StevenBenjaminBleylMD

PubMed

• 5 citations
  Interoperable genetic lab test reports: mapping key data elements to HL7 FHIR specifications and professional reporting guidelines.
  Aly Khalifa, Clinton C. Mason, Jennifer H. Garvin, Marc S. Williams, Guilherme Del Fiol, Brian R. Jackson, Steven B. Bleyl, Gil Alterovitz, Stanley M. Huff> ;Journal of the American Medical Informatics Association. 2021 Nov 25
• 1 citations
  A qualitative investigation of biomedical informatics interoperability standards for genetic test reporting: benefits, challenges, and motivations from the testing lab...
  Aly Khalifa, Clinton C. Mason, Jennifer H. Garvin, Marc S. Williams, Guilherme Del Fiol, Brian R. Jackson, Steven B. Bleyl, Stanley M. Huff> ;Genetics in Medicine. 2021 Aug 25
• 2 citations
  A qualitative study of prevalent laboratory information systems and data communication patterns for genetic test reporting
  Aly Khalifa, Clinton C. Mason, Jennifer H. Garvin, Marc S. Williams, Guilherme Del Fiol, Brian R. Jackson, Steven B. Bleyl, Stanley M. Huff> ;Genetics in Medicine. 2021 Jul 6
• 13 citations
  Myocardial overexpression of ANKRD1 causes sinus venosus defects and progressive diastolic dysfunction.
  Nicoletta Piroddi, Paola Pesce, Beatrice Scellini, Stefano Manzini, G.S. Ganzetti, Ileana Badi, Michela Menegollo, Virginia Cora, Simone Tiso, Raffaella Cinquetti, Lau...> ;Cardiovascular Research. 2020 Jul 1
• 28 citations
  Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants.
  Luca Brunelli, Sabrina Malone Jenkins, James M. Gudgeon, Steven B. Bleyl, Christine E. Miller, Tatiana Tvrdik, Shale Dames, Betsy Ostrander, Josue A. Flores Daboub, Br...> ;Molecular Genetics & Genomic Medicine. 2019 Jul 1
• 19 citations
  Expanding the genetic and clinical spectrum of the NONO-associated X-linked intellectual disability syndrome.
  Colleen M. Carlston, Steven B. Bleyl, Ashley Andrews, Lindsay Meyers, Sara Brown, Pinar Bayrak-Toydemir, James F. Bale, Lorenzo D. Botto> ;American Journal of Medical Genetics. Part A. 2019 May 1
• 10 citations
  Experience with Integrating Diagnostic Decision Support Software with Electronic Health Records: Benefits versus Risks of Information Sharing
  Michael M. Segal, Alanna Kulchak Rahm, Nathan C. Hulse, Grant M. Wood, Janet L. Williams, Lynn Feldman, Gregory J. Moore, David Gehrum, Michelle Yefko, Steven Mayernic...> ;EGEMS. 2017 Dec 6
• 6 citations
  DMD mutation and LTBP4 haplotype do not predict onset of left ventricular dysfunction in Duchenne muscular dystrophy.
  Charlotte S. Van Dorn, Michael D. Puchalski, Hsin Yi Weng, Steven B. Bleyl, Russell J. Butterfield, Richard V. Williams> ;Cardiology in the Young. 2018 May 16
• 16 citations
  Use of Extracorporeal Membrane Oxygenation and Mortality in Pediatric Cardiac Surgery Patients With Genetic Conditions: A Multicenter Analysis.
  Jamie Furlong-Dillard, Venugopal Amula, David K. Bailly, Steven B. Bleyl, Jacob Wilkes, Susan L. Bratton> ;Pediatric Critical Care Medicine. 2017 Sep 1
• 10 citations
  A rapid gene sequencing panel strategy to facilitate precision neonatal medicine.
  Luca Brunelli, Rong Mao, Sabrina Malone Jenkins, Steven B. Bleyl, Shale Dames, Christine E. Miller, Betsy Ostrander, Tatiana Tvrdik, Seth Andrews, Josue Flores, Shrena...> ;American Journal of Medical Genetics. Part A. 2017 May 12
• 22 citations
  Turner Syndrome in Girls Presenting with Coarctation of the Aorta.
  Aaron W. Eckhauser, Sarah T. South, Lindsay L. Meyers, Steven B. Bleyl, Lorenzo D. Botto> ;The Journal of Pediatrics. 2015 Nov 1
• 13 citations
  Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus.
  Neil E. Bowles, Chuanchau J. Jou, Cammon B. Arrington, Brett Kennedy, Aubree M. Earl, Norisada Matsunami, Lindsay Meyers, Susan P. Etheridge, Elizabeth V. Saarel, Stev...> ;American Journal of Medical Genetics. Part A. 2015 Dec 1
• 19 citations
  Progressive Aortic Dilation Associated With ACTA2 Mutations Presenting in Infancy.
  Anji T. Yetman, Lois J. Starr, Steven B. Bleyl, Lindsay Meyers, Jeffrey W. Delaney> ;Pediatrics. 2015 Jul 1
• 13 citations
  Shared Segment Analysis and Next-Generation Sequencing Implicates the Retinoic Acid Signaling Pathway in Total Anomalous Pulmonary Venous Return (TAPVR).
  Dustin Nash, Cammon B. Arrington, Brett Kennedy, Mark Yandell, Wilfred Wu, Wenying Zhang, Stephanie M. Ware, Lynn B. Jorde, Peter J. Gruber, H. Joseph Yost, Neil E. Bo...> ;Plos One. 2015 Jun 29
• 40 citations
  Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy
  Whitney Wooderchak-Donahue, Chad Vansant-Webb, Tatiana Tvrdik, Parker Plant, Tracey Lewis, Jennifer Stocks, Joshua A. Raney, Lindsay Meyers, Alizabeth E. Berg, Alan F....> ;American Journal of Medical Genetics. Part A. 2015 Aug 1
• 8 citations
  Rationale for the Cytogenomics of Cardiovascular Malformations Consortium: A Phenotype Intensive Registry Based Approach
  Robert B. Hinton, Kim L. McBride, Steven B. Bleyl, Neil E. Bowles, William L. Border, Vidu Garg, Teresa A. Smolarek, Seema R. Lalani, Stephanie M. Ware> ;Journal of Cardiovascular Development and Disease. 2015 Apr 29
• 23 citations
  Clinical Exome Sequencing Identifies a Novel TUBB4A Mutation in a Child with Static Hypomyelinating Leukodystrophy
  Shawn M. Purnell, Steven B. Bleyl, Joshua L. Bonkowsky> ;Pediatric Neurology. 2014 Jun 1
• 12 citations
  Phenotype of a patient with contiguous deletion of TBX5 and TBX3: Expanding the disease spectrum
  Soujanya Bogarapu, Steven B. Bleyl, Amy R. U. L. Calhoun, David Viskochil, Elizabeth V. Saarel, Melanie D. Everitt, Deborah U. Frank> ;American Journal of Medical Genetics. Part A. 2014 May 1
• 4 citations
  Family-based studies to identify genetic variants that cause congenital heart defects.
  Cammon B. Arrington, Steven B. Bleyl, Luca Brunelli, Neil E. Bowles> ;Future Cardiology. 2013 Jul 8
• 25 citations
  A family‐based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia
  Cammon B. Arrington, Steven B. Bleyl, Nori Matsunami, Neil E. Bowles, Tami Leppert, Bradley L. Demarest, Karen A. Osborne, Bradley A. Yoder, Janice L. B. Byrne, Joshua...> ;American Journal of Medical Genetics. Part A. 2012 Dec 1
• 38 citations
  Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks
  Mauro Longoni, Kasper Lage, Meaghan K. Russell, Maria Loscertales, Omar A. Abdul-Rahman, Gareth Baynam, Steven B. Bleyl, Paul Brady, Jeroen Breckpot, Chih P. Chen, Koe...> ;American Journal of Medical Genetics. Part A. 2012 Dec 1
• 47 citations
  Exome analysis of a family with pleiotropic congenital heart disease.
  Cammon B. Arrington, Steven B. Bleyl, Norisada Matsunami, Gabriel D. Bonnell, Brith Otterud, Douglas C. Nielsen, Jeff Stevens, Shawn Levy, Mark Leppert, Neil E. Bowles> ;Circulation. Cardiovascular Genetics. 2012 Apr 1
• 24 citations
  Non-synonymous variants in Pre B-cell leukemia homeobox (PBX) genes are associated with congenital heart defects
  Cammon B. Arrington, Benjamin R. Dowse, Steven B. Bleyl, Neil E. Bowles> ;European Journal of Medical Genetics. 2012 Apr 1
• 37 citations
  Redundant and dosage sensitive requirements for Fgf3 and Fgf10 in cardiovascular development.
  Lisa D. Urness, Steven B. Bleyl, Tracy J. Wright, Anne M. Moon, Suzanne L. Mansour> ;Developmental Biology. 2011 Aug 15
• 62 citations
  Clinicopathologic comparison of familial versus sporadic atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system†
  Carol S. Bruggers, Steven B. Bleyl, Theodore J. Pysher, Philip Barnette, Zeinab Afify, Marion L. Walker, Jaclyn A. Biegel> ;Pediatric Blood & Cancer. 2011 Jul 1
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