P. Uapinyoying

发表

The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell Resolution.

Larry N. Singh, Timothy L. Tickle, Noor B. Dawany, 2019, Developmental cell.

Developmental Cell Perspective The Pediatric Cell Atlas : Defining the Growth Phase of Human Development at Single-Cell Resolution

Timothy L. Tickle, Deanne M. Taylor, Jo Lynne Rokita, 2022 .

Gene delivery corrects N-acetylglutamate synthase deficiency and enables insights in the physiological impact of L-arginine activation of N-acetylglutamate synthase

H. Morizono, M. Tuchman, L. Caldovic, 2021, Scientific Reports.

Impaired ureagenesis due to arginine-insensitive N-acetylglutamate synthase

H. Morizono, M. Tuchman, L. Caldovic, 2018, bioRxiv.

Interactive analysis of Long-read RNA isoforms with Iso-Seq Browser

J. Goecks, P. Uapinyoying, Jingyuan Hu, 2017, bioRxiv.

A long-read RNA-seq approach to identify novel transcripts of very large genes

E. Hoffman, J. Goecks, J. Jaiswal, 2020, Genome research.

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

E. Hoffman, M. Tarnopolsky, S. Sandaradura, 2016, Journal of neuromuscular diseases.

Transcriptome analysis of collagen VI‐related muscular dystrophy muscle biopsies

M. Cookson, C. Bönnemann, M. Santi, 2021, Annals of clinical and translational neurology.

A selective thyroid hormone β receptor agonist enhances human and rodent oligodendrocyte differentiation

P. Calabresi, D. Bergles, C. Pardo-Villamizar, 2014, Glia.

BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy

Beryl B. Cummings, C. Bönnemann, M. Schwake, 2021, EMBO molecular medicine.

A recurrent homozygous missense DPM3 variant leads to muscle and brain disease

H. Freeze, V. Dissanayake, M. Schmidts, 2022, Clinical genetics.

Toll/Interleukin-1 Receptor Domain-Containing Adapter Inducing Interferon-β Mediates Microglial Phagocytosis of Degenerating Axons

Labchan Rajbhandari, A. Venkatesan, N. Thakor, 2012, The Journal of Neuroscience.

Human muscle stem cells are refractory to aging

E. Hoffman, B. Harris, T. Partridge, 2020, bioRxiv.

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

Beryl B. Cummings, Carol J. Saunders, C. Saunders, 2019, Acta Neuropathologica.

A new long-read RNA-seq analysis approach identifies and quantifies novel transcripts of very large genes

E. Hoffman, J. Goecks, J. Jaiswal, 2020, bioRxiv.

Pathogenic role and therapeutic potential of fibro-adipogenic progenitors in muscle disease.

J. Jaiswal, D. Mazala, P. Uapinyoying, 2021, Trends in molecular medicine.

Single-cell transcriptomic analysis of the identity and function of fibro/adipogenic progenitors in healthy and dystrophic muscle

J. Jaiswal, C. Bönnemann, D. Mazala, 2023, iScience.

The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell Resolution.

Larry N. Singh, Timothy L. Tickle, Noor B. Dawany, 2019, Developmental cell.