Terkko Navigator / Human Molecular Genetics

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

Charcot–Marie–tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMTX6 C. elegans model

Transcriptional downregulation of FAM3C/ILEI in the Alzheimer’s brain

A conserved ATG2 binding site in WIPI4 and yeast Hsv2 is disrupted by mutations causingβ-propeller protein-associated neurodegeneration

Abnormal migration behavior linked to Rac1 signaling contributes to primordial germ cell exhaustion in Fanconi anemia pathway-deficient Fancg−/− embryos

False positive findings during genome-wide association studies with imputation: influence of allele frequency and imputation accuracy

SMN protein is required throughout life to prevent spinal muscular atrophy disease progression

O-GlcNAc transferase Ogt regulates embryonic neuronal development through modulating Wnt/β-catenin signaling

De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality

CRISPR gene editing in pluripotent stem cells reveals the function of MBNL proteins during human in vitro myogenesis

ANNORE: genetic fine-mapping with functional annotation

In-frame deletion of SPECC1L microtubule association domain results in gain-of-function phenotypes affecting embryonic tissue movement and fusion events

Functional assessment of two variants of unknown significance in TEK by endothelium-specific expression in zebrafish embryos

Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2

Happy 30th Birthday, HMG

X-factors in human disease: impact of gene content and dosage regulation

Linking genome variants to disease: scalable approaches to test the functional impact of human mutations

From APC to the genetics of hereditary and familial colon cancer syndromes

The Y chromosome and its impact on health and disease

Three decades of ASD genetics: building a foundation for neurobiological understanding and treatment

Expanding studies of chromosome structure and function in the era of T2T genomics

Discovery of genomic variation across a generation

The International Human Genome Project

Human Molecular Genetics and the long road to treating cystic fibrosis

Has translational genomics come of age in Africa?

Huntington’s disease: nearly four decades of human molecular genetics

Mitochondrial DNA disorders: from pathogenic variants to preventing transmission

Three decades of genetic privacy: a metaphoric journey

Germline predisposition to hematopoietic malignancies

Advances in mouse genetics for the study of human disease

Brain-specific heterozygous loss-of-function of ATP2A2, endoplasmic reticulum Ca2+ pump responsible for Darier’s disease, causes behavioral abnormalities and a hyper-dopaminergic state

High-altitude pulmonary edema is aggravated by risk loci and associated transcription factors in HIF-prolyl hydroxylases

Novel LRRK2 mutations and other rare, non-BAP1-related candidate tumor predisposition gene variants in high-risk cancer families with mesothelioma and other tumors

Downregulation of ARID1B, a tumor suppressor in the WNT subgroup medulloblastoma, activates multiple oncogenic signaling pathways

Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy

High-fat diet–induced activation of SGK1 promotes Alzheimer’s disease–associated tau pathology

Genome-wide gene–diet interaction analysis in the UK Biobank identifies novel effects on hemoglobin A1c

Fragile X premutation rCGG repeats impair synaptic growth and synaptic transmission at Drosophila larval neuromuscular junction

Identification of the GlialCAM interactome: the G protein-coupled receptors GPRC5B and GPR37L1 modulate megalencephalic leukoencephalopathy proteins

Small molecule 1a reduces FMRpolyG-mediated toxicity in in vitro and in vivo models for FMR1 premutation

BORCS6 is involved in the enlargement of lung lamellar bodies in Lrrk2 knockout mice

PAK1 inhibition reduces tumor size and extends the lifespan of mice in a genetically engineered mouse model of Neurofibromatosis Type 2 (NF2)

Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders

Increasing LRP4 diminishes neuromuscular deficits in a mouse model of Duchenne muscular dystrophy

A cross-tissue transcriptome-wide association study identifies novel susceptibility genes for lung cancer in Chinese populations

RNA kinase CLP1/Cbc regulates meiosis initiation in spermatogenesis

Erratum to: Discoidin Domain Receptor 1 is a therapeutic target for neurodegenerative diseases

Integrative genomics analysis reveals a 21q22.11 locus contributing risk to COVID-19

ALS/FTD mutations in UBQLN2 are linked to mitochondrial dysfunction through loss-of-function in mitochondrial protein import

A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect