Beggs AH - Search Results

1

Quantifying Downstream Healthcare Utilization in Studies of Genomic Testing.

Mackay ZP, Dukhovny D, Phillips KA, Beggs AH, Green RC, Parad RB, Christensen KD; BabySeq Project Team. Mackay ZP, et al. Among authors: beggs ah. Value Health. 2020 May;23(5):559-565. doi: 10.1016/j.jval.2020.01.017. Epub 2020 Mar 20. Value Health. 2020. PMID: 32389220 Free PMC article. Clinical Trial.

2

Broadbelt KG, Barger MA, Paterson DS, Holm IA, Haas EA, Krous HF, Kinney HC, Markianos K, Beggs AH. Broadbelt KG, et al. Among authors: beggs ah. Pediatr Res. 2009 Dec;66(6):631-5. doi: 10.1203/PDR.0b013e3181bd5a31. Pediatr Res. 2009. PMID: 19707175 Free PMC article.

3

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.

Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, Fairbrother WG, Granzier H, Beggs AH. Ceyhan-Birsoy O, et al. Among authors: beggs ah. Neurology. 2013 Oct 1;81(14):1205-14. doi: 10.1212/WNL.0b013e3182a6ca62. Epub 2013 Aug 23. Neurology. 2013. PMID: 23975875 Free PMC article.

4

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.

Brownstein CA, Towne MC, Luquette LJ, Harris DJ, Marinakis NS, Meinecke P, Kutsche K, Campeau PM, Yu TW, Margulies DM, Agrawal PB, Beggs AH. Brownstein CA, et al. Among authors: beggs ah. Eur J Med Genet. 2013 Dec;56(12):678-82. doi: 10.1016/j.ejmg.2013.09.009. Epub 2013 Oct 28. Eur J Med Genet. 2013. PMID: 24176758 Free PMC article.

5

A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia.

Joshi M, Eagan J, Desai NK, Newton SA, Towne MC, Marinakis NS, Esteves KM, De Ferranti S, Bennett MJ, McIntyre A, Beggs AH, Berry GT, Agrawal PB. Joshi M, et al. Among authors: beggs ah. Eur J Hum Genet. 2014 Oct;22(10):1229-32. doi: 10.1038/ejhg.2014.8. Epub 2014 Feb 19. Eur J Hum Genet. 2014. PMID: 24549054 Free PMC article.

6

Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings.

Agrawal PB, Joshi M, Marinakis NS, Schmitz-Abe K, Ciarlini PD, Sargent JC, Markianos K, De Girolami U, Chad DA, Beggs AH. Agrawal PB, et al. Among authors: beggs ah. JAMA Neurol. 2014 Nov;71(11):1413-20. doi: 10.1001/jamaneurol.2014.1432. JAMA Neurol. 2014. PMID: 25264603 Free PMC article.

7

Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.

Thaker VV, Esteves KM, Towne MC, Brownstein CA, James PM, Crowley L, Hirschhorn JN, Elsea SH, Beggs AH, Picker J, Agrawal PB. Thaker VV, et al. Among authors: beggs ah. J Clin Endocrinol Metab. 2015 May;100(5):1723-30. doi: 10.1210/jc.2014-4215. Epub 2015 Mar 17. J Clin Endocrinol Metab. 2015. PMID: 25781356 Free PMC article.

8

Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement.

Ceyhan-Birsoy O, Talim B, Swanson LC, Karakaya M, Graff MA, Beggs AH, Topaloglu H. Ceyhan-Birsoy O, et al. Among authors: beggs ah. J Neuromuscul Dis. 2015;2(1):87-92. doi: 10.3233/JND-140038. J Neuromuscul Dis. 2015. PMID: 25821721 Free PMC article.

9

Skeletal muscle microRNA and messenger RNA profiling in cofilin-2 deficient mice reveals cell cycle dysregulation hindering muscle regeneration.

Morton SU, Joshi M, Savic T, Beggs AH, Agrawal PB. Morton SU, et al. Among authors: beggs ah. PLoS One. 2015 Apr 13;10(4):e0123829. doi: 10.1371/journal.pone.0123829. eCollection 2015. PLoS One. 2015. PMID: 25874796 Free PMC article.

10

Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations.

Brownstein CA, Beggs AH, Rodan L, Shi J, Towne MC, Pelletier R, Cao S, Rosenberg PA, Urion DK, Picker J, Tan WH, Agrawal PB. Brownstein CA, et al. Among authors: beggs ah. Neurogenetics. 2016 Jan;17(1):11-6. doi: 10.1007/s10048-015-0460-2. Epub 2015 Sep 22. Neurogenetics. 2016. PMID: 26395884 Free PMC article.

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