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Experience with Integrating Diagnostic Decision Support Software with Electronic Health Records: Benefits versus Risks of Information Sharing.
Published in:
eGEMS (Generating Evidence & Methods to Improve Patient Outcomes), 2017, v. 5, n. 1, p. 1, doi. 10.5334/egems.244
By:
- Segal, Michael M.;
- Rahm, Alanna K.;
- Hulse, Nathan C.;
- Wood, Grant;
- Williams, Janet L.;
- Feldman, Lynn;
- Moore, Gregory J.;
- Gehrum, David;
- Yefko, Michelle;
- Mayernick, Steven;
- Gildersleeve, Roger;
- Sunderland, Margie C.;
- Bleyl, Steven B.;
- Haug, Peter;
- Williams, Marc S.
Publication type:
Article
Expanding the genetic and clinical spectrum of the NONO‐associated X‐linked intellectual disability syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 792, doi. 10.1002/ajmg.a.61091
By:
- Carlston, Colleen M.;
- Bleyl, Steven B.;
- Andrews, Ashley;
- Meyers, Lindsay;
- Brown, Sara;
- Bayrak‐Toydemir, Pinar;
- Bale, James F.;
- Botto, Lorenzo D.
Publication type:
Article
A rapid gene sequencing panel strategy to facilitate precision neonatal medicine.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1979, doi. 10.1002/ajmg.a.38259
By:
- 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
Publication type:
Article
Exome Analysis of a Family with Wolff-Parkinson-White Syndrome Identifies a Novel Disease Locus.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 2975, doi. 10.1002/ajmg.a.37297
By:
- Bowles, Neil E.;
- Jou, Chuanchau J.;
- Arrington, Cammon B.;
- Kennedy, Brett J.;
- Earl, Aubree;
- Matsunami, Norisada;
- Meyers, Lindsay L.;
- Etheridge, Susan P.;
- Saarel, Elizabeth V.;
- Bleyl, Steven B.;
- Yost, H. Joseph;
- Yandell, Mark;
- Leppert, Mark F.;
- Tristani‐Firouzi, Martin;
- Gruber, Peter J.
Publication type:
Article
Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1747, doi. 10.1002/ajmg.a.37085
By:
- 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
Publication type:
Article
Phenotype of a patient with contiguous deletion of TBX5 and TBX3: Expanding the disease spectrum.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1304, doi. 10.1002/ajmg.a.36447
By:
- Bogarapu, Soujanya;
- Bleyl, Steven B.;
- Calhoun, Amy;
- Viskochil, David;
- Saarel, Elizabeth V.;
- Everitt, Melanie D.;
- Frank, Deborah U.
Publication type:
Article
Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3148, doi. 10.1002/ajmg.a.35665
By:
- 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.
Publication type:
Article
A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3137, doi. 10.1002/ajmg.a.35664
By:
- Arrington, Cammon B.;
- Bleyl, Steven B.;
- Matsunami, Nori;
- Bowles, Neil E.;
- Leppert, Tami I.;
- Demarest, Bradley L.;
- Osborne, Karen;
- Yoder, Bradley A.;
- Byrne, Janice L.;
- Schiffman, Joshua D.;
- Null, Donald M.;
- DiGeronimo, Robert;
- Rollins, Michael;
- Faix, Roger;
- Comstock, Jessica;
- Camp, Nicola J.;
- Leppert, Mark F.;
- Yost, H. Joseph;
- Brunelli, Luca
Publication type:
Article
DMD mutation and LTBP4 haplotype do not predict onset of left ventricular dysfunction in Duchenne muscular dystrophy.
Published in:
2018
By:
- Van Dorn, Charlotte S.;
- Puchalski, Michael D.;
- Weng, Hsin-Yi;
- Bleyl, Steven B.;
- Butterfield, Russell J.;
- Williams, Richard V.
Publication type:
journal article
Shared Segment Analysis and Next-Generation Sequencing Implicates the Retinoic Acid Signaling Pathway in Total Anomalous Pulmonary Venous Return (TAPVR).
Published in:
PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0131514
By:
- 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.
Publication type:
Article
Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development.
Published in:
2012
By:
- Bhoj, Elizabeth J;
- Ramos, Purita;
- Baker, Linda A;
- Garg, Vidu;
- Cost, Nicholas;
- Nordenskjöld, Agneta;
- Elder, Frederick F;
- Bleyl, Steven B;
- Bowles, Neil E;
- Arrington, Cammon B;
- Delhomme, Brigitte;
- Vanhoutteghem, Amandine;
- Djian, Philippe;
- Zinn, Andrew R
Publication type:
Correction Notice
Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 5, p. 540, doi. 10.1038/ejhg.2010.245
By:
- Bhoj, Elizabeth J.;
- Ramos, Purita;
- Baker, Linda A.;
- Cost, Nicholas;
- Nordenskjöld, Agneta;
- Elder, Frederick F.;
- Bleyl, Steven B.;
- Bowles, Neil E.;
- Arrington, Cammon B.;
- Delhomme, Brigitte;
- Vanhoutteghem, Amandine;
- Djian, Philippe;
- Zinn, Andrew R.
Publication type:
Article
Interoperable genetic lab test reports: mapping key data elements to HL7 FHIR specifications and professional reporting guidelines.
Published in:
2021
By:
- Khalifa, Aly;
- Mason, Clinton C;
- Garvin, Jennifer Hornung;
- Williams, Marc S;
- Fiol, Guilherme Del;
- Jackson, Brian R;
- Bleyl, Steven B;
- Alterovitz, Gil;
- Huff, Stanley M;
- Del Fiol, Guilherme
Publication type:
journal article
Myocardial overexpression of ANKRD1 causes sinus venosus defects and progressive diastolic dysfunction.
Published in:
Cardiovascular Research, 2020, v. 116, n. 8, p. 1458, doi. 10.1093/cvr/cvz291
By:
- 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
Publication type:
Article
Detection of isoform-specific fibroblast growth factor receptors by whole-mount in situ hybridization in early chick embryos.
Published in:
Developmental Dynamics, 2011, v. 240, n. 6, p. 1537, doi. 10.1002/dvdy.22616
By:
- Nishita, Junko;
- Ohta, Sho;
- Bleyl, Steven B.;
- Schoenwolf, Gary C.
Publication type:
Article
Cardiac malformations in Pdgfrα mutant embryos are associated with increased expression of WT1 and Nkx2.5 in the second heart field.
Published in:
Developmental Dynamics, 2010, v. 239, n. 8, p. 2307, doi. 10.1002/dvdy.22363
By:
- Bax, Noortje A.M.;
- Bleyl, Steven B.;
- Gallini, Radiosa;
- Wisse, Lambertus J.;
- Hunter, Jennifer;
- Van Oorschot, Angelique A.M.;
- Mahtab, Edris A.F.;
- Lie-Venema, Heleen;
- Goumans, Marie-Jose;
- Betsholtz, Christer;
- Gittenberger-de Groot, Adriana C.
Publication type:
Article
Platelet-derived growth factor is involved in the differentiation of second heart field-derived cardiac structures in chicken embryos.
Published in:
Developmental Dynamics, 2009, v. 238, n. 10, p. 2658, doi. 10.1002/dvdy.22073
By:
- 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.
Publication type:
Article
Restricted expression of Fgf16 within the developing chick inner ear.
Published in:
Developmental Dynamics, 2006, v. 235, n. 8, p. 2276
By:
- Susan C. Chapman;
- Qin Cai;
- Steven B. Bleyl;
- Gary C. Schoenwolf
Publication type:
Article
Vasculogenesis drives pulmonary vascular growth in the developing chick embryo.
Published in:
Developmental Dynamics, 2005, v. 233, n. 1, p. 145
By:
- Ann Anderson‐Berry;
- Elizabeth A. O'Brien;
- Steven B. Bleyl;
- Aaron Lawson;
- Nancy Gundersen;
- Daniel Ryssman;
- John Sweeley;
- Mar Janna Dahl;
- Christopher J. Drake;
- Gary C. Schoenwolf;
- Kurt H. Albertine
Publication type:
Article
Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 7, p. N.PAG, doi. 10.1002/mgg3.796
By:
- 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
Publication type:
Article
Clinicopathologic comparison of familial versus sporadic atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system.
Published in:
Pediatric Blood & Cancer, 2011, v. 56, n. 7, p. 1026, doi. 10.1002/pbc.22757
By:
- Bruggers, Carol S.;
- Bleyl, Steven B.;
- Pysher, Theodore;
- Barnette, Philip;
- Afify, Zeinab;
- Walker, Marion;
- Biegel, Jaclyn A.
Publication type:
Article
Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Published in:
2021
By:
- 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
Publication type:
Journal Article
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Published in:
BMC Medicine, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s12916-021-01999-2
By:
- 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
Publication type:
Article
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Published in:
BMC Medicine, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s12916-021-01999-2
By:
- 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
Publication type:
Article
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Published in:
2021
By:
- 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
Publication type:
journal article
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Published in:
BMC Medicine, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s12916-021-01999-2
By:
- 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
Publication type:
Article
Dysregulation of the PDGFRA gene causes inflow tract anomalies including TAPVR: integrating evidence from human genetics and model organisms.
Published in:
Human Molecular Genetics, 2010, v. 19, n. 7, p. 1286, doi. 10.1093/hmg/ddq005
By:
- 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.
Publication type:
Article

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