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

Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling

TMEM184B 的致病性变异会导致一种与代谢信号改变相关的神经发育综合征。

Chapman, Kimberly A; Ullah, Farid; Yahiku, Zachary A; Khan, Sheraz; Kodiparthi, Sri Varsha; Kellaris, Georgios; White, Hazel G; Powell, Andrew T; Correia, Sandrina P; Stödberg, Tommy; Sofocleous, Christalena; Marinakis, Nikolaos M; Fryssira, Helena; Tsoutsou, Eirini; Traeger-Synodinos, Jan; Accogli, Andrea; Sciruicchio, Vittorio; Salpietro, Vincenzo; Striano, Pasquale; Muss, Candace; Keren, Boris; Heron, Delphine; Berger, Seth I; Pond, Kelvin W; Sirimulla, Suman; Davis, Erica E; Bhattacharya, Martha R C

Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorder.

SNAPIN 基因编码逆行动力蛋白衔接蛋白,其双等位基因有害变异会导致产前发病的神经发育障碍。

Yousaf Hammad, de Koning Maayke A, Khan Kamal, Gilmore Kelly L, Hoffer Mariëtte J V, Kellaris Georgios, Lanone Sophie, Dagouassat Maylis, Ullah Farid, Adama van Scheltema Phebe N, Heron Delphine, Capri Yline, Kuechler Alma, Schweiger Bernd, Haak Monique C, Keren Boris, Tran Mau Them Frederic, Peeters-Scholte Cacha M P C D, Kaiser Frank J, Koopmann Tamara T, Mei Hailiang, Yalcin Binnaz, Depienne Christel, Vora Neeta L, Santen Gijs W E, Davis Erica E

Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome via alteration of metabolic signaling

TMEM184B 致病变异通过改变代谢信号引起神经发育综合征

Kimberly A Chapman, Farid Ullah, Zachary A Yahiku, Sri Varsha Kodiparthi, Georgios Kellaris, Sandrina P Correia, Tommy Stödberg, Christalena Sofokleous, Nikolaos M Marinakis, Helena Fryssira, Eirini Tsoutsou, Jan Traeger-Synodinos, Andrea Accogli, Vincenzo Salpietro, Pasquale Striano, Seth I Berger,

Biodegradable electrohydraulic actuators for sustainable soft robots.

用于可持续软体机器人的可生物降解电液致动器

Rumley Ellen H, Preninger David, Shagan Shomron Alona, Rothemund Philipp, Hartmann Florian, Baumgartner Melanie, Kellaris Nicholas, Stojanovic Andreas, Yoder Zachary, Karrer Benjamin, Keplinger Christoph, Kaltenbrunner Martin

The reference dependence roots of inaction inertia: A query theory account

不作为惯性的参考依赖根源:查询理论解释

Pogacar, Ruth; Brigden, Neil; Plant, Emily; Kardes, Frank R; Kellaris, James

A cross-disorder dosage sensitivity map of the human genome

人类基因组的跨疾病剂量敏感性图谱

Collins, Ryan L; Glessner, Joseph T; Porcu, Eleonora; Lepamets, Maarja; Brandon, Rhonda; Lauricella, Christopher; Han, Lide; Morley, Theodore; Niestroj, Lisa-Marie; Ulirsch, Jacob; Everett, Selin; Howrigan, Daniel P; Boone, Philip M; Fu, Jack; Karczewski, Konrad J; Kellaris, Georgios; Lowther, Chelsea; Lucente, Diane; Mohajeri, Kiana; Nõukas, Margit; Nuttle, Xander; Samocha, Kaitlin E; Trinh, Mi; Ullah, Farid; Võsa, Urmo; Hurles, Matthew E; Aradhya, Swaroop; Davis, Erica E; Finucane, Hilary; Gusella, James F; Janze, Aura; Katsanis, Nicholas; Matyakhina, Ludmila; Neale, Benjamin M; Sanders, David; Warren, Stephanie; Hodge, Jennelle C; Lal, Dennis; Ruderfer, Douglas M; Meck, Jeanne; Mägi, Reedik; Esko, Tõnu; Reymond, Alexandre; Kutalik, Zoltán; Hakonarson, Hakon; Sunyaev, Shamil; Brand, Harrison; Talkowski, Michael E

HASEL Artificial Muscles for a New Generation of Lifelike Robots-Recent Progress and Future Opportunities

HASEL人工肌肉:面向新一代仿真机器人的最新进展与未来机遇

Rothemund, Philipp; Kellaris, Nicholas; Mitchell, Shane K; Acome, Eric; Keplinger, Christoph

Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy

LIG3 中的双等位基因变异导致一种新型线粒体神经胃肠脑肌病

Elena Bonora, Sanjiban Chakrabarty, Georgios Kellaris, Makiko Tsutsumi, Francesca Bianco, Christian Bergamini, Farid Ullah, Federica Isidori, Irene Liparulo, Chiara Diquigiovanni, Luca Masin, Nicola Rizzardi, Mariapia Giuditta Cratere, Elisa Boschetti, Valentina Papa, Alessandra Maresca, Giovanna Ce

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome

BBS1 SVA F 逆转录转座子插入是 Bardet-Biedl 综合征的常见病因。

Delvallée, Clarisse; Nicaise, Samuel; Antin, Manuela; Leuvrey, Anne-Sophie; Nourisson, Elsa; Leitch, Carmen C; Kellaris, Georgios; Stoetzel, Corinne; Geoffroy, Véronique; Scheidecker, Sophie; Keren, Boris; Depienne, Christel; Klar, Joakim; Dahl, Niklas; Deleuze, Jean-François; Génin, Emmanuelle; Redon, Richard; Demurger, Florence; Devriendt, Koenraad; Mathieu-Dramard, Michèle; Poitou-Bernert, Christine; Odent, Sylvie; Katsanis, Nicholas; Mandel, Jean-Louis; Davis, Erica E; Dollfus, Hélène; Muller, Jean

Spider-Inspired Electrohydraulic Actuators for Fast, Soft-Actuated Joints

受蜘蛛启发的电动液压执行器,用于快速、软驱动的关节

Nicholas Kellaris, Philipp Rothemund, Yi Zeng, Shane K Mitchell, Garrett M Smith, Kaushik Jayaram, Christoph Keplinger