Agrawal PB - Search Results

1

Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.

Morton SU, Christodoulou J, Costain G, Muntoni F, Wakeling E, Wojcik MH, French CE, Szuto A, Dowling JJ, Cohn RD, Raymond FL, Darras BT, Williams DA, Lunke S, Stark Z, Rowitch DH, Agrawal PB. Morton SU, et al. Among authors: agrawal pb. JAMA Neurol. 2022 Apr 1;79(4):405-413. doi: 10.1001/jamaneurol.2022.0067. JAMA Neurol. 2022. PMID: 35254387 Free PMC article. Review.

2

Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2.

Agrawal PB, Greenleaf RS, Tomczak KK, Lehtokari VL, Wallgren-Pettersson C, Wallefeld W, Laing NG, Darras BT, Maciver SK, Dormitzer PR, Beggs AH. Agrawal PB, et al. Am J Hum Genet. 2007 Jan;80(1):162-7. doi: 10.1086/510402. Epub 2006 Nov 14. Am J Hum Genet. 2007. PMID: 17160903 Free PMC article.

3

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. JAMA Neurol. 2014 Nov;71(11):1413-20. doi: 10.1001/jamaneurol.2014.1432. JAMA Neurol. 2014. PMID: 25264603 Free PMC article.

4

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: agrawal pb. PLoS One. 2015 Apr 13;10(4):e0123829. doi: 10.1371/journal.pone.0123829. eCollection 2015. PLoS One. 2015. PMID: 25874796 Free PMC article.

5

Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

Mehta P, Küspert M, Bale T, Brownstein CA, Towne MC, De Girolami U, Shi J, Beggs AH, Darras BT, Wegner M, Piao X, Agrawal PB. Mehta P, et al. Among authors: agrawal pb. Muscle Nerve. 2017 May;55(5):761-765. doi: 10.1002/mus.25416. Epub 2017 Feb 3. Muscle Nerve. 2017. PMID: 27668699 Free PMC article.

6

Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants.

Morton SU, Neilan EG, Peake RWA, Shi J, Schmitz-Abe K, Towne M, Markianos K, Prabhu SP, Agrawal PB. Morton SU, et al. Among authors: agrawal pb. JIMD Rep. 2017;35:7-15. doi: 10.1007/8904_2016_17. Epub 2016 Nov 18. JIMD Rep. 2017. PMID: 27858371 Free PMC article.

7

A curated gene list for reporting results of newborn genomic sequencing.

Ceyhan-Birsoy O, Machini K, Lebo MS, Yu TW, Agrawal PB, Parad RB, Holm IA, McGuire A, Green RC, Beggs AH, Rehm HL. Ceyhan-Birsoy O, et al. Among authors: agrawal pb. Genet Med. 2017 Jul;19(7):809-818. doi: 10.1038/gim.2016.193. Epub 2017 Jan 12. Genet Med. 2017. PMID: 28079900 Free PMC article.

8

Newborn Sequencing in Genomic Medicine and Public Health.

Berg JS, Agrawal PB, Bailey DB Jr, Beggs AH, Brenner SE, Brower AM, Cakici JA, Ceyhan-Birsoy O, Chan K, Chen F, Currier RJ, Dukhovny D, Green RC, Harris-Wai J, Holm IA, Iglesias B, Joseph G, Kingsmore SF, Koenig BA, Kwok PY, Lantos J, Leeder SJ, Lewis MA, McGuire AL, Milko LV, Mooney SD, Parad RB, Pereira S, Petrikin J, Powell BC, Powell CM, Puck JM, Rehm HL, Risch N, Roche M, Shieh JT, Veeraraghavan N, Watson MS, Willig L, Yu TW, Urv T, Wise AL. Berg JS, et al. Among authors: agrawal pb. Pediatrics. 2017 Feb;139(2):e20162252. doi: 10.1542/peds.2016-2252. Epub 2017 Jan 17. Pediatrics. 2017. PMID: 28096516 Free PMC article. Clinical Trial.

9

AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant.

Morton SU, Prabhu SP, Lidov HGW, Shi J, Anselm I, Brownstein CA, Bainbridge MN, Beggs AH, Vargas SO, Agrawal PB. Morton SU, et al. Among authors: agrawal pb. Cold Spring Harb Mol Case Stud. 2017 Mar;3(2):a001560. doi: 10.1101/mcs.a001560. Cold Spring Harb Mol Case Stud. 2017. PMID: 28299359 Free PMC article.

10

Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals.

Wojcik MH, Wierenga KJ, Rodan LH, Sahai I, Ferdinandusse S, Genetti CA, Towne MC, Peake RWA, James PM, Beggs AH, Brownstein CA, Berry GT, Agrawal PB. Wojcik MH, et al. Among authors: agrawal pb. JIMD Rep. 2018;39:45-54. doi: 10.1007/8904_2017_45. Epub 2017 Jul 20. JIMD Rep. 2018. PMID: 28726122 Free PMC article.

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