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

Assessment of In-Frame Indel Variants in an Unsolved Cohort of Inherited Retinal Diseases Using Machine Learning

利用机器学习评估未确诊遗传性视网膜疾病队列中的框内插入/缺失变异

Rauch, David E; Wang, Meng; Hafiz, Muhammad Jafar Hussain; Brock, Daniel C; Li, Yumei; Marra, Molly; Pennesi, Mark E; Yang, Paul; Lesley, Everett; Lopez, Irma; Koenekoop, Robert; Collantes, Edward Ryan; Bolinao, Joanne; Chen, Rui

Bi-allelic variants in AP5Z1 and AP5B1 lead to retinal degeneration

AP5Z1和AP5B1的双等位基因变异会导致视网膜退化

Hussain, Hafiz Muhammad Jafar; Wang, Meng; Yang, Paul; Tasharrofi, Behnoosh; Li, Yumei; Clark, Rebecca Lynn; Fale-Olsen, Emma; Waldow, Grace; Keramatipour, Mohammad; Asadollahi, Mostafa; Pennesi, Mark E; Chen, Rui

Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis

血液系统恶性肿瘤易感基因DDX41的双等位基因种系变异通过扰乱视网膜稳态导致视网膜营养不良。

Mars, Zoéline; Zanetti, Andrea; Kaminska, Karolina; Miyagawa, Takero; Liu, Duanya; Antonio, Aline; Arno, Gavin; Audo, Isabelle; Ayuso, Carmen; Muhammad Jafar Hussain, Hafiz; Bao, Xuan; Barberán-Martínez, Pilar; Bocquet, Béatrice; Boguszewska-Chachulska, Anna; Condroyer, Christel; David, Pierre; Dollfus, Hélène; Fares-Taie, Lucas; Fernández-Caballero, Lidia; García-García, Gema; Michel, Victor; Guerrera, Chiara Ida; Jung, Vincent; Kessel, Line; Gioja, Louise; Lin, Siying; Matczynska, Ewa; Millán, Jose M; Moye, Abigail R; Martín-Gutiérrez, M Pilar; Quinodoz, Mathieu; Robert, Matthieu P; Roger, Jerome E; Sousa-Luis, Rui; Swafiri, Saoud Tahsin; Teper, Slawomir; Meunier, Isabelle; Patat, Olivier; Pennesi, Mark E; Wadt, Karin A W; Wang, Meng; Webster, Andrew R; Yang, Paul; Yumei, Li; Zeitz, Christina; Rieux-Laucat, Frederic; Giraudier, Stéphane; Chen, Rui; Fica, Sebastian M; Rivolta, Carlo; Sebert, Marie; Rozet, Jean-Michel; Perrault, Isabelle

Editorial: Genes, cells, and macroenvironments: regulating the immune response in extreme conditions

社论:基因、细胞和宏观环境:极端条件下免疫反应的调控

Pennesi, Giuseppina

Effects of medications on the human electroretinogram: A comprehensive review

药物对人视网膜电图的影响:一项综合综述

Grassmeyer, Justin J; Pennesi, Mark E; Yang, Paul; Tschetter, Wayne; Everett, Lesley A

Variants in CFAP410 cause a range of retinal and skeletal phenotypes

CFAP410基因变异会导致一系列视网膜和骨骼表型。

Schmidt, Ryan E; Pohodich, Amy E; Birch, David; Jones, Kaylie; Lam, Byron L; Jung, Emily H; Jain, Nieraj; Georgiou, Michalis; Mahroo, Omar A; Webster, Andrew R; Michaelides, Michel; Bakall, Benjamin; Iannaccone, Alessandro; Vincent, Ajoy; Parameswarappa, Deepika C; Heon, Elise; Scholl, Hendrik P N; Janeschitz-Kriegl, Lucas; Traboulsi, Elias I; Zein, Wadih; Brooks, Brian P; Cukras, Catherine; Hufnagel, Robert; Aleman, Tomas S; Sylla, Mohamed M; Tsang, Stephen H; Alabek, Michelle; Sahel, Jose; Gorin, Michael B; van Genderen, Maria M; Stingl, Katarina; Reith, Milda; Kohl, Susanne; Amaral, Rebeca Azevedo Souza; Sallum, Juliana Maria Ferraz; Vincent, Andrea L; Hull, Sarah; Duncan, Jacque L; Hanson, James V M; Tedeus, Matthias; Maggi, Jordi; Graf, Urs; Koller, Samuel; Berger, Wolfgang; Gerth-Kahlert, Christina; Marra, Molly; Everett, Lesley A; Yang, Paul; Pennesi, Mark E

Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene Poll

阐明遗传性视网膜疾病的遗传基础:从“对抗失明基金会临床联盟”基因调查中汲取的经验教训

Branham, Kari; Samarakoon, Lassana; Audo, Isabelle; Ayala, Allison R; Cheetham, Janet K; Daiger, Stephen P; Dhooge, Patty; Duncan, Jacque L; Durham, Todd A; Fahim, Abigail T; Huckfeldt, Rachel M; Hufnagel, Robert B; Kohl, Susanne; Maldonado, Ramiro S; Melia, Michele; Michaelides, Michel; Pennesi, Mark E; Sahel, José-Alain; Sallum, Juliana M Ferraz; Singh, Mandeep S; Sharon, Dror; Stepien, Kimberly; Jones, Kaylie; Weng, Christina Y

Longitudinal Imaging of the Parafoveal Cone Mosaic in Congenital Achromatopsia

先天性全色盲患者中心凹旁锥体镶嵌结构的纵向成像

Chen, Nickolas; Litts, Katie M; Nikezic, Danica; Langlo, Christopher S; Higgins, Brian P; Lam, Byron L; Fishman, Gerald A; Collison, Frederick T; Pennesi, Mark E; Kay, Christine N; Tarima, Sergey; Carroll, Joseph

XOLARIS: A 24-Month, Prospective, Natural History Study of 201 Participants with Retinitis Pigmentosa GTPase Regulator-Associated X-Linked Retinitis Pigmentosa

XOLARIS:一项为期24个月的前瞻性自然史研究,纳入201名患有视网膜色素变性GTP酶调节因子相关X连锁视网膜色素变性的患者

MacLaren, Robert E; Duncan, Jacque L; Fischer, M Dominik; Lam, Byron L; Meunier, Isabelle; Pennesi, Mark E; Sankila, Eeva-Marja K; Gow, James A; Li, Jiang; Tsang, So-Fai

Visual Acuity, Full-field Stimulus Thresholds, and Electroretinography for 4 Years in The Rate of Progression of USH2A-related Retinal Degeneration (RUSH2A) Study

USH2A相关视网膜变性进展速度(RUSH2A)研究中4年的视力、全视野刺激阈值和视网膜电图检查

Birch, David G; Cheng, Peiyao; Maguire, Maureen G; Duncan, Jacque L; Ayala, Allison R; Cheetham, Janet K; Doucet, Nicole R; Durham, Todd A; Fahim, Abigail T; Ferris, Frederick L 3rd; Huckfeldt, Rachel M; Melia, Michele; Michaelides, Michel; Pennesi, Mark E; Sahel, José-Alain; Stingl, Katarina; Vincent, Ajoy; Weng, Christina Y