Mao R - Search Results

1

Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome.

Reynolds HM, Wen T, Farrell A, Mao R, Moore B, Boyden SE, Bayrak-Toydemir P, Nicholas TJ, Rynearson S, Holt C, Miller C, Noble K, Bentley D, Palmquist R, Ostrander B, Manberg S, Bonkowsky JL, Shayota BJ, Jenkins SM. Reynolds HM, et al. Among authors: mao r. Cold Spring Harb Mol Case Stud. 2022 Dec 28;8(7):a006242. doi: 10.1101/mcs.a006242. Print 2022 Dec. Cold Spring Harb Mol Case Stud. 2022. PMID: 36379720 Free PMC article.

2

Prenatal diagnosis of 21-hydroxylase deficiency caused by gene conversion and rearrangements: pitfalls and molecular diagnostic solutions.

Mao R, Nelson L, Kates R, Miller CE, Donaldson DL, Tang W, Ward K. Mao R, et al. Prenat Diagn. 2002 Dec;22(13):1171-6. doi: 10.1002/pd.467. Prenat Diagn. 2002. PMID: 12478627

3

Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians.

Bayrak-Toydemir P, Mao R, Lewin S, McDonald J. Bayrak-Toydemir P, et al. Among authors: mao r. Genet Med. 2004 Jul-Aug;6(4):175-91. doi: 10.1097/01.gim.0000132689.25644.7c. Genet Med. 2004. PMID: 15266205 Free article. Review.

4

4p terminal deletion and 11p subtelomeric duplication detected by genomic microarray in a patient with Wolf-Hirschhorn syndrome and an atypical phenotype.

Stevenson DA, Carey JC, Cowley BC, Bayrak-Toydemir P, Mao R, Brothman AR. Stevenson DA, et al. Among authors: mao r. J Pediatr. 2004 Dec;145(6):840-2. doi: 10.1016/j.jpeds.2004.08.027. J Pediatr. 2004. PMID: 15580214

5

Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations.

Bayrak-Toydemir P, McDonald J, Markewitz B, Lewin S, Miller F, Chou LS, Gedge F, Tang W, Coon H, Mao R. Bayrak-Toydemir P, et al. Among authors: mao r. Am J Med Genet A. 2006 Mar 1;140(5):463-70. doi: 10.1002/ajmg.a.31101. Am J Med Genet A. 2006. PMID: 16470787

6

A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7.

Bayrak-Toydemir P, McDonald J, Akarsu N, Toydemir RM, Calderon F, Tuncali T, Tang W, Miller F, Mao R. Bayrak-Toydemir P, et al. Among authors: mao r. Am J Med Genet A. 2006 Oct 15;140(20):2155-62. doi: 10.1002/ajmg.a.31450. Am J Med Genet A. 2006. PMID: 16969873

7

Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations.

Gedge F, McDonald J, Phansalkar A, Chou LS, Calderon F, Mao R, Lyon E, Bayrak-Toydemir P. Gedge F, et al. Among authors: mao r. J Mol Diagn. 2007 Apr;9(2):258-65. doi: 10.2353/jmoldx.2007.060117. J Mol Diagn. 2007. PMID: 17384219 Free PMC article.

8

Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: hereditary hemorrhagic telangiectasia as a model.

Bayrak-Toydemir P, McDonald J, Mao R, Phansalkar A, Gedge F, Robles J, Goldgar D, Lyon E. Bayrak-Toydemir P, et al. Among authors: mao r. Exp Mol Pathol. 2008 Aug;85(1):45-9. doi: 10.1016/j.yexmp.2008.03.006. Epub 2008 Apr 8. Exp Mol Pathol. 2008. PMID: 18495117

9

Detection of large rearrangements in the cystic fibrosis transmembrane conductance regulator gene by multiplex ligation-dependent probe amplification assay when sequencing fails to detect two disease-causing mutations.

Svensson AM, Chou LS, Miller CE, Robles JA, Swensen JJ, Voelkerding KV, Mao R, Lyon E. Svensson AM, et al. Among authors: mao r. Genet Test Mol Biomarkers. 2010 Apr;14(2):171-4. doi: 10.1089/gtmb.2009.0099. Genet Test Mol Biomarkers. 2010. PMID: 20059381

10

Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.

Vaughn CP, Robles J, Swensen JJ, Miller CE, Lyon E, Mao R, Bayrak-Toydemir P, Samowitz WS. Vaughn CP, et al. Among authors: mao r. Hum Mutat. 2010 May;31(5):588-93. doi: 10.1002/humu.21230. Hum Mutat. 2010. PMID: 20205264

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