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Fridman, Khazeeva et al. show associations of reproductive phenotypes and educational attainment in heterozygotic carriers of pathogenic variants associated with recessive conditions.

Aberrant RNAs are recognized by the RNA helicase MTR4 and degraded by the RNA exosome complex. Here the authors show that the MTR4/hnRNPK complex destabilizes defective RNAs terminated in introns, termed 3XTs.

The mTOR pathway is a key regulator of normal brain development. Here, the authors identify de novo mutations in RHEB, an mTOR activator protein, in patients with intellectual disability associated with megalencephaly and find a role for RHEB in regulating neuronal soma size and migration in vitro and in vivo.

Joris Veltman, Han Brunner and colleagues report results of a family based exome sequencing study of ten individuals with unexplained mental retardation. They identified and validated de novo mutations in nine genes, six of which are likely to be pathogenic based on functional criteria, suggesting an important role for de novo point mutations in the etiology of unexplained mental retardation.

Han Brunner and colleagues report the identification of de novo nonsense mutations in ASXL1 in individuals with Bohring-Opitz syndrome, which is characterized by intellectual disability, distinctive facial features and multiple congenital malformations.

This flagship study from the European Solve-Rare Diseases Consortium presents a diagnostic framework including bioinformatic analysis of clinical, pedigree and genomic data coupled with expert panel review, leading to 500 new diagnoses in a cohort of 6,000 families with suspected rare diseases.

Single atom catalysts (SACs) suffer from the diffusion issues during catalytic process involving large molecules. Here the authors develop a topo-conversion strategy to prepare hollow mesoporous metal-nitrogen-carbon SACs which alleviates the choke point of poor mass transport of SACs.

Silicon electrodes promise high energy for lithium-ion batteries but face swelling and durability issues. Here, the authors develop a sieving-pore design that enables stable, fast-charging silicon electrodes with long cycle life, low expansion, and industrial-scale potential.

Claudia Langenberg, James Meigs and colleagues apply a joint meta-analysis approach that accounts for differences in body mass index to identify variants associated with glycemic traits. They report six new loci associated with fasting insulin levels and provide insights into the genetic basis of insulin resistance.

The production of organic esters forms a basis for relevant chemical and pharmaceutical industries, but its yield rate cannot exceed the equilibrium limit. Here the authors apply photothermal energy to catalyse an esterification reaction, achieving higher conversion efficiency.

Lignin is cheap and abundant, and potentially a major source of aromatic compounds. Here the authors show selective production of arenes via hydrodeoxygenation of lignin over Ru/Nb₂O₅, and mechanistically show the strong influence of the Nb₂O₅support on phenolic bond dissociation energies.

A study finds that RUVBL2 is a conserved component of eukaryotic circadian clocks and suggests that slow ATPase activity, which was initially discovered in cyanobacteria, is a shared feature of eukaryotic clocks.

This work demonstrates a novel preimplantation genetic testing (PGT) method that detects aberrations in both the nuclear and mitochondrial genomes of IVF embryos. The technology traces the origin of chromosomal aberrations to before or after fertilisation.

Chameleolyser enables the accurate identification of genetic variants hidden within complex regions of the genome. Its application uncovers the disease-explanatory variant in 25 previously undiagnosed patients.

Genome-wide analysis identifies variants associated with the volume of seven different subcortical brain regions defined by magnetic resonance imaging. Implicated genes are involved in neurodevelopmental and synaptic signaling pathways.

In a GWAS study of 32,438 adults, the authors discovered five novel loci for intracranial volume and confirmed two known signals. Variants for intracranial volume were also related to childhood and adult cognitive function and to Parkinson's disease, and enriched near genes involved in growth pathways, including PI3K-AKT signaling.

The most up-to-date combination of results on the properties of the Higgs boson is reported, which indicate that its properties are consistent with the standard model predictions, within the precision achieved to date.

De novo mutations in MSL3 cause an X-linked syndrome affecting both males and females. MSL3 mutations reduce H4K16ac levels and lead to misregulation of cellular pathways involved in morphogenesis, cellular shape, and cell migration.

The MAGIC investigators report results of a large genome-wide association study meta-analysis to identify common variants influencing fasting glucose homeostasis. They further show that several of the newly discovered loci influencing glycemic traits are also associated with risk of type 2 diabetes.

The CMS Collaboration reports evidence for off-shell Higgs boson contributions in the production of Z boson pairs, and measures the width of the Higgs boson, which is inversely related to its lifetime.

Previously documented record values of the fusion triple product in the stellarator Wendelstein 7-X are shown to be evidence for reduced neoclassical energy transport in this optimized device.

By integrating healthcare and exome-sequencing data from parent–offspring trios of patients with developmental disorders, 28 genes that had not previously been associated with developmental disorders were identified.

The CMS Collaboration reports the study of three simultaneous hard interactions between quarks and gluons in proton–proton collisions. This manifests through the concurrent production of three J/ψ mesons, which consist of a charm-quark–antiquark pair.

The hippocampus in mammalian brain varies in size across individuals. Here, Hibar and colleagues perform a genome-wide association meta-analysis to find six genetic loci with significant association to hippocampus volume.

Genomic analysis of products of conception collected after spontaneous pregnancy loss in the first trimester reveals previously undetected chromosomal aberrations and a higher degree of mosaic chromosomal imbalances.

Bernd Wollnik and colleagues report mutations in CEP152 cause Seckel syndrome, which is characterized by short stature, severe microcephaly and mental retardation. The work suggests that CEP152 has a function in genome maintenance.

Members of the CHD chromatin remodeler family are implicated in human pathologies, however CHD6 remained poorly studied. Here, the authors show that CHD6 binds to and regulates autophagy and stress response genes across cell types. They identify a clinical mutation that affects its ability to recruit cofactors, leading to impaired autophagy induction and DNA repair.

Bert DeVries and colleagues identify mutations in the chromatin regulator KANSL1 in 17q21.31 microdeletion syndrome. This syndrome is characterized by intellectual disability, hypotonia and distinctive facial features.

Joris Veltman and colleagues apply exome sequencing to identify heterozygous de novo mutations in SETBP1 as the cause of Schinzel-Giedion syndrome, a rare sporadic disorder characterized by severe intellectual disability and multiple congenital malformations.

AGO2 binds to miRNAs to repress expression of cognate target mRNAs. Here the authors report that heterozygous AGO2 mutations result in defects in neurological development and impair RNA interference.

Peter Robinson and colleagues performed exome sequencing on three siblings to identify mutations in PIGV in Hyperphosphatasia-Mental Retardation (HPMR) syndrome.

Cortex morphology varies with age, cognitive function, and in neurological and psychiatric diseases. Here the authors report 160 genome-wide significant associations with thickness, surface area and volume of the total cortex and 34 cortical regions from a GWAS meta-analysis in 22,824 adults.

Chromodomain Helicase DNA-binding (CHD) proteins have been implicated in neurodevelopmental processes. Here, the authors identify missense variants in CHD3 that disturb its chromatin remodeling activities and cause a neurodevelopmental disorder with macrocephaly and speech and language impairment.

Neurodevelopmental disorders (NDDs) are a heterogeneous group of diseases for which the genetic basis is still unknown in more than half of the cases. Here, the authors report a NDD associated with disruptive variants in the TANC2 gene and show that rols, the TANC2 homolog in flies, is required for synapse growth and function.

A new study reports an elevated frequency of second-site genomic alterations among children with severe developmental delay who carry a recurrent microdeletion at chromosome 16p12.1. The work highlights the complex relationship between genotype and phenotype and provides a model to explain the clinical variability associated with this and other common microdeletion syndromes.