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

A Zebrafish Model for a Rare Genetic Disease Reveals a Conserved Role for FBXL3 in the Circadian Clock System

斑马鱼罕见遗传病模型揭示FBXL3在生物钟系统中的保守作用

Confino, Shir; Dor, Talya; Tovin, Adi; Wexler, Yair; Ben-Moshe Livne, Zohar; Kolker, Michaela; Pisanty, Odelia; Park, Sohyun Kathy; Geyer, Nathalie; Reiter, Joel; Edvardson, Shimon; Mor-Shaked, Hagar; Elpeleg, Orly; Vallone, Daniela; Appelbaum, Lior; Foulkes, Nicholas S; Gothilf, Yoav

Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy

基于细胞的 CAD 变异分析可识别可能从尿苷疗法中获益的个体

Francisco Del Caño-Ochoa #, Bobby G Ng #, Malak Abedalthagafi, Mohammed Almannai, Ronald D Cohn, Gregory Costain, Orly Elpeleg, Henry Houlden, Ehsan Ghayoor Karimiani, Pengfei Liu, M Chiara Manzini, Reza Maroofian, Michael Muriello, Ali Al-Otaibi, Hema Patel, Edvardson Shimon, V Reid Sutton, Mehran

Protection or susceptibility to devastating childhood epilepsy: Nodding Syndrome associates with immunogenetic fingerprints in the HLA binding groove

对毁灭性儿童癫痫的保护或易感性:点头综合征与HLA结合槽中的免疫遗传特征相关

Benedek, Gil; Abed El Latif, Mahmoud; Miller, Keren; Rivkin, Mila; Ramadhan Lasu, Ally Ahmed; Riek, Lul P; Lako, Richard; Edvardson, Shimon; Alon, Sagit-Arbel; Galun, Eithan; Levite, Mia

Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy

参与微管蛋白去谷氨酰化的AGTPBP1基因的双等位基因变异与小脑变性和运动神经病变相关。

Sheffer, Ruth; Gur, Michal; Brooks, Rebecca; Salah, Somaya; Daana, Muhannad; Fraenkel, Nitay; Eisenstein, Eli; Rabie, Malcolm; Nevo, Yoram; Jalas, Chaim; Elpeleg, Orly; Edvardson, Shimon; Harel, Tamar

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

DHX30基因的新生错义突变会损害整体翻译并导致神经发育障碍

Lessel, Davor; Schob, Claudia; Küry, Sébastien; Reijnders, Margot R F; Harel, Tamar; Eldomery, Mohammad K; Coban-Akdemir, Zeynep; Denecke, Jonas; Edvardson, Shimon; Colin, Estelle; Stegmann, Alexander P A; Gerkes, Erica H; Tessarech, Marine; Bonneau, Dominique; Barth, Magalie; Besnard, Thomas; Cogné, Benjamin; Revah-Politi, Anya; Strom, Tim M; Rosenfeld, Jill A; Yang, Yaping; Posey, Jennifer E; Immken, LaDonna; Oundjian, Nelly; Helbig, Katherine L; Meeks, Naomi; Zegar, Kelsey; Morton, Jenny; The Ddd Study; Schieving, Jolanda H; Claasen, Ana; Huentelman, Matthew; Narayanan, Vinodh; Ramsey, Keri; Brunner, Han G; Elpeleg, Orly; Mercier, Sandra; Bézieau, Stéphane; Kubisch, Christian; Kleefstra, Tjitske; Kindler, Stefan; Lupski, James R; Kreienkamp, Hans-Jürgen

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

编码含TBC1结构域激酶的TBCK基因突变会导致一种可识别的综合征,其特征是智力障碍和肌张力低下。

Bhoj, Elizabeth J; Li, Dong; Harr, Margaret; Edvardson, Shimon; Elpeleg, Orly; Chisholm, Elizabeth; Juusola, Jane; Douglas, Ganka; Guillen Sacoto, Maria J; Siquier-Pernet, Karine; Saadi, Abdelkrim; Bole-Feysot, Christine; Nitschke, Patrick; Narravula, Alekhya; Walke, Maria; Horner, Michele B; Day-Salvatore, Debra-Lynn; Jayakar, Parul; Vergano, Samantha A Schrier; Tarnopolsky, Mark A; Hegde, Madhuri; Colleaux, Laurence; Crino, Peter; Hakonarson, Hakon

Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy.

脊髓运动神经病患者由于 RBM7 纯合突变导致 RNA 代谢改变

Giunta Michele, Edvardson Shimon, Xu Yaobo, Schuelke Markus, Gomez-Duran Aurora, Boczonadi Veronika, Elpeleg Orly, Müller Juliane S, Horvath Rita

Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2

与线粒体乌头酸酶(ACO2)突变相关的婴儿小脑视网膜变性

Spiegel, Ronen; Pines, Ophry; Ta-Shma, Asaf; Burak, Efrat; Shaag, Avraham; Halvardson, Jonatan; Edvardson, Shimon; Mahajna, Muhammad; Zenvirt, Shamir; Saada, Ann; Shalev, Stavit; Feuk, Lars; Elpeleg, Orly

Functional consequences and structural interpretation of mutations of human choline acetyltransferase

人类胆碱乙酰转移酶突变的功能后果和结构解释

Shen, Xin-Ming; Crawford, Thomas O; Brengman, Joan; Acsadi, Gyula; Iannaconne, Susan; Karaca, Emin; Khoury, Chaouky; Mah, Jean K; Edvardson, Shimon; Bajzer, Zeljko; Rodgers, David; Engel, Andrew G