Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics
Palmquist, Rachel, Jenkins, Sabrina Malone, Bentley, Dawn, Miller, Christine, Mao, Rong, Meibos, Bailey, Bayrak-Toydemir, Pinar, Tvrdik, Tatiana, Nadauld, Lincoln D, Bleyl, Steven B, Chowdhury, Shimul, Ostrander, Betsy, Flores-Daboub, Josue, Longo, Nicola, Tristani-Firouzi, Martin, Hobbs, Charlotte, Bonkowsky, Joshua L, Brunelli, Luca
Published in Pediatric research (01.11.2022)
Published in Pediatric research (01.11.2022)
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Shared Segment Analysis and Next-Generation Sequencing Implicates the Retinoic Acid Signaling Pathway in Total Anomalous Pulmonary Venous Return (TAPVR)
Nash, Dustin, Arrington, Cammon B, Kennedy, Brett J, Yandell, Mark, Wu, Wilfred, Zhang, Wenying, Ware, Stephanie, Jorde, Lynn B, Gruber, Peter J, Yost, H Joseph, Bowles, Neil E, Bleyl, Steven B
Published in PloS one (29.06.2015)
Published in PloS one (29.06.2015)
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Interoperable genetic lab test reports: mapping key data elements to HL7 FHIR specifications and professional reporting guidelines
Khalifa, Aly, Mason, Clinton C, Garvin, Jennifer Hornung, Williams, Marc S, Del Fiol, Guilherme, Jackson, Brian R, Bleyl, Steven B, Alterovitz, Gil, Huff, Stanley M
Published in Journal of the American Medical Informatics Association : JAMIA (25.11.2021)
Published in Journal of the American Medical Informatics Association : JAMIA (25.11.2021)
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Myocardial overexpression of ANKRD1 causes sinus venosus defects and progressive diastolic dysfunction
Piroddi, Nicoletta, Pesce, Paola, Scellini, Beatrice, Manzini, Stefano, Ganzetti, Giulia S, Badi, Ileana, Menegollo, Michela, Cora, Virginia, Tiso, Simone, Cinquetti, Raffaella, Monti, Laura, Chiesa, Giulia, Bleyl, Steven B, Busnelli, Marco, Dellera, Federica, Bruno, Daniele, Caicci, Federico, Grimaldi, Annalisa, Taramelli, Roberto, Manni, Lucia, Sacerdoti, David, Tesi, Chiara, Poggesi, Corrado, Ausoni, Simonetta, Acquati, Francesco, Campione, Marina
Published in Cardiovascular research (01.07.2020)
Published in Cardiovascular research (01.07.2020)
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Expanding the genetic and clinical spectrum of the NONO‐associated X‐linked intellectual disability syndrome
Carlston, Colleen M., Bleyl, Steven B., Andrews, Ashley, Meyers, Lindsay, Brown, Sara, Bayrak‐Toydemir, Pinar, Bale, James F., Botto, Lorenzo D.
Published in American journal of medical genetics. Part A (01.05.2019)
Published in American journal of medical genetics. Part A (01.05.2019)
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Journal Article
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study
Haverfield, Eden V, Esplin, Edward D, Aguilar, Sienna J, Hatchell, Kathryn E, Ormond, Kelly E, Hanson-Kahn, Andrea, Atwal, Paldeep S, Macklin-Mantia, Sarah, Hines, Stephanie, Sak, Caron W.-M, Tucker, Steven, Bleyl, Steven B, Hulick, Peter J, Gordon, Ora K, Velsher, Lea, Gu, Jessica Y. J, Weissman, Scott M, Kruisselbrink, Teresa, Abel, Christopher, Kettles, Michele, Slavotinek, Anne, Mendelsohn, Bryce A, Green, Robert C, Aradhya, Swaroop, Nussbaum, Robert L
Published in BMC medicine (18.08.2021)
Published in BMC medicine (18.08.2021)
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A qualitative study of prevalent laboratory information systems and data communication patterns for genetic test reporting
Khalifa, Aly, Mason, Clinton C, Garvin, Jennifer Hornung, Williams, Marc S, Del Fiol, Guilherme, Jackson, Brian R, Bleyl, Steven B, Huff, Stanley M
Published in Genetics in medicine (01.11.2021)
Published in Genetics in medicine (01.11.2021)
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Journal Article
Progressive Aortic Dilation Associated With ACTA2 Mutations Presenting in Infancy
Yetman, Anji T, Starr, Lois J, Bleyl, Steven B, Meyers, Lindsay, Delaney, Jeffrey W
Published in Pediatrics (Evanston) (01.07.2015)
Published in Pediatrics (Evanston) (01.07.2015)
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Journal Article
Clinicopathologic comparison of familial versus sporadic atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system
Bruggers, Carol S., Bleyl, Steven B., Pysher, Theodore, Barnette, Philip, Afify, Zeinab, Walker, Marion, Biegel, Jaclyn A.
Published in Pediatric blood & cancer (01.07.2011)
Published in Pediatric blood & cancer (01.07.2011)
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A qualitative investigation of biomedical informatics interoperability standards for genetic test reporting: benefits, challenges, and motivations from the testing laboratory's perspective
Khalifa, Aly, Mason, Clinton C, Garvin, Jennifer Hornung, Williams, Marc S, Del Fiol, Guilherme, Jackson, Brian R, Bleyl, Steven B, Huff, Stanley M
Published in Genetics in medicine (01.11.2021)
Published in Genetics in medicine (01.11.2021)
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Journal Article
Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy
Wooderchak-Donahue, Whitney, VanSant-Webb, Chad, Tvrdik, Tatiana, Plant, Parker, Lewis, Tracey, Stocks, Jennifer, Raney, Joshua A., Meyers, Lindsay, Berg, Alizabeth, Rope, Alan F., Yetman, Anji T., Bleyl, Steven B., Mesley, Rebecca, Bull, David A., Collins, R. Thomas, Ojeda, Mayra Martinez, Roberts, Amy, Lacro, Ronald, Woerner, Audrey, Stoler, Joan, Bayrak-Toydemir, Pinar
Published in American journal of medical genetics. Part A (01.08.2015)
Published in American journal of medical genetics. Part A (01.08.2015)
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Journal Article
Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study
Haverfield, Eden V, Esplin, Edward D, Aguilar, Sienna J, Hatchell, Kathryn E, Ormond, Kelly E, Hanson-Kahn, Andrea, Atwal, Paldeep S, Macklin-Mantia, Sarah, Hines, Stephanie, Sak, Caron W.-M, Tucker, Steven, Bleyl, Steven B, Hulick, Peter J, Gordon, Ora K, Velsher, Lea, Gu, Jessica Y. J, Weissman, Scott M, Kruisselbrink, Teresa, Abel, Christopher, Kettles, Michele, Slavotinek, Anne, Mendelsohn, Bryce A, Green, Robert C, Aradhya, Swaroop, Nussbaum, Robert L
Published in BMC medicine (03.11.2021)
Published in BMC medicine (03.11.2021)
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Journal Article
Use of Extracorporeal Membrane Oxygenation and Mortality in Pediatric Cardiac Surgery Patients With Genetic Conditions: A Multicenter Analysis
Furlong-Dillard, Jamie M, Amula, Venugopal, Bailly, David K, Bleyl, Steven B, Wilkes, Jacob, Bratton, Susan L
Published in Pediatric critical care medicine (01.09.2017)
Published in Pediatric critical care medicine (01.09.2017)
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Redundant and dosage sensitive requirements for Fgf3 and Fgf10 in cardiovascular development
Urness, Lisa D., Bleyl, Steven B., Wright, Tracy J., Moon, Anne M., Mansour, Suzanne L.
Published in Developmental biology (15.08.2011)
Published in Developmental biology (15.08.2011)
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Journal Article
Dysregulation of the PDGFRA gene causes inflow tract anomalies including TAPVR: integrating evidence from human genetics and model organisms
Bleyl, Steven B., Saijoh, Yukio, Bax, Noortje A.M., Gittenberger-de Groot, Adriana C., Wisse, Lambertus J., Chapman, Susan C., Hunter, Jennifer, Shiratori, Hidetaka, Hamada, Hiroshi, Yamada, Shigehito, Shiota, Kohei, Klewer, Scott E., Leppert, Mark F., Schoenwolf, Gary C.
Published in Human molecular genetics (01.04.2010)
Published in Human molecular genetics (01.04.2010)
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Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants
Brunelli, Luca, Jenkins, Sabrina M., Gudgeon, James M., Bleyl, Steven B., Miller, Christine E., Tvrdik, Tatiana, Dames, Shale A., Ostrander, Betsy, Daboub, Josue A. F., Zielinski, Brandon A., Zinkhan, Erin K., Underhill, Hunter R., Wilson, Theodore, Bonkowsky, Joshua L., Yost, Christian C., Botto, Lorenzo D., Jenkins, Justin, Pysher, Theodore J., Bayrak‐Toydemir, Pinar, Mao, Rong
Published in Molecular genetics & genomic medicine (01.07.2019)
Published in Molecular genetics & genomic medicine (01.07.2019)
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Journal Article
DMD mutation and LTBP4 haplotype do not predict onset of left ventricular dysfunction in Duchenne muscular dystrophy
Van Dorn, Charlotte S., Puchalski, Michael D., Weng, Hsin-Yi, Bleyl, Steven B., Butterfield, Russell J., Williams, Richard V.
Published in Cardiology in the young (01.07.2018)
Published in Cardiology in the young (01.07.2018)
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P714: Genome screening of newborns: Sequencing is easy, assessing the clinical utility of genomic findings uncovered in asymptomatic children is challenging
Balciuniene, Jorune, Liu, Ruby, Bean, Lora, Reddy Nallamilli, Babi Ramesh, Guruju, Naga, Chen-Deutsch, Xiangwen, Yousaf, Rizwan, Fura, Kristina, Chin, Eprem, Mathur, Abhinav, Ma, Zeqiang, Carmichael, Jonathan, Collins, Christin, da Silva, Cristina, Kirmse, Brian, Bleyl, Steven, Hegde, Madhuri
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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