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

Novel therapeutics in autism spectrum disorder

自闭症谱系障碍的新疗法

Sara Daniella Kevelson; Elmaghraby, Rana; Patel, Fenil; Brown, Hallie; Gorenstein, Michelle; Bain, Jennifer; Grinspan, Zachary Michael; Pedapati, Ernie; Veenstra-VanderWeele, Jeremy; Vandana, Pankhuree

Clinical Actionability of Genetic Findings in Cerebral Palsy: A Systematic Review and Meta-Analysis

脑瘫基因检测结果的临床应用价值:系统评价和荟萃分析

Lewis, Sara A; Chopra, Maya; Cohen, Julie S; Bain, Jennifer M; Aravamuthan, Bhooma; Carmel, Jason B; Fahey, Michael C; Segel, Reeval; Wintle, Richard F; Zech, Michael; May, Halie; Haque, Nahla; Fehlings, Darcy; Srivastava, Siddharth; Kruer, Michael C

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

关于“CERT1突变通过破坏鞘脂稳态扰乱人类发育”一文的更正

Gehin, Charlotte; Lone, Museer A; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M; Gerkes, Erica H; Stegmann, Alexander Pa; López-Martín, Estrella; Bermejo-Sánchez, Eva; Martínez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Gräfe, Daniel; Knerr, Ina; Jones, Eppie R; Zamuner, Stefano; Abriata, Luciano A; Kunnathully, Vidya; Moeller, Brandon E; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; van Bon, Bregje W; Pfundt, Rolph; Willemsen, Marjolein H; Schieving, Jolanda H; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R; Beier, Christoph P; Larsen, Martin J; Valenzuela, Irene; Fernández-Álvarez, Paula; Xiong, Shiyi; Śmigiel, Robert; López-González, Vanesa; Armengol, Lluís; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Tran Mau-Them, Frederic; Maddocks, Alexis Br; Bain, Jennifer M; Bhat, Musadiq A; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L; Friez, Michael J; Richardson, Ellen B; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Gupta, Yask; Lim, Tze Y; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E; Jakšić, Ana Marija; McCabe, Brian D; De Los Rios, Paolo; Hornemann, Thorsten; D'Angelo, Giovanni; Gennarino, Vincenzo A

Impaired macroautophagy confers substantial risk for intellectual disability in children with autism spectrum disorders.

巨噬细胞自噬功能受损会给患有自闭症谱系障碍的儿童带来严重的智力障碍风险。

Ham Ahrom, Chang Audrey Yuen, Li Hongyu, Bain Jennifer M, Goldman James E, Sulzer David, Veenstra-VanderWeele Jeremy, Tang Guomei

RNF2 Missense Variants Disrupt Polycomb Repression and Enable Ectopic Mesenchymal Lineage Conversion During Human Neural Differentiation.

RNF2 错义变异破坏多梳蛋白抑制,并在人类神经分化过程中实现异位间充质谱系转化

Ryan Charles W, Regan Samantha L, Sheingold Jason B, Goswami Anupam, Mulhern Maureen, Ploeger Jonathan, Huang Samuel, Hartill Verity, Rippert Alyssa, Bhoj Elizabeth, Chung Wendy K, Bain Jennifer, Srivastava Kinshuk Raj, Bielas Stephanie L

Antisense oligonucleotide therapy in an individual with KIF1A-associated neurological disorder

反义寡核苷酸疗法治疗KIF1A相关神经系统疾病患者

Ziegler, Alban; Carroll, Joanne; Bain, Jennifer M; Sands, Tristan T; Fee, Robert J; Uher, David; Kanner, Cara H; Montes, Jacqueline; Glass, Sarah; Douville, Julie; Mignon, Laurence; Gleeson, Joseph G; Crooke, Stanley T; Chung, Wendy K

Positive Autism Screening Rates in Toddlers Born During the COVID-19 Pandemic

新冠疫情期间出生的幼儿自闭症筛查阳性率

Firestein, Morgan R; Manessis, Angela; Warmingham, Jennifer M; Xu, Ruiyang; Hu, Yunzhe; Finkel, Morgan A; Kyle, Margaret; Hussain, Maha; Ahmed, Imaal; Lavallée, Andréane; Solis, Ana; Chaves, Vitoria; Rodriguez, Cynthia; Goldman, Sylvie; Muhle, Rebecca A; Lee, Seonjoo; Austin, Judy; Silver, Wendy G; O'Reilly, Kally C; Bain, Jennifer M; Penn, Anna A; Veenstra-VanderWeele, Jeremy; Stockwell, Melissa S; Fifer, William P; Marsh, Rachel; Monk, Catherine; Shuffrey, Lauren C; Dumitriu, Dani

Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder

KIF1A相关神经系统疾病中,综合临床表型和纵向适应功能的异质性及其与错义基因型严重程度计算预测的相关性

Sudnawa, Khemika K; Li, Wenxing; Calamia, Sean; Kanner, Cara H; Bain, Jennifer M; Abdelhakim, Aliaa H; Geltzeiler, Alexa; Mebane, Caroline M; Provenzano, Frank A; Sands, Tristan T; Fee, Robert J; Montes, Jacqueline; Shen, Yufeng; Chung, Wendy K

Motor phenotypes associated with genetic neurodevelopmental disorders

与遗传性神经发育障碍相关的运动表型

Santana Almansa, Alexandra; Snyder, LeeAnne Green; Chung, Wendy K; Bain, Jennifer M; Srivastava, Siddharth

Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder

CTNNB1神经发育障碍的临床表型谱

Sudnawa, Khemika K; Garber, Alison; Cohen, Ryan; Calamia, Sean; Kanner, Cara H; Montes, Jacqueline; Bain, Jennifer M; Fee, Robert J; Chung, Wendy K