Bleyl Steven B相关文献与解析，生知库 | 链接生命科学的每一步

日期影响因子

RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease cases

RNA测序为以往无法确诊的罕见病病例提供了功能性见解和诊断依据。

期刊:BMC Medical Genomics

doi:10.1186/s12920-025-02227-z

Lewis, Robert G; O'Shea, John M; Pizzo, Lucilla; Wen, Ting; Fulmer, Makenzie L; Zhao, Jian; Verheijen, Jan; Zhang, Chaofan; Velinder, Matt; Nicholas, Thomas J; Boyden, Steven E; Ward, Alistair; Baldwin, Erin E; Andrews, Ashley; Ruiz, Joselin Hernandez; Marchetti, Marco; Viskochil, David; Carey, John C; Bleyl, Steven B; Butterfield, Russell J; Taliercio, Vanina; Botto, Lorenzo D; Mao, Rong; Bayrak-Toydemir, Pinar

发表日期：2025

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Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics

评估儿科快速下一代测序技术的应用

期刊:Pediatric Research

影响因子:3.1

doi:10.1038/s41390-022-01965-5

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

发表日期：2022

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Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study

医生指导下的基因筛查用于评估个人罹患需采取医疗措施的疾病的风险：一项大型多中心队列研究

期刊:BMC Medicine

影响因子:8.3

doi:10.1186/s12916-021-01999-2

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

发表日期：2021

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Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study

更正：医生指导下的基因筛查评估个人罹患需采取医学干预措施的疾病的风险：一项大型多中心队列研究

期刊:BMC Medicine

影响因子:8.3

doi:10.1186/s12916-021-02141-y

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

发表日期：2021

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Interoperable genetic lab test reports: mapping key data elements to HL7 FHIR specifications and professional reporting guidelines

可互操作的基因实验室检测报告：将关键数据元素映射到 HL7 FHIR 规范和专业报告指南

期刊:Journal of the American Medical Informatics Association

影响因子:4.6

doi:10.1093/jamia/ocab201

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

发表日期：2021

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

靶向基因组测序用于快速诊断急性病患儿

期刊:Molecular Genetics & Genomic Medicine

影响因子:1.6

doi:10.1002/mgg3.796

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

发表日期：2019

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

DMD基因突变和LTBP4单倍型并不能预测杜氏肌营养不良症患者左心室功能障碍的发生。

期刊:Cardiology in the Young

影响因子:0.7

doi:10.1017/S1047951118000288

Van Dorn, Charlotte S; Puchalski, Michael D; Weng, Hsin-Yi; Bleyl, Steven B; Butterfield, Russell J; Williams, Richard V

发表日期：2018

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

心血管畸形细胞遗传学联盟的理论基础：基于表型密集型登记的方法

期刊:Journal of Cardiovascular Development and Disease

影响因子:2.3

doi:10.3390/jcdd2020076

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

细胞生物学

发表日期：2015

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Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy

临床外显子组测序在一名患有静止性髓鞘形成不足性脑白质营养不良的儿童中发现了一种新的TUBB4A突变

期刊:Pediatric Neurology

影响因子:2.1

doi:10.1016/j.pediatrneurol.2014.01.051

Purnell, Shawn M; Bleyl, Steven B; Bonkowsky, Joshua L

发表日期：2014

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Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks

先天性膈疝位于8p23.1染色体上的区间，其特征是遗传学和蛋白质相互作用网络

期刊:American Journal of Medical Genetics Part A

影响因子:1.7

doi:10.1002/ajmg.a.35665

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

发表日期：2012

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