Common and rare variant analyses implicate late-infancy cerebellar development and immune genes in ADHD.

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 whole-genome significant risk loci in the European population. However, genetic risk factors for ADHD are less well-characterized in the Asian population, especially for low-frequency / rare variants.

Multi-ancestry genome-wide association meta-analysis identifies novel associations and informs genetic risk prediction for Hirschsprung disease.

Background: Hirschsprung disease (HSCR) is a rare, congenital disease characterized by the absence of enteric ganglia in the hindgut. Common genetic variation contributes substantially to the heritability of the disease yet only three HSCR-associated loci were identified from genome-wide association studies (GWAS) thus far.

Methods: We performed the largest multi-ancestry meta-analysis of GWAS to date, totalling 1250 HSCR cases and 7140 controls.

Tetramethylurea Based Intermediate Phase Engineering for Efficient and Stable Perovskite Solar Cells.

Perovskite solar cells (PSCs) are emerging photovoltaic devices renowned for their high efficiency and low cost. Efficient and stable PSCs depend on high-quality perovskite films, which are strongly influenced by the excellent nucleation and growth. The choice of solvent is critical for the crystallization behavior of perovskite films.

Whole-exome sequencing in a Chinese sample provides preliminary evidence for the link between rare/low-frequency immune-related variants and early-onset schizophrenia.

Rare and low-frequency variants contribute to schizophrenia (SCZ), and may influence its age-at-onset (AAO). We examined the association of rare or low-frequency deleterious coding variants in Chinese patients with SCZ. We collected DNA samples in 197 patients with SCZ spectrum disorder and 82 healthy controls (HC), and performed exome sequencing.

Attention-deficit/hyperactivity disorder and dopamine receptor D4 (DRD4) exon 3 variable number of tandem repeats (VNTR) 2-repeat allele.

To investigate the association of attention-deficit/hyperactivity disorder (ADHD) with the 48-base pair (bp) variable number of tandem repeats (VNTR) in exon 3 of the dopamine receptor D4 (DRD4) gene, we genotyped 240 ADHD patients and their parents from Hong Kong. The 4R allele was most common, followed by 2R. We examined association between the 2R allele (relative to 4R) and ADHD by Transmission Disequilibrium Test (TDT).

Early-onset schizophrenia is associated with immune-related rare variants in a Chinese sample.

Background: Rare variants are likely to contribute to schizophrenia (SCZ), given the large discrepancy between the heritability estimated from twin and GWAS studies. Furthermore, the nature of the rare-variant contribution to SCZ may vary with the "age-at-onset" (AAO), since early-onset has been suggested as being indicative of neurodevelopment deviance.

Objective: To examine the association of rare deleterious coding variants in early- and adult-onset SCZ in a Chinese sample.

Pathway-Specific Polygenic Scores Improve Cross-Ancestry Prediction of Psychosis and Clinical Outcomes.

Psychotic disorders are debilitating conditions with disproportionately high public health burden. Genetic studies indicate high heritability, but current polygenic scores (PGS) account for only a fraction of variance in psychosis risk. PGS often show poor portability across ancestries, performing significantly worse in non-European populations.

Ocular and neural genes jointly regulate the visuospatial working memory in ADHD children.

Objective: Working memory (WM) deficits have frequently been linked to attention deficit hyperactivity disorder (ADHD). Despite previous studies suggested its high heritability, its genetic basis, especially in ADHD, remains unclear. The current study aimed to comprehensively explore the genetic basis of visual-spatial working memory (VSWM) in ADHD using wide-ranging genetic analyses.

Genetics of Hirschsprung's disease.

Hirschsprung's disease (HSCR) is a classical model of enteric neuropathy, occurring in approximately 2-2.8 in 10,000 newborns. It is the commonest form of congenital bowel obstruction and is characterized by the absence of enteric ganglia in distal colon.

Multi-functional Strategy: Ammonium Citrate-Modified SnO ETL for Efficient and Stable Perovskite Solar Cells.

The tin oxide (SnO) electron transport layer (ETL) plays a crucial role in perovskite solar cells (PSCs). However, the heterogeneous dispersion of commercial SnO colloidal precursors is far from optimized, resulting in dissatisfied device performance with SnO ETL. Herein, a multifunctional modification material, ammonium citrate (TAC), is used to modify the SnO ETL, bringing four benefits: (1) due to the electrostatic interaction between TAC molecules and SnO colloidal particles, more uniformly dispersed colloidal particles are obtained; (2) the TAC molecules distributed on the surface of SnO provide nucleation sites for the perovskite film growth, promoting the vertical growth of the perovskite crystal; (3) TAC-doped SnO shows higher electron conductivity and better film quality than pristine SnO while offering better energy-level alignment with the perovskite layer; and (4) TAC has functional groups of C═O and N-H containing lone pair electrons, which can passivate the defects on the surface of SnO and perovskite films through chemical bonding and inhibit the device hysteresis.

and Working Memory: From Genome to Transcriptome Revealed Posttranscriptional Mechanism Separate From Attention-Deficit/Hyperactivity Disorder.

Background: Many psychiatric disorders share a working memory (WM) impairment phenotype, yet the genetic causes remain unclear. Here, we generated genetic profiles of WM deficits using attention-deficit/hyperactivity disorder samples and validated the results in zebrafish models.

Methods: We used 2 relatively large attention-deficit/hyperactivity disorder cohorts, 799 and 776 cases, respectively.

Functional abnormality in the sensorimotor system attributed to NRXN1 variants in boys with attention deficit hyperactivity disorder.

Impaired sensorimotor circuits have been suggested in Attention-deficit/hyperactivity disorder (ADHD). NRXN1, highly expressed in cortex and cerebellum, was one of the candidate risk genes for ADHD, while its effects on sensorimotor circuits are unclear. In this content, we aimed to investigate the differential brain effects as functions of the cumulative genetic effects of NRXN1 variants in ADHD and healthy controls (HCs), identifying a potential pathway mapping from NRXN1, sensorimotor circuits, to ADHD.

The Association with Quantitative Response to Attention-Deficit/Hyperactivity Disorder Medication of the Previously Identified Neurodevelopmental Network Genes.

A recent pharmacoimaging study suggested that methylphenidate (MPH) and atomoxetine (ATX) might have common mechanisms for the treatment of attention-deficit/hyperactivity disorder (ADHD). Previous pharmacogenetic studies have by and large only involved genes in neurotransmitter systems, which accounted for very small variances. Therefore, this study aimed to investigate whether the neurodevelopmental genes identified in a prior ADHD etiology Genome-Wide Association Study (GWAS) could predict patients' responses to MPH and ATX, given the aforementioned mechanisms of action.