Terkko Navigator / Human Molecular Genetics

EDITORIAL:‘An Improbable Fifteen Years as Executive Editor’

miR-142-3p regulates cortical oligodendrocyte gene co-expression networks associated with tauopathy

Photoreceptor cilia, in contrast to primary cilia, grant entry to a partially assembled BBSome

Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions

Epigenome-wide change and variation in DNA methylation in childhood: trajectories from birth to late adolescence

Assessing the relationship between monoallelic PRKN mutations and Parkinson’s risk

Novel variants and cellular studies on patients’ primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis

A plasma metabolomic signature of Leber hereditary optic neuropathy showing taurine and nicotinamide deficiencies

Downregulation of long non-protein coding RNA MVIH impairs glioblastoma cell proliferation and invasion through an miR-302a-dependent mechanism

Glutathione S-transferase Pi (Gstp) proteins regulate neuritogenesis in the developing cerebral cortex

On the shoulders of giants

Loss of FEZ1, a gene deleted in Jacobsen syndrome, causes locomotion defects and early mortality by impairing motor neuron development

Methylated and unmethylated epialleles support variegated epigenetic silencing in Friedreich ataxia

Brain cell type-specific endocytosis of arylsulfatase A identifies limitations of enzyme-based therapies for metachromatic leukodystrophy

Merlin cooperates with neurofibromin and Spred1 to suppress the Ras–Erk pathway

Heterozygous deletion of Sox9 in mouse mimics the gonadal sex reversal phenotype associated with campomelic dysplasia in humans

Autozygosity mapping and time-to-spontaneous delivery in Norwegian parent-offspring trios

Urinary metabolite quantitative trait loci in children and their interaction with dietary factors

A Neurexin2aa deficiency results in axon pathfinding defects and increased anxiety in zebrafish

TrkA mediates effect of novel KIDINS220 mutation in human brain ventriculomegaly

Interregulation between fragile X mental retardation protein and methyl CpG binding protein 2 in the mouse posterior cerebral cortex

Whole exome sequencing reveals pathogenic variants in MYO3A, MYO15A and COL9A3 and differential frequencies in ancestral alleles in hearing impairment genes among individuals from Cameroon

RPGR isoform imbalance causes ciliary defects due to exon ORF15 mutations in X-linked retinitis pigmentosa (XLRP)

NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss

Germline EGFR variants are over-represented in adolescents and young adults (AYA) with adrenocortical carcinoma

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice

Transient establishment of imprinted DNA methylation of transgenic human IC1 sequence in mouse during the preimplantation period

Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutations

Decreased turnover of the CNS myelin protein Opalin in a mouse model of hereditary spastic paraplegia 35

Genomic characterization of the adolescent idiopathic scoliosis-associated transcriptome and regulome

Mitochondria–lysosome membrane contacts are defective in GDAP1-related Charcot–Marie–Tooth disease

Genetic association and characterization of FSTL5 in isolated clubfoot

MSH2 knock-down shows CTG repeat stability and concomitant upstream demethylation at the DMPK locus in myotonic dystrophy type 1 human embryonic stem cells

Pulmonary glycogen deficiency as a new potential cause of respiratory distress syndrome

Neuroligin dependence of social behaviour in Caenorhabditis elegans provides a model to investigate an autism-associated gene

NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity

MN1 overexpression with varying tumor grade is a promising predictor of survival of glioma patients

The prevalent I686T human variant and loss-of-function mutations in the cardiomyocyte-specific kinase gene TNNI3K cause adverse contractility and concentric remodeling in mice

Intragenic complementation of amino and carboxy terminal SMN missense mutations can rescue Smn null mice

Conditional deletion of SMN in cell culture identifies functional SMN alleles

Germline variants are associated with increased primary melanoma tumor thickness at diagnosis

Low-pass whole genome bisulfite sequencing of neonatal dried blood spots identifies a role for RUNX1 in Down syndrome DNA methylation profiles

Corrigendum to: Genome-wide heritability analysis of severe malaria resistance reveals evidence of polygenic inheritance

Kisspeptin deficiency leads to abnormal adrenal glands and excess steroid hormone secretion

Nf2 fine-tunes proliferation and tissue alignment during closure of the optic fissure in the embryonic mouse eye

Unravelling the disease mechanism for TSPYL1 deficiency

SWI/SNF inactivation in the endometrial epithelium leads to loss of epithelial integrity

Variants in RABL2A causing male infertility and ciliopathy

De novo variants in MPP5 cause global developmental delay and behavioral changes

RNA-Seq profiling of leukocytes reveals a sex-dependent global circular RNA upregulation in multiple sclerosis and 6 candidate biomarkers