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
Williams, Nia, Radia, Trisha, Harman, Katharine, Agrawal, Pankaj, Cook, James, Gupta, Atul
Published in European journal of pediatrics (01.03.2021)
Published in European journal of pediatrics (01.03.2021)
Get full text
Journal Article
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project
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.
Published in American journal of human genetics (03.01.2019)
Published in American journal of human genetics (03.01.2019)
Get full text
Journal Article
Genomic medicine in neonatal care: progress and challenges
D'Gama, Alissa M, Agrawal, Pankaj B
Published in European journal of human genetics : EJHG (01.12.2023)
Published in European journal of human genetics : EJHG (01.12.2023)
Get full text
Journal Article
SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy
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.
Published in American journal of human genetics (07.08.2014)
Published in American journal of human genetics (07.08.2014)
Get full text
Journal Article
Perspectives of United States neonatologists on genetic testing practices
Wojcik, Monica H., del Rosario, Maya C., Agrawal, Pankaj B.
Published in Genetics in medicine (01.06.2022)
Published in Genetics in medicine (01.06.2022)
Get full text
Journal Article
Implementation of rapid genomic sequencing in safety-net neonatal intensive care units: protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept study
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
Published in BMJ open (06.02.2024)
Published in BMJ open (06.02.2024)
Get full text
Journal Article
Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood
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
Published in American journal of human genetics (03.08.2017)
Published in American journal of human genetics (03.08.2017)
Get full text
Journal Article
The solute carrier family 26 member 9 modifies rapidly progressing cystic fibrosis associated with homozygous F508del CFTR mutation
Luo, Shiyu, Rollins, Stuart, Schmitz-Abe, Klaus, Tam, Amy, Li, Qifei, Shi, Jiahai, Lin, Jasmine, Wang, Ruobing, Agrawal, Pankaj B.
Published in Clinica chimica acta (15.07.2024)
Published in Clinica chimica acta (15.07.2024)
Get full text
Journal Article
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield
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.
Published in Genetics in medicine (01.04.2020)
Published in Genetics in medicine (01.04.2020)
Get full text
Journal Article
Comparative Evaluation of Cutting Efficiency of Three File Systems-Kedo-SH Manual, Pedoflex Rotary, and Manual K File: An In Vitro Study
Kesri, Rituraj, Pardhi, Nikita, Surana, Pratik, Ukey, Ankita, Agrawal, Pankaj K, Agrawal, Sonam
Published in Journal of pharmacy & bioallied science (01.02.2024)
Published in Journal of pharmacy & bioallied science (01.02.2024)
Get full text
Journal Article
A curated gene list for reporting results of newborn genomic sequencing
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
Published in Genetics in medicine (01.07.2017)
Published in Genetics in medicine (01.07.2017)
Get full text
Journal Article
Genetic diagnosis in the fetus
Wojcik, Monica H, Reimers, Rebecca, Poorvu, Tabitha, Agrawal, Pankaj B
Published in Journal of perinatology (01.07.2020)
Published in Journal of perinatology (01.07.2020)
Get full text
Journal Article
Phenotype characterisation of TBX4 mutation and deletion carriers with neonatal and paediatric pulmonary hypertension
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
Published in The European respiratory journal (01.08.2019)
Published in The European respiratory journal (01.08.2019)
Get full text
Journal Article
Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities
Wojcik, Monica H, Schwartz, Talia S, Yamin, Inbar, Edward, Heather L, Genetti, Casie A, Towne, Meghan C, Agrawal, Pankaj B
Published in Genetics in medicine (01.11.2018)
Published in Genetics in medicine (01.11.2018)
Get full text
Journal Article
The BabySeq project: implementing genomic sequencing in newborns
Holm, Ingrid A, Agrawal, Pankaj B, Ceyhan-Birsoy, Ozge, Christensen, Kurt D, Fayer, Shawn, Frankel, Leslie A, Genetti, Casie A, Krier, Joel B, LaMay, Rebecca C, Levy, Harvey L, McGuire, Amy L, Parad, Richard B, Park, Peter J, Pereira, Stacey, Rehm, Heidi L, Schwartz, Talia S, Waisbren, Susan E, Yu, Timothy W, Green, Robert C, Beggs, Alan H
Published in BMC pediatrics (09.07.2018)
Published in BMC pediatrics (09.07.2018)
Get full text
Journal Article