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

Amblyopia and adult health: a comprehensive analysis of long-term systemic, sensory and mental health comorbidities in a national cohort

弱视与成人健康:一项针对全国队列的长期系统性、感觉性和心理健康合并症的综合分析

Lee, Kyoung A Viola; Langholm, Carsten; Lin, Trevor; Jin, Kimberly; Aboobakar, Inas F; Oke, Isdin; Whitman, Mary C

Genome-Wide and Rare Variant Association Studies of Amblyopia in the All of Us Research Program

“我们所有人”研究计划中的弱视全基因组和罕见变异关联研究

Lee, Kyoung A Viola; Aboobakar, Inas F; Jain, Ashish; Tesdahl, Corey D; Jin, Kimberly; Oke, Isdin; Whitman, Mary C

Strabismus in Genetic Syndromes: A Review

遗传综合征中的斜视:综述

Kilic, Seyda; Bove, Jillian; So, Bethany Nahri; Whitman, Mary C

Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding Microarrays

利用人类测序、斑马鱼筛选和蛋白质结合微阵列技术鉴定眼部先天性颅神经运动神经元疾病的致病基因

Jurgens, Julie A; Matos Ruiz, Paola M; King, Jessica; Foster, Emma E; Berube, Lindsay; Chan, Wai-Man; Barry, Brenda J; Jeong, Raehoon; Rothman, Elisabeth; Whitman, Mary C; MacKinnon, Sarah; Rivera-Quiles, Cristina; Pratt, Brandon M; Easterbrooks, Teresa; Mensching, Fiona M; Di Gioia, Silvio Alessandro; Pais, Lynn; England, Eleina M; de Berardinis, Teresa; Magli, Adriano; Koc, Feray; Asakawa, Kazuhide; Kawakami, Koichi; O'Donnell-Luria, Anne; Hunter, David G; Robson, Caroline D; Bulyk, Martha L; Engle, Elizabeth C

Disrupted Motor Neuron and Neuromuscular Junction Development in an Albino Mice Model of Infantile Nystagmus.

白化小鼠婴儿眼球震颤模型中运动神经元和神经肌肉接头发育紊乱

Vemula Sampath, Osman Abdikheyre, Yang Xiguang, Aronchik Gabriel, Martinez Sanchez Mayra, Meher Nafiza, Whitman Mary C

Genome-Wide Association Study and Rare Variant Association Studies of Strabismus in the All of Us Research Program

“我们所有人”研究计划中的斜视全基因组关联研究和罕见变异关联研究

Lee, Kyoung A Viola; Tesdahl, Corey; Aboobakar, Inas F; Jain, Ashish; Martinez Sanchez, Mayra; Jin, Kimberly; Oke, Isdin; Whitman, Mary C

Novel structural variant in CACNA1F causing congenital stationary night blindness identified with whole genome sequencing

通过全基因组测序鉴定出导致先天性静止性夜盲症的 CACNA1F 基因新型结构变异

Martinez Sanchez, Mayra; Meher, Nafiza; DeBruyn, Hanna; Jain, Ashish; Sun, Liang; Gulkas, Samet; Altschwager, Pablo; Fulton, Anne; Whitman, Mary C

Rare and Common Genomic Copy Number Variants Associated with Strabismus and Amblyopia in the All of Us Research Program

“我们所有人”研究计划中与斜视和弱视相关的罕见和常见基因组拷贝数变异

Viola Lee, Kyoung A; Whitman, Mary C

Systematic phenotype and genotype characterization of Moebius syndrome

莫比乌斯综合征的系统性表型和基因型特征分析

Webb, Bryn D; Jurgens, Julie A; Narisu, Narisu; Zhang, Zhongyang; Barry, Brenda J; Van Ryzin, Carol; Bonnycastle, Lori L; Chan, Wai-Man; Yan, Tingfen; Di Gioia, Silvio Alessandro; Swift, Amy J; MacKinnon, Sarah E; Oystreck, Darren T; Rucker, Janet C; Frempong, Tamiesha; Whitman, Mary C; FitzGibbon, Edmond J; Lee, Janice S; Hao, Ke; Andrews, Caroline; Erazo, Monica; Facio, Flavia M; Shaaban, Sherin; Naidich, Thomas P; Chines, Peter S; Lehky, Tanya J; Toro, Camilo; Gropman, Andrea L; Butman, John A; Zalewski, Christopher K; Brewer, Carmen C; Thurm, Audrey; Snow, Joseph; Paul, Scott M; Brooks, Brian P; Pierpaoli, Carlo; Robson, Caroline D; Hunter, David G; Collins, Francis S; Jabs, Ethylin Wang; Engle, Elizabeth C; Manoli, Irini

Presence of Copy Number Variants Associated With Esotropia in Patients With Exotropia

外斜视患者中与内斜视相关的拷贝数变异的存在

Martinez Sanchez, Mayra; Chan, Wai-Man; MacKinnon, Sarah E; Barry, Brenda; Hunter, David G; Engle, Elizabeth C; Whitman, Mary C