Mao R - Search Results

1

The SPRED1 Variants Repository for Legius Syndrome.

Sumner K, Crockett DK, Muram T, Mallempati K, Best H, Mao R. Sumner K, et al. Among authors: mao r. G3 (Bethesda). 2011 Nov;1(6):451-6. doi: 10.1534/g3.111.000687. Epub 2011 Nov 1. G3 (Bethesda). 2011. PMID: 22384355 Free PMC article.

2

Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene.

Calderon FR, Phansalkar AR, Crockett DK, Miller M, Mao R. Calderon FR, et al. Among authors: mao r. Hum Mutat. 2007 Oct;28(10):939-43. doi: 10.1002/humu.20544. Hum Mutat. 2007. PMID: 17486650

3

Multiple endocrine neoplasia type 2 RET protooncogene database: repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlations.

Margraf RL, Crockett DK, Krautscheid PM, Seamons R, Calderon FR, Wittwer CT, Mao R. Margraf RL, et al. Among authors: mao r. Hum Mutat. 2009 Apr;30(4):548-56. doi: 10.1002/humu.20928. Hum Mutat. 2009. PMID: 19177457

4

A cost savings approach to SPRED1 mutational analysis in individuals at risk for neurofibromatosis type 1.

Muram TM, Stevenson DA, Watts-Justice S, Viskochil DH, Carey JC, Mao R, Jackson B. Muram TM, et al. Among authors: mao r. Am J Med Genet A. 2013 Mar;161A(3):467-72. doi: 10.1002/ajmg.a.35718. Epub 2013 Feb 7. Am J Med Genet A. 2013. PMID: 23401230

5

The Biotinidase Gene Variants Registry: A Paradigm Public Database.

Procter M, Wolf B, Crockett DK, Mao R. Procter M, et al. Among authors: mao r. G3 (Bethesda). 2013 Apr 9;3(4):727-731. doi: 10.1534/g3.113.005835. G3 (Bethesda). 2013. PMID: 23550138 Free PMC article.

6

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.

7

Implementation of a cost-effective unlabeled probe high-resolution melt assay for genotyping of Factor V Leiden.

Svensson AM, Chou LS, Meadows C, Miller CE, Palais R, Sumner K, Wayman TC, Mao R, Lyon E. Svensson AM, et al. Among authors: mao r. Genet Test Mol Biomarkers. 2011 Apr;15(4):207-13. doi: 10.1089/gtmb.2010.0137. Epub 2011 Jan 23. Genet Test Mol Biomarkers. 2011. PMID: 21254846

8

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.

9

Noncontinuously binding loop-out primers for avoiding problematic DNA sequences in PCR and sanger sequencing.

Sumner K, Swensen JJ, Procter M, Jama M, Wooderchak-Donahue W, Lewis T, Fong M, Hubley L, Schwarz M, Ha Y, Paul E, Brulotte B, Lyon E, Bayrak-Toydemir P, Mao R, Pont-Kingdon G, Best DH. Sumner K, et al. Among authors: mao r. J Mol Diagn. 2014 Sep;16(5):477-480. doi: 10.1016/j.jmoldx.2014.04.005. Epub 2014 Jul 9. J Mol Diagn. 2014. PMID: 25017792 Free article.

10

A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies.

Viollet LM, Swoboda KJ, Mao R, Best H, Ha Y, Toutain A, Guyant-Marechal L, Laroche-Raynaud C, Ghorab K, Barthez MA, Pedespan JM, Hernandorena X, Lia AS, Deleuze JF, Masson C, Nelson I, Nectoux J, Si Y. Viollet LM, et al. Among authors: mao r. Eur J Med Genet. 2020 Dec;63(12):104063. doi: 10.1016/j.ejmg.2020.104063. Epub 2020 Sep 16. Eur J Med Genet. 2020. PMID: 32947049

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