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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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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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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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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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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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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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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Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks
Longoni, Mauro, Lage, Kasper, Russell, Meaghan K., Loscertales, Maria, Abdul-Rahman, Omar A., Baynam, Gareth, Bleyl, Steven B., Brady, Paul D., Breckpot, Jeroen, Chen, Chih P., Devriendt, Koenraad, Gillessen-Kaesbach, Gabriele, Grix, Arthur W., Rope, Alan F., Shimokawa, Osamu, Strauss, Bernarda, Wieczorek, Dagmar, Zackai, Elaine H., Coletti, Caroline M., Maalouf, Faouzi I., Noonan, Kristin M., Park, Ji H., Tracy, Adam A., Lee, Charles, Donahoe, Patricia K., Pober, Barbara R.
Published in American journal of medical genetics. Part A (01.12.2012)
Published in American journal of medical genetics. Part A (01.12.2012)
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Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development
BHOJ, Elizabeth J, RAMOS, Purita, VANHOUTTEGHEM, Amandine, DJIAN, Philippe, ZINN, Andrew R, BAKER, Linda A, COST, Nicholas, NORDENSKJÖLD, Agneta, ELDER, Frederick F, BLEYL, Steven B, BOWLES, Neil E, ARRINGTON, Cammon B, DELHOMME, Brigitte
Published in European journal of human genetics : EJHG (01.05.2011)
Published in European journal of human genetics : EJHG (01.05.2011)
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Platelet‐derived growth factor is involved in the differentiation of second heart field‐derived cardiac structures in chicken embryos
Bax, Noortje A.M., Lie‐Venema, Heleen, Vicente‐Steijn, Rebecca, Bleyl, Steven B., Van Den Akker, Nynke M.S., Maas, Saskia, Poelmann, Robert E., Gittenberger‐de Groot, Adriana C.
Published in Developmental dynamics (01.10.2009)
Published in Developmental dynamics (01.10.2009)
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A rapid gene sequencing panel strategy to facilitate precision neonatal medicine
Brunelli, Luca, Mao, Rong, Jenkins, Sabrina Malone, Bleyl, Steven B, Dames, Shale A, Miller, Christine E, Ostrander, Betsy, Tvrdik, Tatiana, Andrews, Seth, Flores, Josue, Patel, Shrena, Gudgeon, James M, Schaefer, Susan
Published in American journal of medical genetics. Part A (01.07.2017)
Published in American journal of medical genetics. Part A (01.07.2017)
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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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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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Rationale for the Cytogenomics of Cardiovascular Malformations Consortium: A Phenotype Intensive Registry Based Approach
Hinton, Robert B, McBride, Kim L, Bleyl, Steven B, Bowles, Neil E, Border, William L, Garg, Vidu, Smolarek, Teresa A, Lalani, Seema R, Ware, Stephanie M
Published in Journal of cardiovascular development and disease (29.04.2015)
Published in Journal of cardiovascular development and disease (29.04.2015)
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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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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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