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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.
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.
Utilization of Whole-Exome Next-Generation Sequencing Variant Read Frequency for Detection of Lesion-Specific, Somatic Loss of Heterozygosity in a Neurofibromatosis Type 1 Cohort with Tibial Pseudarthrosis.
Margraf RL, VanSant-Webb C, Sant D, Carey J, Hanson H, D'Astous J, Viskochil D, Stevenson DA, Mao R. Margraf RL, et al. Among authors: mao r. J Mol Diagn. 2017 May;19(3):468-474. doi: 10.1016/j.jmoldx.2017.01.008. J Mol Diagn. 2017. PMID: 28433079 Free PMC article.
A rapid gene sequencing panel strategy to facilitate precision neonatal medicine.
Brunelli L, Mao R, Jenkins SM, Bleyl SB, Dames SA, Miller CE, Ostrander B, Tvrdik T, Andrews S, Flores J, Patel S, Gudgeon JM, Schaefer S. Brunelli L, et al. Among authors: mao r. Am J Med Genet A. 2017 Jul;173(7):1979-1982. doi: 10.1002/ajmg.a.38259. Epub 2017 May 12. Am J Med Genet A. 2017. PMID: 28497657 No abstract available.
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.
Zastrow DB, Baudet H, Shen W, Thomas A, Si Y, Weaver MA, Lager AM, Liu J, Mangels R, Dwight SS, Wright MW, Dobrowolski SF, Eilbeck K, Enns GM, Feigenbaum A, Lichter-Konecki U, Lyon E, Pasquali M, Watson M, Blau N, Steiner RD, Craigen WJ, Mao R; ClinGen Inborn Errors of Metabolism Working Group. Zastrow DB, et al. Among authors: mao r. Hum Mutat. 2018 Nov;39(11):1569-1580. doi: 10.1002/humu.23649. Hum Mutat. 2018. PMID: 30311390 Free PMC article.
1,628 results