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

Interpretable Fine-tuned Large Language Models Facilitate Making Genetic Test Decisions for Rare Diseases

可解释的精细化大型语言模型有助于罕见病基因检测决策

Nguyen, Quan M; Chen, Fangyi; Liu, Cong; Campbell, Ian M; Zhang, Gongbo; Wu, Da; Szigety, Katherine M; Sheppard, Sarah E; Ahimaz, Priyanka; Ta, Casey N; Chung, Wendy K; Weng, Chunhua; Wang, Kai

Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome

FASTKD5基因的双等位基因突变与细胞色素c氧化酶缺乏症以及早发型或晚发型莱氏综合征相关。

Antonicka, Hana; Weraarpachai, Woranontee; Szigety, Katherine M; Kopajtich, Robert; Gibson, James B; Van Hove, Johan L K; Friederich, Marisa W; Lopriore, Piervito; Neuhofer, Christiane; Van Hove, Roxanne A; Cole, Michel A; Reisdorph, Richard; Peterson, James T; Dempsey, Katherine J; Ganetzky, Rebecca D; Mancuso, Michelangelo; Prokisch, Holger; Shoubridge, Eric A

Automatic genetic phenotype normalization from dysmorphology physical examinations: an overview of the BioCreative VIII-Task 3 competition

基于畸形体格检查的自动遗传表型标准化:BioCreative VIII-Task 3 竞赛概述

Weissenbacher, Davy; Zhao, Xinwei; Priestley, Jessica R C; Szigety, Katherine M; Schmidt, Sarah F; O'Connor, Karen; Soysal, Ekin; Roberts, Kirk; Qi, Jiewei; Luo, Ling; Yang, Zhihao; Lin, Hongfei; Kim, Hajung; Kim, Chanhwi; Sohn, Jiwoong; Beck, Tim; Rei, Marek; Kim, Sunkyu; Simpson, T Ian; Posma, Joram M; Lain, Antoine; Sung, Mujeen; Kang, Jaewoo; Alhassan, Areej; Schlegel, Viktor; Aloud, Monira; Batista-Navarro, Riza; Nenadic, Goran; Lin, Ying-Jia; Feng, Zhi-Quan; Kao, Hung-Yu; Campbell, Ian M; Gonzalez-Hernandez, Graciela

Prospective Analysis of Arteriovenous Fistula Performance in the Context of Competing Risks

在竞争风险背景下对动静脉瘘性能进行前瞻性分析

Ghimire, Anukul; Lloyd, Anita M; Szigety, Susan; Merino, Jose Luis; Alibhai, Karim; Winkelaar, Gerrit; Quinn, Robert R; Tonelli, Marcello

Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders

基于表型的分子遗传学检测建议在儿童罕见病诊断中的应用

Chen, Fangyi; Ahimaz, Priyanka; Nguyen, Quan M; Lewis, Rachel; Chung, Wendy K; Ta, Casey N; Szigety, Katherine M; Sheppard, Sarah E; Campbell, Ian M; Wang, Kai; Weng, Chunhua; Liu, Cong

Cell-autonomous requirement for ACE2 across organs in lethal mouse SARS-CoV-2 infection

致命性小鼠SARS-CoV-2感染中各器官对ACE2的细胞自主需求

Alan T Tang ,David W Buchholz ,Katherine M Szigety ,Brian Imbiakha ,Siqi Gao ,Maxwell Frankfurter ,Min Wang ,Jisheng Yang ,Peter Hewins ,Patricia Mericko-Ishizuka ,N Adrian Leu ,Stephanie Sterling ,Isaac A Monreal ,Julie Sahler ,Avery August ,Xuming Zhu ,Kellie A Jurado ,Mingang Xu ,Edward E Morrisey ,Sarah E Millar ,Hector C Aguilar ,Mark L Kahn

Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care

远程医疗儿科遗传护理的临床有效性

Szigety, Katherine M; Crowley, Terrence B; Gaiser, Kimberly B; Chen, Erin Y; Priestley, Jessica R C; Williams, Lydia S; Rangu, Sneha A; Wright, Christina M; Adusumalli, Priyanka; Ahrens-Nicklas, Rebecca C; Calderon, Brandon; Cuddapah, Sanmati R; Edmondson, Andrew; Ficicioglu, Can; Ganetzky, Rebecca; Kalish, Jennifer M; Krantz, Ian D; McDonald-McGinn, Donna M; Medne, Livija; Muraresku, Colleen; Pyle, Louise C; Zackai, Elaine H; Campbell, Ian M; Sheppard, Sarah E

Voicing Individual Concerns for Engagement in Hemodialysis (VOICE-HD): A Mixed Method, Randomized Pilot Trial of Digital Health in Dialysis Care Delivery

表达个人对血液透析参与的关切(VOICE-HD):一项混合方法随机试点试验,旨在探索数字健康在透析护理服务中的应用

Thompson, Stephanie; Schick-Makaroff, Kara; Bello, Aminu; Tonelli, Marcello; Wiebe, Natasha; Buzinski, Robert; Courtney, Mark; Szigety, Susan; Shah, Nikhil; Bohm, Clara

SARS-CoV-2 infection of olfactory epithelial cells and neurons drives acute lung injury and lethal COVID-19 in mice

SARS-CoV-2 感染嗅觉上皮细胞和神经元导致小鼠急性肺损伤和致命的 COVID-19

Alan T Tang, David W Buchholz, Katherine M Szigety, Brian Imbhiaka, Siqi Gao, Maxwell Frankfurter, Min Wang, Jisheng Yang, Peter Hewins, Patricia Mericko-Ishizuka, N Adrian Leu, Stephanie Sterling, Isaac A Monreal, Julie Sahler, Avery August, Xuming Zhu, Kellie A Jurado, Mingang Xu, Edward E Morrise

HDAC3 ensures stepwise epidermal stratification via NCoR/SMRT-reliant mechanisms independent of its histone deacetylase activity

HDAC3 通过依赖于 NCoR/SMRT 的机制确保表皮的逐步分层,而该机制与其组蛋白去乙酰化酶活性无关。

Szigety, Katherine M; Liu, Fang; Yuan, Chase Y; Moran, Deborah J; Horrell, Jeremy; Gochnauer, Heather R; Cohen, Ronald N; Katz, Jonathan P; Kaestner, Klaus H; Seykora, John T; Tobias, John W; Lazar, Mitchell A; Xu, Mingang; Millar, Sarah E