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

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

Convolutional neural network-based differentiation of intraocular inflammatory cells with ultrahigh-resolution OCT

基于卷积神经网络的超高分辨率OCT眼内炎症细胞鉴别

Hong, Jiachi; Chen, Siyu; Pohodich, Amy; Gill, Tejpal; Song, Xubo; Jian, Yifan; Suhler, Eric; Huang, David; Li, Yan

Disruption of MeCP2-TCF20 complex underlies distinct neurodevelopmental disorders

MeCP2-TCF20 复合物的破坏是导致不同神经发育障碍的根本原因

Jian Zhou, Hamdan Hamdan, Hari Krishna Yalamanchili, Kaifang Pang, Amy E Pohodich, Joanna Lopez, Yingyao Shao, Juan A Oses-Prieto, Lifang Li, Wonho Kim, Mark A Durham, Sameer S Bajikar, Donna J Palmer, Philip Ng, Michelle L Thompson, E Martina Bebin, Amelie J Müller, Alma Kuechler, Antje Kampmeier, 

Apparent bias toward long gene misregulation in MeCP2 syndromes disappears after controlling for baseline variations

在控制基线变异后,MeCP2综合征中明显的长基因失调偏倚消失了。

Raman, Ayush T; Pohodich, Amy E; Wan, Ying-Wooi; Yalamanchili, Hari Krishna; Lowry, William E; Zoghbi, Huda Y; Liu, Zhandong

Forniceal deep brain stimulation induces gene expression and splicing changes that promote neurogenesis and plasticity

穹窿深部脑刺激诱导基因表达和剪接变化,促进神经发生和可塑性

Amy E Pohodich, Hari Yalamanchili, Ayush T Raman, Ying-Wooi Wan, Michael Gundry, Shuang Hao, Haijing Jin, Jianrong Tang, Zhandong Liu, Huda Y Zoghbi

Rett syndrome: disruption of epigenetic control of postnatal neurological functions

雷特综合征:出生后神经功能表观遗传调控紊乱

Pohodich, Amy E; Zoghbi, Huda Y