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

Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine Transport

SLC6A6基因变异导致牛磺酸转运受损的患者会出现早发性视网膜病变

Ullah, Mukhtar; Rehman, Atta Ur; Shetty, Madhur; Allen, Michael D; Ullah, Ehsan; Signorini, Sabrina G; des Roziers, Cyril Burin; Grijalva, Rosalie M; Rashid, Abdur; Munir, Asad; Porretta, Alessandra Pia; Valente, Enza Maria; Agather, Aime R; Dimopoulos, Ioannis; Hufnagel, Robert B; Malandain, Edouard; Coursimault, Juliette; Ansar, Muhammad; Antonarakis, Stylianos E; Superti-Furga, Andrea; Jan, Sanaullah; Brooks, Brian P; Calzetti, Giacomo; Guan, Bin; Quinodoz, Mathieu; Henry, L Keith; Rivolta, Carlo

The Developmental Landscape of Children With Uveal Coloboma and Its Relationship With Clinical Phenotype and Genetics

葡萄膜缺损患儿的发育概况及其与临床表型和遗传学的关系

Brooks, Brian P; Hehn, Alexandra T; Blain, Delphine; Farmer, Cristan; Joseph, Lisa A; Wiggs, Edythe; Segalà, Laura; Guan, Bin; Thurm, Audrey; Pathapadu, Ananya S

Loss of Hippo signaling causes transdifferentiation of neural retina between the optic fissure edges causing coloboma

Hippo信号通路缺失导致视裂边缘之间的神经视网膜发生转分化,从而引起视网膜缺损。

Neelathi, Uma M; Sanchez-Mendoza, Daniel; Steele, Sydney; Aguda, Rachel; Brooks, Brian P

Variants in NR6A1 cause a novel oculo vertebral renal syndrome

NR6A1基因变异导致一种新型眼椎肾综合征

Neelathi, Uma M; Ullah, Ehsan; George, Aman; Maftei, Mara I; Boobalan, Elangovan; Sanchez-Mendoza, Daniel; Adams, Chloe; McGaughey, David; Sergeev, Yuri V; Ai Rawi, Ranya; Naik, Amelia; Bender, Chelsea; Maumenee, Irene H; Michaelides, Michel; Tan, Tun Giap; Lin, Siying; Villasmil, Rafael; Blain, Delphine; Hufnagel, Robert B; Arno, Gavin; Young, Rodrigo M; Guan, Bin; Brooks, Brian P

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

TYROSINASE-Deficient Human Retinal Pigment Epithelium Exhibits Melanosome Maturation Defects

酪氨酸酶缺乏的人类视网膜色素上皮细胞表现出黑素体成熟缺陷

George, Aman; Pfister, Tyler; DeYoung, Charles; Sharma, Ruchi; Abu-Asab, Mones; Zou, Jizhong; Bharti, Kapil; Brooks, Brian P

A zebrafish model of crim1 loss of function has small and misshapen lenses with dysregulated clic4 and fgf1b expression.

斑马鱼 crim1 功能丧失模型的晶状体较小且形状异常,clic4 和 fgf1b 表达失调

Le Tien, Htun Stephanie, Pandey Manoj Kumar, Sun Yihui, Magnusen Albert Frank, Ullah Ehsan, Lauzon Julie, Beres Shannon, Lee Chung, Guan Bin, Hufnagel Robert B, Brooks Brian P, Baranzini Sergio E, Slavotinek Anne

Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPases

病例报告:眼部缺损与Rho家族小GTP酶成员CDC42基因中的一种新型错义变异相关

Brightman, Diana; Shinwari, Nawaal; Porollo, Aleksey; Dosunmu, Eniolami O; Ullah, Ehsan; Guan, Bin; Hufnagel, Robert B; Brooks, Brian P; Blain, Delphine; Fuhrmann, Sabine; Simpson, Brittany; Slavotinek, Anne M

Advances in machine learning for ABCA4-related retinopathy: segmentation and phenotyping

机器学习在ABCA4相关视网膜病变中的应用进展:分割和表型分析

Shwetar, Yousif J; Brooks, Brian P; Jeffrey, Brett G; Solomon, Benjamin D; Haendel, Melissa A

Cone Rod Homeobox (CRX): literature review and new insights

锥杆同源盒(CRX):文献综述及新见解

Leigh, Arnold; Swaroop, Anand; Kruczek, Kamil; Ullah, Ehsan; Brooks, Brian P