Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care
Dimmock, David, Caylor, Sara, Waldman, Bryce, Benson, Wendy, Ashburner, Christina, Carmichael, Jason L., Carroll, Jeanne, Cham, Elaine, Chowdhury, Shimul, Cleary, John, D’Harlingue, Arthur, Doshi, A., Ellsworth, Katarzyna, Galarreta, Carolina I., Hobbs, Charlotte, Houtchens, Kathleen, Hunt, Juliette, Joe, Priscilla, Joseph, Maries, Kaplan, Robert H., Kingsmore, Stephen F., Knight, Jason, Kochhar, Aaina, Kronick, Richard G., Limon, Jolie, Martin, Madelena, Rauen, Katherine A., Schwarz, Adam, Shankar, Suma P., Spicer, Rosanna, Rojas, Mario Augusto, Vargas-Shiraishi, Ofelia, Wigby, Kristen, Zadeh, Neda, Farnaes, Lauge
Published in American journal of human genetics (01.07.2021)
Published in American journal of human genetics (01.07.2021)
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Journal Article
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study
Hughes, Derralynn A, Nicholls, Kathleen, Shankar, Suma P, Sunder-Plassmann, Gere, Koeller, David, Nedd, Khan, Vockley, Gerard, Hamazaki, Takashi, Lachmann, Robin, Ohashi, Toya, Olivotto, Iacopo, Sakai, Norio, Deegan, Patrick, Dimmock, David, Eyskens, François, Germain, Dominique P, Goker-Alpan, Ozlem, Hachulla, Eric, Jovanovic, Ana, Lourenco, Charles M, Narita, Ichiei, Thomas, Mark, Wilcox, William R, Bichet, Daniel G, Schiffmann, Raphael, Ludington, Elizabeth, Viereck, Christopher, Kirk, John, Yu, Julie, Johnson, Franklin, Boudes, Pol, Benjamin, Elfrida R, Lockhart, David J, Barlow, Carrolee, Skuban, Nina, Castelli, Jeffrey P, Barth, Jay, Feldt-Rasmussen, Ulla
Published in Journal of medical genetics (01.04.2017)
Published in Journal of medical genetics (01.04.2017)
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Journal Article
Costello syndrome: Clinical phenotype, genotype, and management guidelines
Gripp, Karen W., Morse, Lindsey A., Axelrad, Marni, Chatfield, Kathryn C., Chidekel, Aaron, Dobyns, William, Doyle, Daniel, Kerr, Bronwyn, Lin, Angela E., Schwartz, David D., Sibbles, Barbara J., Siegel, Dawn, Shankar, Suma P., Stevenson, David A., Thacker, Mihir M., Weaver, K. Nicole, White, Sue M., Rauen, Katherine A.
Published in American journal of medical genetics. Part A (01.09.2019)
Published in American journal of medical genetics. Part A (01.09.2019)
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Journal Article
Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat
Germain, Dominique P, Hughes, Derralynn A, Nicholls, Kathleen, Bichet, Daniel G, Giugliani, Roberto, Wilcox, William R, Feliciani, Claudio, Shankar, Suma P, Ezgu, Fatih, Amartino, Hernan, Bratkovic, Drago, Feldt-Rasmussen, Ulla, Nedd, Khan, Sharaf El Din, Usama, Lourenco, Charles M, Banikazemi, Maryam, Charrow, Joel, Dasouki, Majed, Finegold, David, Giraldo, Pilar, Goker-Alpan, Ozlem, Longo, Nicola, Scott, C. Ronald, Torra, Roser, Tuffaha, Ahmad, Jovanovic, Ana, Waldek, Stephen, Packman, Seymour, Ludington, Elizabeth, Viereck, Christopher, Kirk, John, Yu, Julie, Benjamin, Elfrida R, Johnson, Franklin, Lockhart, David J, Skuban, Nina, Castelli, Jeff, Barth, Jay, Barlow, Carrolee, Schiffmann, Raphael
Published in The New England journal of medicine (11.08.2016)
Published in The New England journal of medicine (11.08.2016)
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Journal Article
Reproducibility and Intervendor Agreement of Left Ventricular Global Systolic Strain in Children Using a Layer-Specific Analysis
Ramlogan, Sandhya, Aly, Doaa, France, Rita, Schmidt, Stephanie, Hinzman, Julie, Sherman, Ashley, Goudar, Suma P., Forsha, Daniel
Published in Journal of the American Society of Echocardiography (01.01.2020)
Published in Journal of the American Society of Echocardiography (01.01.2020)
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Journal Article
Morphological changes in epoxy resin (DGEBA/TETA) exposed to low temperatures
Suma Sindhu, P., Ghindani, Dipa, Mitra, Nilanjan, Prabhu, Shriganesh S.
Published in Journal of adhesion science and technology (17.10.2020)
Published in Journal of adhesion science and technology (17.10.2020)
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Journal Article
Outcomes after 18 months of eliglustat therapy in treatment‐naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial
Mistry, Pramod K., Lukina, Elena, Ben Turkia, Hadhami, Shankar, Suma P., Baris, Hagit, Ghosn, Marwan, Mehta, Atul, Packman, Seymour, Pastores, Gregory, Petakov, Milan, Assouline, Sarit, Balwani, Manisha, Danda, Sumita, Hadjiev, Evgueniy, Ortega, Andres, Gaemers, Sebastiaan J. M., Tayag, Regina, Peterschmitt, M. Judith
Published in American journal of hematology (01.11.2017)
Published in American journal of hematology (01.11.2017)
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Journal Article
Intervendor Agreement for Right Ventricular Global Longitudinal Strain in Children
Aly, Doaa, Ramlogan, Sandhya, France, Rita, Schmidt, Stephanie, Hinzman, Julie, Sherman, Ashley, Goudar, Suma P., Forsha, Daniel
Published in Journal of the American Society of Echocardiography (01.07.2021)
Published in Journal of the American Society of Echocardiography (01.07.2021)
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Journal Article
Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results
Mistry, Pramod K., Lukina, Elena, Ben Turkia, Hadhami, Shankar, Suma P., Feldman, Hagit, Ghosn, Marwan, Mehta, Atul, Packman, Seymour, Lau, Heather, Petakov, Milan, Assouline, Sarit, Balwani, Manisha, Danda, Sumita, Hadjiev, Evgueniy, Ortega, Andres, Foster, Meredith C., Gaemers, Sebastiaan J. M., Peterschmitt, M. Judith
Published in American journal of hematology (01.09.2021)
Published in American journal of hematology (01.09.2021)
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Journal Article
Effectiveness of a novel insect-repellent food packaging incorporating essential oils against the red flour beetle (Tribolium castaneum)
Licciardello, F., Muratore, G., Suma, P., Russo, A., Nerín, C.
Published in Innovative food science & emerging technologies (01.07.2013)
Published in Innovative food science & emerging technologies (01.07.2013)
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Journal Article
Fragile X syndrome in a girl with variant Turner syndrome and an isodicentric X chromosome
Tassanakijpanich, Nattaporn, Wright, Rachel, Tassone, Flora, Shankar, Suma P, Hagerman, Randi
Published in BMJ case reports (26.07.2022)
Published in BMJ case reports (26.07.2022)
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Journal Article
Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial
Wijburg, Frits A, Bénichou, Bernard, Bichet, Daniel G, Clarke, Lorne A, Dostalova, Gabriela, Fainboim, Alejandro, Fellgiebel, Andreas, Forcelini, Cassiano, An Haack, Kristina, Hopkin, Robert J, Mauer, Michael, Najafian, Behzad, Scott, C Ronald, Shankar, Suma P, Thurberg, Beth L, Tøndel, Camilla, Tylki-Szymańska, Anna, Ramaswami, Uma
Published in PloS one (08.05.2015)
Published in PloS one (08.05.2015)
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Journal Article
Fabry disease in infancy and early childhood: a systematic literature review
Laney, Dawn A., Peck, Dawn S., Atherton, Andrea M., Manwaring, Linda P., Christensen, Katherine M., Shankar, Suma P., Grange, Dorothy K., Wilcox, William R., Hopkin, Robert J.
Published in Genetics in medicine (01.05.2015)
Published in Genetics in medicine (01.05.2015)
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Journal Article