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

Phenotype-first patient matching with SimPheny identifies diagnostic candidates beyond curated gene associations

利用SimPheny进行表型优先的患者匹配，可以识别出除已筛选基因关联之外的诊断候选基因。

期刊:
影响因子:
doi:10.64898/2026.01.15.26344236
Cooperstein, Isabelle B; Ward, Alistair; Kobren, Shilpa N; Lebleu, Emerson; Moore, Barry; Spillmann, Rebecca C; Shashi, Vandana; Marth, Gabor T
发表日期：2026
文献求助 收藏

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

联合、多方面的基因组分析能够诊断各种极其罕见的单基因疾病。

期刊:Nature Communications
影响因子:15.7
doi:10.1038/s41467-025-61712-2
Kobren, Shilpa Nadimpalli; Moldovan, Mikhail A; Reimers, Rebecca; Traviglia, Daniel; Li, Xinyun; Barnum, Danielle; Veit, Alexander; Corona, Rosario I; Carvalho Neto, George de V; Willett, Julian; Berselli, Michele; Ronchetti, William; Nelson, Stanley F; Martinez-Agosto, Julian A; Sherwood, Richard; Krier, Joel; Kohane, Isaac S; Sunyaev, Shamil R
发表日期：2025
文献求助 收藏

Few shot learning for phenotype-driven diagnosis of patients with rare genetic diseases

利用少样本学习进行表型驱动的罕见遗传病患者诊断

期刊:npj Digital Medicine
影响因子:15.1
doi:10.1038/s41746-025-01749-1
Alsentzer, Emily; Li, Michelle M; Kobren, Shilpa N; Noori, Ayush; Kohane, Isaac S; Zitnik, Marinka
发表日期：2025
文献求助 收藏

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

针对罕见病诊断的优化变异优先级排序流程：Exomiser 和 Genomiser 的建议

期刊:Genome Medicine
影响因子:11.2
doi:10.1186/s13073-025-01546-1
Cooperstein, Isabelle B; Marwaha, Shruti; Ward, Alistair; Kobren, Shilpa N; Carter, Jennefer N; Wheeler, Matthew T; Marth, Gabor T
发表日期：2025
文献求助 收藏

A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort

利用全基因组方法在未确诊疾病网络队列中发现新的重复序列扩增疾病

期刊:Genetics in Medicine
影响因子:6.2
doi:10.1016/j.gim.2025.101462
Fazal, Sarah; Dashnow, Harriet; Dohrn, Maike F; Raposo, Jacquelyn; Hiatt, Laurel; Danzi, Matt C; Xu, Isaac R L; Toro, Camilo; Adams, David R; Usdin, Karen; Hayward, Bruce; Kobren, Shilpa Nadimpalli; Sunyaev, Shamil R; Spillmann, Rebecca C; Shashi, Vandana; Rebelo, Adriana; Bademci, Guney; Tekin, Mustafa; Quinlan, Aaron R; Zuchner, Stephan
发表日期：2025
文献求助 收藏

Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients

罕见变异携带者表型的富集提示罕见病患者的致病机制

期刊:Biodata Mining
影响因子:6.1
doi:10.1186/s13040-024-00418-5
Fitzsimmons, Lane; Beaulieu-Jones, Brett; Kobren, Shilpa Nadimpalli
发表日期：2025
文献求助 收藏

VarPPUD: Pinpointing diagnostic variants from sets of prioritized, strong candidate variants

VarPPUD：从一组优先排序的强候选变异中精确定位诊断变异

期刊:PLoS Computational Biology
影响因子:3.6
doi:10.1371/journal.pcbi.1013414
Yin, Rui; Gutiérrez-Sacristán, Alba; Kobren, Shilpa Nadimpalli; Avillach, Paul
发表日期：2025
文献求助 收藏

RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci

RExPRT：一种用于预测串联重复序列位点致病性的机器学习工具

期刊:Genome Biology
影响因子:9.4
doi:10.1186/s13059-024-03171-4
Fazal, Sarah; Danzi, Matt C; Xu, Isaac; Kobren, Shilpa Nadimpalli; Sunyaev, Shamil; Reuter, Chloe; Marwaha, Shruti; Wheeler, Matthew; Dolzhenko, Egor; Lucas, Francesca; Wuchty, Stefan; Tekin, Mustafa; Züchner, Stephan; Aguiar-Pulido, Vanessa
发表日期：2024
文献求助 收藏

Polygenic risk scores for autoimmune related diseases are significantly different in cancer exceptional responders

癌症特效患者的自身免疫相关疾病的多基因风险评分存在显著差异。

期刊:npj Precision Oncology
影响因子:8
doi:10.1038/s41698-024-00613-x
Chen, Siyuan; Tan, Amelia L M; Saad Menezes, Maria C; Mao, Jenny F; Perry, Cassandra L; Vella, Margaret E; Viswanadham, Vinayak V; Kobren, Shilpa; Churchill, Susanne; Kohane, Isaac S
肿瘤
肿瘤免疫
免疫/内分泌
发表日期：2024
文献求助 收藏

Phenotypic overlap between rare disease patients and variant carriers in a large population cohort informs biological mechanisms

在大规模人群队列中，罕见病患者与变异携带者之间的表型重叠有助于揭示生物学机制。

期刊:
影响因子:
doi:10.1101/2024.04.18.24305861
Fitzsimmons, Lane; Beaulieu-Jones, Brett; Kobren, Shilpa Nadimpalli
发表日期：2024
文献求助 收藏