Search Results - "Pankaj, Agrawal"

COVID-19 Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in children and adolescents: a systematic review of critically unwell children and the association with underlying comorbidities by Williams, Nia, Radia, Trisha, Harman, Katharine, Agrawal, Pankaj, Cook, James, Gupta, Atul

“…Data show that children are less severely affected with SARS-Covid-19 than adults; however, there have been a small proportion of children who have been…”
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W+W−H production through bottom quarks fusion at hadron colliders by Agrawal, Pankaj, Das, Biswajit

“…With the standard model working well in describing the collider data, the focus is now on determining the standard model parameters as well as for any hint of…”
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Implementation of multi-omics in diagnosis of pediatric rare diseases by Ali, Sara S., Li, Qifei, Agrawal, Pankaj B.

“…The rapid and accurate diagnosis of rare diseases is paramount in directing clinical management. In recent years, the integration of multi-omics approaches has…”
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SPEG binds with desmin and its deficiency causes defects in triad and focal adhesion proteins by Luo, Shiyu, Li, Qifei, Lin, Jasmine, Murphy, Quinn, Marty, Isabelle, Zhang, Yuanfan, Kazerounian, Shideh, Agrawal, Pankaj B

“…Striated preferentially expressed gene (SPEG), a member of the myosin light chain kinase family, is localized at the level of triad surrounding myofibrils in…”
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Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project by Ceyhan-Birsoy, Ozge, Murry, Jaclyn B., Machini, Kalotina, Lebo, Matthew S., Yu, Timothy W., Fayer, Shawn, Genetti, Casie A., Schwartz, Talia S., Agrawal, Pankaj B., Parad, Richard B., Holm, Ingrid A., McGuire, Amy L., Green, Robert C., Rehm, Heidi L., Beggs, Alan H., Agrawal, Pankaj B., Beggs, Alan H., Betting, Wendi N., Ceyhan-Birsoy, Ozge, Christensen, Kurt D., Dukhovny, Dmitry, Fayer, Shawn, Frankel, Leslie A., Genetti, Casie A., Graham, Chet, Green, Robert C., Guiterrez, Amanda M., Harden, Maegan, Holm, Ingrid A., Krier, Joel B., Lebo, Matthew S., Levy, Harvey L., Lu, Xingquan, Machini, Kalotina, McGuire, Amy L., Murry, Jaclyn B., Naik, Medha, Nguyen, Tiffany T., Parad, Richard B., Peoples, Hayley A., Pereira, Stacey, Petersen, Devan, Ramamurthy, Uma, Ramanathan, Vivek, Rehm, Heidi L., Roberts, Amy, Robinson, Jill O., Roumiantsev, Serguei, Schwartz, Talia S., Truong, Tina K., VanNoy, Grace E., Waisbren, Susan E., Yu, Timothy W.

“…Genomic sequencing provides many opportunities in newborn clinical care, but the challenges of interpreting and reporting newborn genomic sequencing (nGS)…”
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Genomic medicine in neonatal care: progress and challenges by D'Gama, Alissa M, Agrawal, Pankaj B

“…During the neonatal period, many genetic disorders present and contribute to neonatal morbidity and mortality. Genomic medicine-the use of genomic information…”
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Striated Preferentially Expressed Protein Kinase (SPEG) in Muscle Development, Function, and Disease by Luo, Shiyu, Rosen, Samantha M., Li, Qifei, Agrawal, Pankaj B.

“…Mutations in striated preferentially expressed protein kinase (SPEG), a member of the myosin light chain kinase protein family, are associated with…”
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SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy by Agrawal, Pankaj B., Pierson, Christopher R., Joshi, Mugdha, Liu, Xiaoli, Ravenscroft, Gianina, Moghadaszadeh, Behzad, Talabere, Tiffany, Viola, Marissa, Swanson, Lindsay C., Haliloğlu, Göknur, Talim, Beril, Yau, Kyle S., Allcock, Richard J.N., Laing, Nigel G., Perrella, Mark A., Beggs, Alan H.

“…Centronuclear myopathies (CNMs) are characterized by muscle weakness and increased numbers of central nuclei within myofibers. X-linked myotubular myopathy,…”
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Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood by Edvardson, Simon, Nicolae, Claudia M., Agrawal, Pankaj B., Mignot, Cyril, Payne, Katelyn, Prasad, Asuri Narayan, Prasad, Chitra, Sadler, Laurie, Nava, Caroline, Mullen, Thomas E., Begtrup, Amber, Baskin, Berivan, Powis, Zöe, Shaag, Avraham, Keren, Boris, Moldovan, George-Lucian, Elpeleg, Orly

“…Ribosomal RNA (rRNA) is transcribed from rDNA by RNA polymerase I (Pol I) to produce the 45S precursor of the 28S, 5.8S, and 18S rRNA components of the…”
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Perspectives of United States neonatologists on genetic testing practices by Wojcik, Monica H., del Rosario, Maya C., Agrawal, Pankaj B.

“…Genetic disorders often present in the neonatal intensive care unit (NICU), and detecting or confirming these diagnoses has been shown to impact care. However,…”
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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 D'Gama, Alissa M, Hills, Sonia, Douglas, Jessica, Young, Vanessa, Genetti, Casie A, Wojcik, Monica H, Feldman, Henry A, Yu, Timothy W, G Parker, Margaret, Agrawal, Pankaj B, Agrawal, Pankaj, Allcroft, Tyler, Bhandari, Vineet, Cantu, Luis, D’Gama, Alissa M, Douglas, Jessica, Feldman, Henry A, Genetti, Casie A, Hills, Sonia, Honrubia, Dynio, Kritzer, Amy, Parker, Margaret, Rhein, Lawrence, Rothstein, Robert, Salinas, Odalys, Santana, Andres, Serna, Anyssa, Shapiro, Faye, Shenoy, Anjana Bhami, Simoncini, Lindsey, Sinha, Bharati, Verran, Aubrie Soucy, Sousa, Anéya, Wojcik, Monica H, Young, Vanessa, Yu, Timothy, Li, Qifei, Brownstein, Catherine, Schmitz-Abe, Klaus, Tamase Newsam, Marione

“…IntroductionRapid genomic sequencing (rGS) in critically ill infants with suspected genetic disorders has high diagnostic and clinical utility. However, rGS…”
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The solute carrier family 26 member 9 modifies rapidly progressing cystic fibrosis associated with homozygous F508del CFTR mutation by Luo, Shiyu, Rollins, Stuart, Schmitz-Abe, Klaus, Tam, Amy, Li, Qifei, Shi, Jiahai, Lin, Jasmine, Wang, Ruobing, Agrawal, Pankaj B.

“…•Genome burden analysis identified SLC26A9 as a modifier gene of cycstic fibrosis.•Two missense variants in SLC26A9 were associated with rapid progressing…”
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Role of genomic medicine and implementing equitable access for critically ill infants in neonatal intensive care units by D’Gama, Alissa M., Agrawal, Pankaj B.

“…Genetic disorders are a leading cause of morbidity and mortality in infants admitted to neonatal intensive care units. This population has immense potential to…”
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Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield by Gubbels, Cynthia S., VanNoy, Grace E., Madden, Jill A., Copenheaver, Deborah, Yang, Sandra, Wojcik, Monica H., Gold, Nina B., Genetti, Casie A., Stoler, Joan, Parad, Richard B., Roumiantsev, Sergei, Bodamer, Olaf, Beggs, Alan H., Juusola, Jane, Agrawal, Pankaj B., Yu, Timothy W.

“…To investigate the impact of rapid-turnaround exome sequencing in critically ill neonates using phenotype-based subject selection criteria. Intensive care unit…”
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Genetic diagnosis in the fetus by Wojcik, Monica H., Reimers, Rebecca, Poorvu, Tabitha, Agrawal, Pankaj B.

“…Many genetic disorders are detectable in the prenatal period, and the capacity to identify them has increased remarkably as molecular genetic testing…”
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Comparative Evaluation of Cutting Efficiency of Three File Systems-Kedo-SH Manual, Pedoflex Rotary, and Manual K File: An In Vitro Study by Kesri, Rituraj, Pardhi, Nikita, Surana, Pratik, Ukey, Ankita, Agrawal, Pankaj K, Agrawal, Sonam

“…The purpose of this study was to comparatively evaluate the cutting efficiency of Pedoflex rotary, Kedo SH manual file, and manual K file systems used in root…”
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Gluon fusion contribution to VHj production at hadron colliders by Agrawal, Pankaj, Shivaji, Ambresh

“…We study the associated production of an electroweak vector boson and the Higgs boson with a jet via gluon–gluon fusion. At the leading order, these processes…”
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A curated gene list for reporting results of newborn genomic sequencing by Ceyhan-Birsoy, Ozge, Machini, Kalotina, Lebo, Matthew S., Yu, Tim W., Agrawal, Pankaj B., Parad, Richard B., Holm, Ingrid A., McGuire, Amy, Green, Robert C., Beggs, Alan H., Rehm, Heidi L.

“…Purpose: Genomic sequencing (GS) for newborns may enable detection of conditions for which early knowledge can improve health outcomes. One of the major…”
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Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy by Ceyhan-Birsoy, Ozge, Agrawal, Pankaj B., Hidalgo, Carlos, Schmitz-Abe, Klaus, DeChene, Elizabeth T., Swanson, Lindsay C., Soemedi, Rachel, Vasli, Nasim, Iannaccone, Susan T., Shieh, Perry B., Shur, Natasha, Dennison, Jane M., Lawlor, Michael W., Laporte, Jocelyn, Markianos, Kyriacos, Fairbrother, William G., Granzier, Henk, Beggs, Alan H.

“…OBJECTIVE:To identify causative genes for centronuclear myopathies (CNM), a heterogeneous group of rare inherited muscle disorders that often present in…”
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Phenotype characterisation of TBX4 mutation and deletion carriers with neonatal and paediatric pulmonary hypertension by Galambos, Csaba, Mullen, Mary P, Shieh, Joseph T, Schwerk, Nicolaus, Kielt, Matthew J, Ullmann, Nicola, Boldrini, Renata, Stucin-Gantar, Irena, Haass, Cristina, Bansal, Manish, Agrawal, Pankaj B, Johnson, Joyce, Peca, Donatella, Surace, Cecilia, Cutrera, Renato, Pauciulo, Michael W, Nichols, William C, Griese, Matthias, Ivy, Dunbar, Abman, Steven H, Austin, Eric D, Danhaive, Olivier

“…Rare variants in the T-box transcription factor 4 gene ( ) have recently been recognised as an emerging cause of paediatric pulmonary hypertension (PH). Their…”
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