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

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Integrating rapid exome sequencing into NICU clinical care after a pilot research study by Alissa M. D’Gama, Maya C. Del Rosario, Mairead A. Bresnahan, Timothy W. Yu, Monica H. Wojcik, Pankaj B. Agrawal

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A child with dilated cardiomyopathy and homozygous splice site variant in FLNC gene by Afaf Alsubhi, Manar Aldarwish, Pankaj B. Agrawal, Saeed M. Al Tala, Osama Eldadah, Abdulla A. Alghamdi, Amal Silmi, Mohammed Almannai

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HBS1L deficiency causes retinal dystrophy in a child and in a mouse model associated with defective development of photoreceptor cells by Shiyu Luo, Bilal Alwattar, Qifei Li, Kiran Bora, Alexandra K. Blomfield, Jasmine Lin, Anne Fulton, Jing Chen, Pankaj B. Agrawal

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Dynamin-2 reduction rescues the skeletal myopathy of a SPEG-deficient mouse model by Qifei Li, Jasmine Lin, Jeffrey J. Widrick, Shiyu Luo, Gu Li, Yuanfan Zhang, Jocelyn Laporte, Mark A. Perrella, Xiaoli Liu, Pankaj B. Agrawal

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Integrated multi‐omics approach reveals the role of striated muscle preferentially expressed protein kinase in skeletal muscle including its relationship with myospryn complex by Qifei Li, Jasmine Lin, Shiyu Luo, Klaus Schmitz‐Abe, Rohan Agrawal, Melissa Meng, Behzad Moghadaszadeh, Alan H. Beggs, Xiaoli Liu, Mark A. Perrella, Pankaj B. Agrawal

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An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations by Frances O. Flanagan, Alexander M. Holtz, Sara O. Vargas, Casie A. Genetti, Klaus Schmitz-Abe, Alicia Casey, John C. Kennedy, Benjamin A. Raby, Mary P. Mullen, Martha P. Fishman, Pankaj B. Agrawal

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Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort by Elicia Estrella, Shira Rockowitz, Marielle Thorne, Pressley Smith, Jeanette Petit, Veronica Zehnder, Richard N. Yu, Stuart Bauer, Charles Berde, Pankaj B. Agrawal, Alan H. Beggs, Ali G. Gharavi, Louis Kunkel, Catherine A. Brownstein

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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

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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

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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

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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

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WNT2B Deficiency Causes Enhanced Susceptibility to Colitis Due to Increased Inflammatory Cytokine ProductionSummary by Amy E. O’Connell, Sathuwarman Raveenthiraraj, Luiz Fernando Silva Oliveira, Comfort Adegboye, Venkata Siva Dasuri, Wanshu Qi, Radhika S. Khetani, Akaljot Singh, Nambirajam Sundaram, Jasmine Lin, Prathima Nandivada, Lorena Rincón-Cruz, Jeffrey D. Goldsmith, Jay R. Thiagarajah, Diana L. Carlone, Jerrold R. Turner, Pankaj B. Agrawal, Michael Helmrath, David T. Breault

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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

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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

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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

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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

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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

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Implementation of rapid genomic sequencing in safety-net neonatal intensive care units: protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept study by Pankaj Agrawal, Vineet Bhandari, Casie A Genetti, Margaret Parker, Timothy Yu, Lawrence Rhein, Jessica Douglas, Bharati Sinha, Pankaj B Agrawal, Alissa M D'Gama, Sonia Hills, Vanessa Young, Monica H Wojcik, Henry A Feldman, Timothy W Yu, Margaret G Parker, Tyler Allcroft, Luis Cantu, Alissa M D’Gama, Dynio Honrubia, Amy Kritzer, Robert Rothstein, Odalys Salinas, Andres Santana, Anyssa Serna, Faye Shapiro, Anjana Bhami Shenoy, Lindsey Simoncini, Aubrie Soucy Verran, Anéya Sousa, Qifei Li, Catherine Brownstein, Klaus Schmitz-Abe, Marione Tamase Newsam

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Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms by Megan Yabumoto, Jessica Kianmahd, Meghna Singh, Maria F. Palafox, Angela Wei, Kathryn Elliott, Dana H. Goodloe, S. Joy Dean, Catherine Gooch, Brianna K. Murray, Erin Swartz, Samantha A. Schrier Vergano, Meghan C. Towne, Kimberly Nugent, Elizabeth R. Roeder, Christina Kresge, Beth A. Pletcher, Katheryn Grand, John M. Graham Jr., Ryan Gates, Natalia Gomez‐Ospina, Subhadra Ramanathan, Robin Dawn Clark, Kimberly Glaser, Paul J. Benke, Julie S. Cohen, Ali Fatemi, Weiyi Mu, Kristin W. Baranano, Jill A. Madden, Cynthia S. Gubbels, Timothy W. Yu, Pankaj B. Agrawal, Mary‐Kathryn Chambers, Chanika Phornphutkul, John A. Pugh, Kate A. Tauber, Svetlana Azova, Jessica R. Smith, Anne O’Donnell‐Luria, Hannah Medsker, Siddharth Srivastava, Deborah Krakow, Daniela N. Schweitzer, Valerie A. Arboleda

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