Polygenic Scores for Cognitive Abilities and Their Association with Different Aspects of General Intelligence—A Deep Phenotyping Approach
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Neurobiology"
DOI: 10.1007/s12035-021-02398-7
Abstract: Intelligence is a highly polygenic trait and genome-wide association studies (GWAS) have identified thousands of DNA variants contributing with small effects. Polygenic scores (PGS) can aggregate those effects for trait prediction in independent samples. As… read more here.
Keywords: intelligence; polygenic scores; scores cognitive; pgs ... See more keywords
Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care
Sign Up to like & getrecommendations! Published in 2021 at "Genetics in Medicine"
DOI: 10.1038/s41436-020-01053-1
Abstract: Purpose To understand the consequences of the 3q29 deletion on medical, neurodevelopmental, psychiatric, brain structural, and neurological sequalae by systematic evaluation of affected individuals. To develop evidence-based recommendations using these data for effective clinical care.… read more here.
Keywords: 3q29 deletion; deletion; phenotyping 3q29; deep phenotyping ... See more keywords
Deep phenotyping reveals movement phenotypes in mouse neurodevelopmental models
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Autism"
DOI: 10.1186/s13229-022-00492-8
Abstract: Background Repetitive action, resistance to environmental change and fine motor disruptions are hallmarks of autism spectrum disorder (ASD) and other neurodevelopmental disorders, and vary considerably from individual to individual. In animal models, conventional behavioral phenotyping… read more here.
Keywords: reveals movement; cntnap2 knockouts; deep phenotyping; phenotyping reveals ... See more keywords
Clinical Deep Phenotyping of ABCA7 Mutation Carriers
Sign Up to like & getrecommendations! Published in 2022 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000655
Abstract: Background and Objectives Putative loss-of-function (pLOF) ABCA7 variants that increase Alzheimer disease (AD) risk were identified; however, deep phenotypic characterization of these variants in mutation carriers is limited. We aimed to obtain deep clinical phenotypes… read more here.
Keywords: plof mutation; mutation carriers; abca7 plof; deep phenotyping ... See more keywords
Pearls & Oy-sters: Deep Phenotyping of Abnormal Eye Movements Advances the Detection of Gerstmann-Sträussler-Scheinker Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Neurology"
DOI: 10.1212/wnl.0000000000201321
Abstract: A 58-year-old previously healthy woman presents with 3 years of rapidly progressive ataxia, parkinsonism, dysautonomia, peripheral neuropathy, leg weakness, spasticity, hyperreflexia, and mild vertical-gaze palsy. She has a matrilineal family history of neurodegenerative diseases. She… read more here.
Keywords: deep phenotyping; ussler scheinker; eye movements; gerstmann str ... See more keywords
Knowledge discovery for Deep Phenotyping serious mental illness from Electronic Mental Health records
Sign Up to like & getrecommendations! Published in 2018 at "F1000Research"
DOI: 10.12688/f1000research.13830.2
Abstract: Background: Deep Phenotyping is the precise and comprehensive analysis of phenotypic features in which the individual components of the phenotype are observed and described. In UK mental health clinical practice, most clinically relevant information is… read more here.
Keywords: symptomatology; phenotyping serious; serious mental; deep phenotyping ... See more keywords
Deep Phenotyping of Parkinson’s Disease
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Parkinson's Disease"
DOI: 10.3233/jpd-202006
Abstract: Phenotype is the set of observable traits of an organism or condition. While advances in genetics, imaging, and molecular biology have improved our understanding of the underlying biology of Parkinson’s disease (PD), clinical phenotyping of… read more here.
Keywords: biology; parkinson disease; deep phenotyping;
Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2021.645595
Abstract: Chromosome-5p minus syndrome (5p-Sd, OMIM #123450) formerly known as Cri du Chat syndrome results from the loss of genetic material at the distal region of the short arm of chromosome 5. It is a neurodevelopmental… read more here.
Keywords: cohort; deep phenotyping; phenotyping genetic; minus syndrome ... See more keywords
Deep Phenotyping of T-Cells Derived From the Aneurysm Wall in a Pediatric Case of Subarachnoid Hemorrhage
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2022.866558
Abstract: Intracranial aneurysms (IAs) are very rare in children, and the characteristics of the T-cells in the IA wall are largely unknown. A comatose 7-years-old child was admitted to our center because of a subarachnoid hemorrhage… read more here.
Keywords: deep phenotyping; cd4 cd8; hemorrhage; wall ... See more keywords
Deep Phenotyping of Yield-Related Traits in Wheat
Sign Up to like & getrecommendations! Published in 2020 at "Agronomy"
DOI: 10.3390/agronomy10040603
Abstract: The complex formation of grain yield (GY) is related to multiple dry matter (DM) traits; however, due to their time-consuming determination, they are not readily accessible. In winter wheat (Triticum aestivum L.), both agronomic treatments… read more here.
Keywords: index; organ level; deep phenotyping; agronomic treatments ... See more keywords