Brain functional connectivity correlates of autism diagnosis and familial liability in 24-month-olds [0.03%]
两岁婴儿自闭症诊断及家族史的脑功能连接特征研究
John R Pruett Jr,Alexandre A Todorov,Zoë W Hawks et al.
John R Pruett Jr et al.
Background: fcMRI correlates of autism spectrum disorder (ASD) diagnosis and familial liability were studied in 24-month-olds at high (older affected sibling) and low familial likelihood for ASD. ...
Identifying compound heterozygous variants in the EEFSEC gene linked to progressive cerebellar atrophy [0.03%]
EEFSEC基因复合杂合变异在进行性小脑萎缩中的鉴定
Zhen Liu,Mei He,Xuan Luo et al.
Zhen Liu et al.
Selenium, an essential micronutrient integrated into selenoproteins as selenocysteine, is fundamental to human health. These selenoproteins are vital for several physiological functions, including maintaining redox balance, safeguarding DNA...
Charting the future: current and future directions in translational research for individuals with Down syndrome [0.03%]
绘制未来：唐氏综合症个体转化研究的现状与未来方向
Katherine A Waugh,Heather M Wilkins,Keith P Smith et al.
Katherine A Waugh et al.
The most common genetic cause of intellectual and developmental disability is trisomy of human chromosome 21 (trisomy 21) or Down syndrome. Relative to the general population, individuals with Down syndrome heterogeneously experience atypic...
Novel ANKRD17 variants implicate synaptic and mitochondrial disruptions in intellectual disability and autism spectrum disorder [0.03%]
新型ANKRD17变异体暗示智力障碍和自闭症光谱障碍中的突触和线粒体紊乱
Dan Xia,Yuanyuan Xu,Zhanwen He et al.
Dan Xia et al.
ANKRD17 has recently been implicated in intellectual disability (ID) and autism spectrum disorder (ASD); however, the underlying molecular mechanisms remain unclear. Using trio whole-exome sequencing (Trio-WES) and chromosomal microarray an...
Diffusivity alterations related to cognitive performance and phenylalanine levels in early-treated adults with phenylketonuria [0.03%]
早期治疗的苯酮尿症成人认知表现和苯丙氨酸水平相关的扩散张量改变
Jèssica Pardo,Clara Capdevila-Lacasa,Bàrbara Segura et al.
Jèssica Pardo et al.
Background: Altered white matter (WM) is consistently reported in patients with phenylketonuria (PKU). However, the knowledge about WM microstructural integrity in early-treated adults with classical PKU and its relations...
Isabelle Dufour,Yohann Chiu,Sébastien Brodeur et al.
Isabelle Dufour et al.
Background: This study explored Trajectories of Diagnoses (TDs) preceding a first diagnosis of autism in adulthood. Methods: This retro...
Common and rare variant analyses implicate late-infancy cerebellar development and immune genes in ADHD [0.03%]
常见变异和罕见变异分析揭示了注意力缺陷多动障碍中晚婴儿期小脑发育和免疫基因的作用
Yuanxin Zhong,Larry W Baum,Justin D Tubbs et al.
Yuanxin Zhong et al.
Objective: Attention-deficit hyperactivity disorder (ADHD) is a common neuropsychiatric disorder with a significant genetic component. The latest genome-wide association study (GWAS) meta-analysis of ADHD identified 27 wh...
Developmental milestones and cognitive trajectories in school-aged children with 16p11.2 deletion [0.03%]
染色体16p11.2缺失患儿学龄期发育里程碑及认知轨迹特点
Jente Verbesselt,Jeroen Breckpot,Inge Zink et al.
Jente Verbesselt et al.
Background: 16p11.2 deletion syndrome (16p11.2DS) is a recurrent CNV that occurs de novo in approximately 70% of cases and confers risk for neurodevelopmental disorders, including intellectual disability (ID) and autism s...
Enhancing the discriminatory power of polygenic scores for ADHD and autism in clinical and non-clinical samples [0.03%]
提高注意力缺陷多动障碍和自闭症的多基因得分在临床样本与非临床样本中的鉴别能力
James J Li,Quanfa He,Stephen Dorn et al.
James J Li et al.
Background: Polygenic scores (PGS) are widely used in psychiatric genetic associations studies due to their predictive power for focal outcomes. However, they lack discriminatory power, in part due to the high degree of g...
Neural excitation/inhibition imbalance and neurodevelopmental pathology in human copy number variant syndromes: a systematic review [0.03%]
人类拷贝数变异综合征中神经兴奋/抑制失衡与神经发育病理的系统性综述
Amy L Sylvester,Eva Hensenne,Dimo Ivanov et al.
Amy L Sylvester et al.
Cumulative evidence suggests neurodevelopmental disorders are closely related. The risk of these disorders is increased by a series of copy number variant syndromes - phenotypically heterogeneous genetic disorders, present in a minority of ...