值得关注的是，上海学者2022年发表的一项基于英国生物样本库的研究发现，对于2型糖尿病患者来说，睡眠时间过长或过短，均与心血管病和死亡风险增加独立相关。研究显示，与每天平均睡眠时间为7小时者相比，每天睡眠时间≤5小时者中动脉粥样硬化性心血管病、冠心病 ...

Whole-exome sequencing can provide insight into the relationship between observed clinical phenotypes and underlying genotypes. We conducted a retrospective analysis of data from a series of 7374 ...

We assessed whether alteration in CFTR function is responsible for the entire spectrum of variant cystic fibrosis phenotypes. Extensive genetic analysis of the CFTR gene was performed in 74 ...

In acute respiratory distress syndrome (ARDS), inflammatory phenotypes can be classified at the bedside in real time in a real-world setting.

The FH-d PV cohort's cancer phenotype resembled an FH wild-type control cohort. In this study, we compare the phenotypes of individuals with FH PVs to individuals with FH-d–associated alleles (FH-d PV ...

After modern humans left Africa, they met and interbred with Neanderthals, resulting in around 2–3% Neanderthal DNA that can be found in the genomes of all people outside Africa today. However ...

Objective To assess the co-occurrence and clustering of post-concussive symptoms in children, and to identify distinct patient phenotypes based on symptom type and severity. Methods We performed a ...

De Meo E, Portaccio E, Giorgio A, et al. Identifying the distinct cognitive phenotypes in Multiple Sclerosis. JAMA Neurol . Published online January 4, 2021. doi: 10.1001/jamaneurol.2020.4920 ...

We focus on the discovery of gene effects and networks in complex human phenotypes. Our major projects are dyslexia, early embryonic development, psoriasis, and rare immune deficiency diseases. There ...

The research, titled “Non-ionotropic signaling through the NMDA receptor GluN2B carboxy-terminal domain drives dendritic spine plasticity and reverses fragile X phenotypes,” was published in ...