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

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

非编码RNA基因RNU4-2的双等位基因变异会导致一种隐性遗传的神经发育综合征,并伴有明显的白质改变。

Rius, Rocio; Blakes, Alexander J M; Chen, Yuyang; De Jonghe, Joachim; Lecoquierre, François; Dawes, Ruebena; Cogne, Benjamin; Kim, Hyung Chul; Alvi, Javeria R; Amblard, Florence; Ansari, Morad; Arlt, Annabelle; Austin-Tse, Christina; Baer, Sarah; Balasubramanian, Meena; Balton, Elsa V; Barcia, Giulia; Beleza-Meireles, Ana; Bernstein, Jonathan A; Beygo, Jasmin; Blanc, Pierre; Bramswig, Nuria C; Braun, Frederik; Buchzik, Daniel; Calame, Daniel G; Campbell, Jamie; Coutton, Charles; Cunningham, Chloe A; Dargie, Nitsuh; Depienne, Christel; Dipple, Katrina M; Dieux, Anne; Dixit, Abhijit; Dreyer, Lauren; Du, Haowei; El Chehadeh, Salima; Field, Michael; Ewans, Lisa J; Geiger, Vanessa; Gibbs, Richard A; Glass, Ian; Grunewald, Olivier; Gueguen, Paul; Haack, Tobias B; Hadj Abdallah, Hamza; Harbuz, Radu; Helbig, Ingo; Horvath, Judit; Hustinx, Alexander; Isidor, Bertrand; Jacquemont, Marie-Line; Jamie, Fraser; Jeanne, Médéric; Kessler, Riley; Klinkhammer, Hannah; Korenke, G Christoph; Kotzaeridou, Urania; Krawitz, Peter; Laurie, Steven; Leventer, Richard J; Levy, Rebecca J; Lupski, James R; Marijon, Pierre; McGinnis, Kaitlin E; Mendez, Rodrigo; Messaoud, Olfa; Nava, Caroline; Nizard, Mevyn; O'Donnell-Luria, Anne; O'Leary, Melanie C; Olivieri, Simone; Parida, Amitav; Pehlivan, Davut; Prentice, Anna Jenne; Posey, Jennifer E; Reuter, Chloe M; Satre, Véronique; Schluth-Bolard, Caroline; Smol, Thomas; Sultan, Tipu; Taylor, John; Thauvin-Robinetvin, Christel; Thevenon, Julien; Uebergang, Eloise; Ueberberg, Sandra; Vincent-Delorme, Catherine; Wassmer, Evangeline; Westwood, Emma; Wheeler, Matthew T; Gulec, Elif Yilmaz; Vanderver, Adeline; Vossough, Arastoo; Sanders, Stephan J; Banka, Siddharth; Findlay, Gregory M; MacArthur, Daniel G; Simons, Cas; Whiffin, Nicola

A pattern-learning algorithm associates copy number variations with brain structure and behavioural variables in an adolescent population cohort

模式学习算法将拷贝数变异与青少年人群队列的大脑结构和行为变量联系起来

Kopal, Jakub; Huguet, Guillaume; Marotta, Justin; Aggarwal, Shambhavi; Osayande, Nicole; Kumar, Kuldeep; Saci, Zohra; Jean-Louis, Martineau; Chai, Xiaoqian J; Ge, Tian; Yeo, B T Thomas; Thompson, Paul M; Bearden, Carrie E; Andreassen, Ole A; Jacquemont, Sébastien; Bzdok, Danilo

Linking rare variants to cell-type function in profound autism with brain transcriptomics and foundation models

利用脑转录组学和基础模型,将罕见变异与重度自闭症中的细胞类型功能联系起来

Dubuc, Alma; Renne, Thomas; Huguet, Guillaume; Jacquemont, Sébastien; Nowakowski, Tomasz

Behavioral Phenotype Associations With Resting State EEG Signal Complexity and Power Spectral Density in Fragile X Syndrome

脆性X综合征患者静息态脑电信号复杂性和功率谱密度与行为表型的关联

Proteau-Lemieux, Mélodie; Knoth, Inga S; Davoudi, Saeideh; Buckser, Rae; Martin, Charles-Olivier; Bélanger, Anne-Marie; Fontaine, Valérie K; Biag, Hazel Maridith Barlahan; Abbeduto, Leonard; Jacquemont, Sébastien; Hessl, David; Hagerman, Randi J; Schneider, Andrea; Bolduc, François V; Lippé, Sarah

The Association of Environmental Variables with Intelligence and Well-Being in Copy Number Variation (CNV) Carriers

环境因素与拷贝数变异(CNV)携带者智力和幸福感的相关性

Snihirova, Yelyzaveta; Jacquemont, Sebastien; Blokland, Gabriëlla; Guloksuz, Sinan; van, Therese Amelsvoort; Linden, David

Genetic and Cortical Cell-Type Liability Architecture of Autism

自闭症的遗传和皮层细胞类型易感性结构

Renne, Thomas; Benitière, Florian; Poulain, Cécile; Dubuc, Alma; Bourque, Vincent-Raphaël; Huguet, Guillaume; Nowakowski, Tomasz; Jacquemont, Sébastien

Genetic insights on the mechanisms of human cortical folding

人类皮层折叠机制的遗传学见解

Snyder, William; Shafee, Rebecca; Liu, Siyuan; Levitis, Elizabeth; Duan, Kuaikuai; Kumar, Kuldeep; Schleifer, Charles H; Boen, Rune; Ching, Christopher Rk; Han, Joan C; Lee, Nancy; Mulle, Jennifer G; Shultz, Sarah; Jacquemont, Sébastien; Bearden, Carrie E; Vértes, Petra E; Bullmore, Edward T; Raznahan, Armin

Genomic and Developmental Models to Predict Cognitive and Adaptive Outcomes in Autistic Children

利用基因组和发育模型预测自闭症儿童的认知和适应性结果

Bourque, Vincent-Raphaël; Schmilovich, Zoe; Huguet, Guillaume; England, Jade; Okewole, Adeniran; Poulain, Cécile; Renne, Thomas; Jean-Louis, Martineau; Saci, Zohra; Zhang, Xinhe; Rolland, Thomas; Labbé, Aurélie; Vorstman, Jacob; Rouleau, Guy A; Baron-Cohen, Simon; Mottron, Laurent; Bethlehem, Richard A I; Warrier, Varun; Jacquemont, Sébastien

Copy number variants and the tangential expansion of the cerebral cortex

拷贝数变异与大脑皮层的切向扩张

Liao, Zhijie; Kumar, Kuldeep; Kopal, Jakub; Huguet, Guillaume; Saci, Zohra; Jean-Louis, Martineau; Pausova, Zdenka; Jurisica, Igor; Bearden, Carrie E; Jacquemont, Sebastien; Paus, Tomas

Neurocognitive profiles of 22q11.2 and 16p11.2 deletions and duplications

22q11.2 和 16p11.2 缺失和重复的神经认知特征

Gur, Ruben C; Bearden, Carrie E; Jacquemont, Sebastien; Swillen, Ann; van Amelsvoort, Therese; van den Bree, Marianne; Vorstman, Jacob; Sebat, Jonathan; Ruparel, Kosha; Gallagher, Robert Sean; McClellan, Emily; White, Lauren; Crowley, Terrence Blaine; Giunta, Victoria; Kushan, Leila; O'Hora, Kathleen; Verbesselt, Jente; Vandensande, Ans; Vingerhoets, Claudia; van Haelst, Mieke; Hall, Jessica; Harwood, Janet; Chawner, Samuel J R A; Patel, Nishi; Palad, Katrina; Hong, Oanh; Guevara, James; Martin, Charles Olivier; Jizi, Khadije; Bélanger, Anne-Marie; Scherer, Stephen W; Bassett, Anne S; McDonald-McGinn, Donna M; Gur, Raquel E