Clinical Exome Sequencing Identifies a Novel TUBB4A Mutation in a Child with Static Hypomyelinating Leukodystrophy

по Purnell, Shawn M., Bleyl, Steven B., Bonkowsky, Joshua L.
Опубликовано 2014

Detection of Isoform-Specific FGF Receptors by Whole Mount in Situ Hybridization in Early Chick Embryos

по Nishita, Junko, Ohta, Sho, Bleyl, Steven B., Schoenwolf, Gary C.
Опубликовано 2011

Identification of differentially expressed genes in early inner ear development

по Paxton, Christian N., Bleyl, Steven B., Chapman, Susan C., Schoenwolf, Gary C.
Опубликовано 2009

Non-synonymous variants in Pre B-cell leukemia homeobox (PBX) genes are associated with congenital heart defects

по Arrington, Cammon B., Dowse, Benjamin R., Bleyl, Steven B., Bowles, Neil E.
Опубликовано 2012

Mandibulofacial Dysostosis in a Patient with a de novo 2;17 Translocation that Disrupts the HOXD Gene Cluster

по Stevenson, David A., Bleyl, Steven B., Maxwell, Teresa, Brothman, Arthur R., South, Sarah T.
Опубликовано 2007

Redundant and dosage sensitive requirements for Fgf3 and Fgf10 in cardiovascular development

по Urness, Lisa D., Bleyl, Steven B., Wright, Tracy J., Moon, Anne M., Mansour, Suzanne L.
Опубликовано 2011

Clinicopathologic Comparison of Familial Versus Sporadic Atypical Teratoid/Rhabdoid Tumors (AT/RT) of the Central Nervous System

по Bruggers, Carol S., Bleyl, Steven B., Pysher, Theodore, Barnette, Philip, Afify, Zeinab, Walker, Marion, Biegel, Jaclyn A.
Опубликовано 2010

Use of ECMO and Mortality in Pediatric Cardiac Surgery Patients with Genetic Conditions: A Multicenter Analysis

по Furlong-Dillard, Jamie M., Amula, Venugopal, Bailly, David K., Bleyl, Steven B., Wilkes, Jacob, Bratton, Susan L.
Опубликовано в: Pediatr Crit Care Med (2017)

DMD mutation and LTBP4 haplotype do not predict onset of left ventricular dysfunction in Duchenne muscular dystrophy

по Van Dorn, Charlotte S., Puchalski, Michael D., Weng, Hsin-Yi, Bleyl, Steven B., Butterfield, Russell J., Williams, Richard V.
Опубликовано в: Cardiol Young (2018)

Rationale for the Cytogenomics of Cardiovascular Malformations Consortium: A Phenotype Intensive Registry Based Approach

по 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.
Опубликовано в: J Cardiovasc Dev Dis (2015)

Exome Analysis of a Family with Pleiotropic Congenital Heart Disease

по Arrington, Cammon B., Bleyl, Steven B., Matsunami, Norisada, Bonnell, Gabriel D., Otterud, Brith E.M., Nielsen, Douglas C., Stevens, Jeffrey, Levy, Shawn, Leppert, Mark F., Bowles, Neil E.
Опубликовано 2012

Shared Segment Analysis and Next-Generation Sequencing Implicates the Retinoic Acid Signaling Pathway in Total Anomalous Pulmonary Venous Return (TAPVR)

по 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.
Опубликовано в: PLoS One (2015)

Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development

по 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
Опубликовано 2011

Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development

по 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
Опубликовано 2012

Cardiac malformations in Pdgfrα mutant embryos are associated with increased expression of WT1 and Nkx2.5 in the second heart field

по 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.
Опубликовано 2010

Experience with Integrating Diagnostic Decision Support Software with Electronic Health Records: Benefits versus Risks of Information Sharing

по 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.
Опубликовано в: EGEMS (Wash DC) (2017)

Dysregulation of the PDGFRA gene causes inflow tract anomalies including TAPVR: integrating evidence from human genetics and model organisms

по 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.
Опубликовано 2010

Exome Analysis of a Family with Wolff–Parkinson–White Syndrome Identifies a Novel Disease Locus

по 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.
Опубликовано в: Am J Med Genet A (2015)

A Family-Based Paradigm to Identify Candidate Chromosomal Regions for Isolated Congenital Diaphragmatic Hernia

по 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
Опубликовано 2012

Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants

по 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
Опубликовано в: Mol Genet Genomic Med (2019)