Human Molecular Genetics

Article	Citations
Human Molecular Genetics Review Issue 2022	80
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	68
TRIM25 activates Wnt/β-catenin signalling by destabilising MAT2A mRNA to drive thoracic aortic aneurysm development	56
Loss of TMCC2 activates endoplasm reticulum stress and causes auditory hair cell death	53
Correction to: G2019S LRRK2 enhances the neuronal transmission of tau in the mouse brain	49
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	49
Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy	48
Small molecule 1a reduces FMRpolyG-mediated toxicity in in vitro and in vivo models for FMR1 premutation	45
Dissection of a Down syndrome-associated trisomy to separate the gene dosage-dependent and -independent effects of an extra chromosome	44
Serum biomarkers are altered in UK Biobank participants with mosaic chromosomal alterations	44
The novel potent GSK3 inhibitor AF3581 reverts fragile X syndrome phenotype	44
A molecular map of long non-coding RNA expression, isoform switching and alternative splicing in osteoarthritis	41
A pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and loss of YY1 binding	38
Expression of Concern: Cowden syndrome-associated germline SDHD variants alter PTEN nuclear translocation through SRC-induced PTEN oxidation	37
Genomic features of renal cell carcinoma developed during end-stage renal disease and dialysis	37
Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders	35
Impaired cooperation between IFT74/BBS22–IFT81 and IFT25–IFT27/BBS19 causes Bardet-Biedl syndrome	35
Alzheimer’s disease risk gene CD2AP is a dose-sensitive determinant of synaptic structure and plasticity	35
AAV-mediated gene-replacement therapy restores viability of BCD patient iPSC derived RPE cells and vision of Cyp4v3 knockout mice	34
The microRNA processorDROSHAis a candidate gene for a severe progressive neurological disorder	31
Long term peripheral AAV9-SMN gene therapy promotes survival in a mouse model of spinal muscular atrophy	31
Origins of tissue and cell-type specificity in mitochondrial DNA (mtDNA) disease	30
Genetic and clinical determinants of abdominal aortic diameter: genome-wide association studies, exome array data and Mendelian randomization study	30
Deep structure of DNA for genomic analysis	29
Functional annotation and investigation of the 10q24.33 melanoma risk locus identifies a common variant that influences transcriptional regulation ofOBFC1	29

CRISPR-Cas9-driven antigen conversion of clinically relevant blood group systems	28
Prenatal inflammation as a link between placental expression signature of tryptophan metabolism and preterm birth	28
Genetic landscape of human mitochondrial genome using whole-genome sequencing	28
Prioritization and functional analysis of GWAS risk loci for Barrett’s esophagus and esophageal adenocarcinoma	28
Correction to: Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease	28
Genotype–phenotype correlation of T-cell subtypes reveals senescent and cytotoxic genes in Alzheimer’s disease	28
The role of CSNK1A1 and its de novo mutations in infantile spasms syndrome	28
Transcriptome-wide association study identifies multiple genes and pathways associated with thyroid function	28
Integrative multi-omics database (iMOMdb) of Asian pregnant women	28
A Caenorhabditis elegans model of autosomal dominant adult-onset neuronal ceroid lipofuscinosis identifies ethosuximide as a potential therapeutic	27
Brain multi-omic Mendelian randomisation to identify novel drug targets for gliomagenesis	27
Effective therapeutic strategies in a preclinical mouse model of Charcot–Marie–Tooth disease	27
GWAS of genetic factors affecting white blood cell morphological parameters in Sardinians uncovers influence of chromosome 11 innate immunity gene cluster on eosinophil morphology	26
The role of CNBP in brain atrophy and its targeting in myotonic dystrophy type 2	26
Association with HLA-DRβ1 position 37 distinguishes juvenile dermatomyositis from adult-onset myositis	26
Investigating MATN3 and ASPN as novel drivers of gastric cancer progression via EMT pathways	26
Lack of evidence for GWAS signals of exfoliation glaucoma working via monogenic loss-of-function mutation in the nearest gene	26
Correction to: Metformin induces lactate accumulation and accelerates renal cyst progression in Pkd1-deficient mice	26
Non-canonical initiation factors modulate repeat-associated non-AUG translation	25
Altered hydroxymethylome in the substantia nigra of Parkinson’s disease	25
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	25
COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis	25
Plasticity and structural alterations of mitochondria and sarcoplasmic organelles in muscles of mice deficient in α-dystrobrevin, a component of the dystrophin-glycoprotein complex	25
Rare protective variants and glaucoma-relevant cell stressors modulate Angiopoietin-like 7 expression	25
Integrator complex subunit 15 controls mRNA splicing and is critical for eye development	24
Temporal dissection of Rai1 function reveals brain-derived neurotrophic factor as a potential therapeutic target for Smith–Magenis syndrome	23
Comparison of pharmaceutical properties and biological activities of prednisolone, deflazacort, and vamorolone in DMD disease models	23
Continuous, but not intermittent, regimens of hypoxia prevent and reverse ataxia in a murine model of Friedreich’s ataxia	23
Modeling gain-of-function and loss-of-function components ofSPAST-based hereditary spastic paraplegia using transgenic mice	22
ETV4/NSUN2 Axis modulates aerobic glycolysis and malignancy in HSCC	22
Correction to: Analysis of CF patient survival confirms STAT3 as a CF-modifying gene with changing impact over time	22
Three decades of ASD genetics: building a foundation for neurobiological understanding and treatment	22
Histidine supplementation can escalate or rescue HARS deficiency in a Charcot–Marie–Tooth disease model	22
From data to discovery: AI-guided analysis of disease-relevant molecules in spinal muscular atrophy (SMA)	22
Correction to: Novel Drosophila model of myotonic dystrophy type 1: phenotypic characterization and genome-wide view of altered gene expression	21
Recent developments in population biobanks and the genetic architecture of complex disease	21
Multiplexed functional genomic assays to decipher the noncoding genome	21
Mouse models of type I interferonopathies	21
Seed sequence polymorphism rs2168518 and allele-specific target gene regulation of hsa-miR-4513	21
MiR-592 activates the mTOR kinase, ERK1/ERK2 kinase signaling and imparts neuronal differentiation signature characteristic of Group 4 medulloblastoma	21
COPI coatomer subunit α-COP interacts with the RNA binding protein Nucleolin via a C-terminal dilysine motif	20
Associations of carotid intima media thickness with gene expression in whole blood and genetically predicted gene expression across 48 tissues	20
Dynamics and variability of transcriptomic dysregulation in congenital myotonic dystrophy during pediatric development	20
Functional analysis of cell lines derived from SMAD3-related Loeys-Dietz syndrome patients provides insights into genotype-phenotype relation	20
Vcp overexpression and leucine supplementation extend lifespan and ameliorate neuromuscular junction phenotypes of a SOD1G93A-ALS mouse model	20
Correction to: m6A RNA methylation regulates mitochondrial function	19
Ambroxol reverses tau and α-synuclein accumulation in a cholinergic N370S GBA1 mutation model	19
Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility	19
Obesity-associated MRAP2 variants impair multiple MC4R-mediated signaling pathways	19
Breast cancer cell-derived exosome-delivered microRNA-155 targets UBQLN1 in adipocytes and facilitates cancer cachexia-related fat loss	19

Quantitative trait locus (xQTL) approaches identify risk genes and drug targets from human non-coding genomes	19
Differential impact of Kv8.2 loss on rod and cone signaling and degeneration	19
O-GlcNAc transferase Ogt regulates embryonic neuronal development through modulating Wnt/β-catenin signaling	19
Integration of transcriptome-wide association study with neuronal dysfunction assays provides functional genomics evidence for Parkinson’s disease genes	19
Excessive tubulin glutamylation leads to progressive cone-rod dystrophy and loss of outer segment integrity	19
Retracted: Protective effects of mitophagy enhancers against amyloid beta-induced mitochondrial and synaptic toxicities in Alzheimer disease	19
Abnormal activation of Yap/Taz contributes to the pathogenesis of tuberous sclerosis complex	18
Expanding the molecular spectrum of pathogenicSHOC2variants underlying Mazzanti syndrome	18
Cross-cancer pleiotropic analysis identifies three novel genetic risk loci for colorectal cancer	18
ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome	18
Mutant VPS35-D620N induces motor dysfunction and impairs DAT-mediated dopamine recycling pathway	18
Novel frameshift mutation in STK33 is associated with asthenozoospermia and multiple morphological abnormalities of the flagella	18
Variant spectrum of von Hippel–Lindau disease and its genomic heterogeneity in Japan	17
Human herpesvirus 8 ORF57 protein is able to reduce TDP-43 pathology: network analysis identifies interacting pathways	17
Expanded CAG/CTG repeats resist gene silencing mediated by targeted epigenome editing	17
Admixture mapping analysis reveals differential genetic ancestry associated with Chagas disease susceptibility in the Colombian population	17
Three linked variants have opposing regulatory effects on isovaleryl-CoA dehydrogenase gene expression	17
The evaluation of targeted exome sequencing of candidate genes in a Han Chinese population with primary open-angle glaucoma	17
Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing	17
High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect	17
In-frame deletion of SPECC1L microtubule association domain results in gain-of-function phenotypes affecting embryonic tissue movement and fusion events	17
Identifying BMI-associated genes via a genome-wide multi-omics integrative approach using summary data	17
IPIP27A cooperates with OCRL to support endocytic traffic in the zebrafish pronephric tubule	17
Cwc27, associated with retinal degeneration, functions as a splicing factorin vivo	16
Human and pathogen-encoded circular RNAs in viral infections: insights into functions and therapeutic opportunities	16
Intronic elements associated with insomnia and restless legs syndrome exhibit cell-type-specific epigenetic features contributing to MEIS1 regulation	16
Modeling bone marrow microenvironment and hematopoietic dysregulation in Gaucher disease through VavCre mediated Gba deletion	16
A neurodevelopmental disorder associated with an activatingde novomissense variant inARF1	16
Functional characterization of OXTR-associated enhancers	16
Caspar, an adapter for VAPB and TER94, modulates the progression of ALS8 by regulating IMD/NFκB-mediated glial inflammation in aDrosophilamodel of human disease	16
The maternal protein NLRP5 stabilizes UHRF1 in the cytoplasm: implication for the pathogenesis of multilocus imprinting disturbance	16
Identification of the GlialCAM interactome: the G protein-coupled receptors GPRC5B and GPR37L1 modulate megalencephalic leukoencephalopathy proteins	16
Novel correlative analysis identifies multiple genomic variations impacting ASD with macrocephaly	16
Calibrating a functional assay for variant classification in RYR1-related malignant hyperthermia susceptibility	15
Multi-ancestry genome-wide association study of gestational diabetes mellitus highlights genetic links with type 2 diabetes	15
Correction to: Dysbindin-1 is a synaptic and microtubular protein that binds brain snapin	15
A paradoxical genotype-phenotype relationship: Low level of GOSR2 translation from a non-AUG start codon in a family with profound hearing loss	15
NRSF regulates age-dependently cognitive ability and its conditional knockout in APP/PS1 mice moderately alters AD-like pathology	15
Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia	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
Myeloid cell-mediated targeting of LIF to dystrophic muscle causes transient increases in muscle fiber lesions by disrupting the recruitment and dispersion of macrophages in muscle	15
Illuminating mitochondrial translation through mouse models	15
CHARGE syndrome and related disorders: a mechanistic link	15
Dorsal telencephalon-specific Nprl2- and Nprl3-knockout mice: novel mouse models for GATORopathy	15
A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects	15
Escape from X-chromosome inactivation at KDM5C is driven by promoter-proximal DNA elements and enhanced by domain context	15
Genome-wide association study of urinary cadmium levels in current smokers from the multiethnic cohort study	15
Expression of Ripk1 and DAM genes correlates with severity and progression of Krabbe disease	15
Analysis for variable manifestations and molecular characteristics of pyridox(am)ine-5′-phosphate oxidase (PNPO) deficiency	15
Reciprocal and non-reciprocal effects of clinically relevant SETBP1 protein dosage changes	14
Transcriptional downregulation of FAM3C/ILEI in the Alzheimer’s brain	14
Dysregulated mitochondrial and cytosolic tRNA m1A methylation in Alzheimer’s disease	14
Germline de novo variant F747S extends the phenotypic spectrum ofCACNA1DCa2+ channelopathies	14
Retinoids rescue ceruloplasmin secretion and alleviate oxidative stress in Wilson’s disease-specific hepatocytes	14
Splicing analysis of 24 potential spliceogenic variants in MMR genes and clinical interpretation based on refined ACMG/AMP criteria	14
Kinetin mediated mutant huntingtin phosphorylation restores multiple dysregulated pathways in a cell line model of Huntington’s disease	14
Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish	14
Tissue- and cell-specific whole-transcriptome meta-analysis from brain and retina reveals differential expression of dystrophin complexes and new dystrophin spliced isoforms	14
Elucidating the impact of Y chromosome microdeletions and altered gene expression on male fertility in assisted reproduction	14
Lymphatic endothelial cell-specific NRAS p.Q61R mutant embryos show abnormal lymphatic vessel morphogenesis	14
Real-world evidence: Risdiplam in a patient with spinal muscular atrophy type I with a novel splicing mutation and one SMN2 copy	14
Genetic susceptibility to chronic diseases leads to heart failure among Europeans: the influence of leukocyte telomere length	14
Tracing genetic connections of ancient Hungarians to the 6th–14th century populations of the Volga-Ural region	14
SIRT1-driven mechanism: sevoflurane’s interference with mESC neural differentiation via PRRX1/DRD2 cascade	14
Longitudinal multimodal MRI characterization of a knock-in mouse model of Huntington’s disease reveals early gray and white matter alterations	13
Lung adenocarcinoma cell-derived exosomes promote M2 macrophage polarization through transmission of miR-3153 to activate the JNK signaling pathway	13
A novel recessive mutation in OXR1 is identified in patient with hearing loss recapitulated by the knockdown zebrafish	13
Pregnenolone-methyl-ether enhances CLIP170 and microtubule functions improving spine maturation and hippocampal deficits related to CDKL5 deficiency	13
Mitochondrial abnormalities contribute to muscle weakness in a Dnajb6 deficient zebrafish model	13
Human calmodulin mutations cause arrhythmia and affect neuronal function in C. elegans	13
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	13
Rare DCM associated variants in pre-miR-208a disrupt miRNA maturation and function	13
An integrated picture of chronic pancreatitis derived by mapping variants in multiple disease genes onto pathogenic pathways	13
Coordinated pyruvate kinase activity is crucial for metabolic adaptation and cell survival during mitochondrial dysfunction	13
Methylenetetrahydrofolate reductase deficiency and high-dose FA supplementation disrupt embryonic development of energy balance and metabolic homeostasis in zebrafish	13
Generation of a mouse model of the neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome	13
m6A RNA methylation regulates mitochondrial function	13
Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man	13
Tumor suppressor genes are reactivated by miR-26A1 via enhancer reprogramming in NSCLC	13
Use of adenine base editing and homology-independent targeted integration strategies to correct the cystic fibrosis causing variant, W1282X	13

Derivation of a minimal functional XIST by combining human and mouse interaction domains	13
Driving Global Health equity and precision medicine through African genomic data	13
Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects	13
Scalable approaches for functional analyses of whole-genome sequencing non-coding variants	13
Mitofusin 2 mutation drives cell proliferation in Charcot-Marie-Tooth 2A fibroblasts	13
Constructing methylation-driven ceRNA networks unveil tumor heterogeneity and predict patient prognosis	13
Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia	13
Distinct functional classes of PDGFRB pathogenic variants in primary familial brain calcification	13
Deoxynucleoside supplementation ameliorates the disease associated phenotypes in a zebrafish model of RRM2B mtDNA depletion syndrome	13
Metformin induces lactate accumulation and accelerates renal cyst progression in Pkd1-deficient mice	13
5-Aminolevulinic acid bypasses mitochondrial complex I deficiency and corrects physiological dysfunctions in Drosophila	13
Epigenome-wide methylation study identified two novel CpGs associated with T2DM risk and a network of co-methylated CpGs capable of patient’s classifications	13
A functional variant ofCD40modulates clearance of hepatitis B virus in hepatocytes via regulation of the ANXA2/CD40/BST2 axis	13
STING: a multifaced player in cellular homeostasis	12
Mutation burden analysis of six common mental disorders in African Americans by whole genome sequencing	12
UBE2S, downregulated by miR-152-3p, facilitates prostate cancer progression through the PTEN-mediated AKT/mTOR pathway	12
Molecular alterations due to Col5a1 haploinsufficiency in a mouse model of classic Ehlers–Danlos syndrome	12
Investigating DNA methylation as a mediator of genetic risk in childhood acute lymphoblastic leukemia	12
Construction of a prognostic model for lung adenocarcinoma based on m6A/m5C/m1A genes	12
New insights into tumor microenvironment and HPV integrations in cervical cancer pathogenesis revealed by single-cell transcriptome data	12
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	12
Novel pathological variants of NHP2 affect N-terminal domain flexibility, protein stability, H/ACA Ribonucleoprotein (RNP) complex formation and telomerase activity	12
Cell-trafficking impairment in disease-associated LPA6 missense mutants and a potential pharmacoperone therapy for autosomal recessive woolly hair/hypotrichosis	12
Genome-wide association study in the Taiwan Biobank identifies four novel genes for human height:NABP2, RASA2, RNF41andSLC39A5	12
Single-cell transcriptome unveils mesenchymal cell diversity in endometriosis	12
Genetic correction of TRMU allele restored the mitochondrial dysfunction-induced deficiencies in iPSCs-derived hair cells of hearing-impaired patients	12
Whole-exome sequencing and functional validation reveal a rare missense variant in MMP7 that confers ovarian endometriosis risk	12
Opposing effects of genetic variation in MTCH2 for obesity versus heart failure	12
High throughput functional profiling of genes at intraocular pressure loci reveals distinct networks for glaucoma	12
Colocalization analysis of 3′ UTR alternative polyadenylation quantitative trait loci reveals novel mechanisms underlying associations with lung function	12
TNFRSF10A downregulation induces retinal pigment epithelium degeneration during the pathogenesis of age-related macular degeneration and central serous chorioretinopathy	12
Identification of hub genes and biological pathways related to central post-stroke pain in ischemic stroke	12
Lis1 mutation prevents basal radial glia-like cell production in the mouse	12
ZNF224 is a mediator of TGF-β pro-oncogenic function in melanoma	12
Methylome-wide association study of early life stressors and adult mental health	12
Correction to: Pathomechanisms of Monoallelic variants in TTN causing skeletal muscle disease	12
Activating mitofusins interrupts mitochondrial degeneration and delays disease progression in SOD1 mutant amyotrophic lateral sclerosis	12
The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies	12
Temporal transcriptomic landscape of postnatal mouse ovaries reveals dynamic gene signatures associated with ovarian aging	12
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	12
Case–case genome-wide association analysis identifying genetic loci with divergent effects on Crohn’s disease and ulcerative colitis	12
Whole-exome sequencing identifies 5 novel genes associated with carpal tunnel syndrome	12
Lysyl oxidase-like 1-antisense 1 (LOXL1-AS1) lncRNA differentially regulates gene and protein expression, signaling and morphology of human ocular cells	12
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function	12
Socioeconomic changes predict genome-wide DNA methylation in childhood	11
Mitochondrial molecular genetics and human disease	11
Association of whole-person eigen-polygenic risk scores with Alzheimer’s disease	11
snRNA-seq analysis in multinucleated myogenic FSHD cells identifies heterogeneous FSHD transcriptome signatures associated with embryonic-like program activation and oxidative stress-induced apoptosis	11
CEBPB regulates the migration, invasion and EMT of breast cancer cells by inhibiting THBS2 expression and O-fucosylation	11
Correction to: Reduced dynamin-related protein 1 protects against phosphorylated Tau-induced mitochondrial dysfunction and synaptic damage in Alzheimer's disease	11
α-synuclein inhibits Snx3-retromer retrograde trafficking of the conserved membrane-bound proprotein convertase Kex2 in the secretory pathway of Saccharomyces cerevisiae	11
Disrupted phase behavior of FUS underlies poly-PR-induced DNA damage in amyotrophic lateral sclerosis	11
Compound heterozygous IFT81 variations in a skeletal ciliopathy patient cause Bardet–Biedl syndrome-like ciliary defects	11
Human DUX4 and porcine DUXC activate similar early embryonic programs in pig muscle cells: implications for preclinical models of FSHD	11
Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanisms	11
CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking	11
Erratum to: The Jun-dependent axon regeneration gene program: Jun promotes regeneration over plasticity	11
Common variants in SCN10A gene associated with Brugada syndrome	11
Hsa-miR223-3p circulating level is upregulated in Friedreich’s ataxia and inversely associated with HCLS1 associated protein X-1, HAX-1	11
Correction to: Protein QTL analysis of IGF-I and its binding proteins provides insights into growth biology	11
Trans-ancestry, Bayesian meta-analysis discovers 20 novel risk loci for inflammatory bowel disease in an African American, East Asian and European cohort	11
A genome-wide association study for rheumatoid arthritis replicates previous HLA and non-HLA associations in a cohort from South Africa	11
Three decades of genetic privacy: a metaphoric journey	11
FGF20andPGM2variants are associated with childhood asthma in family-based whole-genome sequencing studies	11
Distinct roles of the dystrophin–glycoprotein complex: α-dystrobrevin and α-syntrophin in the maintenance of the postsynaptic apparatus of the neuromuscular synapse	11
A novel framework for functional annotation of variants of uncertain significance in ID/ASD risk gene CC2D1A	11
Molecular basis of diseases induced by the mitochondrial DNA mutation m.9032T>C	11
Systemic proteome phenotypes reveal defective metabolic flexibility in Mecp2 mutants	11
Mate-pair sequencing assisted prenatal counseling for a rare complex chromosomal rearrangement carrier	11
Predicting prognosis and immunotherapy response in colorectal cancer by pericytes insights from single-cell RNA sequencing	11
Juvenile and adult expression of polyglutamine expanded huntingtin produce distinct aggregate distributions inDrosophilamuscle	11
Correction to: Ubiquitin specific protease-13 independently regulates parkin ubiquitination and alpha-synuclein clearance in alpha-synucleinopathies	11
Chromenone derivatives as novel pharmacological chaperones for retinitis pigmentosa-linked rod opsin mutants	11
Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders	10
RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder	10
Bridging the splicing gap in human genetics with long-read RNA sequencing: finding the protein isoform drivers of disease	10
Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disability	10
Translation of MT-ATP6 pathogenic variants reveals distinct regulatory consequences from the co-translational quality control of mitochondrial protein synthesis	10
Letter to the editor	10
Systematic identification of genomic elements that regulateFCGR2Aexpression and harbor variants linked with autoimmune disease	10
Influence of PRKCE non-synonymous variants on protein dynamics and functionality	10
Aggregates associated with amyotrophic lateral sclerosis sequester the actin-binding protein profilin 2	10
Novel compound heterozygous mutations in UHRF1 are associated with atypical immunodeficiency, centromeric instability and facial anomalies syndrome with distinctive genome-wide DNA hypomethylat	10
Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing species	10
GWAS in Africans identifies novel lipids loci and demonstrates heterogenous association within Africa	10
Convergent biological pathways underlying the Kallmann syndrome-linked genes Hs6st1 and Fgfr1	10
Excess membrane binding of monomeric alpha-, beta- and gamma-synuclein is invariably associated with inclusion formation and toxicity	10
The nuclear export signal mediates mutant atrophin-1-induced neuropathology in a mouse model of DRPLA	10
Carnosol, a diterpene present in rosemary, increases ELP1 levels in familial dysautonomia patient-derived cells and healthy adults: a possible therapy for FD	10
Integrating GWAS summary statistics, individual-level genotypic and omic data to enhance the performance for large-scale trait imputation	10
Functional analysis of germlineRAD51Cmissense variants highlight the role of RAD51C in replication fork protection	10
A genome-wide analysis of 340 318 participants identifies four novel loci associated with the age of first spectacle wear	10
Targeted HAI-2 deletion causes excessive proteolysis with prolonged active prostasin and depletion of HAI-1 monomer in intestinal but not epidermal epithelial cells	10
Correction to: Heterogeneity in the progression of retinal pathologies in mice harboring patient mimicking Impg2 mutations	10
Ablation of the dystrophin Dp71f alternative C-terminal variant increases sarcoma tumour cell aggressiveness	10