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

Splicing and frameshift variants in QSER1 may be involved in developmental phenotypes

QSER1中的剪接和移码变异可能与发育表型有关。

Fischer, Megan C; Reis, Linda M; Lenberg, Jerica; Friedman, Jennifer; Seese, Sarah E; Muheisen, Sanaa; Writzl, Karin; Golob, Barbara; Peterlin, Borut; Semina, Elena V

Further Evidence for a Possible Role for ZFHX4 in Human Ocular Development and Disease

ZFHX4在人类眼部发育和疾病中可能发挥作用的进一步证据

Reis, Linda M; Zaidman, Gerald W; Thompson, Samuel; Muheisen, Sanaa; Glaser, Tom; Semina, Elena V

Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development

MAB21L2 上游的缺失凸显了进化保守的非编码序列对眼睛发育的重要性

Fabiola Ceroni #, Munevver B Cicekdal #, Richard Holt #, Elena Sorokina #, Nicolas Chassaing, Samuel Clokie, Thomas Naert, Lidiya V Talbot, Sanaa Muheisen, Dorine A Bax, Yesim Kesim, Emma C Kivuva, Catherine Vincent-Delorme, Soeren S Lienkamp, Julie Plaisancié, Elfride De Baere, Patrick Calvas, Kris

Identification of HSPA8 as an interacting partner of MAB21L2 and an important factor in eye development

确定 HSPA8 是 MAB21L2 的相互作用伙伴,也是眼睛发育的重要因素

Sarah E Seese, Sanaa Muheisen, Natalie Gath, Jeffrey M Gross, Elena V Semina

CRISPR-Cas9-mediated functional dissection of the foxc1 genomic region in zebrafish identifies critical conserved cis-regulatory elements

CRISPR-Cas9 介导的斑马鱼 foxc1 基因组区域功能性解剖鉴定出关键的保守顺式调控元件

Jesús-José Ferre-Fernández, Sanaa Muheisen, Samuel Thompson, Elena V Semina

Genetic disruption of zebrafish mab21l1 reveals a conserved role in eye development and affected pathways.

斑马鱼 mab21l1 基因的破坏揭示了其在眼睛发育中的保守作用以及受影响的通路

Seese Sarah E, Deml Brett, Muheisen Sanaa, Sorokina Elena, Semina Elena V

De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome

WDR37基因的新生错义变异导致严重的全身性综合征

Reis, Linda M; Sorokina, Elena A; Thompson, Samuel; Muheisen, Sanaa; Velinov, Milen; Zamora, Carlos; Aylsworth, Arthur S; Semina, Elena V

PITX2 deficiency and associated human disease: insights from the zebrafish model

PITX2 缺乏症和相关人类疾病:来自斑马鱼模型的见解

Kathryn E Hendee, Elena A Sorokina, Sanaa S Muheisen, Linda M Reis, Rebecca C Tyler, Vujica Markovic, Goran Cuturilo, Brian A Link, Elena V Semina

Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome

斑马鱼中人类 β3-葡萄糖基转移酶 B3GLCT 基因突变的功能特征分析

Eric Weh, Hideyuki Takeuchi, Sanaa Muheisen, Robert S Haltiwanger, Elena V Semina

EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model

脊椎动物EFTUD2缺陷:鉴定一种新的人类突变并构建斑马鱼模型

Deml, Brett; Reis, Linda M; Muheisen, Sanaa; Bick, David; Semina, Elena V