Mao R - Search Results

1

Non-Immune Hydrops, Hypotonia, Encephalopathy, and Liver Failure with Novel Compound Heterozygous AHCY Mutations.

Judkins AJ, MacQueen BC, Christensen RD, Comstock J, Mao R, Flores-Daboub J. Judkins AJ, et al. Among authors: mao r. Neonatology. 2018;114(4):337-340. doi: 10.1159/000489292. Epub 2018 Aug 17. Neonatology. 2018. PMID: 30121674

2

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.

3

Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics.

Palmquist R, Jenkins SM, Bentley D, Miller C, Mao R, Meibos B, Bayrak-Toydemir P, Tvrdik T, Nadauld LD, Bleyl SB, Chowdhury S, Ostrander B, Flores-Daboub J, Longo N, Tristani-Firouzi M, Hobbs C, Bonkowsky JL, Brunelli L. Palmquist R, et al. Among authors: mao r. Pediatr Res. 2022 Nov;92(5):1364-1369. doi: 10.1038/s41390-022-01965-5. Epub 2022 Feb 3. Pediatr Res. 2022. PMID: 35115709 Free PMC article.

4

Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia.

Lukacs V, Mathur J, Mao R, Bayrak-Toydemir P, Procter M, Cahalan SM, Kim HJ, Bandell M, Longo N, Day RW, Stevenson DA, Patapoutian A, Krock BL. Lukacs V, et al. Among authors: mao r. Nat Commun. 2015 Sep 21;6:8329. doi: 10.1038/ncomms9329. Nat Commun. 2015. PMID: 26387913 Free PMC article.

5

Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia-lymphedema syndrome-1.

Melber DJ, Andreasen TS, Mao R, Tvrdik T, Miller CE, Moore TR, Woelkers DA, Lamale-Smith LM. Melber DJ, et al. Among authors: mao r. Clin Case Rep. 2018 Oct 24;6(12):2358-2363. doi: 10.1002/ccr3.1804. eCollection 2018 Dec. Clin Case Rep. 2018. PMID: 30564329 Free PMC article.

6

EIF2AK4 mutations in pulmonary capillary hemangiomatosis.

Best DH, Sumner KL, Austin ED, Chung WK, Brown LM, Borczuk AC, Rosenzweig EB, Bayrak-Toydemir P, Mao R, Cahill BC, Tazelaar HD, Leslie KO, Hemnes AR, Robbins IM, Elliott CG. Best DH, et al. Among authors: mao r. Chest. 2014 Feb;145(2):231-236. doi: 10.1378/chest.13-2366. Chest. 2014. PMID: 24135949 Free PMC article.

7

α1-antitrypsin deficiency in fraternal twins born with familial spontaneous pneumothorax.

Greene DN, Procter M, Krautscheid P, Mao R, Lyon E, Grenache DG. Greene DN, et al. Among authors: mao r. Chest. 2012 Jan;141(1):239-241. doi: 10.1378/chest.11-0104. Chest. 2012. PMID: 22215832

8

Forty-eight novel mutations causing biotinidase deficiency.

Procter M, Wolf B, Mao R. Procter M, et al. Among authors: mao r. Mol Genet Metab. 2016 Mar;117(3):369-72. doi: 10.1016/j.ymgme.2016.01.002. Epub 2016 Jan 12. Mol Genet Metab. 2016. PMID: 26810761

9

Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene.

Ardon O, Procter M, Tvrdik T, Longo N, Mao R. Ardon O, et al. Among authors: mao r. Mol Genet Metab Rep. 2014 Feb 11;1:71-84. doi: 10.1016/j.ymgmr.2013.12.006. eCollection 2014. Mol Genet Metab Rep. 2014. PMID: 27896077 Free PMC article.

10

Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant.

Carlston CM, Afify ZA, Palumbos JC, Bagley H, Barbagelata C, Wooderchak-Donahue WL, Mao R, Carey JC. Carlston CM, et al. Among authors: mao r. Am J Med Genet A. 2017 Oct;173(10):2622-2627. doi: 10.1002/ajmg.a.38360. Epub 2017 Jul 25. Am J Med Genet A. 2017. PMID: 28742285

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