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Submissions from 2023

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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

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Early Endosomes Undergo Calcium-Triggered Exocytosis and Enable Repair of Diffuse and Focal Plasma Membrane Injury, Daniel C. Bittel and Jyoti K. Jaiswal

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Monitoring Plasma Membrane Injury-Triggered Endocytosis at Single-Cell and Single-Vesicle Resolution, Daniel C. Bittel and Jyoti K. Jaiswal

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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Factoring single-cell perturbations, Bicna Song and Wei Li

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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

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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

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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

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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

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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

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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

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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

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Recessive GCH1 Deficiency Causing DOPA-Responsive Dystonia Diagnosed by Reported Negative Exome, Seth I. Berger, Ilana Miller, and Laura Tochen

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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

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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

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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

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Pathogenic role and therapeutic potential of fibro-adipogenic progenitors in muscle disease, Marshall W. Hogarth, Prech Uapinyoying, Davi A. Mázala, and Jyoti K. Jaiswal

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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

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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

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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

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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

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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

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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

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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

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Decision making in differences of sex development/intersex care in the USA: bridging advocacy and family-centred care, David E. Sandberg and Eric Vilain

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Decision making in differences of sex development/intersex care in the USA: bridging advocacy and family-centred care, David E. Sandberg and Eric Vilain

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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

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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

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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

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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

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Mechanisms of imipridones in targeting mitochondrial metabolism in cancer cells., Erin R. Bonner, Sebastian M Waszak, Michael A Grotzer, Sabine Mueller, and Javad Nazarian

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Towards improved genetic diagnosis of human differences of sex development., Emmanuèle C. Délot and Eric Vilain

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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

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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

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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

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An in silico drug repositioning workflow for host-based antivirals, Zexu Li, Yingjia Yao, Xiaolong Cheng, Wei Li, and Teng Fei

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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

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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

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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

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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

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Splitting up to heal: mitochondrial shape regulates signaling for focal membrane repair., Adam Horn and Jyoti K. Jaiswal

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Mitochondrial fragmentation enables localized signaling required for cell repair., Adam Horn, Shreya Raavicharla, Sonna Shah, Dan Cox, and Jyoti K. Jaiswal

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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

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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

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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

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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

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Skeletal muscle in health and disease., Jennifer Morgan and Terence Partridge

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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

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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

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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

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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

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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

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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

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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

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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

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Sex steroid hormone modulation of neural stem cells: a critical review., Matthew S Bramble, Neerja Vashist, and Eric Vilain

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The Role of Sex Research Organizations in Eliminating Sexual Harassment., E Sandra Byers, Brian Mustanski, Scott Semenyna, Kelly D Suschinsky, and Eric Vilain

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The Role of Sex Research Organizations in Eliminating Sexual Harassment., E Sandra Byers, Brian Mustanski, Scott Semenyna, Kelly D Suschinsky, and Eric Vilain

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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

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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

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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

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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

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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

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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

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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

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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

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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

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Structural and signaling role of lipids in plasma membrane repair., Adam Horn and Jyoti K. Jaiswal

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MAP1B related syndrome: Case presentation and review of literature., Diana M Julca, Jullianne Diaz, Seth Berger, and Eyby Leon

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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

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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

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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

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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

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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

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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

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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

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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

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Translating genomics to the clinical diagnosis of disorders/differences of sex development, Abhinav Parivesh, Hayk Barseghyan, Emmanuèle C. Délot, and Eric JN Vilain

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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

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Long-term data with idebenone on respiratory function outcomes in patients with Duchenne muscular dystrophy., Laurent Servais, Chiara S M Straathof, Ulrike Schara, Andrea Klein, Mika Leinonen, Shabir Hasham, Thomas Meier, Liesbeth De Waele, Heather Gordish-Dressman, Craig M. McDonald, Oscar H. Mayer, Thomas Voit, Eugenio Mercuri, and Gunnar M. Buyse

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Long-read single-molecule maps of the functional methylome., Hila Sharim, Assaf Grunwald, Tslil Gabrieli, Yael Michaeli, Sapir Margalit, Dmitry Torchinsky, Rani Arielly, Gil Nifker, Matyas Juhasz, Felix Gularek, Miguel Almalvez, Brandon Dufault, Sreetama Sen Chandra, Alexander Liu, Surajit Bhattacharya, Yi-Wen Chen, Eric Vilain, Kathryn R Wagner, Jonathan Pevsner, Jeff Reifenberger, Ernest T Lam, Alex R Hastie, Han Cao, Hayk Barseghyan, Elmar Weinhold, and Yuval Ebenstein

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Annexin A7 is required for ESCRT III-mediated plasma membrane repair., Stine Lauritzen Sønder, Theresa Louise Boye, Regine Tölle, Jörn Dengjel, Kenji Maeda, Marja Jäättelä, Adam Cohen Simonsen, Jyoti K Jaiswal, and Jesper Nylandsted

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The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell Resolution., Deanne M Taylor, Bruce J Aronow, Kai Tan, Kathrin Bernt, Nathan Salomonis, Casey S Greene, Alina Frolova, Sarah E Henrickson, Andrew Wells, Liming Pei, Jyoti K Jaiswal, Jeffrey Whitsett, Kathryn E Hamilton, Sonya A MacParland, Judith Kelsen, Robert O Heuckeroth, S Steven Potter, Laura A Vella, Natalie A Terry, Louis R Ghanem, Benjamin C Kennedy, Ingo Helbig, Kathleen E Sullivan, Leslie Castelo-Soccio, Arnold Kreigstein, Florian Herse, Martijn C Nawijn, Gerard H Koppelman, Melissa Haendel, Nomi L Harris, Jo Lynne Rokita, Yuanchao Zhang, Aviv Regev, Orit Rozenblatt-Rosen, Jennifer E Rood, Timothy L Tickle, Roser Vento-Tormo, Saif Alimohamed, Monkol Lek, Jessica C Mar, Kathleen M Loomes, David M Barrett, Prech Uapinyoying, Alan H Beggs, Pankaj B Agrawal, Yi-Wen Chen, Amanda B Muir, Lana X Garmire, Scott B Snapper, Javad Nazarian, Steven H Seeholzer, Hossein Fazelinia, Larry N Singh, Robert B Faryabi, Pichai Raman, Noor Dawany, Hongbo Michael Xie, Batsal Devkota, Sharon J Diskin, Stewart A Anderson, Eric F Rappaport, William Peranteau, Kathryn A Wikenheiser-Brokamp, Sarah Teichmann, Douglas Wallace, Tao Peng, Yang-Yang Ding, Man S Kim, Yi Xing, Sek Won Kong, Carsten G Bönnemann, Kenneth D Mandl, and Peter S White

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Gender destinies: assigning gender in Disorders of Sex Development-Intersex clinics., Stefan Timmermans, Ashelee Yang, Melissa Gardner, Catherine E Keegan, Beverly M Yashar, Patricia Y Fechner, Margarett Schnorhavorian, Eric Vilain, Laura A Siminoff, and David E Sandberg

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Science's place in shaping gender-based policies in athletics., Eric Vilain and Maria José Martinez-Patiño

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Morpholino-induced exon skipping stimulates cell-mediated and humoral responses to dystrophin in mdx mice., Maria Candida Vila, James S Novak, Margaret Benny Klimek, Ning Li, Melissa Morales, Alexander G Fritz, Katie Edwards, Jessica F Boehler, Marshall W Hogarth, Travis B Kinder, Aiping Zhang, Davi Mazala, Alyson A Fiorillo, Bonnie Douglas, Yi-Wen Chen, John van den Anker, Qi Long Lu, Yetrib Hathout, Eric P Hoffman, Terence A Partridge, and Kanneboyina Nagaraju

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Integrative analysis of pooled CRISPR genetic screens using MAGeCKFlute., Binbin Wang, Mei Wang, Wubing Zhang, Tengfei Xiao, Chen-Hao Chen, Alexander Wu, Feizhen Wu, Nicole Traugh, Xiaoqing Wang, Ziyi Li, Shenglin Mei, Yingbo Cui, Sailing Shi, Jesse Jonathan Lipp, Matthias Hinterndorfer, Johannes Zuber, Myles Brown, Wei Li, and X Shirley Liu

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Genome-wide identification of the essential protein-coding genes and long noncoding RNAs for human pan-cancer., Yuwei Zhang, Yang Tao, Huihui Ji, Wei Li, Xingli Guo, Derry Minyao Ng, Maria Haleem, Yang Xi, Changzheng Dong, Jinshun Zhao, Lina Zhang, Xiaohong Zhang, Yangyang Xie, Xiaoyu Dai, and Qi Liao