Elucidation of bioinformatic-guided high-prospect drug repositioning candidates for DMD via Swanson linking of target-focused latent knowledge from text-mined categorical metadata by J. Wes Ulm, Florian Barthélémy, Florian Barthélémy, Stanley F. Nelson, Stanley F. Nelson, Stanley F. Nelson, Stanley F. Nelson

Get full text

MPEG1/Perforin-2 Haploinsufficiency Associated Polymicrobial Skin Infections and Considerations for Interferon-γ Therapy by Leidy C. Merselis, Shirley Y. Jiang, Stanley F. Nelson, Stanley F. Nelson, Stanley F. Nelson, Hane Lee, Hane Lee, Kavitha K. Prabaker, Jennifer L. Baker, George P. Munson, Manish J. Butte, Manish J. Butte, Manish J. Butte

Get full text

Modeling Patient-Specific Muscular Dystrophy Phenotypes and Therapeutic Responses in Reprogrammed Myotubes Engineered on Micromolded Gelatin Hydrogels by Florian Barthélémy, Florian Barthélémy, Jeffrey W. Santoso, Laura Rabichow, Laura Rabichow, Rongcheng Jin, Isaiah Little, Isaiah Little, Stanley F. Nelson, Stanley F. Nelson, Stanley F. Nelson, Megan L. McCain, Megan L. McCain, M. Carrie Miceli, M. Carrie Miceli

Get full text

Transcriptomic analysis of paired healthy human skeletal muscles to identify modulators of disease severity in DMD by Shirley Nieves-Rodriguez, Shirley Nieves-Rodriguez, Florian Barthélémy, Florian Barthélémy, Jeremy D. Woods, Emilie D. Douine, Emilie D. Douine, Richard T. Wang, Richard T. Wang, Deirdre D. Scripture-Adams, Deirdre D. Scripture-Adams, Kevin N. Chesmore, Kevin N. Chesmore, Francesca Galasso, M. Carrie Miceli, M. Carrie Miceli, Stanley F. Nelson, Stanley F. Nelson, Stanley F. Nelson, Stanley F. Nelson

Get full text

Case Report: Whole Exome Sequencing Identifies Compound Heterozygous Variants in TSFM Gene Causing Juvenile Hypertrophic Cardiomyopathy by Jamie O. Yang, Hapet Shaybekyan, Hapet Shaybekyan, Yan Zhao, Yan Zhao, Xuedong Kang, Xuedong Kang, Gregory A. Fishbein, Negar Khanlou, Juan C. Alejos, Nancy Halnon, Gary Satou, Reshma Biniwale, Hane Lee, Hane Lee, Glen Van Arsdell, Stanley F. Nelson, Stanley F. Nelson, Stanley F. Nelson, Stanley F. Nelson, Marlin Touma, Marlin Touma, Marlin Touma, Marlin Touma, Marlin Touma, Marlin Touma, Marlin Touma, the UCLA Clinical Genomics Center, the UCLA Congenital Heart Defects-BioCore Faculty

Get full text

FXR regulates organic solute transporters α and β in the adrenal gland, kidney, and intestine by Hans Lee, Yanqiao Zhang, Florence Y. Lee, Stanley F. Nelson, Frank J. Gonzalez, Peter A. Edwards

Get full text

Genetic characterization and long-term management of severely affected siblings with intellectual developmental disorder with cardiac arrhythmia syndrome by Shahram Yazdani, Anish Badjatiya, Naghmeh Dorrani, Hane Lee, Wayne W. Grody, Stanley F. Nelson, Katrina M. Dipple

Get full text

Targeting RyR Activity Boosts Antisense Exon 44 and 45 Skipping in Human DMD Skeletal or Cardiac Muscle Culture Models by Florian Barthélémy, Richard T. Wang, Christopher Hsu, Emilie D. Douine, Eugene E. Marcantonio, Stanley F. Nelson, M. Carrie Miceli

Get full text

Rare genomic variants link bipolar disorder to CREB regulated intracellular signaling pathways by Berit eKerner, Aliz Raksi Rao, Bryce eChristensen, Sugandha eDandekar, Michael eYourshaw, Stanley F. Nelson

Get full text

Correction: U87MG Decoded: The Genomic Sequence of a Cytogenetically Aberrant Human Cancer Cell Line. by Michael James Clark, Nils Homer, Brian D O'Connor, Zugen Chen, Ascia Eskin, Hane Lee, Barry Merriman, Stanley F Nelson

Get full text

Phenotype sequencing: identifying the genes that cause a phenotype directly from pooled sequencing of independent mutants. by Marc A Harper, Zugen Chen, Traci Toy, Iara M P Machado, Stanley F Nelson, James C Liao, Christopher J Lee

Get full text

A Path to Implement Precision Child Health Cardiovascular Medicine by Marlin Touma, Marlin Touma, Brian Reemtsen, Nancy Halnon, Juan Alejos, J. Paul Finn, Stanley F. Nelson, Yibin Wang, Yibin Wang

Get full text

Functional consequences of a novel variant of PCSK1. by Lindsay A Pickett, Michael Yourshaw, Valeria Albornoz, Zijun Chen, R Sergio Solorzano-Vargas, Stanley F Nelson, Martín G Martín, Iris Lindberg

Get full text

Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays. by Nils Homer, Szabolcs Szelinger, Margot Redman, David Duggan, Waibhav Tembe, Jill Muehling, John V Pearson, Dietrich A Stephan, Stanley F Nelson, David W Craig

Get full text

Repurposing Dantrolene for Long-Term Combination Therapy to Potentiate Antisense-Mediated DMD Exon Skipping in the mdx Mouse by Derek W. Wang, Ekaterina I. Mokhonova, Genevieve C. Kendall, Diana Becerra, Yalda B. Naeini, Rita M. Cantor, Melissa J. Spencer, Stanley F. Nelson, M. Carrie Miceli

Get full text

Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis by Hayk Barseghyan, Wilson Tang, Richard T. Wang, Miguel Almalvez, Eva Segura, Matthew S. Bramble, Allen Lipson, Emilie D. Douine, Hane Lee, Emmanuèle C. Délot, Stanley F. Nelson, Eric Vilain

Get full text

RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis by Samantha Wong, Yu Xuan Tan, Abigail Yi Ting Loh, Kiat Yi Tan, Hane Lee, Zainab Aziz, Stanley F Nelson, Engin Özkan, Hülya Kayserili, Nathalie Escande‐Beillard, Bruno Reversade

Get full text

Quantitative immuno-mass spectrometry imaging of skeletal muscle dystrophin by David P. Bishop, Mika T. Westerhausen, Florian Barthelemy, Thomas Lockwood, Nerida Cole, Elizabeth M. Gibbs, Rachelle H. Crosbie, Stanley F. Nelson, M. Carrie Miceli, Philip A. Doble, Jonathan Wanagat

Get full text

Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y POS mouse model by Hayk Barseghyan, Aleisha Symon, Mariam Zadikyan, Miguel Almalvez, Eva E. Segura, Ascia Eskin, Matthew S. Bramble, Valerie A. Arboleda, Ruth Baxter, Stanley F. Nelson, Emmanuèle C. Délot, Vincent Harley, Eric Vilain

Get full text

Single nuclei transcriptomics of muscle reveals intra-muscular cell dynamics linked to dystrophin loss and rescue by Deirdre D. Scripture-Adams, Kevin N. Chesmore, Florian Barthélémy, Richard T. Wang, Shirley Nieves-Rodriguez, Derek W. Wang, Ekaterina I. Mokhonova, Emilie D. Douine, Jijun Wan, Isaiah Little, Laura N. Rabichow, Stanley F. Nelson, M. Carrie Miceli

Get full text