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

Diagnostic yield of exome and genome sequencing for critically ill pediatric cardiac patients

外显子组和基因组测序对危重症儿科心脏病患者的诊断价值

期刊:Translational Pediatrics
影响因子:
doi:10.21037/tp-2025-1-877
Onorato, Angela C; Gosselin, Rachel; Chaudhari, Bimal P; Alvarado, Chance; White, Peter; Garg, Vidu; Bigelow, Amee M
心脏病
心血管
发表日期：2026
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Fatal Congenital Toxoplasmosis with Progressive Liver Failure and Genomic Characterization of a Novel Isolate from the United States

美国一例致命性先天性弓形虫病伴进行性肝功能衰竭及新型分离株的基因组特征分析

期刊:Microorganisms
影响因子:4.2
doi:10.3390/microorganisms13122865
Kojima, Katsuaki; Varier, Indu; Sayegh, Rouba; Shimamura, Masako; Chaudhari, Bimal P; Bernieh, Anas; Schulz, Matthew J; White, Peter; Fitch, James; Medoro, Alexandra K; Lorenzi, Hernan A; McLeod, Rima
肝衰竭
弓形虫病
微生物学
发表日期：2025
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Feasibility of newborn screening for pyridoxine-dependent epilepsy

新生儿吡哆醇依赖性癫痫筛查的可行性

期刊:Molecular Genetics and Metabolism
影响因子:3.5
doi:10.1016/j.ymgme.2024.109002
Pauly, Kristine; Woontner, Michael; Abdenur, Jose E; Chaudhari, Bimal P; Gosselin, Rachel; Kripps, Kimberly A; Thomas, Janet A; Wempe, Michael F; Gospe, Sidney M Jr; Coughlin, Curtis R 2nd
癫痫
神经科学
发表日期：2025
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Early Neonatal Fosdenopterin Treatment for Molybdenum Cofactor Deficiency Type A: New Insights into Its Natural History and Potential Role for Fetal Therapy

早期新生儿磷蝶呤治疗A型钼辅因子缺乏症：对其自然病程和胎儿治疗潜在作用的新认识

期刊:Journal of Clinical Medicine
影响因子:2.9
doi:10.3390/jcm14103561
Etchegaray, Adolfo; Haffner, Darrah; Cruz, Stephanie M; Ogunleye, Oluseyi; Xia, Jason; Schlegel, Amy; Olutoye, Oluyinka O; Chaudhari, Bimal P
发表日期：2025
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Managing the Uncertainty of "Precision" While Navigating Goals of Care: A Framework for Collaborative Interpretation of Complex Genomic Testing Results in Critically-Ill Neonates

在实现护理目标的过程中管理“精确性”的不确定性：危重新生儿复杂基因组检测结果协作解读框架

期刊:Children-Basel
影响因子:2.1
doi:10.3390/children13010034
Cortezzo, DonnaMaria E; Callahan, Katharine Press; Chaudhari, Bimal P; Weiss, Elliott M; Wojcik, Monica Hsiung; Acharya, Krishna; Schlegel, Amy B; Sullivan, Kevin M; Fry, Jessica T
发表日期：2025
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Evaluation of Exome and Genome Sequencing for Critically Ill Pediatric Cardiac Patients

对危重症儿科心脏病患者进行外显子组和基因组测序的评估

期刊:
影响因子:
doi:10.21203/rs.3.rs-6314694/v1
Onorato, Angela C; Gosselin, Rachel; Chaudhari, Bimal P; Alvarado, Chance; White, Peter; Garg, Vidu; Bigelow, Amee M
心脏病
心血管
发表日期：2025
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An end to genetic exceptionalism: reframing the ethics of genomic sequencing for rapid neonatal diagnosis

终结基因特殊论：重新构建基因组测序在新生儿快速诊断中的伦理框架

期刊:
影响因子:
doi:10.1016/j.semperi.2025.152110
Shulman, Kaiulani S; Fishler Malone, Kristen; Smith, Hadley Stevens; Chaudhari, Bimal P; Wojcik, Monica H
发表日期：2025
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CNVoyant a machine learning framework for accurate and explainable copy number variant classification

CNVoyant 是一个用于准确且可解释的拷贝数变异分类的机器学习框架

期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-024-72470-4
Schuetz, Robert J; Ceyhan, Defne; Antoniou, Austin A; Chaudhari, Bimal P; White, Peter
发表日期：2024
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CAVaLRi: An Algorithm for Rapid Identification of Diagnostic Germline Variation

CAVaLRi：一种用于快速识别诊断性种系变异的算法

期刊:Human Mutation
影响因子:3.7
doi:10.1155/2024/6411444
Schuetz, Robert J; Antoniou, Austin A; Lammi, Grant E; Gordon, David M; Kuck, Harkness C; Chaudhari, Bimal P; White, Peter
发表日期：2024
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CNVoyant: A Highly Performant and Explainable Multi-Classifier Machine Learning Approach for Determining the Clinical Significance of Copy Number Variants

CNVoyant：一种高性能且可解释的多分类器机器学习方法，用于确定拷贝数变异的临床意义

期刊:
影响因子:
doi:10.21203/rs.3.rs-4308324/v1
Schuetz, Robert J; Ceyhan, Defne; Antoniou, Austin A; Chaudhari, Bimal P; White, Peter
发表日期：2024
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