Striated Preferentially Expressed Protein Kinase (SPEG) in Muscle Development, Function, and Disease

by Shiyu Luo, Samantha M. Rosen, Qifei Li, Pankaj B. Agrawal
Published 2021-05-01

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

microRNA-mRNA Profile of Skeletal Muscle Differentiation and Relevance to Congenital Myotonic Dystrophy

by Sarah U. Morton, Christopher R. Sefton, Huanqing Zhang, Manhong Dai, David L. Turner, Michael D. Uhler, Pankaj B. Agrawal
Published 2021-03-01

Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency

by Xin Fan, Bobo Xie, Jun Zou, Jingsi Luo, Zailong Qin, Alissa M. D'Gama, Jiahai Shi, Shang Yi, Qi Yang, Jin Wang, Shiyu Luo, Shaoke Chen, Pankaj B. Agrawal, Qifei Li, Yiping Shen
Published 2018-09-01

An Unusual Case of Rickets and How Whole Exome Sequencing Helped to Correct a Diagnosis

by Patricia R. Peter, MD, Catherine A. Brownstein, PhD, Gang-Qing Yao, MD, Elizabeth A. Olear, MS, MA, Christine A. Simpson, MS, MT (ASCP), Pankaj B. Agrawal, MD, MMSC, Thomas O. Carpenter, MD, Karl L. Insogna, MD
Published 2016-01-01

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

Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation.

by Amy E O'Connell, Maxim V Gerashchenko, Marie-Francoise O'Donohue, Samantha M Rosen, Eric Huntzinger, Diane Gleeson, Antonella Galli, Edward Ryder, Siqi Cao, Quinn Murphy, Shideh Kazerounian, Sarah U Morton, Klaus Schmitz-Abe, Vadim N Gladyshev, Pierre-Emmanuel Gleizes, Bertrand Séraphin, Pankaj B Agrawal
Published 2019-02-01

Pressure Overload in Mice With Haploinsufficiency of Striated Preferentially Expressed Gene Leads to Decompensated Heart Failure

by Chang Shu, Chang Shu, He Huang, He Huang, Ying Xu, Ying Xu, Marcello Rota, Marcello Rota, Marcello Rota, Andrea Sorrentino, Andrea Sorrentino, Yuan Peng, Robert F. Padera, Robert F. Padera, Virginia Huntoon, Pankaj B. Agrawal, Xiaoli Liu, Xiaoli Liu, Mark A. Perrella, Mark A. Perrella
Published 2018-07-01

A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings.

by Qifei Li, Michal Dibus, Alicia Casey, Christina S K Yee, Sara O Vargas, Shiyu Luo, Samantha M Rosen, Jill A Madden, Casie A Genetti, Jan Brabek, Catherine A Brownstein, Shideh Kazerounian, Benjamin A Raby, Klaus Schmitz-Abe, John C Kennedy, Martha P Fishman, Mary P Mullen, Joan M Taylor, Daniel Rosel, Pankaj B Agrawal
Published 2021-07-01

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