Search Results - "Salz, Lisa"

Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation by Ng, Andrew, Galosi, Serena, Salz, Lisa, Wong, Terence, Schwager, Caitlin, Amudhavalli, Shivarajan, Gelineau-Morel, Rose, Chowdhury, Shimul, Friedman, Jennifer

“…Abstract Background KMT2B -related dystonia is a recently described form of childhood onset dystonia that may improve with deep brain stimulation. Prior…”
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Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting by Thompson, Lauren, Larson, Austin, Salz, Lisa, Veith, Regan, Tsai, John-Paul, Jayakar, Anuj, Chapman, Rachel, Gupta, Apeksha, Kingsmore, Stephen F, Dimmock, David, Bedrick, Alan, Galindo, Maureen Kelly, Casas, Kari, Mohamed, Mohamed, Straight, Lisa, Khan, M Akram, Salyakina, Daria

“…Multi-center implementation of rapid whole genome sequencing with assessment of the clinical utility of rapid whole genome sequencing (rWGS), including…”
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A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants by Kingsmore, Stephen F., Cakici, Julie A., Clark, Michelle M., Gaughran, Mary, Feddock, Michele, Batalov, Sergey, Bainbridge, Matthew N., Carroll, Jeanne, Caylor, Sara A., Clarke, Christina, Ding, Yan, Ellsworth, Katarzyna, Farnaes, Lauge, Hildreth, Amber, Hobbs, Charlotte, James, Kiely, Kint, Cyrielle I., Lenberg, Jerica, Nahas, Shareef, Prince, Lance, Reyes, Iris, Salz, Lisa, Sanford, Erica, Schols, Peter, Sweeney, Nathaly, Tokita, Mari, Veeraraghavan, Narayanan, Watkins, Kelly, Wigby, Kristen, Wong, Terence, Chowdhury, Shimul, Wright, Meredith S., Dimmock, David, Bezares, Zaira, Bloss, Cinnamon, Braun, Joshua J.A., Diaz, Carlos, Mashburn, Dana, Tamang, Dorjee, Orendain, Daniken, Friedman, Jenni, Gleeson, Joe, Barea, Jaime, Chiang, George, Cohenmeyer, Casey, Coufal, Nicole G., Evans, Marva, Honold, Jose, Hovey, Raymond L., Kimball, Amy, Lane, Brian, Le, Crystal, Le, Jennie, Leibel, Sandra, Moyer, Laurel, Mulrooney, Patrick, Oh, Daeheon, Ordonez, Paulina, Oriol, Albert, Ortiz-Arechiga, Maria, Puckett, Laura, Speziale, Mark, Suttner, Denise, Van Der Kraan, Lucitia, Knight, Gail, Sauer, Charles, Song, Richard, White, Sarah, Wise, Audra, Yamada, Catherine

“…The second Newborn Sequencing in Genomic Medicine and Public Health study was a randomized, controlled trial of the effectiveness of rapid whole-genome or…”
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Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation by Clark, Michelle M, Hildreth, Amber, Batalov, Sergey, Ding, Yan, Chowdhury, Shimul, Watkins, Kelly, Ellsworth, Katarzyna, Camp, Brandon, Kint, Cyrielle I, Yacoubian, Calum, Farnaes, Lauge, Bainbridge, Matthew N, Beebe, Curtis, Braun, Joshua J A, Bray, Margaret, Carroll, Jeanne, Cakici, Julie A, Caylor, Sara A, Clarke, Christina, Creed, Mitchell P, Friedman, Jennifer, Frith, Alison, Gain, Richard, Gaughran, Mary, George, Shauna, Gilmer, Sheldon, Gleeson, Joseph, Gore, Jeremy, Grunenwald, Haiying, Hovey, Raymond L, Janes, Marie L, Lin, Kejia, McDonagh, Paul D, McBride, Kyle, Mulrooney, Patrick, Nahas, Shareef, Oh, Daeheon, Oriol, Albert, Puckett, Laura, Rady, Zia, Reese, Martin G, Ryu, Julie, Salz, Lisa, Sanford, Erica, Stewart, Lawrence, Sweeney, Nathaly, Tokita, Mari, Van Der Kraan, Luca, White, Sarah, Wigby, Kristen, Williams, Brett, Wong, Terence, Wright, Meredith S, Yamada, Catherine, Schols, Peter, Reynders, John, Hall, Kevin, Dimmock, David, Veeraraghavan, Narayanan, Defay, Thomas, Kingsmore, Stephen F

“…By informing timely targeted treatments, rapid whole-genome sequencing can improve the outcomes of seriously ill children with genetic diseases, particularly…”
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An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm by Dimmock, David P, Clark, Michelle M, Gaughran, Mary, Cakici, Julie A, Caylor, Sara A, Clarke, Christina, Feddock, Michele, Chowdhury, Shimul, Salz, Lisa, Cheung, Cynthia, Bird, Lynne M, Hobbs, Charlotte, Wigby, Kristen, Farnaes, Lauge, Bloss, Cinnamon S, Kingsmore, Stephen F

“…The second Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT2) study was a randomized, controlled trial of rapid whole-genome sequencing (rWGS)…”
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25: A MULTICENTER COHORT ANALYSIS OF RAPID GENOME SEQUENCING IN THE PICU by Rodriguez, Katherine, Kobayashi, Erica Sanford, VanDongen-Trimmer, Heather, Salz, Lisa, Foley, Jennifer, Whalen, Drewann, Oluchukwu, Okonkwo, Liu, Kuang Chuen, Burton, Jennifer, Syngal, Prachi, Kingsmore, Stephen, Coufal, Nicole

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OP020: Demonstrating the value of genome sequencing in a pediatric neurology cohort: A successful partnership between a patient organization and industry by Snyder, Holly, Salz, Lisa, Cohen, Julie, Hughes, Inna, Park, Kristen, Helbig, Katherine, Koehn, Monica, Patel, Anup, Poduri, Annapurna, Schmidt, Sarah

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Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU by Sanford, Erica F, Clark, Michelle M, Farnaes, Lauge, Williams, Matthew R, Perry, James C, Ingulli, Elizabeth G, Sweeney, Nathaly M, Doshi, Ami, Gold, Jeffrey J, Briggs, Benjamin, Bainbridge, Matthew N, Feddock, Michele, Watkins, Kelly, Chowdhury, Shimul, Nahas, Shareef A, Dimmock, David P, Kingsmore, Stephen F, Coufal, Nicole G

“…Genetic disorders are a leading contributor to mortality in the neonatal ICU and PICU in the United States. Although individually rare, there are over 6,200…”
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KMT2B early childhood onset dystonia presenting as failure to thrive (P4.6-034) by Ng, Andrew, Galosi, Serena, Salz, Lisa, Wong, Terence, Investigators, RCIGM, Chowdhury, Shimul, Friedman, Jennifer

“…Abstract only…”
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Rapid Whole-Genome Sequencing and Clinical Management in the PICU: A Multicenter Cohort, 2016-2023 by Rodriguez, Katherine M, Vaught, Jordan, Salz, Lisa, Foley, Jennifer, Boulil, Zaineb, Van Dongen-Trimmer, Heather M, Whalen, Drewann, Oluchukwu, Okonkwo, Liu, Kuang Chuen, Burton, Jennifer, Syngal, Prachi, Vargas-Shiraishi, Ofelia, Kingsmore, Stephen F, Sanford Kobayashi, Erica, Coufal, Nicole G

“…Analysis of the clinical utility of rapid whole-genome sequencing (rWGS) outside of the neonatal period is lacking. We describe the use of rWGS in PICU and…”
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Moving Genomics to Routine Care: An Initial Pilot in Acute Cardiovascular Disease by Aryan, Zahra, Szanto, Attila, Pantazi, Angeliki, Reddi, Tejaswini, Rheinstein, Carolyn, Powers, Winslow, Wilson, Evan, Deo, Rahul C., Chowdhury, Shimul, Salz, Lisa, Dimmock, David, Nahas, Shareef, Benson, Wendy, Kingsmore, Stephen F., MacRae, Calum A., Vuzman, Dana

“…Whole-genome sequencing (WGS) costs are falling, yet, outside oncology, this information is seldom used in adult clinics. We piloted a rapid WGS (rWGS)…”
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A study of Southwestern migrant women of the 1930s and 1940s by Salz, Lisa Riggin

“…This study is about the journey of Southwestern migrant women of the Dust Bowl era as they uprooted from their tenant farms and proceeded to migrant camps and…”
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Safety and efficacy of an orally active selective endothelin—A receptor antagonist in moderate-severe human chronic heart failure by Chen, Horng H., Salz, Lisa M., McKinley, Linda J., Olson, Lyle J., Borgeson, Daniel D., Zborowski, J., Yang, Fred, Padley, Robert J., Chapman, Douglas, Burnett, John C.

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Ventricular adrenomedullin is associated with myocyte hypertrophy in human transplanted heart by Tsuruda, Toshihiro, Jougasaki, Michihisa, Boerrigter, Guido, Costello-Boerrigter, Lisa C., Cataliotti, Alessandro, Lee, Shang C., Salz-Gilman, Lisa, Nordstrom, Lynda J., McGregor, Christopher G.A., Burnett, John C.

“…Adrenomedullin (ADM) is a vasoactive and natriuretic peptide. While it is known that ADM is increased in failing human ventricles, the expression of ADM in…”
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Ventricular adrenomedullin is associated with myocyte hypertrophy in human transplanted heart: Adrenomedullin by TSUMDA, Toshihiro, JOUGASAKI, Michihisa, BOERRIGTER, Guido, COSTELLO-BOERFIGTER, Lisa C, CATALIOTTI, Alessandro, LEE, Shang C, SALZ-GILMAN, Lisa, NORDSTROM, Lynda J, MCGREGOR, Christopher G. A, BURNETT, John C

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