Neuroscience & Neurodevelopment

Issue 429

Psychometric validation of the education and assessment of genetic literacy or the EAGL measure

Issue 412

Assessing the foundations of forensic identification evidence: A critical examination of proficiency test design and results

Issue 408

Tau protein as a regulator of mitochondrial function and dynamics

Issue 401

De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms

Issue 399

Genome-wide analysis implicates inner ear development in Ménière disease

Issue 392

Genome-wide association study of cocaine self-administration behavior in Heterogeneous Stock rats

Issue 381

Spatially tuneable multiomic sequencing using light-driven combinatorial barcoding of molecules in tissues

Issue 379

Long-read genome sequencing improves detection and functional interpretation of structural and repeat variants in autism

Issue 375

Biallelic loss-of-function variants in DSCAM cause a neurodevelopmental syndrome with nystagmus and retinal dysfunction

Issue 372

Longitudinal associations between cognitive ability and socioeconomic status are partially genetic in nature

Issue 371

Single-nucleus epigenomic dysregulation unmasks genetic risk-associated neurodegenerative glia states

Issue 368

PARP1 deficiency mitigates amyloid pathology, neurodegeneration, and cognitive decline in a familial Alzheimer’s disease model

Issue 361

Chiral inversion mutagenesis identifies geometrically constrained residues within self - associating low - complexity domains

Issue 358

Biallelic variants in CHCHD4 are associated with combined OXPHOS defect leading to mitochondrial disease

Issue 350

Rhesus macaques with an OPA1 mutation demonstrate features of autosomal dominant optic atrophy

Issue 349

Structural basis of transcription -coupled RNA damage by incorporation of oxidized ribonucleotides

Issue 340

Alternative microexon splicing code for a four - amino acid peptide of PTPRD governs behavioral development

Issue 337

Neurodevelopmental copy-number variants increase risk of internalizing and cardiometabolic multimorbidity: Findings from the UK Biobank

Issue 331

Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency

Issue 327

Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder

Issue 323

Meat Consumption and Cognitive Health by APOE Genotype

Issue 306

Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, cause a late-onset retinal dystrophy

Issue 300

Population-scale sequencing resolves determinants of persistent EBV DNA

Issue 299

Encephalopathy-linked UFM1 variants impede neuronal protein translation, development, and function

Issue 298

Bi-allelic variants in FSD1L cause retinitis pigmentosa with or without neurological involvement

Issue 297

Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome

Issue 283

Interaction of identity and beliefs with genetic literacy

Issue 282

A gene-specific variance-control approach corrects polygenicity-driven inflation observed in transcriptome-wide association studies

Issue 281

Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies

Issue 277

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy

Issue 275

Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes

Issue 272

The activity and expression of adenylosuccinate lyase were reduced during modern human evolution, affecting brain and behavior

Issue 271

Genetic associations with education have increased and are patterned by socioeconomic context: Evidence from 3 studies born 1946–1970

Issue 259

Oligomerisation of Ku from Mycobacterium tuberculosis promotes DNA synapsis

Issue 257

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Issue 246

Structural pharmacology of SV2A reveals an allosteric modulation mechanism in the major facilitator superfamily

Issue 240

CYFIP1 governs the development of cortical axons by modulating calcium availability

Issue 230

A de novo missense variant in MIDEAS results in increased deacetylase activity of the MiDAC HDAC complex causing a neurodevelopmental syndrome

Issue 229

Pharmacologic inhibition of PCBP2 biomolecular condensates relieves Alzheimer’s disease

Issue 219

Multi-omic analysis reveals lipid dysregulation associated with mitochondrial dysfunction in Parkinson’s disease brain

Issue 213

BRAIN-MAGNET: A functional genomics atlas for interpretation of non-coding variants

Issue 210

Tumour-reactive heterotypic CD8 T cell clusters from clinical samples

Issue 198

Mechanical confinement governs phenotypic plasticity in melanoma

Issue 195

Issue 189

Issue 188

Issue 182

Issue 155

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B

Issue 138

Social exposome and brain health outcomes of dementia across Latin America

Issue 128

LINE-1 retrotransposons mediate cis-acting transcriptional control in human pluripotent stem cells and regulate early brain development

Issue 126

Molecular and developmental deficits in Smith-Magenis syndrome human stem cell-derived cortical neural models

Issue 125

Tackling a disease on a global scale, the Global Parkinson’s Genetics Program, GP2: A new generation of opportunities

Issue 123

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders

Issue 120

Rare variants in BMAL1 are associated with a neurodevelopmental syndrome

Issue 115

A transcriptomic, proteomic, and functional genetic atlas dissects neurofibromin function in the peripheral nervous system

Issue 106

Transcriptomic decoding of surface-based imaging phenotypes and its application to pharmacotranscriptomics

Issue 096

Issue 094

Intraindividual epigenetic heterogeneity underlying phenotypic subtypes of advanced prostate cancer

Issue 093

Highly pathogenic avian influenza H5N1 clade 2.3.4.4b genotype B3.13 is highly virulent for mice, rapidly causing acute pulmonary and neurologic disease

Issue 090

Variable and interactive effects of Sex, APOE ε4 and TREM2 on the deposition of tau in entorhinal and neocortical regions

Issue 089

Genome-wide association meta-analysis of human olfactory identification discovers sex-specific and sex-differential genetic variants

Issue 087

Circulating cell-free DNA methylation patterns indicate cellular sources of allograftinjury after liver transplant

Issue 083

Single-cell analysis of dup15q syndrome reveals developmental and postnatal molecular changes in autism

Issue 078

Interactions between TTYH2 and APOE facilitate endosomal lipid transfer

Issue 073

Assessing family history and approaches for identifying dementia patients with diagnostically significant genetic findings

Issue 072

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine and neuromuscular ciliopathy

Issue 071

ELFN1 Deficiency: the mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy

Issue 066

Mainstreaming of clinical genetic testing: A conceptual framework

Issue 057

Medicaid claims from 2008 to 2016 indicate low rates of genetic testing among children with intellectualdisability and autism spectrum disorder

Issue 056

The immunoproteasome disturbs neuronal metabolism and drives neurodegeneration in multiple sclerosis

Issue 048

Mainstreaming of clinical genetic testing: A conceptual framework

Issue 040

SLC7A11 is an unconventional H+ transporter in lysosomes

Issue 018

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation

Issue 015

The genetic changes that shaped Neandertals, Denisovans, and modern humans

Issue 006

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder