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Submissions from 2019

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Guide RNAs with embedded barcodes boost CRISPR-pooled screens., Shiyou Zhu, Zhongzheng Cao, Zhiheng Liu, Yuan He, Yinan Wang, Pengfei Yuan, Wei Li, Feng Tian, Ying Bao, and Wensheng Wei

Submissions from 2018

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Molecular and functional analysis of anchorage independent, treatment-evasive neuroblastoma tumorspheres with enhanced malignant properties: A possible explanation for radio-therapy resistance, Tamara Abou-Antoun, Javad Nazarian, Anthony Ghanem, Stanislav Vukmanovic, and Anthony D. Sandler

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Shorter Phosphorodiamidate Morpholino Splice-Switching Oligonucleotides May Increase Exon-Skipping Efficacy in DMD., Ugur Akpulat, Haicui Wang, Kerstin Becker, Adriana Contreras, Terence A Partridge, James S Novak, and Sebahattin Cirak

Enabling Precision Medicine via Standard Communication of HTS Provenance, Analysis, and Results., Gil Alterovitz, Dennis Dean, Carole Goble, Michael R Crusoe, Stian Soiland-Reyes, Amanda Bell, Anais Hayes, Anita Suresh, Anjan Purkayastha, Charles H King, Dan Taylor, Elaine Johanson, Elaine E Thompson, Eric Donaldson, Hiroki Morizono, Hsinyi Tsang, Jeet K Vora, Jeremy Goecks, Jianchao Yao, Jonas S Almeida, Jonathon Keeney, KanakaDurga Addepalli, Konstantinos Krampis, Krista M Smith, Lydia Guo, Mark Walderhaug, Marco Schito, Matthew Ezewudo, Nuria Guimera, Paul Walsh, Robel Kahsay, Srikanth Gottipati, Timothy C Rodwell, Toby Bloom, Yuching Lai, Vahan Simonyan, and Raja Mazumder

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Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y, 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, and Eric Vilain

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Improved Design and Analysis of CRISPR Knockout Screens., Chen-Hao Chen, Tengfei Xiao, Han Xu, Peng Jiang, Clifford A Meyer, Wei Li, Myles Brown, and X Shirley Liu

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Muscle miRNAome shows suppression of chronic inflammatory miRNAs with both prednisone and vamorolone, Alyson Fiorillo, CB Tully, JM Damsker, K Nagaraju, EP Hoffman, and Christopher Heier

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A genetic link between gender dysphoria and sex hormone signalling., Madeleine Foreman, Lauren Hare, Kate York, Kara Balakrishnan, Francisco J Sánchez, Fintan Harte, Jaco Erasmus, Eric Vilain, and Vincent R Harley

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"Of Mice and Measures": A Project to Improve How We Advance Duchenne Muscular Dystrophy Therapies to the Clinic., Heather Gordish-Dressman, Raffaella Willmann, Laura Dalle Pazze, Arati Kreibich, Maaike van Putten, Ahlke Heydemann, Laurent Bogdanik, Cathleen Lutz, Kay Davies, Alexis R Demonbruen, Dongsheng Duan, David Elsey, So-Ichiro Fukada, Mahasweta Girgenrath, J Patrick Gonzalez, Miranda D Grounds, Andy Nichols, Terry Partridge, Marco Passini, Francesca Sanarica, Frederick J Schnell, Dominic J Wells, Toshifumi Yokota, Courtney S Young, Zhong Zhong, Christopher Spurney, Melissa Spencer, Annamaria De Luca, Kanneboyina Nagaraju, and Annemieke Aartsma-Rus

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STAT3 in Skeletal Muscle Function and Disorders., Eleonora Guadagnin, Davi Mázala, and Yi-Wen Chen

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Phase 1 trial of vamorolone, a first-in-class steroid, shows improvements in side effects via biomarkers bridged to clinical outcomes., Eric P Hoffman, Valerie Riddle, Maxime A Siegler, Daniel Dickerson, Miroslav Backonja, William G Kramer, Kanneboyina Nagaraju, Heather Gordish-Dressman, Jesse M Damsker, and John M McCall

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Clinical, radiologic, pathologic, and molecular characteristics of long-term survivors of Diffuse Intrinsic Pontine Glioma (DIPG): A collaborative report from the International and European Society for Pediatric Oncology DIPG registries(, L Hoffman, S Van Zanten, N Colditz, J Baugh, B Chaney, Roger J. Packer, Javad Nazarian, and +several additional authors

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Cellular mechanisms and signals that coordinate plasma membrane repair., Adam Horn and Jyoti K Jaiswal

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microRNA biomarkers in colorectal cancer liver metastasis., Shulin Huang, Xiaohui Tan, Zhongcheng Huang, Zihua Chen, Paul Lin, and Sidney W Fu

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Pediatric cochlear implantation: Variation in income, race, payer, and charges across five states., Zhen Huang, Heather Gordish-Dressman, Diego Preciado, and Brian K Reilly

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Synthesis, Characterization, and Function of an RNA-Based Transfection Reagent., Harsh V Jain, Jessica F Boehler, Kanneboyina Nagaraju, and Serge L Beaucage

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Structural renal abnormalities in the DICER1 syndrome: a family-based cohort study., Nicholas E Khan, Alexander Ling, Molly E Raske, Laura A Harney, Ann G Carr, Amanda Field, Anne K Harris, Gretchen M Williams, Louis P Dehner, Yoav H Messinger, D Ashley Hill, Kris Ann P Schultz, and Douglas R Stewart

Efficacy of Multi-exon Skipping Treatment in Duchenne Muscular Dystrophy Dog Model Neonates., Kenji Rowel Q Lim, Yusuke Echigoya, Tetsuya Nagata, Mutsuki Kuraoka, Masanori Kobayashi, Yoshitsugu Aoki, Terence Partridge, Rika Maruyama, Shin'ichi Takeda, and Toshifumi Yokota

Expression of macrophage genes within skeletal muscle correlates inversely with adiposity and insulin resistance in humans., Dongmei Liu, Flor Elisa Morales, Heidi B IglayReger, Mary K Treutelaar, Amy E Rothberg, Monica J Hubal, Evan P Nadler, Jacques Robidoux, Hisham Barakat, Jeffrey F Horowitz, Eric P Hoffman, Charles F Burant, and Paul M Gordon

A Pediatric Review of Facioscapulohumeral Muscular Dystrophy., Jean K Mah and Yi-Wen Chen

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Longitudinal pulmonary function testing outcome measures in Duchenne muscular dystrophy: Long-term natural history with and without glucocorticoids., Craig M McDonald, Heather Gordish-Dressman, Erik K Henricson, Tina Duong, Nanette C Joyce, Sanjay Jhawar, Mika Leinonen, Fengming Hsu, Anne M Connolly, Avital Cnaan, and Richard T Abresch

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Clinical Definition of Respiratory Viral Infections in Young Children and Potential Bronchiolitis Misclassification., Rosemary Megalaa, Geovanny F Perez, Sasikumar Kilaikode-Cheruveettara, Nidhi Kotwal, Carlos E Rodriguez-Martinez, and Gustavo Nino

Author Correction: Myoblasts and macrophages are required for therapeutic morpholino antisense oligonucleotide delivery to dystrophic muscle., James S Novak, Marshall W Hogarth, Jessica F Boehler, Marie Nearing, Maria C Vila, Raul Heredia, Alyson A Fiorillo, Aiping Zhang, Yetrib Hathout, Eric P Hoffman, Jyoti K Jaiswal, Kanneboyina Nagaraju, Sebahattin Cirak, and Terence A Partridge

The Macrophage as a Trojan Horse for Antisense Oligonucleotide Delivery., James S Novak, Jyoti K Jaiswal, and Terence A Partridge

Proteomic analysis of Medulloblastoma reveals functional biology with translational potential., Samuel Rivero-Hinojosa, Ling San Lau, Mojca Stampar, Jerome Staal, Huizhen Zhang, Heather Gordish-Dressman, Paul A Northcott, Stefan M Pfister, Michael D Taylor, Kristy J Brown, and Brian R Rood

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REST upregulates gremlin to modulate diffuse intrinsic pontine glioma vasculature, Shavali Shaik, Bridget Kennis, Shinji Maegawa, Keri Schadler, Yang Yanwen, Javad Nazarian, and +several additional authors

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Sources and Fates of Carbamyl Phosphate: A Labile Energy-Rich Molecule with Multiple Facets., Dashuang Shi, Ljubica Caldovic, and Mendel Tuchman

Triazole-linked transition state analogs as selective inhibitors against V. cholerae sialidase., Teri J Slack, Wanqing Li, Dashuang Shi, John B McArthur, Gengxiang Zhao, Yanhong Li, An Xiao, Zahra Khedri, Hai Yu, Yang Liu, and Xi Chen

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Membrane Stabilization by Modified Steroid Offers a Potential Therapy for Muscular Dystrophy Due to Dysferlin Deficit., Sen Chandra Sreetama, Goutam Chandra, Jack H Van der Meulen, Mohammad Mahad Ahmad, Peter Suzuki, Shivaprasad Bhuvanendran, Kanneboyina Nagaraju, Eric P Hoffman, and Jyoti K Jaiswal

Does Patient-Centered Care Change Genital Surgery Decisions? The Strategic Use of Clinical Uncertainty in Disorders of Sex Development Clinics., Stefan Timmermans, Ashelee Yang, Melissa Gardner, Catherine E Keegan, Beverly M Yashar, Patricia Y Fechner, Margarett Shnorhavorian, Eric Vilain, Laura A Siminoff, and David E Sandberg

N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region., Monique Williams, Alberto Burlina, Laura Rubert, Giulia Polo, George J G Ruijter, Myrthe van den Born, Véronique Rüfenacht, Nantaporn Haskins, Laura J C M van Zutven, Mendel Tuchman, Jasper J Saris, Johannes Häberle, and Ljubica Caldovic

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Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy., Tengfei Xiao, Wei Li, Xiaoqing Wang, Han Xu, Jixin Yang, Qiu Wu, Ying Huang, Joseph Geradts, Peng Jiang, Teng Fei, David Chi, Chongzhi Zang, Qi Liao, Jonathan Rennhack, Eran Andrechek, Nanlin Li, Simone Detre, Mitchell Dowsett, Rinath M Jeselsohn, X Shirley Liu, and Myles Brown

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Skeletal, cardiac, and respiratory muscle function and histopathology in the P448Lneo- mouse model of FKRP-deficient muscular dystrophy., Qing Yu, Melissa Morales, Ning Li, Alexander G Fritz, Ren Ruobing, Anthony Blaeser, Ershia Francois, Qi-Long Lu, Kanneboyina Nagaraju, and Christopher F Spurney

Submissions from 2017

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Interleukin 1 Receptor-Like 1 Protein (ST2) is a Potential Biomarker for Cardiomyopathy in Duchenne Muscular Dystrophy., Julia Anderson, Haeri Seol, Heather Gordish-Dressman, Yetrib Hathout, Christopher F Spurney, and CINRG Investigators.

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Effect of endurance exercise on microRNAs in myositis skeletal muscle-A randomized controlled study., Jessica F Boehler, Marshall W Hogarth, Matthew D Barberio, James S Novak, Svetlana Ghimbovschi, Kristy J Brown, Li Alemo Munters, Ingela Loell, Yi-Wen Chen, Heather Gordish-Dressman, Helene Alexanderson, Ingrid E Lundberg, and Kanneboyina Nagaraju

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The angiotensin-converting enzyme insertion/deletion polymorphism rs4340 associates with habitual physical activity among European American adults., Michael Bruneau, Theodore J Angelopoulos, Paul Gordon, Niall Moyna, Paul Visich, Robert Zoeller, Rick Seip, Stephen Bilbie, Paul Thompson, Joseph Devaney, Heather Gordish-Dressman, Eric Hoffman, and Linda S Pescatello

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Molecular signatures of differential responses to exercise trainings during rehabilitation., Yi-Wen Chen, Chris Gregory, Fan Ye, Naoe Harafuji, Donovan Lott, San-Huei Lai, Sunita Mathur, Mark Scarborough, Parker Gibbs, Celine Baligand, and Krista Vandenborne

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Annexin A2 links poor myofiber repair with inflammation and adipogenic replacement of the injured muscle., Aurelia Defour, Sushma Medikayala, Jack H Van der Meulen, Marshall W Hogarth, Nicholas Holdreith, Apostolos Malatras, William Duddy, Jessica Boehler, Kanneboyina Nagaraju, and Jyoti K Jaiswal

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Effects of Systemic Multiexon Skipping with Peptide-conjugated Morpholinos in the Heart of a Dog Model of Duchenne Muscular Dystrophy., Yusuke Echigoya, Akinori Nakamura, Tetsuya Nagata, Nobuyuki Urasawa, Kenji Rowel Q Lim, Nhu Trieu, Dharminder Panesar, Mutsuki Kuraoka, Hong M Moulton, Takashi Saito, Yoshitsugu Aoki, Patrick Iversen, Peter Sazani, Ryszard Kole, Rika Maruyama, Terry Partridge, Shin'ichi Takeda, and Toshifumi Yokota

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African-American esophageal squamous cell carcinoma expression profile reveals dysregulation of stress response and detox networks., Hayriye Verda Erkizan, Kory Johnson, Svetlana Ghimbovschi, Deepa Karkera, Gregory Trachiotis, Houtan Adib, Eric P Hoffman, and Robert G Wadleigh

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Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis: A review of the literature of secondary causes of lysosomal enzyme activity elevation in serum., Carlos R Ferreira, Joseph M Devaney, Sean E Hofherr, Laura M Pollard, and Kristina Cusmano-Ozog

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24-month HIV-free survival among infants born to HIV-positive women enrolled in Option B+ program in Kigali, Rwanda: The Kabeho Study, Michelle Gill, Heather J. Hoffman, Dieudonne Ndatimana, Placidie Mugwaneza, Laura Guay, and +several additional authors

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Mitochondrial Redox Signaling Enables Repair of Injured Skeletal Muscle Cells., Adam Horn, Jack H Van der Meulen, Aurelia Defour, Marshall Hogarth, Sen Chandra Sreetama, Aaron Reed, Luana Scheffer, Navdeep S Chandel, and Jyoti K Jaiswal

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Pediatric Cochlear Implantation: Variation in Income, Race, Payer, and Charges Across Five States., Zhen Huang, Heather Gordish-Dressman, Diego Preciado, and Brian K Reilly

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Pediatric peritonsillar abscess: Outcomes and cost savings from using transcervical ultrasound., Zhen Huang, William Vintzileos, Heather Gordish-Dressman, Anjum Bandarkar, and Brian K Reilly

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Circulating adipocyte-derived exosomal MicroRNAs associated with decreased insulin resistance after gastric bypass., Monica J. Hubal, Evan P. Nadler, Sarah C Ferrante, Matthew D Barberio, Jung-Hyuk Suh, Justin Wang, G Lynis Dohm, Walter J Pories, Michelle Mietus-Snyder, and Robert J. Freishtat

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An amphipathic trans-acting phosphorothioate RNA element delivers an uncharged phosphorodiamidate morpholino sequence in mdx mouse myotube, H. Jain, J. Boehler, D. Verthelyi, Kanneboyina Nagaraju, and S. Beaucage

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Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene., Yoon J Jang, Abigail L LaBella, Timothy P Feeney, Nancy Braverman, Mendel Tuchman, Hiroki Morizono, Nicholas Ah Mew, and Ljubica Caldovic

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The Prevalence of DICER1 Pathogenic Variation in Population Databases., Jung Kim, Amanda Field, Kris Ann P Schultz, D Ashley Hill, and Douglas R Stewart

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Duchenne Regulatory Science Consortium Meeting on Disease Progression Modeling for Duchenne Muscular Dystrophy., Jane Larkindale, Richard Abresch, Enrique Aviles, Abby Bronson, Janice Chin, Pat Furlong, Heather Gordish-Dressman, and Members Of The Duchenne Regulatory Science Consortium Imaging-Dmd Consortium And The Cinrg Investigators

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miRTarVis+: Web-based Interactive Visual Analytics Tool for MicroRNA Target Predictions., Sehi L'Yi, Daekyoung Jung, Minsik Oh, Bohyoung Kim, Robert J Freishtat, Mamta Giri, Eric Hoffman, and Jinwook Seo

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miRTarVis+: Web-based Interactive Visual Analytics Tool for MicroRNA Target Predictions., Sehi L'Yi, Daekyoung Jung, Minsik Oh, Bohyoung Kim, Robert J Freishtat, Mamta Giri, Eric Hoffman, and Jinwook Seo

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A Pediatric Review of Facioscapulohumeral Muscular Dystrophy, J K. Mah and Y W. Chen

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Genetic characterization of physical activity behaviours in university students enrolled in kinesiology degree programs., Gina M Many, Zachary Kendrick, Chelsea L Deschamps, Courtney Sprouse, Laura L Tosi, Joseph M Devaney, Heather Gordish-Dressman, Whitney Barfield, Eric P Hoffman, Joseph A Houmard, Linda S Pescatello, Hans J Vogel, Jane Shearer, and Dustin S Hittel

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Long-Term Effects of Glucocorticoids on Function, Quality of Life, and Survival in Patients with Duchenne Muscular Dystrophy: A Prospective Cohort Study., Craig M McDonald, Erik K Henricson, Richard T Abresch, Tina Duong, Nanette C Joyce, Fengming Hu, Paula R Clemens, Eric P Hoffman, Avital Cnaan, and Heather Gordish-Dressman

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The dual mTOR Kinase Inhibitor TAK228 Inhibits Tumorigenicity and Enhances Radiosensitization in Diffuse Intrinsic Pontine Glioma., Hiroaki Miyahara, Sridevi Yadavilli, Manabu Natsumeda, Jeffrey Rubens, Louis Rodgers, Madhuri Kambhampati, Isabella Taylor, Harpreet Kaur, Laura Asnaghi, Charles G Eberhart, Katherine E Warren, Javad Nazarian, and Eric H Raabe

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The dual mTOR kinase inhibitor TAK228 inhibits tumorigenicity and enhances radiosensitization in diffuse intrinsic pontine glioma., Hiroaki Miyahara, Sridevi Yadavilli, Manabu Natsumeda, Jeffrey Rubens, Louis Rodgers, Madhuri Kambhampati, Isabella Taylor, Harpreet Kaur, Laura Asnaghi, Charles G Eberhart, Katherine E Warren, Javad Nazarian, and Eric H Raabe

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Human iPSC-Derived Cerebellar Neurons from a Patient with Ataxia-Telangiectasia Reveal Disrupted Gene Regulatory Networks, Sam Nayler, Joseph Powell, Darya Vanichkina, Othmar Korn, Christine Wells, Ryan J. Taft, and +several additional authors

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Superresolution Imaging Identifies That Conventional Trafficking Pathways Are Not Essential for Endoplasmic Reticulum to Outer Mitochondrial Membrane Protein Transport., Kyle Salka, Shivaprasad Bhuvanendran, Kassandra Wilson, Petros Bozidis, Mansi Mehta, Kristin Rainey, Hiromi Sesaki, George H Patterson, Jyoti K. Jaiswal, and Anamaris M. Colberg-Poley

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Visual Diagnosis: A Neonate with Rash and Fever., Rebecca Shay, Wendy Hoffner, Deena Zeltser, and Marcus Mitchell

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Precision Medicine in Rare Disease: Mechanisms of Disparate Effects of n-Carbamyl-l-Glutamate on Mutant CPS1 Enzymes., Dashuang Shi, Gengxiang Zhao, Nicholas Ah Mew, and Mendel Tuchman

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Antibiotic Use by Pediatric Residents: Identifying Opportunities and Strategies for Antimicrobial Stewardship., Prateek J Shukla, Maria Behnam-Terneus, Beatriz Cunill-De Sautu, and Geovanny F Perez

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Myocardial Strain Using Cardiac MR Feature Tracking and Speckle Tracking Echocardiography in Duchenne Muscular Dystrophy Patients., Bryan Siegel, Laura Olivieri, Heather Gordish-Dressman, and Christopher F Spurney

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Mitochondria mediate cell membrane repair and contribute to Duchenne muscular dystrophy., Maria C Vila, Sree Rayavarapu, Marshall W Hogarth, Jack H Van der Meulen, Adam Horn, Aurelia Defour, Shin'ichi Takeda, Kristy J. Brown, Yetrib Hathout, Kanneboyina Nagaraju, and Jyoti K. Jaiswal

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AAV gene therapy corrects OTC deficiency and prevents liver fibrosis in aged OTC-knock out heterozygous mice., Lili Wang, Peter Bell, Hiroki Morizono, Zhenning He, Elena Pumbo, Hongwei Yu, John White, Mark L Batshaw, and James M Wilson

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Improving Reproducibility of Phenotypic Assessments in the DyW Mouse Model of Laminin-α2 Related Congenital Muscular Dystrophy., Raffaella Willmann, Heather Gordish-Dressman, Sarina Meinen, Markus A Rüegg, Qing Yu, Kanneboyina Nagaraju, and +several additional authors

Submissions from 2016

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Glucocorticoid Receptor (NR3C1) Variants Associate with the Muscle Strength and Size Response to Resistance Training., Garrett I Ash, Matthew A Kostek, Harold Lee, Theodore J Angelopoulos, Priscilla M Clarkson, Paul M Gordon, Niall M Moyna, Paul S Visich, Robert F Zoeller, Thomas B Price, Joseph M. Devaney, Heather Gordish-Dressman, Paul D Thompson, Eric P. Hoffman, and Linda S Pescatello

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PDPR Gene Expression Correlates with Exercise-Training Insulin Sensitivity Changes., Matthew D Barberio, Kim M Huffman, Mamta Giri, Eric P. Hoffman, William E Kraus, and Monica J Hubal

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Pyruvate Dehydrogenase Phosphatase Regulatory Gene Expression Correlates with Exercise Training Insulin Sensitivity Changes., Matthew D Barberio, Kim M Huffman, Mamta Giri, Eric P. Hoffman, William E Kraus, and Monica J. Hubal

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DMD genotypes and loss of ambulation in the CINRG Duchenne Natural History Study., Luca Bello, Lauren P Morgenroth, Heather Gordish-Dressman, Eric P. Hoffman, Craig M McDonald, Avital Cnaan, and +21 collaborators

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Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome., Joanna Crawford, Neil I Bower, Benjamin M Hogan, Ryan J. Taft, Michael T Gabbett, Julie McGaughran, and Cas Simons

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Zika Virus Infection with Prolonged Maternal Viremia and Fetal Brain Abnormalities., Rita W. Driggers, Cheng-Ying Ho, Essi M. Korhonen, D. Ashley Hill, Preetha Iyengar, Roberta L. DeBiasi, Gilbert Vezina, and + 13 more

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Neuromuscular endplate pathology in recessive desminopathies: Lessons from man and mice., Hacer Durmuş, Özgecan Ayhan, Sebahattin Çırak, Feza Deymeer, Yeşim Parman, Andre Franke, Nane Eiber, Frederic Chevessier, Ursula Schlötzer-Schrehardt, Christoph S Clemen, Said Hashemolhosseini, Rolf Schröder, Georg Hemmrich-Stanisak, Aslıhan Tolun, and Piraye Serdaroğlu-Oflazer

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The use of proteomic analysis to study trafficking defects in axons., Xiaoqin Fu, Kristy J. Brown, Sree Rayavarapu, Kanneboyina Nagaraju, and Judy S. Liu

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A novel dissociative steroid VBP15 reduces MUC5AC gene expression in airway epithelial cells but lacks the GRE mediated transcriptional properties of dexamethasone., Lindsay M. Garvin, Yajun Chen, Jesse M. Damsker, and Mary C. Rose

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A novel dissociative steroid VBP15 reduces MUC5AC gene expression in airway epithelial cells but lacks the GRE mediated transcriptional properties of dexamethasone., Lindsay M. Garvin, Yajun Chen, Jesse M. Damsker, and Mary C. Rose

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Effect of arginine on oligomerization and stability of N-acetylglutamate synthase., N Haskins, A Mumo, P H Brown, Mendel Tuchman, Hiroki Morizono, and L Caldovic

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Identification of Pathway-Specific Serum Biomarkers of Response to Glucocorticoid and Infliximab Treatment in Children with Inflammatory Bowel Disease, Christopher R. Heier, Alyson A. Fiorillo, Ellen Chaisson, Heather A. Gordish-Dressman, Yetrib Hathout, Jesse M. Damsker, Eric P. Hoffman, and Laurie S. Conklin

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Metataxonomic and Metagenomic Approaches vs. Culture-Based Techniques for Clinical Pathology., Sarah K. Hilton, Eduardo Castro-Nallar, Marcos Pérez-Losada, Ian Toma, Timothy A. McCaffrey, Eric P. Hoffman, Marc O. Siegel, Gary L. Simon, W. Evan Johnson, and Keith Crandall

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The financial impact of clinic no-show rates in an academic pediatric otolaryngology practice., Zhen Huang, Mariam Ashraf, Heather Gordish-Dressman, and Pamela Mudd

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Circulating adipocyte-derived exosomal MicroRNAs associated with decreased insulin resistance after gastric bypass., Monica J. Hubal, Evan P. Nadler, Sarah C Ferrante, Matthew D Barberio, Jung-Hyuk Suh, Justin Wang, G Lynis Dohm, Walter J Pories, Michelle Mietus-Snyder, and Robert J. Freishtat

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Effect of the IL-1 Receptor Antagonist Kineret® on Disease Phenotype in mdx Mice., Margaret E. Benny Klimek, Arpana Sali, Sree Rayavarapu, Jack Van der Meulen, and Kanneboyina Nagaraju

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Effects on muscle tissue remodeling and lipid metabolism in muscle tissue from adult patients with polymyositis or dermatomyositis treated with immunosuppressive agents., Ingela Loell, Joan Raouf, Yi-Wen Chen, Rongye Shi, Inger Nennesmo, Helene Alexanderson, Maryam Dastmalchi, Kanneboyina Nagaraju, Marina Korotkova, and Ingrid E Lundberg

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Sex differences in the association between neck circumference and asthma., Lisa Maltz, Ethan L Matz, Heather Gordish-Dressman, Dinesh K. Pillai, Stephen J. Teach, Carlos A Camargo, Monica J. Hubal, Simran Behniwal, Guy D Prosper, Nicole Certner, Raman Marwah, Douglas M Mansell, Fisayo Nwachukwu, Risa Lazaroff, Yodit Tsegaye, and Robert J. Freishtat

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OPN-a induces muscle inflammation by increasing recruitment and activation of pro-inflammatory macrophages., Gina M Many, Yasuyuki Yokosaki, Kitipong Uaesoontrachoon, Peter P Nghiem, Luca Bello, Sherry Dadgar, Ying Yin, Jesse M Damsker, Heather B Cohen, Joe N Kornegay, Marcas M Bamman, David M Mosser, Kanneboyina Nagaraju, and Eric P Hoffman

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SCN8A encephalopathy: Research progress and prospects., Miriam H Meisler, Guy Helman, Michael F Hammer, Brandy E Fureman, Adeline Vanderver, and + 16 more

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Endurance Exercise Improves Molecular Pathways of Aerobic Metabolism in Patients With Myositis, Li Munters, Elena Ossipova, Joan Raouf, Maryam Dastmalchi, Eva Lindroos, Kanneboyina Nagaraju, and +7 additional authors

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Muscle myeloid type I interferon gene expression may predict therapeutic responses to rituximab in myositis patients., Kanneboyina Nagaraju, Svetlana Ghimbovschi, Sree Rayavarapu, Aditi Phadke, Lisa G. Rider, Eric P. Hoffman, and Frederick Miller

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Histological and molecular analysis of a progressive diffuse intrinsic pontine glioma and synchronous metastatic lesions: a case report., Javad Nazarian, Gary E Mason, Cheng Ying Ho, Eshini Panditharatna, Madhuri Kambhampati, Louis Gilbert Vezina, Roger J. Packer, and Eugene I Hwang

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Global intron retention mediated gene regulation during CD4+ T cell activation., Ting Ni, Wenjing Yang, Miao Han, Yubo Zhang, Ting Shen, Hongbo Nie, Zhihui Zhou, Yalei Dai, Yanqin Yang, Poching Liu, Kairong Cui, Zhouhao Zeng, Yi Tian, Bin Zhou, Gang Wei, Keji Zhao, Weiqun Peng, and Jun Zhu

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Diagnosis and etiology of congenital muscular dystrophy: We are halfway there., Gina L O'Grady, Monkol Lek, Shireen R Lamande, Leigh Waddell, Emily C Oates, Eric Hoffman, and +12 additional authors

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Laminopathies disrupt epigenomic developmental programs and cell fate., Jelena Perovanovic, Stefania Dell'Orso, Viola F. Gnochi, Jyoti K. Jaiswal, Vittorio Sartorelli, Corinne Vigouroux, Kamel Mamchaoui, Vincent Mouly, Gisèle Bonne, and Eric P. Hoffman

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A novel COL12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects., Jaya Punetha, Akanchha Kesari, Eric P. Hoffman, Monika Gos, Anna Kamińska, Anna Kostera-Pruszczyk, Irena Hausmanowa-Petrusewicz, Ying Hu, Yaqun Zou, Carsten G Bönnemann, and Maria Jędrzejowska

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Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases., Jaya Punetha, Akanchha Kesari, Prech Uapinyoying, Mamta Giri, Nigel F Clarke, Eric P. Hoffman, and +15 additional authors

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Somatic Mosaicism Due to a Reversion Variant Causing Hemi-atrophy: A Novel Variant of Dystrophinopathy., Jaya Punetha, Simin Mansoor, Tulio E Bertorini, Akanchha Kesari, Kristy J Brown, and Eric P Hoffman

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Molecular Imaging of Biological Samples on Nanophotonic Laser Desorption Ionization Platforms., Sylwia A Stopka, Charles Rong, Andrew R Korte, Sridevi Yadavilli, Javad Nazarian, Trust T Razunguzwa, Nicholas J Morris, and Akos Vertes

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Vamorolone, a dissociative steroidal compound, reduces pro-inflammatory cytokine expression in glioma cells and increases activity and survival in a murine model of cortical tumor., Elizabeth Wells, Madhuri Kambhampati, Jesse M Damsker, Heather Gordish-Dressman, Sridevi Yadavilli, Oren J Becher, Jamila Gittens, Mojca Stampar, Roger J. Packer, and Javad Nazarian

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A dual AAV system enables the Cas9-mediated correction of a metabolic liver disease in newborn mice., Yang Yang, Lili Wang, Peter Bell, Deirdre McMenamin, Zhenning He, John White, Hongwei Yu, Chenyu Xu, Hiroki Morizono, Kiran Musunuru, Mark L. Batshaw, and James M Wilson

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Salivary latent trait cortisol (LTC): Relation to lipids, blood pressure, and body composition in middle childhood., Ellen W. Yeung, Rebecca Place, Heather Gordish-Dressman, Paul Visich, Eric P. Hoffman, Sheila O. Walker, and Douglas A. Granger

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Salivary Latent Trait Cortisol (LTC): Relation to Lipids, Blood Pressure, and Body Composition in Middle Childhood., Ellen W Yeung, Rebecca Place, Heather Gordish-Dressman, Paul Visich, Eric Hoffman, Sheila O Walker, and Douglas A Granger