日期 影响因子
日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:
–

Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing

将威尔逊-荣格纳原则应用于基因组学时代：国际新生儿测序联盟的共识建议

期刊:Genetics in Medicine
影响因子:6.2
doi:10.1016/j.gim.2025.101618
Downie, Lilian; Yeo, Julie; Minten, Thomas; Heald, Rose; Ansel, Derek; Baker, Mei; Balciuniene, Jorune; Berg, Jonathan S; Boemer, François; Chung, Wendy K; Cope, Heidi L; Eckstein, David J; Encina, Nicolas; Faivre, Laurence; Ferlini, Alessandra; García-Villoria, Judit; Gelb, Michael H; González De Aledo-Castillo, José Manuel; Golden-Grant, Katie; Parad, Richard B; Shah, Nidhi; Stark, Zornitza; Sund, Kristen L; Tsipouras, Petros; To, Meekai; Bick, David; Green, Robert C; Gold, Nina B
发表日期：2026
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The Early Care (0-3 Years) In Duchenne Muscular Dystrophy Meeting Report

杜氏肌营养不良症早期护理（0-3岁）会议报告

期刊:Journal of Neuromuscular Diseases
影响因子:3.4
doi:10.3233/JND-230180
Armstrong, Niki; Apkon, Susan; Berggren, Kiera N; Braun, Catherine; Ciafaloni, Emma; Connolly, Anne; Kennedy, Annie; Kuntz, Nancy; Mathews, Katherine; McGuire, Michelle; Parad, Richard; Scavina, Mena; Scharf, Rebecca J; Waldrop, Megan
发表日期：2024
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Incidence rate and geographic distribution of congenital hypothyroidism in the southwest of Iran (Kohgiluyeh and Boyer Ahmad province) based on geographic information system since 2011-2020

基于地理信息系统的伊朗西南部（科吉卢耶省和博耶尔艾哈迈德省）2011-2020年先天性甲状腺功能减退症发病率和地理分布

期刊:BMC Pediatrics
影响因子:2
doi:10.1186/s12887-024-05292-y
Ghatee, Mohammad Amin; Manzouri, Leila; Kheiri, Maryam; Parad, Mohamad
甲状腺功能减退
免疫/内分泌
发表日期：2024
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Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project

新生儿基因组筛查中意外发现的单基因疾病风险的可操作性：来自 BabySeq 项目的研究结果

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2023.05.007
Green, Robert C; Shah, Nidhi; Genetti, Casie A; Yu, Timothy; Zettler, Bethany; Uveges, Melissa K; Ceyhan-Birsoy, Ozge; Lebo, Matthew S; Pereira, Stacey; Agrawal, Pankaj B; Parad, Richard B; McGuire, Amy L; Christensen, Kurt D; Schwartz, Talia S; Rehm, Heidi L; Holm, Ingrid A; Beggs, Alan H
发表日期：2023
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Parents' decision-making regarding whether to receive adult-onset only genetic findings for their children: Findings from the BabySeq Project

父母关于是否只获取子女成年后才发病的基因检测结果的决策：来自BabySeq项目的研究结果

期刊:Genetics in Medicine
影响因子:6.2
doi:10.1016/j.gim.2022.100002
Pereira, Stacey; Gutierrez, Amanda M; Robinson, Jill Oliver; Christensen, Kurt D; Genetti, Casie A; Blout Zawatsky, Carrie L; Hsu, Rebecca L; Zettler, Bethany; Uveges, Melissa Kurtz; Parad, Richard B; Beggs, Alan H; Holm, Ingrid A; Green, Robert C; McGuire, Amy L
发表日期：2023
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Parental Attitudes Toward Standard Newborn Screening and Newborn Genomic Sequencing: Findings From the BabySeq Study

父母对新生儿标准筛查和新生儿基因组测序的态度：来自 BabySeq 研究的发现

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2022.867371
Armstrong, Brittan; Christensen, Kurt D; Genetti, Casie A; Parad, Richard B; Robinson, Jill Oliver; Blout Zawatsky, Carrie L; Zettler, Bethany; Beggs, Alan H; Holm, Ingrid A; Green, Robert C; McGuire, Amy L; Smith, Hadley Stevens; Pereira, Stacey
发表日期：2022
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A role for abdominal ultrasound in discriminating suspected necrotizing enterocolitis in congenital heart disease patients

腹部超声在鉴别先天性心脏病患者疑似坏死性小肠结肠炎中的作用

期刊:Pediatric Surgery International
影响因子:1.6
doi:10.1007/s00383-021-05025-7
Lazow, Stefanie P; Tracy, Sarah A; Estroff, Judy A; Parad, Richard B; Castro-Aragon, Ilse M; Fujii, Alan M; Staffa, Steven J; Zurakowski, David; Chen, Catherine
心脏病
心血管
结肠炎
肠炎
发表日期：2022
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Urine Proteomics for Noninvasive Monitoring of Biomarkers in Bronchopulmonary Dysplasia

尿液蛋白质组学用于支气管肺发育不良生物标志物的无创监测

期刊:
影响因子:
doi:10.1159/000520680
Ahmed, Saima; Odumade, Oludare A; van Zalm, Patrick; Smolen, Kinga K; Fujimura, Kimino; Muntel, Jan; Rotunno, Melissa S; Winston, Abigail B; Steen, Judith A; Parad, Richard B; Van Marter, Linda J; Kourembanas, Stella; Steen, Hanno
发育与干细胞
发表日期：2022
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Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project: A Randomized Clinical Trial

BabySeq项目：新生儿基因组测序对家庭的心理社会影响：一项随机临床试验

期刊:Jama Pediatrics
影响因子:18
doi:10.1001/jamapediatrics.2021.2829
Pereira, Stacey; Smith, Hadley Stevens; Frankel, Leslie A; Christensen, Kurt D; Islam, Rubaiya; Robinson, Jill Oliver; Genetti, Casie A; Blout Zawatsky, Carrie L; Zettler, Bethany; Parad, Richard B; Waisbren, Susan E; Beggs, Alan H; Green, Robert C; Holm, Ingrid A; McGuire, Amy L
发表日期：2021
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Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project

BabySeq 项目中常规新生儿筛查与基因组测序结果不一致

期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-021-01146-5
Wojcik, Monica H; Zhang, Tian; Ceyhan-Birsoy, Ozge; Genetti, Casie A; Lebo, Matthew S; Yu, Timothy W; Parad, Richard B; Holm, Ingrid A; Rehm, Heidi L; Beggs, Alan H; Green, Robert C; Agrawal, Pankaj B
发表日期：2021
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