Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome [0.03%]
70例意大利Phelan-McDermid综合症患者的临床、发育及血清素表型研究
Lisa Asta,Arianna Ricciardello,Francesca Cucinotta et al.
Lisa Asta et al.
Background: Phelan-McDermid syndrome (PMS) is caused by monoallelic loss or inactivation at the SHANK3 gene, located in human chr 22q13.33, and is often associated with Autism Spectrum Disorder (ASD). ...
X- vs. Y-chromosome influences on human behavior: a deep phenotypic comparison of psychopathology in XXY and XYY syndromes [0.03%]
从XXY和XYY综合症的心理病理学深表型对比分析X染色体与Y染色体对人类行为的影响
Lukas Schaffer,Srishti Rau,Isabella G Larsen et al.
Lukas Schaffer et al.
Background: Do different genetic disorders impart different psychiatric risk profiles? This question has major implications for biological and translational aspects of psychiatry, but has been difficult to tackle given li...
Association between rare, genetic variants linked to autism and ultrasonography fetal anomalies in children with autism spectrum disorder [0.03%]
自闭症罕见遗传变异与超声检查胎儿异常的关联研究
Ohad Regev,Apurba Shil,Tal Bronshtein et al.
Ohad Regev et al.
Background: Recent evidence suggests that certain fetal anomalies detected upon prenatal ultrasound screenings are associated with autism spectrum disorder (ASD). In this cross-sectional study, we aimed to identify geneti...
Commonly used genomic arrays may lose information due to imperfect coverage of discovered variants for autism spectrum disorder [0.03%]
常用的基因组阵列可能由于自闭症光谱障碍发现的变异体覆盖不完整而丢失信息
Michael Yao,Jason Daniels,Luke Grosvenor et al.
Michael Yao et al.
Background: Common genetic variation has been shown to account for a large proportion of ASD heritability. Polygenic scores generated for autism spectrum disorder (ASD-PGS) using the most recent discovery data, however, e...
Mélodie Proteau-Lemieux,Inga Sophia Knoth,Saeideh Davoudi et al.
Mélodie Proteau-Lemieux et al.
Background: Fragile X syndrome (FXS) and autism spectrum disorder (ASD) are neurodevelopmental conditions that often have a substantial impact on daily functioning and quality of life. FXS is the most common cause of inhe...
Project GIVE: using a virtual genetics service platform to reduce health inequities and improve access to genomic care in an underserved region of Texas [0.03%]
GIVE计划：使用虚拟遗传学服务平台减少健康不平等并改善得克萨斯州欠发达地区基因组护理的获取
Blake Vuocolo,Roberta Sierra,Daniel Brooks et al.
Blake Vuocolo et al.
Background: The utilization of genomic information to improve health outcomes is progressively becoming more common in clinical practice. Nonetheless, disparities persist in accessing genetic services among ethnic minorit...
Physiological and communicative emotional disconcordance in children on the autism spectrum [0.03%]
自闭症儿童的生理与交流情感不同步现象研究
Emma Finkel,Eric Sah,McKenna Spaulding et al.
Emma Finkel et al.
Background: Individuals on the autism spectrum commonly have differences from non-autistic people in expressing their emotions using communicative behaviors, such as facial expressions. However, it is not yet clear if thi...
The role of social motivation in sharing and fairness: insights from Williams syndrome [0.03%]
威廉斯综合征中的社会动机在分享和公平性中的作用：来自威廉姆斯综合症的见解
Francesca Foti,Floriana Costanzo,Carlo Fabrizio et al.
Francesca Foti et al.
Background: Sharing and fairness are important prosocial behaviors that help us navigate the social world. However, little is known about how and whether individuals with Williams Syndrome (WS) engage in these behaviors. ...
Unraveling neuronal and metabolic alterations in neurofibromatosis type 1 [0.03%]
解析神经纤维瘤病1型中的神经元和代谢改变
Valentina Botero,Seth M Tomchik
Valentina Botero
Neurofibromatosis type 1 (OMIM 162200) affects ~ 1 in 3,000 individuals worldwide and is one of the most common monogenetic neurogenetic disorders that impacts brain function. The disorder affects various organ systems, including the centra...
Altered individual-level morphological similarity network in children with growth hormone deficiency [0.03%]
生长激素缺乏儿童的个体形态相似性网络异常
Yanglei Cheng,Liping Lin,Weifeng Hou et al.
Yanglei Cheng et al.
Background: Accumulating evidences indicate regional grey matter (GM) morphology alterations in pediatric growth hormone deficiency (GHD); however, large-scale morphological brain networks (MBNs) undergo these patients re...