Wang RT - Search Results

1

Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.

Lee H, Huang AY, Wang LK, Yoon AJ, Renteria G, Eskin A, Signer RH, Dorrani N, Nieves-Rodriguez S, Wan J, Douine ED, Woods JD, Dell'Angelica EC, Fogel BL, Martin MG, Butte MJ, Parker NH, Wang RT, Shieh PB, Wong DA, Gallant N, Singh KE, Tavyev Asher YJ, Sinsheimer JS, Krakow D, Loo SK, Allard P, Papp JC; Undiagnosed Diseases Network; Palmer CGS, Martinez-Agosto JA, Nelson SF. Lee H, et al. Among authors: wang lk, wang rt. Genet Med. 2020 Mar;22(3):490-499. doi: 10.1038/s41436-019-0672-1. Epub 2019 Oct 14. Genet Med. 2020. PMID: 31607746 Free PMC article.

2

Dantrolene enhances antisense-mediated exon skipping in human and mouse models of Duchenne muscular dystrophy.

Kendall GC, Mokhonova EI, Moran M, Sejbuk NE, Wang DW, Silva O, Wang RT, Martinez L, Lu QL, Damoiseaux R, Spencer MJ, Nelson SF, Miceli MC. Kendall GC, et al. Among authors: wang rt, wang dw. Sci Transl Med. 2012 Dec 12;4(164):164ra160. doi: 10.1126/scitranslmed.3005054. Sci Transl Med. 2012. PMID: 23241744

3

Online self-report data for duchenne muscular dystrophy confirms natural history and can be used to assess for therapeutic benefits.

Wang RT, Silverstein Fadlon CA, Ulm JW, Jankovic I, Eskin A, Lu A, Rangel Miller V, Cantor RM, Li N, Elashoff R, Martin AS, Peay HL, Halnon N, Nelson SF. Wang RT, et al. PLoS Curr. 2014 Oct 17;6:ecurrents.md.e1e8f2be7c949f9ffe81ec6fca1cce6a. doi: 10.1371/currents.md.e1e8f2be7c949f9ffe81ec6fca1cce6a. PLoS Curr. 2014. PMID: 25635234 Free PMC article.

4

What can Duchenne Connect teach us about treating Duchenne muscular dystrophy?

Wang RT, Nelson SF. Wang RT, et al. Curr Opin Neurol. 2015 Oct;28(5):535-41. doi: 10.1097/WCO.0000000000000245. Curr Opin Neurol. 2015. PMID: 26356412 Free PMC article. Review.

5

Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis.

Barseghyan H, Tang W, Wang RT, Almalvez M, Segura E, Bramble MS, Lipson A, Douine ED, Lee H, Délot EC, Nelson SF, Vilain E. Barseghyan H, et al. Among authors: wang rt. Genome Med. 2017 Oct 25;9(1):90. doi: 10.1186/s13073-017-0479-0. Genome Med. 2017. PMID: 29070057 Free PMC article.

6

DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype.

Wang RT, Barthelemy F, Martin AS, Douine ED, Eskin A, Lucas A, Lavigne J, Peay H, Khanlou N, Sweeney L, Cantor RM, Miceli MC, Nelson SF. Wang RT, et al. Hum Mutat. 2018 Sep;39(9):1193-1202. doi: 10.1002/humu.23561. Epub 2018 Jul 12. Hum Mutat. 2018. PMID: 29907980 Free PMC article.

7

Targeting RyR Activity Boosts Antisense Exon 44 and 45 Skipping in Human DMD Skeletal or Cardiac Muscle Culture Models.

Barthélémy F, Wang RT, Hsu C, Douine ED, Marcantonio EE, Nelson SF, Miceli MC. Barthélémy F, et al. Among authors: wang rt. Mol Ther Nucleic Acids. 2019 Dec 6;18:580-589. doi: 10.1016/j.omtn.2019.09.020. Epub 2019 Sep 28. Mol Ther Nucleic Acids. 2019. PMID: 31678734 Free PMC article.

8

A well-tolerated core needle muscle biopsy process suitable for children and adults.

Barthelemy F, Woods JD, Nieves-Rodriguez S, Douine ED, Wang R, Wanagat J, Miceli MC, Nelson SF. Barthelemy F, et al. Muscle Nerve. 2020 Dec;62(6):688-698. doi: 10.1002/mus.27041. Epub 2020 Sep 20. Muscle Nerve. 2020. PMID: 32820569 Free PMC article.

9

Single nuclei transcriptomics of muscle reveals intra-muscular cell dynamics linked to dystrophin loss and rescue.

Scripture-Adams DD, Chesmore KN, Barthélémy F, Wang RT, Nieves-Rodriguez S, Wang DW, Mokhonova EI, Douine ED, Wan J, Little I, Rabichow LN, Nelson SF, Miceli MC. Scripture-Adams DD, et al. Among authors: wang rt, wang dw. Commun Biol. 2022 Sep 19;5(1):989. doi: 10.1038/s42003-022-03938-0. Commun Biol. 2022. PMID: 36123393 Free PMC article.

10

Transcriptomic analysis of paired healthy human skeletal muscles to identify modulators of disease severity in DMD.

Nieves-Rodriguez S, Barthélémy F, Woods JD, Douine ED, Wang RT, Scripture-Adams DD, Chesmore KN, Galasso F, Miceli MC, Nelson SF. Nieves-Rodriguez S, et al. Among authors: wang rt. Front Genet. 2023 Jul 27;14:1216066. doi: 10.3389/fgene.2023.1216066. eCollection 2023. Front Genet. 2023. PMID: 37576554 Free PMC article.

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