Submissions from 2024
Voluntary wheel running improves molecular and functional deficits in a murine model of facioscapulohumeral muscular dystrophy, Adam J. Bittel, Daniel C. Bittel, Heather Gordish-Dressman, and Yi-Wen Chen
DNA Methylation in the Adaptive Response to Exercise, Adam J. Bittel and Yi-Wen Chen
Glutathione peroxidase 3 is a potential biomarker for konzo, Matthew S. Bramble, Victor Fourcassié, Neerja Vashist, Florence Roux-Dalvai, Yun Zhou, Guy Bumoko, Michel Lupamba Kasendue, D'Andre Spencer, Hilaire Musasa Hanshi-Hatuhu, Vincent Kambale-Mastaki, Rafael Vincent Manalo, Aliyah Mohammed, David R. McIlwain, Gary Cunningham, Marshall Summar, Michael J. Boivin, Ljubica Caldovic, Eric Vilain, Dieudonne Mumba-Ngoyi, Desire Tshala-Katumbay, and Arnaud Droit
Nuclear to cytoplasmic transport is a druggable dependency in MYC-driven hepatocellular carcinoma, Anja Deutzmann, Delaney K. Sullivan, Renumathy Dhanasekaran, Wei Li, Xinyu Chen, Ling Tong, Wadie D. Mahauad-Fernandez, John Bell, Adriane Mosley, Angela N. Koehler, Yulin Li, and Dean W. Felsher
Annexins-a family of proteins with distinctive tastes for cell signaling and membrane dynamics, Volker Gerke, Felicity N. Gavins, Michael Geisow, Thomas Grewal, Jyoti K. Jaiswal, Jesper Nylandsted, and Ursula Rescher
Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial, Michael W. Lawlor, Benedikt Schoser, Marta Margeta, Caroline A. Sewry, Karra A. Jones, Perry B. Shieh, Nancy L. Kuntz, Barbara K. Smith, James J. Dowling, Wolfgang Müller-Felber, Carsten G. Bönnemann, Andreea M. Seferian, Astrid Blaschek, Sarah Neuhaus, A Reghan Foley, Dimah N. Saade, Etsuko Tsuchiya, Ummulwara R. Qasim, Margaret Beatka, Mariah J. Prom, Emily Ott, Susan Danielson, Paul Krakau, Suresh N. Kumar, Hui Meng, Mark Vanden Avond, Clive Wells, Heather Gordish-Dressman, Alan H. Beggs, Sarah Christensen, Edward Conner, and Emma S. James
Failure to Resolve Inflammation Contributes to Juvenile-Onset Cardiomyopathy in a Mouse Model of Duchenne Muscular Dystrophy, James S. Novak, Amy Lischin, Prech Uapinyoying, Ravi Hindupur, Young Jae Moon, Surajit Bhattacharya, Sarah Tiufekchiev, Victoria Barone, Davi A. Mázala, Iteoluwakishi H. Gamu, Gabriela Walters, Karuna Panchapakesan, and Jyoti K. Jaiswal
The glucocorticoid receptor acts locally to protect dystrophic muscle and heart during disease, Trinitee Oliver, Nhu Y. Nguyen, Christopher B. Tully, Nikki M. McCormack, Christina M. Sun, Alyson A. Fiorillo, and Christopher R. Heier
Submissions from 2023
266th ENMC International Workshop: Remote delivery of clinical care and validation of remote clinical outcome assessments in neuromuscular disorders: A response to COVID-19 and proactive planning for the future. Hoofddorp, The Netherlands, 1-3 April 2022, Lindsay N. Alfano, Meredith K. James, Gita M. Ramdharry, and Linda P. Lowes
Early Endosomes Undergo Calcium-Triggered Exocytosis and Enable Repair of Diffuse and Focal Plasma Membrane Injury, Daniel C. Bittel and Jyoti K. Jaiswal
Monitoring Plasma Membrane Injury-Triggered Endocytosis at Single-Cell and Single-Vesicle Resolution, Daniel C. Bittel and Jyoti K. Jaiswal
Datamining approaches for examining the low prevalence of N-acetylglutamate synthase deficiency and understanding transcriptional regulation of urea cycle genes, Ljubica Caldovic, Julie J. Ahn, Jacklyn Andricovic, Veronica M. Balick, Mallory Brayer, Pamela A. Chansky, Tyson Dawson, Alex C. Edwards, Sara E. Felsen, Karim Ismat, Sveta V. Jagannathan, Brendan T. Mann, Jacob A. Medina, Toshio Morizono, Michio Morizono, Shatha Salameh, Neerja Vashist, Emily C. Williams, Zhe Zhou, and Hiroki Morizono
Modeling CRISPR-Cas13d on-target and off-target effects using machine learning approaches, Xiaolong Cheng, Zexu Li, Ruocheng Shan, Zihan Li, Shengnan Wang, Wenchang Zhao, Han Zhang, Lumen Chao, Jian Peng, Teng Fei, and Wei Li
Reply: An epigenetic basis for genetic anticipation in facioscapulohumeral muscular dystrophy type 1, Hannes Erdmann, Florentine Scharf, Ariane Hallermayr, Hayk Barsegehyan, Maggie C. Walter, Elke Holinski-Feder, Benedikt Schoser, and Angela Abicht
Differential regulation of MYC expression by in human and mouse kidneys: phenotypic implications for recessive polycystic kidney disease, Naoe Harafuji, Chaozhe Yang, Maoqing Wu, Girija Thiruvengadam, Heather Gordish-Dressman, R Griffin Thompson, P Darwin Bell, Avi Z. Rosenberg, Claudia Dafinger, Max C. Liebau, Zsuzsanna Bebok, Ljubica Caldovic, and Lisa M. Guay-Woodford
The X-linked Becker muscular dystrophy (bmx) mouse models Becker muscular dystrophy via deletion of murine dystrophin exons 45-47, Christopher R. Heier, Nikki M. McCormack, Christopher B. Tully, James S. Novak, Breanne L. Newell-Stamper, Alan J. Russell, and Alyson A. Fiorillo
A review of the anti-tumor potential of current therapeutics targeting the mitochondrial protease ClpP in H3K27-altered, diffuse midline glioma, Evangeline R. Jackson, Mika L. Persson, Cameron J. Fish, Izac J. Findlay, Sabine Mueller, Javad Nazarian, Esther Hulleman, Jasper van der Lugt, Ryan J. Duchatel, and Matthew D. Dun
Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial, Michael W. Lawlor, Benedikt Schoser, Marta Margeta, Caroline A. Sewry, Karra A. Jones, Perry B. Shieh, Nancy L. Kuntz, Barbara K. Smith, James J. Dowling, Wolfgang Müller-Felber, Carsten G. Bönnemann, Andreea M. Seferian, Astrid Blaschek, Sarah Neuhaus, A Reghan Foley, Dimah N. Saade, Etsuko Tsuchiya, Ummulwara R. Qasim, Margaret Beatka, Mariah J. Prom, Emily Ott, Susan Danielson, Paul Krakau, Suresh N. Kumar, Hui Meng, Mark Vanden Avond, Clive Wells, Heather Gordish-Dressman, Alan H. Beggs, Sarah Christensen, Edward Conner, and Emma S. James
Intrinsic targeting of host RNA by Cas13 constrains its utility, Zexu Li, Zihan Li, Xiaolong Cheng, Shengnan Wang, Xiaofeng Wang, Shixin Ma, Zhiyan Lu, Han Zhang, Wenchang Zhao, Zhisong Chen, Yingjia Yao, Cheng Zhang, Lumen Chao, Wei Li, and Teng Fei
Altered muscle niche contributes to myogenic deficit in the D2-mdx model of severe DMD, Davi A. Mázala, Ravi Hindupur, Young Jae Moon, Fatima Shaikh, Iteoluwakishi H. Gamu, Dhruv Alladi, Georgiana Panci, Michèle Weiss-Gayet, Bénédicte Chazaud, Terence A. Partridge, James S. Novak, and Jyoti K. Jaiswal
Vamorolone improves Becker muscular dystrophy and increases dystrophin protein in model mice, Nikki M. McCormack, Nhu Y. Nguyen, Christopher B. Tully, Trinitee Oliver, Alyson A. Fiorillo, and Christopher R. Heier
Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy, Ursula Moore, Esther Fernández-Simón, Marianela Schiava, Dan Cox, Heather Gordish-Dressman, Meredith K. James, Anna Mayhew, Ian Wilson, Michela Guglieri, Laura Rufibach, Andrew Blamire, Pierre G. Carlier, Madoka Mori-Yoshimura, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Elena Bravver, Elena Pegoraro, Jerry R. Mendell, Kate Bushby, Jordi Diaz-Manera, and Volker Straub
Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy, Ursula Moore, Esther Fernández-Simón, Marianela Schiava, Dan Cox, Heather Gordish-Dressman, Meredith K. James, Anna Mayhew, Ian Wilson, Michela Guglieri, Laura Rufibach, Andrew Blamire, Pierre G. Carlier, Madoka Mori-Yoshimura, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Elena Bravver, Elena Pegoraro, Jerry R. Mendell, Kate Bushby, Jordi Diaz-Manera, and Volker Straub
Using a chat-based informed consent tool in large-scale genomic research, Sarah K. Savage, Jonathan LoTempio, Erica D. Smith, E Hallie Andrew, Gloria Mas, Amanda H. Kahn-Kirby, Emmanuèle Délot, Andrea J. Cohen, Georgia Pitsava, Robert Nussbaum, Vincent A. Fusaro, Seth Berger, and Eric Vilain
Decoding Heterogenous Single-cell Perturbation Responses, Bicna Song, Dingyu Liu, Weiwei Dai, Natalie McMyn, Qingyang Wang, Dapeng Yang, Adam Krejci, Anatoly Vasilyev, Nicole Untermoser, Anke Loregger, Dongyuan Song, Breanna Williams, Bess Rosen, Xiaolong Cheng, Lumen Chao, Hanuman T. Kale, Hao Zhang, Yarui Diao, Tilmann Bürckstümmer, Jenet M. Siliciano, Jingyi Jessica Li, Robert Siliciano, Danwei Huangfu, and Wei Li
Factoring single-cell perturbations, Bicna Song and Wei Li
Single-cell transcriptomic analysis of the identity and function of fibro/adipogenic progenitors in healthy and dystrophic muscle, Prech Uapinyoying, Marshall Hogarth, Surajit Battacharya, Davi A. Mázala, Karuna Panchapakesan, Carsten G. Bönnemann, and Jyoti K. Jaiswal
Clinical Efficacy of ONC201 in H3K27M-Mutant Diffuse Midline Gliomas Is Driven by Disruption of Integrated Metabolic and Epigenetic Pathways, Sriram Venneti, Abed Rahman Kawakibi, Sunjong Ji, Sebastian M. Waszak, Stefan R. Sweha, Mateus Mota, Matthew Pun, Akash Deogharkar, Chan Chung, Rohinton S. Tarapore, Samuel Ramage, Andrew Chi, Patrick Y. Wen, Isabel Arrillaga-Romany, Tracy T. Batchelor, Nicholas A. Butowski, Ashley Sumrall, Nicole Shonka, Rebecca A. Harrison, John de Groot, Minesh Mehta, Matthew D. Hall, Doured Daghistani, Timothy F. Cloughesy, Benjamin M. Ellingson, Kevin Beccaria, Pascale Varlet, Michelle M. Kim, Yoshie Umemura, Hugh Garton, Andrea Franson, and Jonathan Schwartz
Metabolic Reprogramming via ACOD1 depletion enhances function of human induced pluripotent stem cell-derived CAR-macrophages in solid tumors, Xudong Wang, Siyu Su, Yuqing Zhu, Xiaolong Cheng, Chen Cheng, Leilei Chen, Anhua Lei, Li Zhang, Yuyan Xu, Dan Ye, Yi Zhang, Wei Li, and Jin Zhang
Beyond the exome: What's next in diagnostic testing for Mendelian conditions, Monica H. Wojcik, Chloe M. Reuter, Shruti Marwaha, Medhat Mahmoud, Michael H. Duyzend, Hayk Barseghyan, Bo Yuan, Philip M. Boone, Emily E. Groopman, Emmanuèle C. Délot, Deepti Jain, and Alba Sanchis-Juan
Pkhd1 mice have altered renal Pkhd1 mRNA processing and hormonally sensitive liver disease, Chaozhe Yang, Naoe Harafuji, Ljubica Caldovic, Weiying Yu, Ravindra Boddu, Surajit Bhattacharya, Hayk Barseghyan, Heather Gordish-Dressman, Oded Foreman, Zsuzsa Bebok, Eva M. Eicher, and Lisa M. Guay-Woodford
Pkhd1 mice have altered renal Pkhd1 mRNA processing and hormonally sensitive liver disease, Chaozhe Yang, Naoe Harafuji, Ljubica Caldovic, Weiying Yu, Ravindra Boddu, Surajit Bhattacharya, Hayk Barseghyan, Heather Gordish-Dressman, Oded Foreman, Zsuzsa Bebok, Eva M. Eicher, and Lisa M. Guay-Woodford
A deep learning-based drug repurposing screening and validation for anti-SARS-CoV-2 compounds by targeting the cell entry mechanism, Yingjia Yao, Yunhan Zhang, Zexu Li, Zhisong Chen, Xiaofeng Wang, Zihan Li, Li Yu, Xiaolong Cheng, Wei Li, Wen-Jie Jiang, Hua-Jun Wu, Zezhong Feng, Jinfu Sun, and Teng Fei
Submissions from 2022
Recessive GCH1 Deficiency Causing DOPA-Responsive Dystonia Diagnosed by Reported Negative Exome, Seth I. Berger, Ilana Miller, and Laura Tochen
Circulating tumor DNA sequencing provides comprehensive mutation profiling for pediatric central nervous system tumors, Erin R. Bonner, Robin Harrington, Augustine Eze, Miriam Bornhorst, Cassie N. Kline, Heather Gordish-Dressman, Adam Dawood, Biswajit Das, Li Chen, Rini Pauly, P Mickey Williams, Chris Karlovich, Amanda Peach, D'andra Howell, James Doroshow, Lindsay Kilburn, Roger J. Packer, Sabine Mueller, and Javad Nazarian
Characterization of the dystrophin-associated protein complex by mass spectrometry, Emily H. Canessa, Rita Spathis, James S. Novak, Aaron Beedle, Kanneboyina Nagaraju, Luca Bello, Elena Pegoraro, Eric P. Hoffman, and Yetrib Hathout
Genome-wide CRISPR screens identify combinations of candidate latency reversing agents for targeting the latent HIV-1 reservoir, Weiwei Dai, Fengting Wu, Natalie McMyn, Bicna Song, Victoria E. Walker-Sperling, Joseph Varriale, Hao Zhang, Dan H. Barouch, Janet D. Siliciano, Wei Li, and Robert F. Siliciano
Pathogenic role and therapeutic potential of fibro-adipogenic progenitors in muscle disease, Marshall W. Hogarth, Prech Uapinyoying, Davi A. Mázala, and Jyoti K. Jaiswal
DNA methylation patterns associated with konzo in Sub-Saharan Africa, Kristen Kocher, Surajit Bhattacharya, Matthew S. Bramble, Daniel Okitundu-Luwa, Dieudonne Mumba Ngoyi, Desire Tshala-Katumbay, and Eric Vilain
Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers, Cartik Kothari, Siddharth Srivastava, Youssef Kousa, Rima Izem, Marcin Gierdalski, Dongkyu Kim, Amy Good, Kira A. Dies, Gregory Geisel, Hiroki Morizono, Vittorio Gallo, Scott L. Pomeroy, Gwenn A. Garden, Lisa Guay-Woodford, Mustafa Sahin, and Paul Avillach
Muscle cells of sporadic amyotrophic lateral sclerosis patients secrete neurotoxic vesicles, Laura Le Gall, William J. Duddy, Cecile Martinat, Virginie Mariot, Owen Connolly, Vanessa Milla, Ekene Anakor, Zamalou G. Ouandaogo, Stephanie Millecamps, Jeanne Lainé, Udaya Geetha Vijayakumar, Susan Knoblach, Cedric Raoul, Olivier Lucas, Jean Philippe Loeffler, Peter Bede, Anthony Behin, Helene Blasco, Gaelle Bruneteau, Maria Del Mar Amador, David Devos, Alexandre Henriques, Adele Hesters, Lucette Lacomblez, Pascal Laforet, Timothee Langlet, Pascal Leblanc, Nadine Le Forestier, Thierry Maisonobe, Vincent Meininger, Laura Robelin, and Francois Salachas
The children's brain tumor network (CBTN) - Accelerating research in pediatric central nervous system tumors through collaboration and open science, Jena V. Lilly, Jo Lynne Rokita, Jennifer L. Mason, Tatiana Patton, Stephanie Stefankiewiz, David Higgins, Gerri Trooskin, Carina A. Larouci, Kamnaa Arya, Elizabeth Appert, Allison P. Heath, Yuankun Zhu, Miguel A. Brown, Bo Zhang, Bailey K. Farrow, Shannon Robins, Allison M. Morgan, Thinh Q. Nguyen, Elizabeth Frenkel, Kaitlin Lehmann, Emily Drake, Catherine Sullivan, Alexa Plisiewicz, Noel Coleman, Luke Patterson, Mateusz Koptyra, Zeinab Helili, Nicholas Van Kuren, Nathan Young, Meen Chul Kim, Christopher Friedman, and Alex Lubneuski
Water T2 could predict functional decline in patients with dysferlinopathy, Ursula Moore, Ericky Caldas de Almeida Araújo, Harmen Reyngoudt, Heather Gordish-Dressman, Fiona E. Smith, Ian Wilson, Meredith James, Anna Mayhew, Laura Rufibach, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori-Yoshimura, Elena Bravver, Elena Pegoraro, and Jerry R. Mendell
Serum periostin among infants with severe bronchiolitis and risk of developing asthma: A prospective multicenter cohort study, Makiko Nanishi, Michimasa Fujiogi, Robert J. Freishtat, Claire E. Hoptay, Cindy S. Bauer, Michelle D. Stevenson, Carlos A. Camargo, and Kohei Hasegawa
Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy, Harmen Reyngoudt, Fiona E. Smith, Ericky Caldas de Almeida Araújo, Ian Wilson, Roberto Fernández-Torrón, Meredith K. James, Ursula R. Moore, Jordi Díaz-Manera, Benjamin Marty, Noura Azzabou, Heather Gordish, Laura Rufibach, Tim Hodgson, Dorothy Wallace, Louise Ward, Jean-Marc Boisserie, Julien Le Louër, Heather Hilsden, Helen Sutherland, Aurélie Canal, Jean-Yves Hogrel, Marni Jacobs, Tanya Stojkovic, Kate Bushby, and Anna Mayhew
Decision making in differences of sex development/intersex care in the USA: bridging advocacy and family-centred care, David E. Sandberg and Eric Vilain
Decision making in differences of sex development/intersex care in the USA: bridging advocacy and family-centred care, David E. Sandberg and Eric Vilain
A genome-wide CRISPR screen identifies WDFY3 as a regulator of macrophage efferocytosis, Jianting Shi, Xun Wu, Ziyi Wang, Fang Li, Yujiao Meng, Rebecca M. Moore, Jian Cui, Chenyi Xue, Katherine R. Croce, Arif Yurdagul, John G. Doench, Wei Li, Konstantinos S. Zarbalis, Ira Tabas, Ai Yamamoto, and Hanrui Zhang
RNA Sequencing in COVID-19 patients identifies neutrophil activation biomarkers as a promising diagnostic platform for infections, Richard Wargodsky, Philip Dela Cruz, John LaFleur, David Yamane, Justin Sungmin Kim, Ivy Benjenk, Eric Heinz, Obinna Ome Irondi, Katherine Farrar, Ian Toma, Tristan Jordan, Jennifer Goldman, and Timothy A. McCaffrey
Transcription factor Ap2b regulates the mouse autosomal recessive polycystic kidney disease genes, Pkhd1 and Cys1, Maoqing Wu, Naoe Harafuji, Amber K. O'Connor, Ljubica Caldovic, and Lisa M. Guay-Woodford
Submissions from 2021
Traumatic Brain Injury Induces cGAS Activation and Type I Interferon Signaling in Aged Mice., James P Barrett, Susan M. Knoblach, Surajit Bhattacharya, Heather Gordish-Dressman, Bogdan A Stoica, and David J Loane
Mechanisms of imipridones in targeting mitochondrial metabolism in cancer cells., Erin R. Bonner, Sebastian M Waszak, Michael A Grotzer, Sabine Mueller, and Javad Nazarian
Towards improved genetic diagnosis of human differences of sex development., Emmanuèle C. Délot and Eric Vilain
A dystrophin exon‐52 deleted miniature pig model of duchenne muscular dystrophy and evaluation of exon skipping, Yusuke Echigoya, Nhu Trieu, William Duddy, Hong M. Moulton, HaiFang Yin, Terence A. Partridge, Eric P. Hoffman, Joe N. Kornegay, Frank A. Rohret, Christopher S. Rogers, and Toshifumi Yokota
Standardization of the liquid biopsy for pediatric diffuse midline glioma using ddPCR., Daphne Li, Erin R. Bonner, Kyle Wierzbicki, Eshini Panditharatna, Tina Huang, Rishi Lulla, Sabine Mueller, Carl Koschmann, Javad Nazarian, and Amanda M Saratsis
DUX4 Transcript Knockdown with Antisense 2'-O-Methoxyethyl Gapmers for the Treatment of Facioscapulohumeral Muscular Dystrophy., Kenji Rowel Q Lim, Adam Bittel, Rika Maruyama, Yusuke Echigoya, Quynh Nguyen, Yiqing Huang, Kasia Dzierlega, Aiping Zhang, Yi-Wen Chen, and Toshifumi Yokota
An in silico drug repositioning workflow for host-based antivirals, Zexu Li, Yingjia Yao, Xiaolong Cheng, Wei Li, and Teng Fei
Human muscle stem cells are refractory to aging., James S. Novak, Davi A G Mázala, Marie Nearing, Ravi Hindupur, Prech Uapinyoying, Nayab F Habib, Tessa Dickson, Olga B Ioffe, Brent T Harris, Marie N Fidelia-Lambert, Christopher T. Rossi, D Ashely Hill, Kathryn R Wagner, Eric P Hoffman, and Terence A. Partridge
Submissions from 2020
Membrane Repair Deficit in Facioscapulohumeral Muscular Dystrophy., Adam J Bittel, Sen Chandra Sreetama, Daniel C Bittel, Adam Horn, James S. Novak, Toshifumi Yokota, Aiping Zhang, Rika Maruyama, Kenji Rowel Q Lim, Jyoti K. Jaiswal, and Yi-Wen Chen
CRISP-view: a database of functional genetic screens spanning multiple phenotypes., Yingbo Cui, Xiaolong Cheng, Qing Chen, Bicna Song, Anthony Chiu, Yuan Gao, Tyson Dawson, Lumen Chao, Wubing Zhang, Dian Li, Zexiang Zeng, Jijun Yu, Zexu Li, Teng Fei, Shaoliang Peng, and Wei Li
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome., A Reghan Foley, Yaqun Zou, James E. Dunford, Jachinta Rooney, Goutam Chandra, Hui Xiong, Volker Straub, Thomas Voit, Norma Romero, Sandra Donkervoort, Ying Hu, Thomas Markello, Adam Horn, Leila Qebibo, Jahannaz Dastgir, Katherine Meilleur, Richard S. Finkel, Yanbin Fan, Kamel Mamchaoui, Stephanie Duguez, Isabelle Nelson, Jocelyn Laporte, Mariarita Santi, Edoardo Malfatti, Thierry Maisonobe, Philippe Touraine, Michio Hirano, Imelda Hughes, Kate Bushby, Udo Oppermann, Johann Böhm, Jyoti K. Jaiswal, Tanya Stojkovic, and Carsten G. Bönnemann
Splitting up to heal: mitochondrial shape regulates signaling for focal membrane repair., Adam Horn and Jyoti K. Jaiswal
Mitochondrial fragmentation enables localized signaling required for cell repair., Adam Horn, Shreya Raavicharla, Sonna Shah, Dan Cox, and Jyoti K. Jaiswal
Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations., Joel J. Hughes, Ebba Alkhunaizi, Paul Kruszka, Louise C. Pyle, Dorothy K. Grange, Seth I. Berger, Katelyn K. Payne, Diane Masser-Frye, Tommy Hu, Michelle R. Christie, Nancy J. Clegg, Joshua L. Everson, Ariel F. Martinez, Laurence E. Walsh, Emma Bedoukian, Marilyn C. Jones, Catharine Jean Harris, Korbinian M. Riedhammer, Daniela Choukair, Patricia Y. Fechner, Meilan M. Rutter, Sophia B. Hufnagel, Maian Roifman, Gad B. Kletter, Emmanuele Delot, Eric Vilain, Robert J. Lipinski, Chad M. Vezina, Maximilian Muenke, and David Chitayat
Pediatric high-grade glioma resources from the Children's Brain Tumor Tissue Consortium., Heba Ijaz, Mateusz Koptyra, Krutika S. Gaonkar, Jo Lynne Rokita, Valerie P. Baubet, Lamiya Tauhid, Yuankun Zhu, Miguel Brown, Gonzalo Lopez, Bo Zhang, Sharon J. Diskin, Zalman Vaksman, Children's Brain Tumor Tissue Consortium, Jennifer L. Mason, Elizabeth Appert, Jena Lilly, Rishi Lulla, Thomas De Raedt, Allison P. Heath, Alex Felmeister, Pichai Raman, Javad Nazarian, Maria Rita Santi, Phillip B. Storm, Adam Resnick, Angela J. Waanders, and Kristina A. Cole
Muscle weakness in myositis: microRNAs mediate dystrophin reduction in MHC class I transgenic mouse model and human muscle biopsies., Travis B. Kinder, Christopher R. Heier, Christopher B. Tully, Jack H. Van der Muelen, Eric P. Hoffman, Kanneboyina Nagaraju, and Alyson A. Fiorillo
Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study., Eugenio Mercuri, Francesco Muntoni, Andrés Nascimento Osorio, Már Tulinius, Filippo Buccella, Lauren P. Morgenroth, Heather Gordish-Dressman, Joel Jiang, Panayiota Trifillis, Jin Zhu, Allan Kristensen, Claudio L. Santos, Erik K. Henricson, Craig M. McDonald, and Isabelle Desguerre
Skeletal muscle in health and disease., Jennifer Morgan and Terence Partridge
COVID-19 and the International Academy of Sex Research: We Will Be Back., Brian Mustanski, Eric Vilain, Shari L. Dworkin, Kelly D. Suschinsky, and Kenneth J. Zucker
Cost-effectiveness analysis of phenotypic-guided versus guidelines-guided bronchodilator therapy in viral bronchiolitis., Carlos E Rodriguez-Martinez, Gustavo Nino, Jose A Castro-Rodriguez, Geovanny F Perez, Monica P Sossa-Briceño, and Jefferson Antonio Buendia
Newborn screening protocols and positive predictive value for congenital adrenal hyperplasia vary across the United States, P. W. Speiser, R. Chawla, M. Chen, A. Diaz-Thomas, C. Finlayson, M. M. Rutter, D. E. Sandberg, K. Shimy, R. Talib, J. Cerise, Eric Vilain, and Emmanuèle C. Délot
A long-read RNA-seq approach to identify novel transcripts of very large genes., Prech Uapinyoying, Jeremy Goecks, Susan M. Knoblach, Karuna Panchapakesan, Carsten G Bonnemann, Terence A. Partridge, Jyoti K. Jaiswal, and Eric P Hoffman
scMAGeCK links genotypes with multiple phenotypes in single-cell CRISPR screens., Lin Yang, Yuqing Zhu, Hua Yu, Xiaolong Cheng, Sitong Chen, Yulan Chu, He Huang, Jin Zhang, and Wei Li
Submissions from 2019
Mitochondrial dysfunction and role of harakiri in the pathogenesis of myositis., Jessica F. Boehler, Adam Horn, James S. Novak, Ning Li, Svetlana Ghimbovschi, Ingrid E. Lundberg, Helene Alexanderson, Li Alemo Munters, Jyoti K. Jaiswal, and Kanneboyina Nagaraju
Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids., Erin R Bonner, Karim Saoud, Sulgi Lee, Eshini Panditharatna, Madhuri Kambhampati, Sabine Mueller, and Javad Nazarian
Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids., Erin R Bonner, Karim Saoud, Sulgi Lee, Eshini Panditharatna, Madhuri Kambhampati, Sabine Mueller, and Javad Nazarian
Sex steroid hormone modulation of neural stem cells: a critical review., Matthew S Bramble, Neerja Vashist, and Eric Vilain
The Role of Sex Research Organizations in Eliminating Sexual Harassment., E Sandra Byers, Brian Mustanski, Scott Semenyna, Kelly D Suschinsky, and Eric Vilain
The Role of Sex Research Organizations in Eliminating Sexual Harassment., E Sandra Byers, Brian Mustanski, Scott Semenyna, Kelly D Suschinsky, and Eric Vilain
Towards regulatory endorsement of drug development tools to promote the application of model-informed drug development in Duchenne muscular dystrophy., Daniela J Conrado, Jane Larkindale, Alexander Berg, Micki Hill, Jackson Burton, Keith R Abrams, Richard T Abresch, Abby Bronson, Douglass Chapman, Michael Crowther, Tina Duong, Heather Gordish-Dressman, Lutz Harnisch, Erik Henricson, Sarah Kim, Craig M McDonald, Stephan Schmidt, Camille Vong, Xiaoxing Wang, Brenda L Wong, Florence Yong, and Klaus Romero
Dysregulation of Mitochondrial Ca2+ Uptake and Sarcolemma Repair Underlie Muscle Weakness and Wasting in Patients and Mice Lacking MICU1, Valentina Debattisti, Adam Horn, Raghavendra Singh, Erin L Seifert, Marshall W Hogarth, Davi A Mazala, Kai Ting Huang, Rita Horvath, Jyoti K Jaiswal, and György Hajnóczky
Psychosocial Screening in Disorders/Differences of Sex Development: Psychometric Evaluation of the Psychosocial Assessment Tool., Michelle M Ernst, Melissa Gardner, Constance A Mara, Emmanuèle C Délot, Patricia Y Fechner, Michelle Fox, Meilan M Rutter, Phyllis W Speiser, Eric Vilain, Erica M Weidler, and David E Sandberg
Genetic evidence of the association of DEAH-box helicase 37 defects with 46,XY gonadal dysgenesis spectrum., Thatiana Evilen da Silva, Nathalia Lisboa Gomes, Antonio Marcondes Lerário, Catherine Elizabeth Keegan, Mirian Yumi Nishi, Filomena Marino Carvalho, Eric Vilain, Hayk Barseghyanm, Alejandro Martinez-Aguayo, María Verónica Forclaz, Regina Papazian, Leila Cristina Pedroso de Paula, Eduardo Corrêa Costa, Luciani Renata Carvalho, Alexander A Jorge, Felipe Elias, Rod Mitchell, Elaine Maria Frade Costa, Berenice Bilharinho Mendonca, and Sorahia Domenice
Deciphering essential cistromes using genome-wide CRISPR screens., Teng Fei, Wei Li, Jingyu Peng, Tengfei Xiao, Chen-Hao Chen, Alexander Wu, Jialiang Huang, Chongzhi Zang, X Shirley Liu, and Myles Brown
Perioperative Outcomes and Surgical Case Volume in Pediatric Complex Cranial Vault Reconstruction: A Multicenter Observational Study From the Pediatric Craniofacial Collaborative Group., Allison M. Fernandez, Srijaya K. Reddy, Heather Gordish-Dressman, Bridget L. Muldowney, José Luis Martinez, Franklin Chiao, Paul A. Stricker, and Pediatric Craniofacial Collaborative Group
Vamorolone targets dual nuclear receptors to treat inflammation and dystrophic cardiomyopathy., Christopher R Heier, Qing Yu, Alyson A Fiorillo, Christopher B Tully, Asya Tucker, Davi A Mazala, Kitipong Uaesoontrachoon, Sadish Srinivassane, Jesse M Damsker, Eric P Hoffman, Kanneboyina Nagaraju, and Christopher F Spurney
ACVR1 R206H cooperates with H3.1K27M in promoting diffuse intrinsic pontine glioma pathogenesis., Christine M Hoeman, Francisco J Cordero, Guo Hu, Katie Misuraca, Megan M Romero, Herminio J Cardona, Javad Nazarian, Rintaro Hashizume, Roger McLendon, Paul Yu, Daniele Procissi, Samantha Gadd, and Oren J Becher
Fibroadipogenic progenitors are responsible for muscle loss in limb girdle muscular dystrophy 2B., Marshall W Hogarth, Aurelia Defour, Christopher Lazarski, Eduard Gallardo, Jordi Diaz Manera, Terence A Partridge, Kanneboyina Nagaraju, and Jyoti K Jaiswal
Structural and signaling role of lipids in plasma membrane repair., Adam Horn and Jyoti K. Jaiswal
MAP1B related syndrome: Case presentation and review of literature., Diana M Julca, Jullianne Diaz, Seth Berger, and Eyby Leon
Influence of β2 adrenergic receptor genotype on risk of nocturnal ventilation in patients with Duchenne muscular dystrophy, Eli F Kelley, Troy J Cross, Eric M Snyder, Craig M McDonald, CINRG Investigators, Eric P Hoffman, and Luca Bello
Eteplirsen Treatment Attenuates Respiratory Decline in Ambulatory and Non-Ambulatory Patients with Duchenne Muscular Dystrophy., Navid Khan, Helen Eliopoulos, Lixin Han, T Bernard Kinane, Linda P Lowes, Jerry R Mendell, Heather Gordish-Dressman, Erik K Henricson, and Craig M McDonald
Eteplirsen Treatment Attenuates Respiratory Decline in Ambulatory and Non Ambulatory Patients with Duchenne Muscular Dystrophy., Navid Khan, Helen Eliopoulos, Lixin Han, T Bernard Kinane, Linda P Lowes, Jerry R Mendell, Heather Gordish-Dressman, Erik K Henricson, and M McDonald
Identification of Novel RAS Signaling Therapeutic Vulnerabilities in Diffuse Intrinsic Pontine Gliomas., Robert F. Koncar, Brittany R. Dey, Ann-Catherine J. Stanton, Nishant Agrawal, Michelle L. Wassell, Lauren H. McCarl, Abigail L. Locke, Lauren Sanders, Olena Morozova-Vaske, Max I. Myers, Ronald L. Hamilton, Angel M. Carcaboso, Gary Kohanbash, Baoli Hu, Nduka M. Amankulor, James Felker, Madhuri Kambhampati, Javad Nazarian, Oren J. Becher, C David James, Rintaro Hashizume, Alberto Broniscer, Ian F. Pollack, and Sameer Agnihotri
A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly., Paul Kruszka, Seth I Berger, Karin Weiss, Joshua L Everson, Ariel F Martinez, Sungkook Hong, Kwame Anyane-Yeboa, Robert J Lipinski, and Maximilian Muenke
9-Azido-9-deoxy-2,3-difluorosialic Acid as a Subnanomolar Inhibitor against Bacterial Sialidases., Wanqing Li, Abhishek Santra, Hai Yu, Teri J Slack, Musleh M Muthana, Dashuang Shi, Yang Liu, and Xi Chen
Histone Variant and Cell Context Determine H3K27M Reprogramming of the Enhancer Landscape and Oncogenic State., Surya Nagaraja, Michael A. Quezada, Shawn M. Gillespie, Marlene Arzt, James J. Lennon, Pamelyn J. Woo, Volker Hovestadt, Madhuri Kambhampati, Mariella G. Filbin, Mario L. Suva, Javad Nazarian, and Michelle Monje
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals., Bobby G Ng, Paulina Sosicka, Satish Agadi, Mohammed Almannai, Carlos A Bacino, Rita Barone, Lorenzo D Botto, Jennifer E Burton, Colleen Carlston, Brian Hon-Yin Chung, Julie S Cohen, David Coman, Katrina M Dipple, Naghmeh Dorrani, William B Dobyns, Abdallah F Elias, Leon Epstein, William A Gahl, Domenico Garozzo, Trine Bjørg Hammer, Jaclyn Haven, Delphine Héron, Matthew Herzog, George E Hoganson, Jesse M Hunter, Mahim Jain, Jane Juusola, Shenela Lakhani, Hane Lee, Joy Lee, Katherine Lewis, Nicola Longo, Charles Marques Lourenço, Christopher C Y Mak, Dianalee McKnight, Bryce A Mendelsohn, Cyril Mignot, Ghayda Mirzaa, Wendy Mitchell, Hiltrud Muhle, Stanley F Nelson, Mariusz Olczak, Christina G S Palmer, Arthur Partikian, Marc C Patterson, Tyler M Pierson, Shane C Quinonez, Brigid M Regan, M Elizabeth Ross, Maria J Guillen Sacoto, Fernando Scaglia, Ingrid E Scheffer, Devorah Segal, Nilika Shah Singhal, Pasquale Striano, Luisa Sturiale, Joseph D Symonds, Sha Tang, Eric Vilain, Mary Willis, Lynne A Wolfe, Hui Yang, Shoji Yano, Zöe Powis, Sharon F Suchy, Jill A Rosenfeld, Andrew C Edmondson, Stephanie Grunewald, and Hudson H Freeze
Translating genomics to the clinical diagnosis of disorders/differences of sex development, Abhinav Parivesh, Hayk Barseghyan, Emmanuèle C. Délot, and Eric JN Vilain
Development of a decision support tool in pediatric Differences/Disorders of Sex Development., David E. Sandberg, Melissa Gardner, Kristin Kopec, Megan Urbanski, Nina Callens, Catherine E. Keegan, Beverly M. Yashar, Patricia Y. Fechner, Margarett Shnorhavorian, Eric Vilain, Stefan Timmermans, and Laura A. Siminoff