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

Sex differences in self-reported symptoms and comorbidities associated with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders: A retrospective study

高活动性埃勒斯-当洛斯综合征和高活动性谱系障碍患者自述症状和合并症的性别差异：一项回顾性研究

期刊:
影响因子:
doi:10.21203/rs.3.rs-8310986/v1
Wilson, Frances C; Zangerle, Derek J; Darakjian, Ashley A; Bhutani, Mira; Fliess, Jessica J; Gehin, Jessica M; Strandes, Max W; Hamilton, Charwan; Sledge, Hanna J; Hodge, David O; Wang, Benjamin W E; Atwal, Paldeep S; Zeman, Ashley M; Shufelt, Chrisandra L; Gajarawala, Shilpa N; Bruno, Katelyn A; Knight, Dacre R T; Fairweather, DeLisa
发表日期：2026
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Localized and historical hypermobile spectrum disorders share self-reported symptoms and comorbidities with hEDS and HSD

局部性和历史性高活动性谱系障碍与 hEDS 和 HSD 具有相似的自我报告症状和合并症。

期刊:Frontiers in Medicine
影响因子:3
doi:10.3389/fmed.2025.1594796
Fairweather, DeLisa; Bruno, Katelyn A; Darakjian, Ashley A; Wilson, Frances C; Fliess, Jessica J; Murphy, Emma F; Kocsis, S Christian; Strandes, Max W; Weigel, Gabriel J; Puls, Alayna M; Hartmoyer, Cameron J; Hamilton, Charwan; Whelan, Emily R; Gehin, Jessica M; Menton, Stacey M; Sledge, Hanna; Hodge, David O; Gajarawala, Shilpa; Munipalli, Bala; Shufelt, Chrisandra L; Atwal, Paldeep S; Knight, Dacre R T
发表日期：2025
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Sex differences in comorbidities associated with Sjögren's disease

干燥综合征相关合并症的性别差异

期刊:Frontiers in Medicine
影响因子:3
doi:10.3389/fmed.2022.958670
Bruno, Katelyn A; Morales-Lara, Andrea Carolina; Bittencourt, Edsel B; Siddiqui, Habeeba; Bommarito, Gabriella; Patel, Jenil; Sousou, John M; Salomon, Gary R; Paloka, Rinald; Watford, Shelby T; Hodge, David O; Lieberman, Scott M; Rozen, Todd D; Atwal, Paldeep S; Dorsher, Peter T; Seim, Lynsey A; Fairweather, DeLisa
干燥综合征
免疫/内分泌
发表日期：2022
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Molecular Modeling and Phenotypic Description of a Patient with a Novel Exonic Deletion of GALNS with Resultant Morquio Syndrome with Two Successful Pregnancies

对一名携带新型GALNS外显子缺失导致莫尔基奥综合征并成功妊娠的患者进行分子建模和表型描述

期刊:Molecular Syndromology
影响因子:0.9
doi:10.1159/000519326
Selvam, Pavalan; Jain, Angita; Abbott, Jessica; Ahuja, Abhimanyu S; Cheema, Anvir; Bruno, Katelyn A; Atwal, Herjot; Forghani, Irman; Caulfield, Thomas; Atwal, Paldeep S
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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Sex differences in inflammation, redox biology, mitochondria and autoimmunity

炎症、氧化还原生物学、线粒体和自身免疫方面的性别差异

期刊:Redox Biology
影响因子:11.9
doi:10.1016/j.redox.2020.101482
Di Florio, Damian N; Sin, Jon; Coronado, Michael J; Atwal, Paldeep S; Fairweather, DeLisa
炎症/感染
线粒体
炎症
免疫/内分泌
发表日期：2020
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Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain

人类SIM1蛋白转录激活结构域功能丧失变异体动态效应的结构模型

期刊:Biomolecules
影响因子:4.8
doi:10.3390/biom10091314
Coban, Mathew A; Blackburn, Patrick R; Whitelaw, Murray L; Haelst, Mieke M van; Atwal, Paldeep S; Caulfield, Thomas R
Human
发表日期：2020
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The natural history of infantile neuroaxonal dystrophy

婴儿神经轴索营养不良的自然史

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-020-01355-2
Altuame, Fadie D; Foskett, Gretchen; Atwal, Paldeep S; Endemann, Sarah; Midei, Mark; Milner, Peter; Salih, Mustafa A; Hamad, Muddathir; Al-Muhaizea, Mohammad; Hashem, Mais; Alkuraya, Fowzan S
发表日期：2020
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The infantile neuroaxonal dystrophy rating scale (INAD-RS)

婴儿神经轴索营养不良评定量表（INAD-RS）

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-020-01479-5
Atwal, Paldeep S; Midei, Mark; Adams, Darius; Fay, Alexander; Heerinckx, Frederic; Milner, Peter
发表日期：2020
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