. 2023. PMID: 37051256 Free PMC article. Review.

2

Molecular diagnosis of Prader-Willi and Angelman syndromes by methylation-specific melting analysis and methylation-specific multiplex ligation-dependent probe amplification.

Procter M, Chou LS, Tang W, Jama M, Mao R. Procter M, et al. Among authors: mao r. Clin Chem. 2006 Jul;52(7):1276-83. doi: 10.1373/clinchem.2006.067603. Epub 2006 May 11. Clin Chem. 2006. PMID: 16690734

3

Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Mao R, Krautscheid P, Graham RP, Ganguly A, Shankar S, Ferber M, Hegde M; ACMG Laboratory Quality Assurance Committee. Mao R, et al. Genet Med. 2021 Oct;23(10):1807-1817. doi: 10.1038/s41436-021-01207-9. Epub 2021 Jun 17. Genet Med. 2021. PMID: 34140662 Free article.

4

Shankar SP, Grimsrud K, Lanoue L, Egense A, Willis B, Hörberg J, AlAbdi L, Mayer K, Ütkür K, Monaghan KG, Krier J, Stoler J, Alnemer M, Shankar PR, Schaffrath R, Alkuraya FS, Brinkmann U, Eriksson LA, Lloyd K, Rauen KA; Undiagnosed Diseases Network. Shankar SP, et al. Genet Med. 2022 Jul;24(7):1567-1582. doi: 10.1016/j.gim.2022.03.014. Epub 2022 Apr 28. Genet Med. 2022. PMID: 35482014 Free PMC article.

5

Atypical presentation of Angelman syndrome with intact expressive language due to low-level mosaicism.

Punatar R, Egense A, Mao R, Procter M, Bosworth M, Quigley DI, Angkustsiri K, Shankar SP. Punatar R, et al. Among authors: mao r. Mol Genet Genomic Med. 2022 Oct;10(10):e2018. doi: 10.1002/mgg3.2018. Epub 2022 Aug 4. Mol Genet Genomic Med. 2022. PMID: 35929060 Free PMC article.

6

Multiple endocrine neoplasia type 2 (MEN2) and RET specific modifications of the ACMG/AMP variant classification guidelines and impact on the MEN2 RET database.

Margraf RL, Alexander RZ, Fulmer ML, Miller CE, Coupal E, Mao R. Margraf RL, et al. Among authors: mao r. Hum Mutat. 2022 Dec;43(12):1780-1794. doi: 10.1002/humu.24486. Epub 2022 Oct 31. Hum Mutat. 2022. PMID: 36251279

7

Bone resorption in syndromes of the Ras/MAPK pathway.

Stevenson DA, Schwarz EL, Carey JC, Viskochil DH, Hanson H, Bauer S, Weng HY, Greene T, Reinker K, Swensen J, Chan RJ, Yang FC, Senbanjo L, Yang Z, Mao R, Pasquali M. Stevenson DA, et al. Among authors: mao r. Clin Genet. 2011 Dec;80(6):566-73. doi: 10.1111/j.1399-0004.2010.01619.x. Epub 2011 Jan 19. Clin Genet. 2011. PMID: 21204800 Free PMC article.

8

Detecting mosaic variants in patients with somatic overgrowth syndromes using cell-free circulating DNA and deep sequencing.

Shen W, Flores-Daboub J, Viskochil D, Dugan SL, Best HD, Mao R. Shen W, et al. Among authors: mao r. J Med Genet. 2020 Nov;57(11):794-796. doi: 10.1136/jmedgenet-2019-106732. Epub 2020 Jan 28. J Med Genet. 2020. PMID: 31992579 No abstract available.

9

Assessing the strength of evidence for genes implicated in fatty acid oxidation disorders using the ClinGen clinical validity framework.

McGlaughon JL, Pasquali M, Wallace K, Ross J, Senol-Cosar O, Shen W, Weaver MA, Feigenbaum A, Lyon E, Enns GM, Mao R, Baudet HG. McGlaughon JL, et al. Among authors: mao r. Mol Genet Metab. 2019 Sep-Oct;128(1-2):122-128. doi: 10.1016/j.ymgme.2019.07.008. Epub 2019 Jul 18. Mol Genet Metab. 2019. PMID: 31399326

10

Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature.

Mohan S, Mayers M, Weaver M, Baudet H, De Biase I, Goldstein J, Mao R, McGlaughon J, Moser A, Pujol A, Suchy S, Yuzyuk T, Braverman NE. Mohan S, et al. Among authors: mao r. Mol Genet Metab. 2023 Jul;139(3):107604. doi: 10.1016/j.ymgme.2023.107604. Epub 2023 May 11. Mol Genet Metab. 2023. PMID: 37236006

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