DeLuca Adam P相关文献与解析，生知库 | 链接生命科学的每一步

日期影响因子

Early-Onset Stargardt Disease Caused by Homozygosity of a Complex ABCA4 Allele from Eastern Africa: Two Case Reports

东非地区由复杂ABCA4等位基因纯合子引起的早发性斯塔加特病：两例病例报告

期刊:Case Reports in Ophthalmology

影响因子:0.6

doi:10.1159/000547387

Aslaksen, Sigrid; Bratland, Eirik; Bu, Mari Hamre; Aukrust, Ingvild; Bredrup, Cecilie; Flydal, Marte Innselset; DeLuca, Adam P; Andorf, Jeaneen L; Stone, Edwin M; Knappskog, Per Morten

发表日期：2025

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A Retrospective Longitudinal Study of 460 Patients with ABCA4-Associated Retinal Disease

一项对460例ABCA4相关视网膜疾病患者的回顾性纵向研究

期刊:Ophthalmology

影响因子:9.5

doi:10.1016/j.ophtha.2024.01.035

Fenner, Beau J; Whitmore, S Scott; DeLuca, Adam P; Andorf, Jean L; Daggett, Heather T; Luse, Meagan A; Haefeli, Lorena M; Riley, Janet B; Critser, Douglas B; Wilkinson, Mark E; Dumitrescu, Alina V; Drack, Arlene V; Boyce, Timothy M; Russell, Jonathan F; Binkley, Elaine M; Sohn, Elliott H; Russell, Stephen R; Boldt, H Culver; Mullins, Robert F; Tucker, Budd A; Scheetz, Todd E; Han, Ian C; Stone, Edwin M

发表日期：2024

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Demonstration of the pathogenicity of a common non-exomic mutation in ABCA4 using iPSC-derived retinal organoids and retrospective clinical data.

利用 iPSC 衍生的视网膜类器官和回顾性临床数据，证明 ABCA4 中常见非外显子突变的致病性

期刊:Human Molecular Genetics

影响因子:3.2

doi:10.1093/hmg/ddad176

Burnight Erin R, Fenner Beau J, Han Ian C, DeLuca Adam P, Whitmore S Scott, Bohrer Laura R, Andorf Jeaneen L, Sohn Elliott H, Mullins Robert F, Tucker Budd A, Stone Edwin M

发表日期：2024

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Using Goldmann Visual Field Volume to Track Disease Progression in Choroideremia

利用戈尔德曼视野容积法追踪脉络膜萎缩症的疾病进展

期刊:Ophthalmology Science

影响因子:4.6

doi:10.1016/j.xops.2023.100397

DeLuca, Adam P; Whitmore, S Scott; Tatro, Nicole J; Andorf, Jeaneen L; Faga, Ben P; Faga, Laurel A; Colins, Malia M; Luse, Meagan A; Fenner, Beau J; Stone, Edwin M; Scheetz, Todd E

发表日期：2023

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Modeling rod and cone photoreceptor cell survival in vivo using optical coherence tomography

利用光学相干断层扫描技术对体内视杆细胞和视锥细胞的光感受器存活情况进行建模

期刊:Scientific Reports

影响因子:3.9

doi:10.1038/s41598-023-33694-y

Whitmore, S Scott; DeLuca, Adam P; Andorf, Jeaneen L; Cheng, Justine L; Mansoor, Mahsaw; Fortenbach, Christopher R; Critser, D Brice; Russell, Jonathan F; Stone, Edwin M; Han, Ian C

细胞生物学

发表日期：2023

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AUTOIMMUNE RETINOPATHY MIMICKING HERITABLE RETINAL DEGENERATION IN A PATIENT WITH COMMON VARIABLE IMMUNE DEFICIENCY

自身免疫性视网膜病变在患有常见变异型免疫缺陷的患者中模拟遗传性视网膜变性

期刊:Retinal Cases and Brief Reports

doi:10.1097/ICB.0000000000000941

Wiley, Luke A; Binkley, Elaine M; DeLuca, Adam P; Workalemahu, Grefachew; Tatro, Nicole J; Luse, Meagan A; Kennedy, Elizabeth L; Folk, James C; Scheetz, Todd E; Ballas, Zuhair K; Tucker, Budd A; Mullins, Robert F; Han, Ian C; Stone, Edwin M

视网膜病变

免疫/内分泌

发表日期：2022

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Exome-based investigation of the genetic basis of human pigmentary glaucoma

基于外显子组学的人类色素性青光眼遗传基础研究

期刊:BMC Genomics

影响因子:3.7

doi:10.1186/s12864-021-07782-0

van der Heide, Carly; Goar, Wes; Meyer, Kacie J; Alward, Wallace L M; Boese, Erin A; Sears, Nathan C; Roos, Ben R; Kwon, Young H; DeLuca, Adam P; Siggs, Owen M; Gonzaga-Jauregui, Claudia; Sheffield, Val C; Wang, Kai; Stone, Edwin M; Mullins, Robert F; Anderson, Michael G; Fan, Bao Jian; Ritch, Robert; Craig, Jamie E; Wiggs, Janey L; Scheetz, Todd E; Fingert, John H

发表日期：2021

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Single-Cell RNA Sequencing in Human Retinal Degeneration Reveals Distinct Glial Cell Populations

人类视网膜变性中的单细胞RNA测序揭示了不同的神经胶质细胞群

影响因子:5.2

doi:10.3390/cells9020438

Voigt, Andrew P; Binkley, Elaine; Flamme-Wiese, Miles J; Zeng, Shemin; DeLuca, Adam P; Scheetz, Todd E; Tucker, Budd A; Mullins, Robert F; Stone, Edwin M

细胞生物学

发表日期：2020

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Spectacle: An interactive resource for ocular single-cell RNA sequencing data analysis

Spectacle：用于眼部单细胞RNA测序数据分析的交互式资源

期刊:Experimental Eye Research

影响因子:2.7

doi:10.1016/j.exer.2020.108204

Voigt, Andrew P; Whitmore, S Scott; Lessing, Nicholas D; DeLuca, Adam P; Tucker, Budd A; Stone, Edwin M; Mullins, Robert F; Scheetz, Todd E

细胞生物学

发表日期：2020

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Primary congenital and developmental glaucomas

原发性先天性青光眼和发育性青光眼

期刊:Human Molecular Genetics

影响因子:3.2

doi:10.1093/hmg/ddx205

Lewis, Carly J; Hedberg-Buenz, Adam; DeLuca, Adam P; Stone, Edwin M; Alward, Wallace L M; Fingert, John H

发育与干细胞

发表日期：2017

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