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

Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia

DENND2B基因变异与神经发育障碍、精神病和紧张症的易感性相关。

Murthy, Harsha; Hoang, Ny; Stark, Jamie C; Cui, Sunny; Pannia, Emanuela; Tsoi, Chung Ting; Harris, Simon; Ceolin, C'airah; Verhaeghe, Lauren; Scholten, Sydney; Baribeau, Danielle; Summers, Jane; Costain, Gregory; Selvanayagam, Thanuja; Howe, Jennifer L; Lewis, M E Suzanne; Brunet, Theresa; Rieger, Susanne; Rosenfeld, Jill A; Craigen, William J; Burrage, Lindsay C; Christie, Michelle R; Baldwin, Deborah; Wentzensen, Ingrid M; Keren, Boris; Cogne, Benjamin; Isidor, Bertrand; Afenjar, Alexandra; Elshafie, Reem M; Bastaki, Laila; Alkanderi, Sumaya; Myers, Kenneth A; Demarest, Scott; Angione, Katie; Abbott, Megan; Campeau, Philippe M; Dowling, James J; Mendoza-Londono, Roberto; Scherer, Stephen W; Deshwar, Ashish R; Vorstman, Jacob

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

KDM6B相关神经发育障碍的临床和分子谱

Rots, Dmitrijs; Jakub, Taryn E; Keung, Crystal; Jackson, Adam; Banka, Siddharth; Pfundt, Rolph; de Vries, Bert B A; van Jaarsveld, Richard H; Hopman, Saskia M J; van Binsbergen, Ellen; Valenzuela, Irene; Hempel, Maja; Bierhals, Tatjana; Kortüm, Fanny; Lecoquierre, Francois; Goldenberg, Alice; Hertz, Jens Michael; Andersen, Charlotte Brasch; Kibæk, Maria; Prijoles, Eloise J; Stevenson, Roger E; Everman, David B; Patterson, Wesley G; Meng, Linyan; Gijavanekar, Charul; De Dios, Karl; Lakhani, Shenela; Levy, Tess; Wagner, Matias; Wieczorek, Dagmar; Benke, Paul J; Lopez Garcia, María Soledad; Perrier, Renee; Sousa, Sergio B; Almeida, Pedro M; Simões, Maria José; Isidor, Bertrand; Deb, Wallid; Schmanski, Andrew A; Abdul-Rahman, Omar; Philippe, Christophe; Bruel, Ange-Line; Faivre, Laurence; Vitobello, Antonio; Thauvin, Christel; Smits, Jeroen J; Garavelli, Livia; Caraffi, Stefano G; Peluso, Francesca; Davis-Keppen, Laura; Platt, Dylan; Royer, Erin; Leeuwen, Lisette; Sinnema, Margje; Stegmann, Alexander P A; Stumpel, Constance T R M; Tiller, George E; Bosch, Daniëlle G M; Potgieter, Stephanus T; Joss, Shelagh; Splitt, Miranda; Holden, Simon; Prapa, Matina; Foulds, Nicola; Douzgou, Sofia; Puura, Kaija; Waltes, Regina; Chiocchetti, Andreas G; Freitag, Christine M; Satterstrom, F Kyle; De Rubeis, Silvia; Buxbaum, Joseph; Gelb, Bruce D; Branko, Aleksic; Kushima, Itaru; Howe, Jennifer; Scherer, Stephen W; Arado, Alessia; Baldo, Chiara; Patat, Olivier; Bénédicte, Demeer; Lopergolo, Diego; Santorelli, Filippo M; Haack, Tobias B; Dufke, Andreas; Bertrand, Miriam; Falb, Ruth J; Rieß, Angelika; Krieg, Peter; Spranger, Stephanie; Bedeschi, Maria Francesca; Iascone, Maria; Josephi-Taylor, Sarah; Roscioli, Tony; Buckley, Michael F; Liebelt, Jan; Dagli, Aditi I; Aten, Emmelien; Hurst, Anna C E; Hicks, Alesha; Suri, Mohnish; Aliu, Ermal; Naik, Sunil; Sidlow, Richard; Coursimault, Juliette; Nicolas, Gaël; Küpper, Hanna; Petit, Florence; Ibrahim, Veyan; Top, Deniz; Di Cara, Francesca; Louie, Raymond J; Stolerman, Elliot; Brunner, Han G; Vissers, Lisenka E L M; Kramer, Jamie M; Kleefstra, Tjitske

Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus

DDX53基因的遗传变异与Xp22.11位点相关的自闭症谱系障碍有关。

Scala, Marcello; Bradley, Clarrisa A; Howe, Jennifer L; Trost, Brett; Salazar, Nelson Bautista; Shum, Carole; Mendes, Marla; Reuter, Miriam S; Anagnostou, Evdokia; MacDonald, Jeffrey R; Ko, Sangyoon Y; Frankland, Paul W; Charlebois, Jessica; Elsabbagh, Mayada; Granger, Leslie; Anadiotis, George; Pullano, Verdiana; Brusco, Alfredo; Keller, Roberto; Parisotto, Sarah; Pedro, Helio F; Lusk, Laina; McDonnell, Pamela Pojomovsky; Helbig, Ingo; Mullegama, Sureni V; Douine, Emilie D; Corona, Rosario Ivetth; Russell, Bianca E; Nelson, Stanley F; Graziano, Claudio; Schwab, Maria; Simone, Laurie; Zara, Federico; Scherer, Stephen W

Chromosome X-wide common variant association study in autism spectrum disorder

自闭症谱系障碍中X染色体常见变异关联研究

Mendes, Marla; Chen, Desmond Zeya; Engchuan, Worrawat; Leal, Thiago Peixoto; Thiruvahindrapuram, Bhooma; Trost, Brett; Howe, Jennifer L; Pellecchia, Giovanna; Nalpathamkalam, Thomas; Alexandrova, Roumiana; Salazar, Nelson Bautista; McKee, Ethan A; Rivera-Alfaro, Natalia; Lai, Meng-Chuan; Bandres-Ciga, Sara; Roshandel, Delnaz; Bradley, Clarrisa A; Anagnostou, Evdokia; Sun, Lei; Scherer, Stephen W

Human iPSC-derived glutamatergic neurons with pathogenic KCNQ2 variants display hyperactive bursting phenotypes

携带致病性KCNQ2变异的人类iPSC衍生谷氨酸能神经元表现出过度活跃的爆发性表型

Sundberg, Maria; Shum, Carole; Norabuena, Erika M; Makhortova, Nina R; Chen, Cidi; Yu, Lucy; Wightman, Emma V; Kim, Kristina; Han, Sang Yeon; Howe, Jennifer; Poduri, Annapurna; Buttermore, Elizabeth D; Scherer, Stephen W; Sahin, Mustafa

UBR5 loss-of-function variants in autism spectrum disorder and intellectual disability: case series and review of the literature

UBR5功能缺失变异与自闭症谱系障碍和智力障碍:病例系列及文献综述

Reuter, Miriam S; Salazar, Nelson Bautista; Howe, Jennifer L; Hoang, Ny; Sarikaya, Ege; Selvanayagam, Thanuja; Mendes de Aquino, Marla; Vicente, Astrid M; Oliveira, Guiomar; Freitag, Christine M; Thiruvahindrapuram, Bhooma; Trost, Brett; Scherer, Stephen W

Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study

基因组测序在自闭症临床应用中的价值:来自一项基因组研究的实例

Selvanayagam, Thanuja; Hoang, Ny; Sarikaya, Ege; Howe, Jennifer; Russell, Carolyn; Iaboni, Alana; Quirbach, Morgan; Marshall, Christian R; Szatmari, Peter; Anagnostou, Evdokia; Vorstman, Jacob; Hartley, Dean M; Scherer, Stephen W

Recombinant ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) decreases vascular calcification and prevents osteomalacia in a rat model of chronic kidney disease.

重组外核苷酸焦磷酸酶/磷酸二酯酶 1 (ENPP1) 可减少慢性肾病大鼠模型中的血管钙化并预防骨软化症

O'Brien Kevin, Laurion Lisa, Sullivan Caitlin, Howe Jennifer, Lynch Angela Malin, Cheng Zhiliang, Schrier Denis, Husson Hervé, Sabbagh Yves

Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing

利用长读长基因组测序解析自闭症谱系障碍中的复杂重复变异

Eisfeldt, Jesper; Higginbotham, Edward J; Lenner, Felix; Howe, Jennifer; Fernandez, Bridget A; Lindstrand, Anna; Scherer, Stephen W; Feuk, Lars

ENPP1 enzyme replacement therapy improves ectopic calcification but does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia.

ENPP1 酶替代疗法可改善异位钙化,但不能挽救颅骨干骺端发育不良小鼠模型的骨骼表型

Reichenberger Ernst J, O'Brien Kevin, Hatori Ayano, Carpenter Thomas O, van de Wetering Koen, Flaman Lisa, Howe Jennifer, Ortiz Daniel, Sabbagh Yves, Chen I-Ping