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	84
Correction to: G2019S LRRK2 enhances the neuronal transmission of tau in the mouse brain	58
Loss of TMCC2 activates endoplasm reticulum stress and causes auditory hair cell death	56
Expression of Concern: Cowden syndrome-associated germline SDHD variants alter PTEN nuclear translocation through SRC-induced PTEN oxidation	45
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	44
Genomic features of renal cell carcinoma developed during end-stage renal disease and dialysis	42
Human Molecular Genetics Review Issue 2022	41
AAV-mediated gene-replacement therapy restores viability of BCD patient iPSC derived RPE cells and vision of Cyp4v3 knockout mice	40
Alzheimer’s disease risk gene CD2AP is a dose-sensitive determinant of synaptic structure and plasticity	40
Origins of tissue and cell-type specificity in mitochondrial DNA (mtDNA) disease	38
Integrated multi-platform genetic profiling reveals dual molecular pathology in 46, XY disorders of sex development through NR5A1 Haploinsufficiency and	37
TRIM25 activates Wnt/β-catenin signalling by destabilising MAT2A mRNA to drive thoracic aortic aneurysm development	37
The abnormal C-terminus caused by DVL1 variants impacts Robinow syndrome phenotypes	36
Dissection of a Down syndrome-associated trisomy to separate the gene dosage-dependent and -independent effects of an extra chromosome	35
Long term peripheral AAV9-SMN gene therapy promotes survival in a mouse model of spinal muscular atrophy	35
Serum biomarkers are altered in UK Biobank participants with mosaic chromosomal alterations	35
Correction to: Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease	32
Macrophages: sentinels, warriors, and healers	32
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
GWAS of genetic factors affecting white blood cell morphological parameters in Sardinians uncovers influence of chromosome 11 innate immunity gene cluster on eosinophil morphology	31
Lack of evidence for GWAS signals of exfoliation glaucoma working via monogenic loss-of-function mutation in the nearest gene	30
Fostering diversity in global genomics: a South Asian perspective	30
CRISPR-Cas9-driven antigen conversion of clinically relevant blood group systems	30
A microbiome quantitative trait locus in SLC39A8 modulates disease severity in synucleinopathy-induced models of Parkinson’s disease	28
Functional characterisation of obesity-associated MRAP2 variants on MC4R and GHSR signalling	28

A Caenorhabditis elegans model of autosomal dominant adult-onset neuronal ceroid lipofuscinosis identifies ethosuximide as a potential therapeutic	28
Identification of multi-omic pleiotropy factors for peripheral artery disease	27
The role of CNBP in brain atrophy and its targeting in myotonic dystrophy type 2	27
The role of CSNK1A1 and its de novo mutations in infantile spasms syndrome	26
Investigating MATN3 and ASPN as novel drivers of gastric cancer progression via EMT pathways	24
Brain multi-omic Mendelian randomisation to identify novel drug targets for gliomagenesis	23
Integrator complex subunit 15 controls mRNA splicing and is critical for eye development	23
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	23
Rare protective variants and glaucoma-relevant cell stressors modulate Angiopoietin-like 7 expression	23
Histidine supplementation can escalate or rescue HARS deficiency in a Charcot–Marie–Tooth disease model	23
COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis	22
Correction to: Analysis of CF patient survival confirms STAT3 as a CF-modifying gene with changing impact over time	22
Continuous, but not intermittent, regimens of hypoxia prevent and reverse ataxia in a murine model of Friedreich’s ataxia	22
Comparison of pharmaceutical properties and biological activities of prednisolone, deflazacort, and vamorolone in DMD disease models	22
Correction to: Novel Drosophila model of myotonic dystrophy type 1: phenotypic characterization and genome-wide view of altered gene expression	21
Excessive tubulin glutamylation leads to progressive cone-rod dystrophy and loss of outer segment integrity	21
From data to discovery: AI-guided analysis of disease-relevant molecules in spinal muscular atrophy (SMA)	21
ETV4/NSUN2 Axis modulates aerobic glycolysis and malignancy in HSCC	21
A functional framework in patient fibroblasts informs ATP7A variant pathogenicity and identifies p.Q990P as a novel cause of distal motor neuropathy	21
Correction to: m6A RNA methylation regulates mitochondrial function	21
Multiplexed functional genomic assays to decipher the noncoding genome	21
Dynamics and variability of transcriptomic dysregulation in congenital myotonic dystrophy during pediatric development	21
RETRACTED: Breast cancer cell-derived exosome-delivered microRNA-155 targets UBQLN1 in adipocytes and facilitates cancer cachexia-related fat loss	20
COPI coatomer subunit α-COP interacts with the RNA binding protein Nucleolin via a C-terminal dilysine motif	20
Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans	20
Functional analysis of cell lines derived from SMAD3-related Loeys-Dietz syndrome patients provides insights into genotype-phenotype relation	20
Recent developments in population biobanks and the genetic architecture of complex disease	20
Mouse models of type I interferonopathies	20
tubb5 knockout in zebrafish causes neurodevelopmental defects via notch pathways	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	20
Correction to: Critical role of the SPAK protein kinase CCT domain in controlling blood pressure	19
ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome	19
The evaluation of targeted exome sequencing of candidate genes in a Han Chinese population with primary open-angle glaucoma	19
Vcp overexpression and leucine supplementation extend lifespan and ameliorate neuromuscular junction phenotypes of a SOD1G93A-ALS mouse model	19
Three linked variants have opposing regulatory effects on isovaleryl-CoA dehydrogenase gene expression	19
Obesity-associated MRAP2 variants impair multiple MC4R-mediated signaling pathways	19
Functional characterization of OXTR-associated enhancers	18
Novel correlative analysis identifies multiple genomic variations impacting ASD with macrocephaly	18
The maternal protein NLRP5 stabilizes UHRF1 in the cytoplasm: implication for the pathogenesis of multilocus imprinting disturbance	18
Calibrating a functional assay for variant classification in RYR1 -related malignant hyperthermia susceptibility	18
Human herpesvirus 8 ORF57 protein is able to reduce TDP-43 pathology: network analysis identifies interacting pathways	18
Long-read sequencing for NF1 gene analysis: enhancing diagnostic accuracy for Neurofibromatosis type 1	18
Clinical utility and genomic insights from whole exome and clinical exome sequencing in idiopathic liver disease	18
Identifying BMI-associated genes via a genome-wide multi-omics integrative approach using summary data	17
Variant spectrum of von Hippel–Lindau disease and its genomic heterogeneity in Japan	17
Human and pathogen-encoded circular RNAs in viral infections: insights into functions and therapeutic opportunities	17
Cross-cancer pleiotropic analysis identifies three novel genetic risk loci for colorectal cancer	17
A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects	17
Escape from X-chromosome inactivation at KDM5C is driven by promoter-proximal DNA elements and enhanced by domain context	17

DDX3X syndrome mutations lock DDX3X-RNA conformational states to drive persistent pathological condensation and neuronal death	17
Tracing neuropathological signatures: TARDBP and C9orf72 double mutations in a Sicilian family	17
A neurodevelopmental disorder associated with an activatingde novomissense variant inARF1	17
Modeling bone marrow microenvironment and hematopoietic dysregulation in Gaucher disease through VavCre mediated Gba deletion	17
The RNA-binding protein DDX39B promotes colorectal adenocarcinoma progression by stabilizing DCLK1	16
Lymphatic endothelial cell-specific NRAS p.Q61R mutant embryos show abnormal lymphatic vessel morphogenesis	16
Correction to: Dysbindin-1 is a synaptic and microtubular protein that binds brain snapin	16
Illuminating mitochondrial translation through mouse models	16
Splicing analysis of 24 potential spliceogenic variants in MMR genes and clinical interpretation based on refined ACMG/AMP criteria	16
Disease-specific biomarkers of pathogenic HRAS variants in human immortalized keratinocytes	16
Genetic susceptibility to chronic diseases leads to heart failure among Europeans: the influence of leukocyte telomere length	16
NRSF regulates age-dependently cognitive ability and its conditional knockout in APP/PS1 mice moderately alters AD-like pathology	16
Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish	16
Reciprocal and non-reciprocal effects of clinically relevant SETBP1 protein dosage changes	16
Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing	16
Real-world evidence: Risdiplam in a patient with spinal muscular atrophy type I with a novel splicing mutation and one SMN2 copy	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
Rats lacking emerin develop muscle pathologies and molecular alterations found in humans with X-linked EDMD	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
A functional variant ofCD40modulates clearance of hepatitis B virus in hepatocytes via regulation of the ANXA2/CD40/BST2 axis	15
Deoxynucleoside supplementation ameliorates the disease associated phenotypes in a zebrafish model of RRM2B mtDNA depletion syndrome	15
Retraction: Breast cancer cell-derived exosome-delivered microRNA-155 targets UBQLN1 in adipocytes and facilitates cancer cachexia-related fat loss	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
Novel PNLDC1 mutations underlie nonobstructive azoospermia in humans and mice	15
Mitochondrial abnormalities contribute to muscle weakness in a Dnajb6 deficient zebrafish model	15
An integrated picture of chronic pancreatitis derived by mapping variants in multiple disease genes onto pathogenic pathways	15
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
Analysis for variable manifestations and molecular characteristics of pyridox(am)ine-5′-phosphate oxidase (PNPO) deficiency	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
Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man	15
Scalable approaches for functional analyses of whole-genome sequencing non-coding variants	15
Kinetin mediated mutant huntingtin phosphorylation restores multiple dysregulated pathways in a cell line model of Huntington’s disease	15
Genome-wide association study of urinary cadmium levels in current smokers from the multiethnic cohort study	15
Ultra-rare variants in LAMA2 are risk factors for frontotemporal dementia and motor neuron disease	14
Tumor suppressor genes are reactivated by miR-26A1 via enhancer reprogramming in NSCLC	14
Human calmodulin mutations cause arrhythmia and affect neuronal function in C. elegans	14
5-Aminolevulinic acid bypasses mitochondrial complex I deficiency and corrects physiological dysfunctions in Drosophila	14
Elucidating the impact of Y chromosome microdeletions and altered gene expression on male fertility in assisted reproduction	14
Lung adenocarcinoma cell-derived exosomes promote M2 macrophage polarization through transmission of miR-3153 to activate the JNK signaling pathway	14
Epigenome-wide methylation study identified two novel CpGs associated with T2DM risk and a network of co-methylated CpGs capable of patient’s classifications	14
Methylenetetrahydrofolate reductase deficiency and high-dose FA supplementation disrupt embryonic development of energy balance and metabolic homeostasis in zebrafish	14
Rare DCM associated variants in pre-miR-208a disrupt miRNA maturation and function	14
Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects	14
Germline de novo variant F747S extends the phenotypic spectrum ofCACNA1DCa2+ channelopathies	14
Derivation of a minimal functional XIST by combining human and mouse interaction domains	13
Correction to: Pathomechanisms of Monoallelic variants in TTN causing skeletal muscle disease	13
Novel pathological variants of NHP2 affect N-terminal domain flexibility, protein stability, H/ACA Ribonucleoprotein (RNP) complex formation and telomerase activity	13
STING: a multifaced player in cellular homeostasis	13
MIRAGE: a multimodal deep learning framework for interpretable risk assessment of high myopia from genetic and retinal imaging data	13
Case–case genome-wide association analysis identifying genetic loci with divergent effects on Crohn’s disease and ulcerative colitis	13
Determining off-target effects of splice-switching antisense oligonucleotides using short read RNAseq in neuronally differentiated human induced pluripotent stem cells	13
Mitofusin 2 mutation drives cell proliferation in Charcot-Marie-Tooth 2A fibroblasts	13
m6A RNA methylation regulates mitochondrial function	13
Activating mitofusins interrupts mitochondrial degeneration and delays disease progression in SOD1 mutant amyotrophic lateral sclerosis	13
Single-cell transcriptome unveils mesenchymal cell diversity in endometriosis	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
Constructing methylation-driven ceRNA networks unveil tumor heterogeneity and predict patient prognosis	13
High throughput functional profiling of genes at intraocular pressure loci reveals distinct networks for glaucoma	13
Driving Global Health equity and precision medicine through African genomic data	13
New insights into tumor microenvironment and HPV integrations in cervical cancer pathogenesis revealed by single-cell transcriptome data	13
Colocalization analysis of 3′ UTR alternative polyadenylation quantitative trait loci reveals novel mechanisms underlying associations with lung function	13
UBE2S, downregulated by miR-152-3p, facilitates prostate cancer progression through the PTEN-mediated AKT/mTOR pathway	13
Copy number variants and their implications for developmental and behavioural problems in cleft lip and/or palate	13
Finding and computational analyses of a novel mutation in CEP78 linked to cone-rod dystrophy and hearing loss	13
Construction of a prognostic model for lung adenocarcinoma based on m6A/m5C/m1A genes	13
A novel recessive mutation in OXR1 is identified in patient with hearing loss recapitulated by the knockdown zebrafish	13
Whole-exome sequencing identifies 5 novel genes associated with carpal tunnel syndrome	13
Use of adenine base editing and homology-independent targeted integration strategies to correct the cystic fibrosis causing variant, W1282X	13
Single cell analysis of pan-cancer tumor microenvironment in immunotherapy	12
Identification of hub genes and biological pathways related to central post-stroke pain in ischemic stroke	12
Juvenile and adult expression of polyglutamine expanded huntingtin produce distinct aggregate distributions in Drosophila muscle	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
FGF20andPGM2variants are associated with childhood asthma in family-based whole-genome sequencing studies	12
Restoration of dystrophin expression in mdx muscle cells by chimeraplast-mediated exon skipping	12
Cell-trafficking impairment in disease-associated LPA6 missense mutants and a potential pharmacoperone therapy for autosomal recessive woolly hair/hypotrichosis	12
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
Mate-pair sequencing assisted prenatal counseling for a rare complex chromosomal rearrangement carrier	12
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function	12

Correction to: Ubiquitin specific protease-13 independently regulates parkin ubiquitination and alpha-synuclein clearance in alpha-synucleinopathies	12
Compound heterozygous IFT81 variations in a skeletal ciliopathy patient cause Bardet–Biedl syndrome-like ciliary defects	12
Association of whole-person eigen-polygenic risk scores with Alzheimer’s disease	12
Lysyl oxidase-like 1-antisense 1 (LOXL1-AS1) lncRNA differentially regulates gene and protein expression, signaling and morphology of human ocular cells	12
A novel framework for functional annotation of variants of uncertain significance in ID/ASD risk gene CC2D1A	12
Mitochondrial molecular genetics and human disease	12
Molecular basis of diseases induced by the mitochondrial DNA mutation m.9032T>C	12
Systemic proteome phenotypes reveal defective metabolic flexibility in Mecp2 mutants	12
A genome-wide association study for rheumatoid arthritis replicates previous HLA and non-HLA associations in a cohort from South Africa	12
Human DUX4 and porcine DUXC activate similar early embryonic programs in pig muscle cells: implications for preclinical models of FSHD	12
CEBPB regulates the migration, invasion and EMT of breast cancer cells by inhibiting THBS2 expression and O-fucosylation	12
Impact of somatic XIST deletions on ongoing XIST expression and inactive X silencing and heterochromatin	11
Genomic structural equation Modeling analysis of glaucoma Endophenotypes: investigating genetic architecture and non-intraocular pressure mechanisms	11
Correction to: Reduced dynamin-related protein 1 protects against phosphorylated Tau-induced mitochondrial dysfunction and synaptic damage in Alzheimer's disease	11
Integrating GWAS summary statistics, individual-level genotypic and omic data to enhance the performance for large-scale trait imputation	11
Postnatal neuronalBace1deletion impairs neuroblast and oligodendrocyte maturation	11
Natural history of NGLY1 deficiency: motor function & clinical features	11
A case report of SPONASTRIME dysplasia with novel TONSL mutation: genetic analysis, clinical manifestations, and the effect of growth hormone treatment	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
Aggregates associated with amyotrophic lateral sclerosis sequester the actin-binding protein profilin 2	11
Prdx5 regulates DNA damage response through autophagy-dependent Sirt2-p53 axis	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
Deficit of PKHD1L1 in the dentate gyrus increases seizure susceptibility in mice	11
The nuclear export signal mediates mutant atrophin-1-induced neuropathology in a mouse model of DRPLA	11
Ablation of the dystrophin Dp71f alternative C-terminal variant increases sarcoma tumour cell aggressiveness	11
Predicting prognosis and immunotherapy response in colorectal cancer by pericytes insights from single-cell RNA sequencing	11
Functional analysis of germlineRAD51Cmissense variants highlight the role of RAD51C in replication fork protection	11
Integration of multiomic data identifies core-module of inherited-retinal diseases	11
Correction to: Expanded CAG/CTG repeats resist gene silencing mediated by targeted epigenome editing	11
A novel de novo FEM1C variant is linked to neurodevelopmental disorder with absent speech, pyramidal signs and limb ataxia	11
Deregulated ion channels contribute to RHOBTB2-associated developmental and epileptic encephalopathy	11
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria	11
TTC7A missense variants in intestinal disease can be classified by molecular and cellular phenotypes	11
Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disability	10
Correction to: Heterogeneity in the progression of retinal pathologies in mice harboring patient mimicking Impg2 mutations	10
Inference of putative cell-type-specific imprinted regulatory elements and genes during human neuronal differentiation	10
Circulating triglycerides are associated with human adipose tissue DNA methylation of genes linked to metabolic disease	10
Genetic heterogeneity and homogeneity among orofacial cleft subtypes: genome-wide association studies in the cleft collective	10
Limited penetrance of dominantly inherited AIRE variants in a population-based cohort	10
Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders	10
Old vs. new local ancestry inference in HCHS/SOL: a comparative study	10
miRNA analysis reveals novel dysregulated pathways in amyotrophic lateral sclerosis	10
The long Filamin-A isoform is required for intestinal development and motility: implications for chronic intestinal pseudo-obstruction	10
Clonal hematopoiesis and risk of prostate cancer in large samples of European ancestry men	10
Metabolic rerouting of valine and isoleucine oxidation increases survival in zebrafish models of disorders of propionyl-CoA metabolism	10
Neurodevelopmental disorder-associated CYFIP2 regulates membraneless organelles and eIF2α phosphorylation via protein interactors and actin cytoskeleton	10
Letter to the editor	10
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	10
Diverse landscape of genomic research within the Estonian Biobank	10
UNRAVELING CLN7 disease: the distinct roles of two close MFSD8/CLN7 splice variants in phenotypic expression	10
Compromised lipid metabolism, mitochondria respiration and neuroprotective effects in iPSC-derived astrocytes from a Smith-Lemli-Opitz syndrome patient	10
Lynch syndrome-associated and sporadic microsatellite unstable colorectal cancers: different patterns of clonal evolution yield highly similar tumours	10
Bridging the splicing gap in human genetics with long-read RNA sequencing: finding the protein isoform drivers of disease	10
Small striatal huntingtin inclusions in patients with motor neuron disease with reduced penetrance and intermediate HTT gene expansions	9
An altered extracellular matrix–integrin interface contributes to Huntington’s disease-associated CNS dysfunction in glial and vascular cells	9
Combined periodontitis GWAS identifies LINC01541 as a regulator of innate immunity in the oral mucosa	9
Editor’s Note: Protective effects of antidepressant citalopram against abnormal APP processing and amyloid beta-induced mitochondrial dynamics, biogenesis, mitophagy and synaptic toxicities in Alzheim	9
Hippocampal and peripheral blood DNA methylation signatures correlate at the gene and pathway level in a mouse model of autism	9
Functional characterization of archaic-specific variants in mitonuclear genes: insights from comparative analysis in S. cerevisiae	9
Loss of paired immunoglobin-like type 2 receptor B gene associated with age-related macular degeneration impairs photoreceptor function in mouse retina	9
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	9
Alternative splicing of Scn9a exon 5: mechanistic insights and therapeutic potential in pain disorders	9
Impact of the inaccessible genome on genotype imputation and genome-wide association studies	9
A mutation inATP11Acauses autosomal-dominant auditory neuropathy type 2	9
Charis Eng, MD, PhD, 1962-2024, In Memoriam	9
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	9
Circulating MYOM3 fragments reflect disease severity and therapeutic efficacy in tubular aggregate myopathy and Stormorken syndrome	9
The causal association between sleep traits and osteoarthritis traits: evidence from bidirectional mendelian randomization	9
Novel compound heterozygous variants in NBAS underlying fever-dependent infantile liver failure syndrome type 2: potential implications of protein thermostability	9
Genetic analysis implicates ERAP1 and HLA as risk factors for severe Puumala virus infection	9
Retraction of: Protective effects of mitophagy enhancers against amyloid beta-induced mitochondrial and synaptic toxicities in Alzheimer disease	9
Toward a deeper understanding of child mental health: commentary on ‘gene copy number variation and pediatric mental health/neurodevelopment in a general population’	8
Nuclear envelope protein lamin B receptor protects the genome from chromosomal instability and tumorigenesis	8
BMP4-GPX4 can improve the ferroptosis phenotype of retinal ganglion cells and enhance their differentiation ability after retinal stem cell transplantation in glaucoma with high intraocular pressure	8
Identifying X-chromosome variants associated with age-related macular degeneration	8
A novel splicing variant in TECTA associated with prelingual autosomal dominant nonsyndromic hearing loss via dominant-negative effect	8
Correction to: C1orf194 deficiency leads to incomplete early embryonic lethality and dominant intermediate Charcot—Marie—Tooth disease in a knockout mouse model	8
Stem cell models of TAFAZZIN deficiency reveal novel tissue-specific pathologies in Barth syndrome	8
Toward a better understanding of PHTS heterogeneity: commentary on ‘Cell-type specific deficits in PTEN-mutant cortical organoids converge on abnormal circuit activity’	8
Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis	8
Genome sequencing reveals CCDC88A variants in malformations of cortical development and immune dysfunction	8
Leveraging academic medical biobanks for recall-by-genotype deep phenotyping studies	8
Identification of potential causal metabolites associated with atopic dermatitis	8
Abnormal morphology and function in retinal ganglion cells derived from patients-specific iPSCs generated from individuals with Leber’s hereditary optic neuropathy	8
Catalog of 73 novel variants in thalassemia: discoveries and insights	8
Correction to: ATP13A2/PARK9 regulates endo-/lysosomal cargo sorting and proteostasis through a novel PI(3, 5)P2-mediated scaffolding function	8
TFIIB-related factor 1 is a nucleolar protein that promotes RNA polymerase I-directed transcription and tumour cell growth	8
Ovol2 promoter mutations in mice and human illuminate species-specific phenotypic divergence	8
Molecular mechanism underlying impaired hepatic autophagy in glycogen storage disease type Ib	8
Dysregulation of the chromatin environment leads to differential alternative splicing as a mechanism of disease in a human model of autism spectrum disorder	8
Reduced synaptic depression in human neurons carrying homozygous disease-causing STXBP1 variant L446F	8
Correction to: Ceramide contributes to pathogenesis and may be targeted for therapy in VCP inclusion body myopathy	8
Gallbladder cancer-associated genetic variants rs1003349 and rs1004030 regulate MMP14 expression by altering SOX10- and MYB-binding sites	8
Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused byIFT74mutations	8
Co-methylation analyses identify CpGs associated with lipid traits in Chinese discordant monozygotic twins	8