Mao R - Search Results

1

Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency.

Carlston CM, Ferdinandusse S, Hobert JA, Mao R, Longo N. Carlston CM, et al. Among authors: mao r. JIMD Rep. 2019;43:103-109. doi: 10.1007/8904_2018_111. Epub 2018 Jun 20. JIMD Rep. 2019. PMID: 29923089 Free PMC article.

2

Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene.

Calderon FR, Nelson L, Dobrowolski P, Sinitsyna I, Phansalkar A, Longo N, Pasquali M, Mao R. Calderon FR, et al. Among authors: mao r. J Inherit Metab Dis. 2007 Oct;30(5):818. doi: 10.1007/s10545-007-0461-x. Epub 2007 Sep 17. J Inherit Metab Dis. 2007. PMID: 17876724

3

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.

4

Creatine transporter deficiency: Novel mutations and functional studies.

Ardon O, Procter M, Mao R, Longo N, Landau YE, Shilon-Hadass A, Gabis LV, Hoffmann C, Tzadok M, Heimer G, Sada S, Ben-Zeev B, Anikster Y. Ardon O, et al. Among authors: mao r. Mol Genet Metab Rep. 2016 Jun 30;8:20-3. doi: 10.1016/j.ymgmr.2016.06.005. eCollection 2016 Sep. Mol Genet Metab Rep. 2016. PMID: 27408820 Free PMC article.

5

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.

6

Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.

Carlston CM, O'Donnell-Luria AH, Underhill HR, Cummings BB, Weisburd B, Minikel EV, Birnbaum DP; Exome Aggregation Consortium; Tvrdik T, MacArthur DG, Mao R. Carlston CM, et al. Among authors: mao r. Hum Mutat. 2017 May;38(5):517-523. doi: 10.1002/humu.23203. Epub 2017 Mar 21. Hum Mutat. 2017. PMID: 28229513 Free PMC article. Review.

7

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

8

Functional and molecular studies in primary carnitine deficiency.

Frigeni M, Balakrishnan B, Yin X, Calderon FRO, Mao R, Pasquali M, Longo N. Frigeni M, et al. Among authors: mao r. Hum Mutat. 2017 Dec;38(12):1684-1699. doi: 10.1002/humu.23315. Epub 2017 Sep 14. Hum Mutat. 2017. PMID: 28841266 Free PMC article.

9

Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss.

DeMille D, Carlston CM, Tam OH, Palumbos JC, Stalker HJ, Mao R, Zori RT, Viskochil DH, Park AH, Carey JC. DeMille D, et al. Among authors: mao r. Am J Med Genet A. 2018 Apr;176(4):945-950. doi: 10.1002/ajmg.a.38648. Am J Med Genet A. 2018. PMID: 29575629

10

Effect of genotype on galactose-1-phosphate in classic galactosemia patients.

Yuzyuk T, Balakrishnan B, Schwarz EL, De Biase I, Hobert J, Longo N, Mao R, Lai K, Pasquali M. Yuzyuk T, et al. Among authors: mao r. Mol Genet Metab. 2018 Nov;125(3):258-265. doi: 10.1016/j.ymgme.2018.08.012. Epub 2018 Aug 23. Mol Genet Metab. 2018. PMID: 30172461

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