Reconsidering Genetic Testing for Neonatal Polycystic Kidney Disease
VanNoy, Grace E., Wojcik, Monica H., Genetti, Casie A., Mullen, Thomas E., Agrawal, Pankaj B., Stein, Deborah R.
Published in Kidney international reports (01.08.2020)
Published in Kidney international reports (01.08.2020)
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Journal Article
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders
Parikh, Jignesh R., Genetti, Casie A., Aykanat, Asli, Brownstein, Catherine A., Schmitz-Abe, Klaus, Danowski, Morgan, Quitadomo, Andrew, Madden, Jill A., Yacoubian, Calum, Gain, Richard, Williams, Tessa, Meskell, Mary, Brown, Andrew, Frith, Alison, Rockowitz, Shira, Sliz, Piotr, Agrawal, Pankaj B., Defay, Thomas, McDonagh, Paul, Reynders, John, Lefebvre, Sebastien, Beggs, Alan H.
Published in HGG advances (01.07.2021)
Published in HGG advances (01.07.2021)
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Journal Article
REAL TIME SIGN LANGUAGE: A REVIEW
NAKUL, NAGPAL, ARUN, K. MITTRA, PANKAJ, AGRAWAL
Published in I-manager's Journal on Pattern Recognition (2018)
Published in I-manager's Journal on Pattern Recognition (2018)
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Journal Article
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
Harris, Holly K., Nakayama, Tojo, Lai, Jenny, Zhao, Boxun, Argyrou, Nikoleta, Gubbels, Cynthia S., Soucy, Aubrie, Genetti, Casie A., Suslovitch, Victoria, Rodan, Lance H., Tiller, George E., Lesca, Gaetan, Gripp, Karen W., Asadollahi, Reza, Hamosh, Ada, Applegate, Carolyn D., Turnpenny, Peter D., Simon, Marleen E.H., Volker-Touw, Catharina M.L., Gassen, Koen L.I. van, Binsbergen, Ellen van, Pfundt, Rolph, Gardeitchik, Thatjana, Vries, Bert B.A. de, Immken, LaDonna L., Buchanan, Catherine, Willing, Marcia, Toler, Tomi L., Fassi, Emily, Baker, Laura, Vansenne, Fleur, Wang, Xiadong, Ambrus, Julian L., Fannemel, Madeleine, Posey, Jennifer E., Agolini, Emanuele, Novelli, Antonio, Rauch, Anita, Boonsawat, Paranchai, Fagerberg, Christina R., Larsen, Martin J., Kibaek, Maria, Labalme, Audrey, Poisson, Alice, Payne, Katelyn K., Walsh, Laurence E., Aldinger, Kimberly A., Balciuniene, Jorune, Skraban, Cara, Gray, Christopher, Murrell, Jill, Bupp, Caleb P., Pascolini, Giulia, Grammatico, Paola, Broly, Martin, Küry, Sébastien, Nizon, Mathilde, Rasool, Iqra Ghulam, Zahoor, Muhammad Yasir, Kraus, Cornelia, Reis, André, Iqbal, Muhammad, Uguen, Kevin, Audebert-Bellanger, Severine, Ferec, Claude, Redon, Sylvia, Baker, Janice, Wu, Yunhong, Zampino, Guiseppe, Syrbe, Steffan, Brosse, Ines, Jamra, Rami Abou, Dobyns, William B., Cohen, Lilian L., Blomhoff, Anne, Mignot, Cyril, Keren, Boris, Courtin, Thomas, Agrawal, Pankaj B., Beggs, Alan H., Yu, Timothy W.
Published in Genetics in medicine (01.06.2021)
Published in Genetics in medicine (01.06.2021)
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Journal Article
Congenital Heart Defects Due to TAF1 Missense Variants
Morton, Sarah U, Agarwal, Radhika, Madden, Jill A, Genetti, Casie A, Brownstein, Catherine A, López-Giráldez, Francesc, Choi, Jungmin, Seidman, Christine E, Seidman, Jonathan G, Lyon, Gholson J, Agrawal, Pankaj B
Published in Circulation. Genomic and precision medicine (01.06.2020)
Published in Circulation. Genomic and precision medicine (01.06.2020)
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Journal Article
Gluon fusion contribution to HBB ( B = H , γ , Z ) at the LHC
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Journal Article
Conference Proceeding
Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability
Li, Lin, Ghorbani, Mohammad, Weisz-Hubshman, Monika, Rousseau, Justine, Thiffault, Isabelle, Schnur, Rhonda E, Breen, Catherine, Oegema, Renske, Weiss, Marjan Mm, Waisfisz, Quinten, Welner, Sara, Kingston, Helen, Hills, Jordan A, Boon, Elles Mj, Basel-Salmon, Lina, Konen, Osnat, Goldberg-Stern, Hadassa, Bazak, Lily, Tzur, Shay, Jin, Jianliang, Bi, Xiuli, Bruccoleri, Michael, McWalter, Kirsty, Cho, Megan T, Scarano, Maria, Schaefer, G Bradley, Brooks, Susan S, Hughes, Susan Starling, van Gassen, K L I, van Hagen, Johanna M, Pandita, Tej K, Agrawal, Pankaj B, Campeau, Philippe M, Yang, Xiang-Jiao
Published in The Journal of clinical investigation (01.03.2020)
Published in The Journal of clinical investigation (01.03.2020)
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Journal Article
Effect of hypothyroidism on female reproductive hormones
Saran, Sanjay, Gupta, Bharti, Philip, Rajeev, Singh, Kumar, Bende, Sureshrao, Agroiya, Puspalata, Agrawal, Pankaj
Published in Indian journal of endocrinology and metabolism (01.01.2016)
Published in Indian journal of endocrinology and metabolism (01.01.2016)
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Journal Article
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
Gracia-Diaz, Carolina, Zhou, Yijing, Yang, Qian, Maroofian, Reza, Espana-Bonilla, Paula, Lee, Chul-Hwan, Zhang, Shuo, Padilla, Natàlia, Fueyo, Raquel, Waxman, Elisa A, Lei, Sunyimeng, Otrimski, Garrett, Li, Dong, Sheppard, Sarah E, Mark, Paul, Harr, Margaret H, Hakonarson, Hakon, Rodan, Lance, Jackson, Adam, Vasudevan, Pradeep, Powel, Corrina, Mohammed, Shehla, Maddirevula, Sateesh, Alzaidan, Hamad, Faqeih, Eissa A, Efthymiou, Stephanie, Turchetti, Valentina, Rahman, Fatima, Maqbool, Shazia, Salpietro, Vincenzo, Ibrahim, Shahnaz H, di Rosa, Gabriella, Houlden, Henry, Alharbi, Maha Nasser, Al-Sannaa, Nouriya Abbas, Bauer, Peter, Zifarelli, Giovanni, Estaras, Conchi, Hurst, Anna C E, Thompson, Michelle L, Chassevent, Anna, Smith-Hicks, Constance L, de la Cruz, Xavier, Holtz, Alexander M, Elloumi, Houda Zghal, Hajianpour, M J, Rieubland, Claudine, Braun, Dominique, Banka, Siddharth, French, Deborah L, Heller, Elizabeth A, Saade, Murielle, Song, Hongjun, Ming, Guo-Li, Alkuraya, Fowzan S, Agrawal, Pankaj B, Reinberg, Danny, Bhoj, Elizabeth J, Martínez-Balbás, Marian A, Akizu, Naiara
Published in Nature communications (11.07.2023)
Published in Nature communications (11.07.2023)
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Journal Article
De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome
Torres, Alcy, Brownstein, Catherine A., Tembulkar, Sahil K., Graber, Kelsey, Genetti, Casie, Kleiman, Robin J., Sweadner, Kathleen J., Mavros, Chrystal, Liu, Kevin X., Smedemark-Margulies, Niklas, Maski, Kiran, Yang, Edward, Agrawal, Pankaj B., Shi, Jiahai, Beggs, Alan H., D'Angelo, Eugene, Lincoln, Sarah Hope, Carroll, Devon, Dedeoglu, Fatma, Gahl, William A., Biggs, Catherine M., Swoboda, Kathryn J., Berry, Gerard T., Gonzalez-Heydrich, Joseph
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
Heterogeneity of nemaline myopathy cases with skeletal muscle α-actin gene mutations
Agrawal, Pankaj B., Strickland, Corinne D., Midgett, Charles, Morales, Ana, Newburger, Daniel E., Poulos, Melisa A., Tomczak, Kinga K., Ryan, Monique M., Iannaccone, Susan T., Crawford, Tom O., Laing, Nigel G., Beggs, Alan H.
Published in Annals of neurology (01.07.2004)
Published in Annals of neurology (01.07.2004)
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A de novo T73I Mutation in PTPN11 in a Neonate with Severe and Prolonged Congenital Thrombocytopenia and Noonan Syndrome
Christensen, Robert D., Yaish, Hassan M., Leon, Eyby L., Sola-Visner, Martha C., Agrawal, Pankaj B.
Published in Neonatology (Basel, Switzerland) (01.07.2013)
Published in Neonatology (Basel, Switzerland) (01.07.2013)
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Journal Article
FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation
Milko, Laura V, Chen, Flavia, Chan, Kee, Brower, Amy M, Agrawal, Pankaj B, Beggs, Alan H, Berg, Jonathan S, Brenner, Steven E, Holm, Ingrid A, Koenig, Barbara A, Parad, Richard B, Powell, Cynthia M, Kingsmore, Stephen F
Published in Npj genomic medicine (10.12.2019)
Published in Npj genomic medicine (10.12.2019)
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Journal Article
Evaluation of Immunostimulatory Potential of Branded and US-Generic Enoxaparins in an In Vitro Human Immune System Model
Luna, Ernesto, Agrawal, Pankaj, Mehta, Riyaz, Vernhes, Charlotte, Viskov, Christian, Amiral, Jean, Warren, William L., Drake, Donald R.
Published in Clinical and applied thrombosis/hemostasis (01.04.2015)
Published in Clinical and applied thrombosis/hemostasis (01.04.2015)
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Journal Article
Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report
Murry, Jaclyn B, Machini, Kalotina, Ceyhan-Birsoy, Ozge, Kritzer, Amy, Krier, Joel B, Lebo, Matthew S, Fayer, Shawn, Genetti, Casie A, VanNoy, Grace E, Yu, Timothy W, Agrawal, Pankaj B, Parad, Richard B, Holm, Ingrid A, McGuire, Amy L, Green, Robert C, Beggs, Alan H, Rehm, Heidi L
Published in Cold Spring Harbor molecular case studies (01.08.2018)
Published in Cold Spring Harbor molecular case studies (01.08.2018)
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