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

Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila models

利用深度临床表型分析和果蝇模型解析SLC6A1基因表达变异性

Jay, Kristy L; Gogate, Nikhita; Hall, Paige I; Ezell, Kimberly M; Andrews, Jonathan C; Jangam, Sharayu V; Pan, Hongling; Pham, Kelvin; German, Ryan; Gomez, Vanessa; Jellinek-Russo, Emily; Storch, Eric A; Yamamoto, Shinya; Kanca, Oguz; Bellen, Hugo J; Dierick, Herman A; Cogan, Joy D; Phillips, John A; Hamid, Rizwan; Cassini, Thomas; Rives, Lynette; Pruthi, Sumit; Chen, Hua-Chang; Posey, Jennifer E; Wangler, Michael F

Decoding Genetic Disease Through the Skin: Lessons From the UDN

通过皮肤解码遗传疾病:来自UDN的经验教训

Sivadas, Athira; Moore, Katelyn; Ezell, Kimberly; McMinn, Ashley; Furuta, Yutaka; Bunick, Christopher G; Cassini, Thomas; Hamid, Rizwan; Phillips, John A 3rd; Tinker, Rory J

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

Large Language Models for Rare Disease Diagnosis at the Undiagnosed Diseases Network

未确诊疾病网络的大型语言模型用于罕见病诊断

Shyr, Cathy; Cassini, Thomas A; Tinker, Rory J; Byram, Kevin W; Embí, Peter J; Bastarache, Lisa; Peterson, Josh F; Xu, Hua; Hamid, Rizwan

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

与NUS1致病变异相关的神经系统表型谱:一项综合病例系列研究

Brooker, Sarah M; Novelli, Maria; Coukos, Robert; Prakash, Neha; Kamel, Walaa A; Amengual-Gual, Marta; Anheim, Mathieu; Barcia, Giulia; Bardakjian, Tanya; Baur, Franciska; Berweck, Steffen; Bölsterli, Bigna K; Brugger, Melanie; Cassini, Thomas; Chatron, Nicolas; Corner, Brian; Dafsari, Hormos Salimi; de Sainte Agathe, Jean-Madeleine; Ellis, Colin A; Ezell, Kimberly M; Foucard, Cendrine; Frucht, Steven J; Garcia, Maria C; Gill, Deepak; Guimier, Anne; Hamid, Rizwan; Heine-Suñer, Damià; Herkenrath, Peter; Hully, Marie; Isaias, Ioannis U; Januel, Louis; Laurencin, Chloe; Laut, Taylor; Lavillaureix, Alinoe; Lesca, Gaetan; Lesieur-Sebellin, Marion; Magistrelli, Luca; Marelli, Cecilia; Mefford, Heather C; Mendelsohn, Bryce A; Mercimek-Andrews, Saadet; Miller, Claire; Mohammad, Shekeeb S; Morgante, Francesca; Nandipati, Sirisha; Opladen, Thomas; Padmanaban, Mahesh; Pauni, Micaela; Pezzoli, Gianni; Piton, Amelie; Ramond, Francis; Riboldi, Giulietta M; Rougeot-Jung, Christelle; Santos-Simarro, Fernando; Scheffer, Ingrid E; Serari, Naoual; Stahl, Christine M; Kung, Ann Stembridge; Tarongí Sanchez, Susana; Thauvin-Robinet, Christel; Till, Marianne; Tranchant, Christine; Troedson, Christopher; Tropea, Thomas F; Vanakker, Olivier; Vega, Patricia; Wiese, Maxi Leona; Wieshmann, Udo; Williams, Laura J; Wirth, Thomas; Zech, Michael; Zempel, Hans; Roze, Emmanuel; Leuzzi, Vincenzo; Galosi, Serena; Fung, Victor S C; Carvill, Gemma; Krainc, Dimitri; Gerard, Elizabeth; Mencacci, Niccolò E

Circular RNA Profiling Identifies circ5078 as a BMPR2-Derived Regulator of Endothelial Proliferation and Stress Responses.

环状 RNA 分析鉴定出 circ5078 是 BMPR2 衍生的内皮细胞增殖和应激反应调节因子

VandenBroek M Martin, Sharp Mackenzie C, Thompson Patrick, Fagbola Emmanuel, Quilty Douglas, Mewburn Jeffrey D, Theilmann Anne L, Dunham-Snary Kimberly J, Hemnes Anna R, Cogan Joy D, Austin Eric D, Hamid Rizwan, Archer Stephen L, Renwick Neil, Ormiston Mark L

Systematic method for classifying multiple congenital anomaly cases in electronic health records

电子健康记录中多发性先天性异常病例分类的系统方法

Brokamp, Elly; Miller-Fleming, Tyne; Scalici, Alexandra; Hooker, Gillian; Hamid, Rizwan; Velez Edwards, Digna; Chung, Wendy K; Luo, Yuan; Kiryluk, Krzysztof; Limidi, Nita A; Khankari, Nikhil K; Cox, Nancy J; Bastarache, Lisa; Shuey, Megan M

The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas

未确诊疾病网络(UDN)解决眼部综合征诊断难题

Tinker, Rory J; Smith, Logan M; Bastarache, Lisa A; Ezell, Kimberly M; Furuta, Yutaka; Hamid, Rizwan; Cogan, Joy D; Phillips, John A 3rd; Joos, Karen M

RNA-Seq and ChIP-Seq Identification of Unique and Overlapping Target Genes and Pathways Regulated by TBX4 in Human Pulmonary Fibroblasts and Pericytes

利用RNA-Seq和ChIP-Seq技术鉴定TBX4在人肺成纤维细胞和周细胞中调控的独特和重叠靶基因及通路

Cai, Ying; Yan, Ling; Cogan, Joy D; Hedges, Lora K; Nunley, Bethany; Negretti, Nick; Sucre, Jennifer M S; West, James; Austin, Eric D; Hamid, Rizwan