Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency
Fan, Xin, Xie, Bobo, Zou, Jun, Luo, Jingsi, Qin, Zailong, D'Gama, Alissa M., Shi, Jiahai, Yi, Shang, Yang, Qi, Wang, Jin, Luo, Shiyu, Chen, Shaoke, Agrawal, Pankaj B., Li, Qifei, Shen, Yiping
Published in Molecular genetics and metabolism reports (01.09.2018)
Published in Molecular genetics and metabolism reports (01.09.2018)
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Journal Article
WNT2B Deficiency Causes Enhanced Susceptibility to Colitis Due to Increased Inflammatory Cytokine Production
O’Connell, Amy E., Raveenthiraraj, Sathuwarman, Oliveira, Luiz Fernando Silva, Adegboye, Comfort, Dasuri, Venkata Siva, Qi, Wanshu, Khetani, Radhika S., Singh, Akaljot, Sundaram, Nambirajam, Lin, Jasmine, Nandivada, Prathima, Rincón-Cruz, Lorena, Goldsmith, Jeffrey D., Thiagarajah, Jay R., Carlone, Diana L., Turner, Jerrold R., Agrawal, Pankaj B., Helmrath, Michael, Breault, David T.
Published in Cellular and molecular gastroenterology and hepatology (01.01.2024)
Published in Cellular and molecular gastroenterology and hepatology (01.01.2024)
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Journal Article
Health care failure mode and effect analysis to reduce NICU line-associated bloodstream infections
Chandonnet, Celeste J, Kahlon, Prerna S, Rachh, Pratik, Degrazia, Michele, Dewitt, Eileen C, Flaherty, Kathleen A, Spigel, Nadine, Packard, Stephanie, Casey, Denise, Rachwal, Christine, Agrawal, Pankaj B
Published in Pediatrics (Evanston) (01.06.2013)
Published in Pediatrics (Evanston) (01.06.2013)
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Journal Article
Enablers and Barriers to the Scaling Up of Pneumococcal Conjugate Vaccine in India During the COVID-19 Pandemic: A Qualitative Study
Hora, Rhythm, Ray, Arindam, Mehra, Rashmi, Priya, Tanwi, Koshal, Seema Singh, Agrawal, Pankaj, Kaur, Amanjot, Quadri, Syed F, Deb Roy, Arup
Published in Health services insights (01.01.2023)
Published in Health services insights (01.01.2023)
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Journal Article
Cofilin-2 Phosphorylation and Sequestration in Myocardial Aggregates
Subramanian, Khaushik, BS, Gianni, Davide, PhD, Balla, Cristina, MD, PhD, Assenza, Gabriele Egidy, MD, Joshi, Mugdha, BS, Semigran, Marc J., MD, Macgillivray, Thomas E., MD, Van Eyk, Jennifer E., PhD, Agnetti, Giulio, PhD, Paolocci, Nazareno, MD, PhD, Bamburg, James R., PhD, Agrawal, Pankaj B., MD, del Monte, Federica, MD, PhD
Published in Journal of the American College of Cardiology (31.03.2015)
Published in Journal of the American College of Cardiology (31.03.2015)
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Journal Article
Perinatal-lethal nonimmune fetal hydrops attributed to MECOM -associated bone marrow failure
Dash, Camille A, Madden, Jill A, Cummings, Christy, Rose, Melissa, Wilson, Sheria D, Mori, Mari, Agrawal, Pankaj B, Chaudhari, Bimal P, Wojcik, Monica H
Published in Cold Spring Harbor molecular case studies (01.06.2023)
Published in Cold Spring Harbor molecular case studies (01.06.2023)
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Journal Article
Pituitary apoplexy in an adolescent male with macroprolactinoma presenting as middle cerebral artery territory infarction
Agrawal, Pankaj, Newbold, Sally, Busaidi, Ayisha Al, Kapoor, Ritika R, Thomas, Nick, Aylwin, Simon Jb, Buchanan, Charles R, Arya, Ved Bhushan
Published in Annals of pediatric endocrinology & metabolism (01.12.2022)
Published in Annals of pediatric endocrinology & metabolism (01.12.2022)
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Journal Article
Expanding the phenotypic spectrum associated with OPHN1 variants
Schwartz, Talia S., Wojcik, Monica H., Pelletier, Renee C., Edward, Heather L., Picker, Jonathan D., Holm, Ingrid A., Towne, Meghan C., Beggs, Alan H., Agrawal, Pankaj B.
Published in European journal of medical genetics (01.02.2019)
Published in European journal of medical genetics (01.02.2019)
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Journal Article
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome
Kummeling, Joost, Stremmelaar, Diante E, Raun, Nicholas, Reijnders, Margot R F, Willemsen, Marjolein H, Ruiterkamp-Versteeg, Martina, Schepens, Marga, Man, Calvin C O, Gilissen, Christian, Cho, Megan T, McWalter, Kirsty, Sinnema, Margje, Wheless, James W, Simon, Marleen E H, Genetti, Casie A, Casey, Alicia M, Terhal, Paulien A, van der Smagt, Jasper J, van Gassen, Koen L I, Joset, Pascal, Bahr, Angela, Steindl, Katharina, Rauch, Anita, Keller, Elmar, Raas-Rothschild, Annick, Koolen, David A, Agrawal, Pankaj B, Hoffman, Trevor L, Powell-Hamilton, Nina N, Thiffault, Isabelle, Engleman, Kendra, Zhou, Dihong, Bodamer, Olaf, Hoefele, Julia, Riedhammer, Korbinian M, Schwaibold, Eva M C, Tasic, Velibor, Schubert, Dirk, Top, Deniz, Pfundt, Rolph, Higgs, Martin R, Kramer, Jamie M, Kleefstra, Tjitske
Published in Molecular psychiatry (01.06.2021)
Published in Molecular psychiatry (01.06.2021)
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Journal Article
Congenital hypothyroidism
Agrawal, Pankaj, Philip, Rajeev, Saran, Sanjay, Gutch, Manish, Razi, Mohd Sayed, Agroiya, Puspalata, Gupta, Keshavkumar
Published in Indian journal of endocrinology and metabolism (01.03.2015)
Published in Indian journal of endocrinology and metabolism (01.03.2015)
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Journal Article
P672: Long-read sequencing reveals a novel pathogenic variant in IKBKG with associated skewed X-inactivation in affected females
Miller, Danny, Dash, Camille, Miller, David, Galey, Miranda, Lin, Jasmine, Madden, Jill A., Beggs, Alan, Agrawal, Pankaj, Genetti, Casie, Wojcik, Monica
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Journal Article
P410: The effect of newborn genomic screening on downstream health care utilization and costs: Evidence from the BabySeq Project
Smith, Hadley, Agrawal, Pankaj, Dukhovny, Dmitry, Genetti, Casie, Holm, Ingrid, McGuire, Amy, Pereira, Stacey, Wu, Ann, Beggs, Alan, Green, Robert, Parad, Richard, Christensen, Kurt
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Journal Article
Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations
Brownstein, Catherine A., Beggs, Alan H., Rodan, Lance, Shi, Jiahai, Towne, Meghan C., Pelletier, Renee, Cao, Siqi, Rosenberg, Paul A., Urion, David K., Picker, Jonathan, Tan, Wen-Hann, Agrawal, Pankaj B.
Published in Neurogenetics (01.01.2016)
Published in Neurogenetics (01.01.2016)
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Journal Article
Pre-clinical development of a novel CD3-CD123 bispecific T-cell engager using cross-over dual-variable domain (CODV) format for acute myeloid leukemia (AML) treatment
Bonnevaux, Hélène, Guerif, Stephane, Albrecht, Jana, Jouannot, Erwan, De Gallier, Thibaud, Beil, Christian, Lange, Christian, Leuschner, Wulf Dirk, Schneider, Marion, Lemoine, Cendrine, Caron, Anne, Amara, Céline, Barrière, Cédric, Siavellis, Justine, Bardet, Valérie, Luna, Ernesto, Agrawal, Pankaj, Drake, Donald R., Rao, Ercole, Wonerow, Peter, Carrez, Chantal, Blanc, Véronique, Hsu, Karl, Wiederschain, Dmitri, Fraenkel, Paula G., Virone-Oddos, Angéla
Published in Oncoimmunology (01.01.2021)
Published in Oncoimmunology (01.01.2021)
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Journal Article
Production of a KK-graviton and a vector boson in ADD model via gluon fusion
Shivaji, Ambresh, Ravindran, V., Agrawal, Pankaj
Published in The journal of high energy physics (01.02.2012)
Published in The journal of high energy physics (01.02.2012)
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Journal Article
Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project
Wojcik, Monica H., Zhang, Tian, Ceyhan-Birsoy, Ozge, Genetti, Casie A., Lebo, Matthew S., Yu, Timothy W., Parad, Richard B., Holm, Ingrid A., Rehm, Heidi L., Beggs, Alan H., Green, Robert C., Agrawal, Pankaj B., Agrawal, Pankaj B., Betting, Wendi N., Christensen, Kurt D., Dukhovny, Dmitry, Fayer, Shawn, Frankel, Leslie A., Graham, Chet, Guiterrez, Amanda M., Harden, Maegan, Krier, Joel B., Levy, Harvey L., Lu, Xingquan, Machini, Kalotina, McGuire, Amy L., Murry, Jaclyn B., Naik, Medha, Nguyen, Tiffany T., Peoples, Hayley A., Pereira, Stacey, Petersen, Devan, Ramamurthy, Uma, Ramanathan, Vivek, Roberts, Amy, Robinson, Jill O., Roumiantsev, Serguei, Schwartz, Talia S., Truong, Tina K., VanNoy, Grace E., Waisbren, Susan E.
Published in Genetics in medicine (01.07.2021)
Published in Genetics in medicine (01.07.2021)
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Journal Article
A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia
Smedemark-Margulies, Niklas, Brownstein, Catherine A, Vargas, Sigella, Tembulkar, Sahil K, Towne, Meghan C, Shi, Jiahai, Gonzalez-Cuevas, Elisa, Liu, Kevin X, Bilguvar, Kaya, Kleiman, Robin J, Han, Min-Joon, Torres, Alcy, Berry, Gerard T, Yu, Timothy W, Beggs, Alan H, Agrawal, Pankaj B, Gonzalez-Heydrich, Joseph
Published in Cold Spring Harbor molecular case studies (01.09.2016)
Published in Cold Spring Harbor molecular case studies (01.09.2016)
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Journal Article
The Notch1/CD22 signaling axis disrupts Treg function in SARS-CoV-2-associated multisystem inflammatory syndrome in children
Benamar, Mehdi, Chen, Qian, Chou, Janet, Julé, Amélie M, Boudra, Rafik, Contini, Paola, Crestani, Elena, Lai, Peggy S, Wang, Muyun, Fong, Jason, Rockwitz, Shira, Lee, Pui, Chan, Tsz Man Fion, Altun, Ekin Zeynep, Kepenekli, Eda, Karakoc-Aydiner, Elif, Ozen, Ahmet, Boran, Perran, Aygun, Fatih, Onal, Pinar, Sakalli, Ayse Ayzit Kilinc, Cokugras, Haluk, Gelmez, Metin Yusuf, Oktelik, Fatma Betul, Cetin, Esin Aktas, Zhong, Yuelin, Taylor, Maria Lucia, Irby, Katherine, Halasa, Natasha B, Mack, Elizabeth H, Signa, Sara, Prigione, Ignazia, Gattorno, Marco, Cotugno, Nicola, Amodio, Donato, Geha, Raif S, Son, Mary Beth, Newburger, Jane, Agrawal, Pankaj B, Volpi, Stefano, Palma, Paolo, Kiykim, Ayca, Randolph, Adrienne G, Deniz, Gunnur, Baris, Safa, De Palma, Raffaele, Schmitz-Abe, Klaus, Charbonnier, Louis-Marie, Henderson, Lauren A, Chatila, Talal A
Published in The Journal of clinical investigation (01.01.2023)
Published in The Journal of clinical investigation (01.01.2023)
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