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

Proceedings of the second Artificial Intelligence in Primary Immunodeficiency (AIPI) meeting

第二届原发性免疫缺陷人工智能(AIPI)会议论文集

Rivière, Jacques G; Bastarache, Lisa; Campos, Luiza C; Carot-Sans, Gerard; Chin, Aaron; Chunara, Rumi; Cunningham-Rundles, Charlotte; Erra, Lorenzo; Farmer, Jocelyn; Garcelon, Nicolas; Hsieh, Elena; Leavis, Helen; Lee, Seungwon; Liu, Liangying; Kusters, Maaike; Lloyd, Brian C; Martinson, Alexandra K; Mester, Rachel; Moore, Justin B; Moshous, Despina; Orange, Jordan S; Parrish, Nefatia; Parker, Sarah Henrickson; Pasaniuc, Bogdan; Peng, Xiao P; Pergent, Martine; Piera-Jiménez, Jordi; Quinn, Jessica; Ramesh, Sidharth; Roberts, Kirk; Robinson, Peter N; Savova, Guergana; Scalchunes, Christopher; Seidel, Markus G; Simoneau, Rachel; Soler-Palacin, Pere; Sullivan, Kathleen E; Van Gijn, Marielle; Wi, Chung-Il; Zhou, Dawei; Tenembaum, Vanessa; Butte, Manish J; Rider, Nicholas L

Evaluating pregnancy and neonatal outcomes in mothers with genetic disease using electronic health care records

利用电子健康记录评估患有遗传疾病母亲的妊娠和新生儿结局

Tinker, Rory J; Richter, Lucas D; Furuta, Yutaka; Shyr, Cathy; Shirazi, Sherwin M; Sucre, Jennifer; Gatta, Luke A; Phillips, John A 3rd; Peterson, Josh F; Bastarache, Lisa

Hypophosphatasia: low penetrance of pathogenic and likely-pathogenic ALPL variants identified through an unselected biorepository

低磷酸血症:通过未经筛选的生物样本库鉴定出的致病性和可能致病性ALPL变异体的低外显率

Dahir, Kathryn M; Below, Jennifer E; Liu, Jinyuan; Javid, Amir; Wang, Guancho; Bastarache, Lisa

Mitigating sepsis-induced vascular endothelial dysfunction through Niban phosphorylation

通过Niban磷酸化减轻脓毒症引起的血管内皮功能障碍

Baer, Brandon; Morelli, Madeleine; Wadzinski, Brian; Katta, Anish; Sisung, Amanda J; Brophy, Colleen; Bastarache, Julie A; Cheung-Flynn, Joyce

Advanced Age in Mice Exacerbates Sepsis-Induced Inflammation, Vascular Permeability, and Multi-Organ Dysfunction

小鼠高龄会加剧脓毒症引起的炎症、血管通透性和多器官功能障碍

Lee, Han Noo Ri; Lin, Jason; Smith, Camryn J; Ware, Lorraine B; Harrison, Fiona E; Bastarache, Julie A; Baer, Brandon

Endothelial dysfunction in aging associated with reduced Niban phosphorylation

衰老过程中内皮功能障碍与Niban磷酸化水平降低有关

Baer, Brandon; Morelli, Madeleine; Brophy, Colleen; Bastarache, Julie A; Cheung-Flynn, Joyce

Sex-Specific Diagnostic Inequality in Fabry Disease: Lessons Learned from Analysis of Newborn Screening and Cascade Testing in Tennessee from 2017 to 2024

法布里病诊断中存在的性别差异:从2017年至2024年田纳西州新生儿筛查和级联检测分析中汲取的经验教训

Furuta, Yutaka; Agrawal, Neena S; Owen, Natalie N; Bastarache, Lisa A; Shyr, Cathy; Geiger, Hanabi U; Jackson, Shayna; Lauderdale, Chelsea J; Carter, Camille R; Morgan, Karee A; Hamid, Rizwan; Phillips Iii, John A; Tinker, Rory J

Diagnostic Accuracy of Large Language Models for Rare Diseases: A Systematic Review and Meta-Analysis

大型语言模型在罕见病诊断中的准确性:系统评价和荟萃分析

Nguyen, Minh-Ha; Yang, Chih-Ting; Cassini, Thomas A; Ma, Fan; Hamid, Rizwan; Bastarache, Lisa; Peterson, Josh F; Xu, Hua; Li, Lingyao; Ma, Siyuan; Shyr, Cathy

Developing a phenotype risk score for TTR V142I to capture undiagnosed variant transthyretin amyloidosis in health systems

为TTR V142I开发表型风险评分,以在医疗系统中发现未确诊的变异型转甲状腺素蛋白淀粉样变性。

Sarkar, Deepa; Ferar, Kathleen D; Syed, Mohammad Ghouse; Bastarache, Lisa A; Kenny, Eimear E; Abul-Husn, Noura S; Pejaver, Vikas; Kontorovich, Amy R

Leveraging PCORnet® to Advance Clinical Genetics and the Genomic Learning Health System

利用 PCORnet® 推进临床遗传学和基因组学习健康系统

Rothman, Russell L; Peterson, Josh; Kripalani, Sunil; Barrett, Jennifer B; Bastarache, Lisa; Lenert, Les; Taylor, Bradley; Carnahan, Ryan; Waitman, Lemuel R