Human Molecular Genetics

Article	Citations
Correction to: “Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using	86
Correction to: G2019S LRRK2 enhances the neuronal transmission of tau in the mouse brain	77
TRIM25 activates Wnt/β-catenin signalling by destabilising MAT2A mRNA to drive thoracic aortic aneurysm development	61
The rs6576457 G > A variant in the MKRN3 gene promoter significantly increases the risk of central precocious puberty and lung cancer in Hubei Chinese population	53
Origins of tissue and cell-type specificity in mitochondrial DNA (mtDNA) disease	51
AAV-mediated gene-replacement therapy restores viability of BCD patient iPSC derived RPE cells and vision of Cyp4v3 knockout mice	41
Expression of Concern: Cowden syndrome-associated germline SDHD variants alter PTEN nuclear translocation through SRC-induced PTEN oxidation	40
Dissection of a Down syndrome-associated trisomy to separate the gene dosage-dependent and -independent effects of an extra chromosome	39
Alzheimer’s disease risk gene CD2AP is a dose-sensitive determinant of synaptic structure and plasticity	39
Loss of TMCC2 activates endoplasm reticulum stress and causes auditory hair cell death	39
Long term peripheral AAV9-SMN gene therapy promotes survival in a mouse model of spinal muscular atrophy	39
Serum biomarkers are altered in UK Biobank participants with mosaic chromosomal alterations	37
Human Molecular Genetics Review Issue 2022	35
Genomic features of renal cell carcinoma developed during end-stage renal disease and dialysis	35
Genotype–phenotype correlation of T-cell subtypes reveals senescent and cytotoxic genes in Alzheimer’s disease	34
Macrophages: sentinels, warriors, and healers	34
Lack of evidence for GWAS signals of exfoliation glaucoma working via monogenic loss-of-function mutation in the nearest gene	33
The role of CSNK1A1 and its de novo mutations in infantile spasms syndrome	32
Correction to: Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease	32
Altered hydroxymethylome in the substantia nigra of Parkinson’s disease	31
Plasticity and structural alterations of mitochondria and sarcoplasmic organelles in muscles of mice deficient in α-dystrobrevin, a component of the dystrophin-glycoprotein complex	31
A microbiome quantitative trait locus in SLC39A8 modulates disease severity in synucleinopathy-induced models of Parkinson’s disease	29
Continuous, but not intermittent, regimens of hypoxia prevent and reverse ataxia in a murine model of Friedreich’s ataxia	28
GWAS of genetic factors affecting white blood cell morphological parameters in Sardinians uncovers influence of chromosome 11 innate immunity gene cluster on eosinophil morphology	28
A Caenorhabditis elegans model of autosomal dominant adult-onset neuronal ceroid lipofuscinosis identifies ethosuximide as a potential therapeutic	28

CRISPR-Cas9-driven antigen conversion of clinically relevant blood group systems	28
Complement factor B is critical for sub-RPE deposit accumulation in a model of Doyne honeycomb retinal dystrophy with features of age-related macular degeneration	28
Fostering diversity in global genomics: a South Asian perspective	28
Integrator complex subunit 15 controls mRNA splicing and is critical for eye development	27
Comparison of pharmaceutical properties and biological activities of prednisolone, deflazacort, and vamorolone in DMD disease models	27
Investigating MATN3 and ASPN as novel drivers of gastric cancer progression via EMT pathways	27
Functional characterisation of obesity-associated MRAP2 variants on MC4R and GHSR signalling	25
The role of CNBP in brain atrophy and its targeting in myotonic dystrophy type 2	25
Brain multi-omic Mendelian randomisation to identify novel drug targets for gliomagenesis	25
Rare protective variants and glaucoma-relevant cell stressors modulate Angiopoietin-like 7 expression	24
Histidine supplementation can escalate or rescue HARS deficiency in a Charcot–Marie–Tooth disease model	24
Correction to: Analysis of CF patient survival confirms STAT3 as a CF-modifying gene with changing impact over time	24
COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis	24
Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans	23
Breast cancer cell-derived exosome-delivered microRNA-155 targets UBQLN1 in adipocytes and facilitates cancer cachexia-related fat loss	23
Obesity-associated MRAP2 variants impair multiple MC4R-mediated signaling pathways	23
Dynamics and variability of transcriptomic dysregulation in congenital myotonic dystrophy during pediatric development	23
Correction to: Novel Drosophila model of myotonic dystrophy type 1: phenotypic characterization and genome-wide view of altered gene expression	23
COPI coatomer subunit α-COP interacts with the RNA binding protein Nucleolin via a C-terminal dilysine motif	23
Correction to: m6A RNA methylation regulates mitochondrial function	22
ETV4/NSUN2 Axis modulates aerobic glycolysis and malignancy in HSCC	22
Mouse models of type I interferonopathies	22
Vcp overexpression and leucine supplementation extend lifespan and ameliorate neuromuscular junction phenotypes of a SOD1G93A-ALS mouse model	21
Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1 -related malignant hyperthermia susceptibility	21
Functional analysis of cell lines derived from SMAD3-related Loeys-Dietz syndrome patients provides insights into genotype-phenotype relation	20
From data to discovery: AI-guided analysis of disease-relevant molecules in spinal muscular atrophy (SMA)	20
Multiplexed functional genomic assays to decipher the noncoding genome	20
Recent developments in population biobanks and the genetic architecture of complex disease	20
Integration of transcriptome-wide association study with neuronal dysfunction assays provides functional genomics evidence for Parkinson’s disease genes	20
Quantitative trait locus (xQTL) approaches identify risk genes and drug targets from human non-coding genomes	19
Human and pathogen-encoded circular RNAs in viral infections: insights into functions and therapeutic opportunities	19
Variant spectrum of von Hippel–Lindau disease and its genomic heterogeneity in Japan	19
Excessive tubulin glutamylation leads to progressive cone-rod dystrophy and loss of outer segment integrity	19
Long-read sequencing for NF1 gene analysis: enhancing diagnostic accuracy for Neurofibromatosis type 1	19
The evaluation of targeted exome sequencing of candidate genes in a Han Chinese population with primary open-angle glaucoma	19
ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome	19
Correction to: Critical role of the SPAK protein kinase CCT domain in controlling blood pressure	19
Three linked variants have opposing regulatory effects on isovaleryl-CoA dehydrogenase gene expression	19
Cross-cancer pleiotropic analysis identifies three novel genetic risk loci for colorectal cancer	18
Functional characterization of OXTR-associated enhancers	18
Human herpesvirus 8 ORF57 protein is able to reduce TDP-43 pathology: network analysis identifies interacting pathways	18
Modeling bone marrow microenvironment and hematopoietic dysregulation in Gaucher disease through VavCre mediated Gba deletion	18
Mutant VPS35-D620N induces motor dysfunction and impairs DAT-mediated dopamine recycling pathway	18
Clinical utility and genomic insights from whole exome and clinical exome sequencing in idiopathic liver disease	18
A neurodevelopmental disorder associated with an activatingde novomissense variant inARF1	18
Calibrating a functional assay for variant classification in RYR1 -related malignant hyperthermia susceptibility	17
Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing	17
Tracing neuropathological signatures: TARDBP and C9orf72 double mutations in a Sicilian family	17
Reciprocal and non-reciprocal effects of clinically relevant SETBP1 protein dosage changes	17
Genome-wide association study of urinary cadmium levels in current smokers from the multiethnic cohort study	17

Escape from X-chromosome inactivation at KDM5C is driven by promoter-proximal DNA elements and enhanced by domain context	17
Identifying BMI-associated genes via a genome-wide multi-omics integrative approach using summary data	17
Novel PNLDC1 mutations underlie nonobstructive azoospermia in humans and mice	17
The RNA-binding protein DDX39B promotes colorectal adenocarcinoma progression by stabilizing DCLK1	17
Correction to: Dysbindin-1 is a synaptic and microtubular protein that binds brain snapin	17
Novel correlative analysis identifies multiple genomic variations impacting ASD with macrocephaly	17
The maternal protein NLRP5 stabilizes UHRF1 in the cytoplasm: implication for the pathogenesis of multilocus imprinting disturbance	17
A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects	17
Genetic susceptibility to chronic diseases leads to heart failure among Europeans: the influence of leukocyte telomere length	17
Real-world evidence: Risdiplam in a patient with spinal muscular atrophy type I with a novel splicing mutation and one SMN2 copy	17
Analysis for variable manifestations and molecular characteristics of pyridox(am)ine-5′-phosphate oxidase (PNPO) deficiency	16
Splicing analysis of 24 potential spliceogenic variants in MMR genes and clinical interpretation based on refined ACMG/AMP criteria	16
A paradoxical genotype-phenotype relationship: Low level of GOSR2 translation from a non-AUG start codon in a family with profound hearing loss	16
Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish	16
NRSF regulates age-dependently cognitive ability and its conditional knockout in APP/PS1 mice moderately alters AD-like pathology	16
Lymphatic endothelial cell-specific NRAS p.Q61R mutant embryos show abnormal lymphatic vessel morphogenesis	16
Illuminating mitochondrial translation through mouse models	16
SIRT1-driven mechanism: sevoflurane’s interference with mESC neural differentiation via PRRX1/DRD2 cascade	15
De novo missense variants of KCNA3, KCNA4, and KCNA6 cause early onset developmental epileptic encephalopathy	15
A transcriptomics-based drug repositioning approach to identify drugs with similar activities for the treatment of muscle pathologies in spinal muscular atrophy (SMA) models	15
Methylenetetrahydrofolate reductase deficiency and high-dose FA supplementation disrupt embryonic development of energy balance and metabolic homeostasis in zebrafish	15
Scalable approaches for functional analyses of whole-genome sequencing non-coding variants	15
Epigenome-wide methylation study identified two novel CpGs associated with T2DM risk and a network of co-methylated CpGs capable of patient’s classifications	15
Kinetin mediated mutant huntingtin phosphorylation restores multiple dysregulated pathways in a cell line model of Huntington’s disease	15
Expression of Concern: Aqua-soluble DDQ reduces the levels of Drp1 and Aβ and inhibits abnormal interactions between Aβ and Drp1 and protects Alzheimer's disease neurons from Aβ- and Drp1-induced mito	15
Rats lacking emerin develop muscle pathologies and molecular alterations found in humans with X-linked EDMD	15
Human calmodulin mutations cause arrhythmia and affect neuronal function in C. elegans	15
Elucidating the impact of Y chromosome microdeletions and altered gene expression on male fertility in assisted reproduction	15
Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects	15
Tissue- and cell-specific whole-transcriptome meta-analysis from brain and retina reveals differential expression of dystrophin complexes and new dystrophin spliced isoforms	15
Tracing genetic connections of ancient Hungarians to the 6th–14th century populations of the Volga-Ural region	15
Mitochondrial abnormalities contribute to muscle weakness in a Dnajb6 deficient zebrafish model	15
Germline de novo variant F747S extends the phenotypic spectrum ofCACNA1DCa2+ channelopathies	15
Rare DCM associated variants in pre-miR-208a disrupt miRNA maturation and function	15
Correction to: Pathomechanisms of Monoallelic variants in TTN causing skeletal muscle disease	14
Case–case genome-wide association analysis identifying genetic loci with divergent effects on Crohn’s disease and ulcerative colitis	14
Mitofusin 2 mutation drives cell proliferation in Charcot-Marie-Tooth 2A fibroblasts	14
Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man	14
Tumor suppressor genes are reactivated by miR-26A1 via enhancer reprogramming in NSCLC	14
An integrated picture of chronic pancreatitis derived by mapping variants in multiple disease genes onto pathogenic pathways	14
STING: a multifaced player in cellular homeostasis	14
Single-cell transcriptome unveils mesenchymal cell diversity in endometriosis	14
m6A RNA methylation regulates mitochondrial function	14
Deoxynucleoside supplementation ameliorates the disease associated phenotypes in a zebrafish model of RRM2B mtDNA depletion syndrome	14
A functional variant ofCD40modulates clearance of hepatitis B virus in hepatocytes via regulation of the ANXA2/CD40/BST2 axis	14
Driving Global Health equity and precision medicine through African genomic data	14
Whole-exome sequencing identifies 5 novel genes associated with carpal tunnel syndrome	14
Mutation burden analysis of six common mental disorders in African Americans by whole genome sequencing	14
Use of adenine base editing and homology-independent targeted integration strategies to correct the cystic fibrosis causing variant, W1282X	14
Lung adenocarcinoma cell-derived exosomes promote M2 macrophage polarization through transmission of miR-3153 to activate the JNK signaling pathway	14
Derivation of a minimal functional XIST by combining human and mouse interaction domains	14
5-Aminolevulinic acid bypasses mitochondrial complex I deficiency and corrects physiological dysfunctions in Drosophila	14
Determining off-target effects of splice-switching antisense oligonucleotides using short read RNAseq in neuronally differentiated human induced pluripotent stem cells	14
Generation of a mouse model of the neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome	13
Opposing effects of genetic variation in MTCH2 for obesity versus heart failure	13
A novel recessive mutation in OXR1 is identified in patient with hearing loss recapitulated by the knockdown zebrafish	13
Constructing methylation-driven ceRNA networks unveil tumor heterogeneity and predict patient prognosis	13
Single cell analysis of pan-cancer tumor microenvironment in immunotherapy	13
Construction of a prognostic model for lung adenocarcinoma based on m6A/m5C/m1A genes	13
Identification of hub genes and biological pathways related to central post-stroke pain in ischemic stroke	13
Developmental genome-wide occupancy analysis of bZIP transcription factor NRL uncovers the role of c-Jun in early differentiation of rod photoreceptors in the mammalian retina	13
Colocalization analysis of 3′ UTR alternative polyadenylation quantitative trait loci reveals novel mechanisms underlying associations with lung function	13
Copy number variants and their implications for developmental and behavioural problems in cleft lip and/or palate	13
Novel pathological variants of NHP2 affect N-terminal domain flexibility, protein stability, H/ACA Ribonucleoprotein (RNP) complex formation and telomerase activity	13
FGF20andPGM2variants are associated with childhood asthma in family-based whole-genome sequencing studies	13
New insights into tumor microenvironment and HPV integrations in cervical cancer pathogenesis revealed by single-cell transcriptome data	13
High throughput functional profiling of genes at intraocular pressure loci reveals distinct networks for glaucoma	13
UBE2S, downregulated by miR-152-3p, facilitates prostate cancer progression through the PTEN-mediated AKT/mTOR pathway	13
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks	13
Mitochondrial molecular genetics and human disease	13
Molecular basis of diseases induced by the mitochondrial DNA mutation m.9032T>C	13
Activating mitofusins interrupts mitochondrial degeneration and delays disease progression in SOD1 mutant amyotrophic lateral sclerosis	13
snRNA-seq analysis in multinucleated myogenic FSHD cells identifies heterogeneous FSHD transcriptome signatures associated with embryonic-like program activation and oxidative stress-induced apoptosis	12
Compound heterozygous IFT81 variations in a skeletal ciliopathy patient cause Bardet–Biedl syndrome-like ciliary defects	12
A genome-wide association study for rheumatoid arthritis replicates previous HLA and non-HLA associations in a cohort from South Africa	12
Lysyl oxidase-like 1-antisense 1 (LOXL1-AS1) lncRNA differentially regulates gene and protein expression, signaling and morphology of human ocular cells	12
Restoration of dystrophin expression in mdx muscle cells by chimeraplast-mediated exon skipping	12
Correction to: Reduced dynamin-related protein 1 protects against phosphorylated Tau-induced mitochondrial dysfunction and synaptic damage in Alzheimer's disease	12
Juvenile and adult expression of polyglutamine expanded huntingtin produce distinct aggregate distributions in Drosophila muscle	12
Chromenone derivatives as novel pharmacological chaperones for retinitis pigmentosa-linked rod opsin mutants	12

Socioeconomic changes predict genome-wide DNA methylation in childhood	12
Correction to: Ubiquitin specific protease-13 independently regulates parkin ubiquitination and alpha-synuclein clearance in alpha-synucleinopathies	12
CEBPB regulates the migration, invasion and EMT of breast cancer cells by inhibiting THBS2 expression and O-fucosylation	12
Association of whole-person eigen-polygenic risk scores with Alzheimer’s disease	12
Systemic proteome phenotypes reveal defective metabolic flexibility in Mecp2 mutants	12
Cell-trafficking impairment in disease-associated LPA6 missense mutants and a potential pharmacoperone therapy for autosomal recessive woolly hair/hypotrichosis	12
A novel framework for functional annotation of variants of uncertain significance in ID/ASD risk gene CC2D1A	12
Investigating DNA methylation as a mediator of genetic risk in childhood acute lymphoblastic leukemia	12
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function	12
Mate-pair sequencing assisted prenatal counseling for a rare complex chromosomal rearrangement carrier	12
Human DUX4 and porcine DUXC activate similar early embryonic programs in pig muscle cells: implications for preclinical models of FSHD	12
Correction to: Protein QTL analysis of IGF-I and its binding proteins provides insights into growth biology	12
Trans-ancestry, Bayesian meta-analysis discovers 20 novel risk loci for inflammatory bowel disease in an African American, East Asian and European cohort	12
Disrupted phase behavior of FUS underlies poly-PR-induced DNA damage in amyotrophic lateral sclerosis	12
Bridging the splicing gap in human genetics with long-read RNA sequencing: finding the protein isoform drivers of disease	11
Ablation of the dystrophin Dp71f alternative C-terminal variant increases sarcoma tumour cell aggressiveness	11
The nuclear export signal mediates mutant atrophin-1-induced neuropathology in a mouse model of DRPLA	11
Integration of multiomic data identifies core-module of inherited-retinal diseases	11
Genomic structural equation Modeling analysis of glaucoma Endophenotypes: investigating genetic architecture and non-intraocular pressure mechanisms	11
TTC7A missense variants in intestinal disease can be classified by molecular and cellular phenotypes	11
Deregulated ion channels contribute to RHOBTB2-associated developmental and epileptic encephalopathy	11
Prdx5 regulates DNA damage response through autophagy-dependent Sirt2-p53 axis	11
Letter to the editor	11
Novel compound heterozygous mutations in UHRF1 are associated with atypical immunodeficiency, centromeric instability and facial anomalies syndrome with distinctive genome-wide DNA hypomethylat	11
Integrating GWAS summary statistics, individual-level genotypic and omic data to enhance the performance for large-scale trait imputation	11
Deficit of PKHD1L1 in the dentate gyrus increases seizure susceptibility in mice	11
Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders	11
Correction to: Expanded CAG/CTG repeats resist gene silencing mediated by targeted epigenome editing	11
RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder	11
Carnosol, a diterpene present in rosemary, increases ELP1 levels in familial dysautonomia patient-derived cells and healthy adults: a possible therapy for FD	11
Postnatal neuronalBace1deletion impairs neuroblast and oligodendrocyte maturation	11
A case report of SPONASTRIME dysplasia with novel TONSL mutation: genetic analysis, clinical manifestations, and the effect of growth hormone treatment	11
Correction to: Heterogeneity in the progression of retinal pathologies in mice harboring patient mimicking Impg2 mutations	11
Predicting prognosis and immunotherapy response in colorectal cancer by pericytes insights from single-cell RNA sequencing	11
Exome risk score for predicting susceptibility to and severity of isolated thoracic aortic aneurysm	11
A novel de novo FEM1C variant is linked to neurodevelopmental disorder with absent speech, pyramidal signs and limb ataxia	11
Functional analysis of germlineRAD51Cmissense variants highlight the role of RAD51C in replication fork protection	11
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria	11
Correction to: The C-terminal extension of dyskerin is a dyskeratosis congenita mutational hotspot that modulates interaction with telomerase RNA and subcellular localization	11
Impact of somatic XIST deletions on ongoing XIST expression and inactive X silencing and heterochromatin	11
A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells	11
Aggregates associated with amyotrophic lateral sclerosis sequester the actin-binding protein profilin 2	11
Genetic heterogeneity and homogeneity among orofacial cleft subtypes: genome-wide association studies in the cleft collective	10
Inference of putative cell-type-specific imprinted regulatory elements and genes during human neuronal differentiation	10
Diverse landscape of genomic research within the Estonian Biobank	10
Old vs. new local ancestry inference in HCHS/SOL: a comparative study	10
Neurodevelopmental disorder-associated CYFIP2 regulates membraneless organelles and eIF2α phosphorylation via protein interactors and actin cytoskeleton	10
An altered extracellular matrix–integrin interface contributes to Huntington’s disease-associated CNS dysfunction in glial and vascular cells	10
Novel compound heterozygous variants in NBAS underlying fever-dependent infantile liver failure syndrome type 2: potential implications of protein thermostability	10
Impact of the inaccessible genome on genotype imputation and genome-wide association studies	10
Clonal hematopoiesis and risk of prostate cancer in large samples of European ancestry men	10
Convergent biological pathways underlying the Kallmann syndrome-linked genes Hs6st1 and Fgfr1	10
Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disability	10
Lynch syndrome-associated and sporadic microsatellite unstable colorectal cancers: different patterns of clonal evolution yield highly similar tumours	10
Metabolic rerouting of valine and isoleucine oxidation increases survival in zebrafish models of disorders of propionyl-CoA metabolism	10
Functional characterization of archaic-specific variants in mitonuclear genes: insights from comparative analysis in S. cerevisiae	10
Loss of paired immunoglobin-like type 2 receptor B gene associated with age-related macular degeneration impairs photoreceptor function in mouse retina	10
The long Filamin-A isoform is required for intestinal development and motility: implications for chronic intestinal pseudo-obstruction	10
Correction to: Potentiation of neuromuscular transmission by a small molecule calcium channel gating modifier improves motor function in a severe spinal muscular atrophy mouse model	10
Compromised lipid metabolism, mitochondria respiration and neuroprotective effects in iPSC-derived astrocytes from a Smith-Lemli-Opitz syndrome patient	10
UNRAVELING CLN7 disease: the distinct roles of two close MFSD8/CLN7 splice variants in phenotypic expression	10
Leber’s hereditary optic neuropathy-associated ND6 14484T > C mutation caused pleiotropic effects on the complex I, RNA homeostasis, apoptosis and mitophagy	10
Circulating triglycerides are associated with human adipose tissue DNA methylation of genes linked to metabolic disease	10
miRNA analysis reveals novel dysregulated pathways in amyotrophic lateral sclerosis	10
Common single-base insertions in the VNTR of the carboxyl ester lipase (CEL) gene are benign and also likely to arise somatically in the exocrine pancreas	10
Small striatal huntingtin inclusions in patients with motor neuron disease with reduced penetrance and intermediate HTT gene expansions	10
Functional analysis of rare genetic variants in complement factor I in advanced age-related macular degeneration	10
Fibrillin-1 deficiency in the outer perichondrium causes longitudinal bone overgrowth in mice with Marfan syndrome	10