Skeletal muscle microRNA and messenger RNA profiling in cofilin-2 deficient mice reveals cell cycle dysregulation hindering muscle regeneration.

by Sarah U Morton, Mugdha Joshi, Talia Savic, Alan H Beggs, Pankaj B Agrawal
Published 2015-01-01

Expectation versus Reality: The Impact of Utility on Emotional Outcomes after Returning Individualized Genetic Research Results in Pediatric Rare Disease Research, a Qualitative In...

by Cara N Cacioppo, Ariel E Chandler, Meghan C Towne, Alan H Beggs, Ingrid A Holm
Published 2016-01-01

An open source microcontroller based flume for evaluating swimming performance of larval, juvenile, and adult zebrafish.

by Jeffrey J Widrick, Devin E Gibbs, Benjamin Sanchez, Vandana A Gupta, Anna Pakula, Christian Lawrence, Alan H Beggs, Louis M Kunkel
Published 2018-01-01

Molecular classification of nemaline myopathies: “nontyping” specimens exhibit unique patterns of gene expression

by Despina Sanoudou, Leslie A. Frieden, Judith N. Haslett, Alvin T. Kho, Steven A. Greenberg, Isaac S. Kohane, Louis M. Kunkel, Alan H. Beggs
Published 2004-04-01

A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish.

by Vandana A Gupta, Genri Kawahara, Jennifer A Myers, Aye T Chen, Thomas E Hall, M Chiara Manzini, Peter D Currie, Yi Zhou, Leonard I Zon, Louis M Kunkel, Alan H Beggs
Published 2012-01-01

RNA helicase, DDX27 regulates skeletal muscle growth and regeneration by modulation of translational processes.

by Alexis H Bennett, Marie-Francoise O'Donohue, Stacey R Gundry, Aye T Chan, Jeffrey Widrick, Isabelle Draper, Anirban Chakraborty, Yi Zhou, Leonard I Zon, Pierre-Emmanuel Gleizes, Alan H Beggs, Vandana A Gupta
Published 2018-03-01

Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish.

by Vandana A Gupta, Karim Hnia, Laura L Smith, Stacey R Gundry, Jessica E McIntire, Junko Shimazu, Jessica R Bass, Ethan A Talbot, Leonela Amoasii, Nathaniel E Goldman, Jocelyn Laporte, Alan H Beggs
Published 2013-06-01

Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models

by James J. Dowling, Romain Joubert, Sean E. Low, Ashley N. Durban, Nadia Messaddeq, Xingli Li, Ashley N. Dulin-Smith, Andrew D. Snyder, Morgan L. Marshall, Jordan T. Marshall, Alan H. Beggs, Anna Buj-Bello, Christopher R. Pierson
Published 2012-11-01

De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report

by Chrystal F. Mavros, Catherine A. Brownstein, Roshni Thyagrajan, Casie A. Genetti, Sahil Tembulkar, Kelsey Graber, Quinn Murphy, Kristin Cabral, Grace E. VanNoy, Matthew Bainbridge, Jiahai Shi, Pankaj B. Agrawal, Alan H. Beggs, Eugene D’Angelo, Joseph Gonzalez-Heydrich
Published 2018-11-01

Selenoprotein N‐related myopathy: a retrospective natural history study to guide clinical trials

by Arpana Silwal, Anna Sarkozy, Mariacristina Scoto, Deborah Ridout, Anne Schmidt, Aidan Laverty, Matilde Henriques, Luigi D'Argenzio, Marion Main, Rachael Mein, Adnan Y Manzur, Francois Abel, Fouad Al‐Ghamdi, Casie A Genetti, Didem Ardicli, Goknur Haliloglu, Haluk Topaloglu, Alan H Beggs, Francesco Muntoni
Published 2020-11-01

A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders

by Jignesh R. Parikh, Casie A. Genetti, Asli Aykanat, Catherine A. Brownstein, Klaus Schmitz-Abe, Morgan Danowski, Andrew Quitadomo, Jill A. Madden, Calum Yacoubian, Richard Gain, Tessa Williams, Mary Meskell, Andrew Brown, Alison Frith, Shira Rockowitz, Piotr Sliz, Pankaj B. Agrawal, Thomas Defay, Paul McDonagh, John Reynders, Sebastien Lefebvre, Alan H. Beggs
Published 2021-07-01

Withdrawn Article

by Alcy Torres, Catherine A. Brownstein, Sahil K. Tembulkar, Kelsey Graber, Casie Genetti, Robin J. Kleiman, Kathleen Sweadner, Kevin X. Liu, Chrystal Mavros, Niklas Smedemark-Margulies, Pankaj B. Agrawal, Jiahai Shi, Alan H. Beggs, Eugene D'Angelo, Sarah Hope Lincoln, Devon Carroll, Fatma Dedeoglu, William A. Gahl, Catherine M. Biggs, Kathryn J. Swoboda, Gerard T. Berry, Joseph Gonzalez-Heydrich
Published 2019-03-01

De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome

by Alcy Torres, Catherine A. Brownstein, Sahil K. Tembulkar, Kelsey Graber, Casie Genetti, Robin J. Kleiman, Kathleen J. Sweadner, Chrystal Mavros, Kevin X. Liu, Niklas Smedemark-Margulies, Kiran Maski, Edward Yang, Pankaj B. Agrawal, Jiahai Shi, Alan H. Beggs, Eugene D'Angelo, Sarah Hope Lincoln, Devon Carroll, Fatma Dedeoglu, William A. Gahl, Catherine M. Biggs, Kathryn J. Swoboda, Gerard T. Berry, Joseph Gonzalez-Heydrich
Published 2018-09-01

The BabySeq project: implementing genomic sequencing in newborns

by Ingrid A. Holm, Pankaj B. Agrawal, Ozge Ceyhan-Birsoy, Kurt D. Christensen, Shawn Fayer, Leslie A. Frankel, Casie A. Genetti, Joel B. Krier, Rebecca C. LaMay, Harvey L. Levy, Amy L. McGuire, Richard B. Parad, Peter J. Park, Stacey Pereira, Heidi L. Rehm, Talia S. Schwartz, Susan E. Waisbren, Timothy W. Yu, The BabySeq Project Team, Robert C. Green, Alan H. Beggs
Published 2018-07-01