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SCI Abstract
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The functional polymorphisms linked with interleukin-1β gene expression are associated with bipolar disorder
Background Bipolar disorder (BD) is a severe psychiatric illness attributable to multifactorial r
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Maternal 15q11.2-q13.1 duplication syndrome-associated psychosis and mania: a new case and review of the literature
Maternal 15q11.2-q13.1 duplication syndrome is associated with a variety of developmental and neurop
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Familial KCNQ2 mutation: a psychiatric perspective
KCNQ2 mutations are a common cause of early-onset epileptic syndromes. They are associated with hete
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Causal association of attention-deficit/hyperactivity disorder and autism spectrum disorder with post-traumatic stress disorder
Background Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are
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Causal link between gut microbiome and schizophrenia: a Mendelian randomization study
Objective Some observational studies have shown that gut microbiome is significantly changed in p
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The ethics of polygenic scores in psychiatry: minefield or opportunity for patient-centered psychiatry?
Recent advancements in psychiatric genetics have sparked a lively debate on the opportunities and pi
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Whole-exome-based single nucleotide variants and copy number analysis for prenatal diagnosis of compound heterozygosity of SMPD4
Background Biallelic loss-of-function variants in SMPD4 cause a rare and severe neurodevelopmenta
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Could the 14q23.2 microdeletion or AKAP5 haploinsufficiency be a potential cause of intellectual disability?
Intellectual disability is characterized by impairment in at least two of the following areas: socia
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Chromatin gatekeeper and modifier CHD proteins in development, and in autism and other neurological disorders
Chromatin, a protein–DNA complex, is a dynamic structure that stores genetic information within the
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Two novel variants of the STXBP1 and CHRNB2 genes identified in a Chinese boy with refractory seizures and developmental delay
Autosomal dominant sleep-related hypermotor epilepsy is a rare disease caused by pathogenic variants
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A novel risk variant block across introns 36–45 of CACNA1C for schizophrenia: a cohort-wise replication and cerebral region-wide validation study
Objectives Numerous genome-wide association studies have identified CACNA1C as one of the top ris
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Case of twin achondroplasia and autism coexistence and literature review
Achondroplasia and autism spectrum disorder (ASD) are two genetically based disorders. The coexisten
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Genome-wide association study of antisocial personality disorder diagnostic criteria provides evidence for shared risk factors across disorders
Introduction While progress has been made in determining the genetic basis of antisocial behaviou
Psychiatric Genetics
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Chromosomal rearrangement in the 22q11.2 region: a critical locus for sociability and attentional skills
Rearrangements of 22q11.2 region, most often deletions and duplications, are responsible for multipl
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‘A child with Malpuech–Michels–Mingarelli–Carnevale syndrome and ADHD and major depressive disorder’
Malpuech–Michels–Mingarelli–Carnevale (3MC) syndrome, is a rare genetic condition resulting from the
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The therapygenetics of anxiety disorders
Treatment of anxiety disorders primarily includes pharmacological treatment and psychotherapy, yet a
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Depression and sarcopenia: a Mendelian randomization analysis
Background The association between depression and sarcopenia has been reported in observational s
Psychiatric Genetics
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Schizophrenia polygenic risk score and type 2 diabetes onset in older adults with no schizophrenia diagnosis
Objectives An association between type 2 diabetes (T2DM) and schizophrenia has long been observed
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Analysis of convergence of linkage and association studies in autism spectrum disorders
Autism spectrum disorder (ASD) is a clinically and genetically heterogeneous group of pervasive neur
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White matter volume and myelin oligodendrocyte glycoprotein (MOG) microsatellites in pediatric obsessive-compulsive disorder
The myelin oligodendrocyte glycoprotein (MOG) gene plays an important role in myelination and has be
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Integrated multi-omics analysis identifies epigenetic alteration related to neurodegeneration development in post-traumatic stress disorder patients
Introduction Post-traumatic stress disorder (PTSD), is associated with an elevated risk of neurod
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Genome-wide by environment interaction studies of maternal smoking and educational score in UK biobank
Purpose This study aimed to investigate the associations between maternal smoking (MS) and educat
Psychiatric Genetics
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Genome-wide association studies-supported rs12966547 variant of the long noncoding RNA LOC105372125 is significantly associated with susceptibility to schizophrenia and bipolar disorder in Han Chinese women
Objective Genome-wide association studies have found that rs12966547 polymorphism was associated
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Differential effect of panic on the DNA methylation of the glucocorticoid receptor gene exon 1F in chronic subjective tinnitus with distress
Objective Tinnitus can be regarded as a chronic stressor, leading to dysregulation of the hypotha
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Evaluating the genetic interaction effects of gut microbiome and diet on the risk of neuroticism in the UK Biobank cohort
Objectives In this study designed to investigate the effect of diet and gut microbiome on neurops
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Gene and schizophrenia in the pregenome and postgenome-wide association studies era: a bibliometric analysis and network visualization
This study aimed to perform a bibliometric analysis on genetic studies in schizophrenia in the prege
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Emerging trends in gene and bipolar disorder research: a bibliometric analysis and network visualisation
This study aims to use a bibliometric technique to evaluate the scientific output of gene and bipola
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Psycho-cognitive assessment and quality of life in older adults with chronic obstructive pulmonary disease-carrying the rs4713916 gene polymorphism (G/A) of gene FKBP5 and response to pulmonary rehabilitation: a proof of concept study
Purpose Chronic obstructive pulmonary disease (COPD) is characterized by pulmonary and extra-pulm
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Pathoclinical associations between panic disorders and the brain-derived neurotrophic factor Val66Met polymorphism: an updated meta-analysis
Prior studies have indicated the pathological role of brain-derived neurotrophic factor (BDNF) gene
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Novel RPS6KA3 mutations cause Coffin-Lowry syndrome in two patients and concurrent compulsive eyebrow-pulling behavior in one of them
Coffin-Lowry syndrome (CLS) is a rare X-linked disorder that, usually affects males, presenting with
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