Human Molecular Genetics

Papers
(The TQCC of Human Molecular Genetics is 9. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2021-05-01 to 2025-05-01.)
ArticleCitations
Human Molecular Genetics Review Issue 202279
A molecular map of long non-coding RNA expression, isoform switching and alternative splicing in osteoarthritis66
Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders55
The rs6576457 G > A variant in the MKRN3 gene promoter significantly increases the risk of central precocious puberty and lung cancer in Hubei Chinese population52
Functional annotation and investigation of the 10q24.33 melanoma risk locus identifies a common variant that influences transcriptional regulation ofOBFC148
A pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and loss of YY1 binding48
Long term peripheral AAV9-SMN gene therapy promotes survival in a mouse model of spinal muscular atrophy46
Alzheimer’s disease risk gene CD2AP is a dose-sensitive determinant of synaptic structure and plasticity44
TRIM25 activates Wnt/β-catenin signalling by destabilising MAT2A mRNA to drive thoracic aortic aneurysm development44
Loss of TMCC2 activates endoplasm reticulum stress and causes auditory hair cell death43
The microRNA processorDROSHAis a candidate gene for a severe progressive neurological disorder42
Correction to: G2019S LRRK2 enhances the neuronal transmission of tau in the mouse brain41
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 38
Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy37
Origins of tissue and cell-type specificity in mitochondrial DNA (mtDNA) disease36
Expression of Concern: Cowden syndrome-associated germline SDHD variants alter PTEN nuclear translocation through SRC-induced PTEN oxidation36
Dissection of a Down syndrome-associated trisomy to separate the gene dosage-dependent and -independent effects of an extra chromosome34
Small molecule 1a reduces FMRpolyG-mediated toxicity in in vitro and in vivo models for FMR1 premutation34
Comprehensive phenotypic and functional analysis of dominant and recessiveFOXE3alleles in ocular developmental disorders34
Serum biomarkers are altered in UK Biobank participants with mosaic chromosomal alterations33
The novel potent GSK3 inhibitor AF3581 reverts fragile X syndrome phenotype29
Genetic and clinical determinants of abdominal aortic diameter: genome-wide association studies, exome array data and Mendelian randomization study29
AAV-mediated gene-replacement therapy restores viability of BCD patient iPSC derived RPE cells and vision of Cyp4v3 knockout mice29
Impaired cooperation between IFT74/BBS22–IFT81 and IFT25–IFT27/BBS19 causes Bardet-Biedl syndrome29
Genomic features of renal cell carcinoma developed during end-stage renal disease and dialysis29
Non-canonical initiation factors modulate repeat-associated non-AUG translation28
NovelLRRK2mutations and other rare, non-BAP1-related candidate tumor predisposition gene variants in high-risk cancer families with mesothelioma and other tumors28
Deep structure of DNA for genomic analysis28
Temporal dissection of Rai1 function reveals brain-derived neurotrophic factor as a potential therapeutic target for Smith–Magenis syndrome28
Integrator complex subunit 15 controls mRNA splicing and is critical for eye development27
Continuous, but not intermittent, regimens of hypoxia prevent and reverse ataxia in a murine model of Friedreich’s ataxia27
CRISPR-Cas9-driven antigen conversion of clinically relevant blood group systems26
The number of the CTCF binding sites of the H19/IGF2:IG-DMR correlates with DNA methylation and expression imprinting in a humanized mouse model26
Genetic landscape of human mitochondrial genome using whole-genome sequencing26
Comparison of pharmaceutical properties and biological activities of prednisolone, deflazacort, and vamorolone in DMD disease models26
Genotype–phenotype correlation of T-cell subtypes reveals senescent and cytotoxic genes in Alzheimer’s disease26
Correction to: Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease26
Transcriptome-wide association study identifies multiple genes and pathways associated with thyroid function26
Integrative multi-omics database (iMOMdb) of Asian pregnant women26
Effective therapeutic strategies in a preclinical mouse model of Charcot–Marie–Tooth disease25
Prenatal inflammation as a link between placental expression signature of tryptophan metabolism and preterm birth25
The role of CNBP in brain atrophy and its targeting in myotonic dystrophy type 224
A Caenorhabditis elegans model of autosomal dominant adult-onset neuronal ceroid lipofuscinosis identifies ethosuximide as a potential therapeutic24
Association with HLA-DRβ1 position 37 distinguishes juvenile dermatomyositis from adult-onset myositis24
Brain multi-omic Mendelian randomisation to identify novel drug targets for gliomagenesis24
Plasticity and structural alterations of mitochondria and sarcoplasmic organelles in muscles of mice deficient in α-dystrobrevin, a component of the dystrophin-glycoprotein complex23
COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis23
Rare protective variants and glaucoma-relevant cell stressors modulate Angiopoietin-like 7 expression23
The role of CSNK1A1 and its de novo mutations in infantile spasms syndrome23
Altered hydroxymethylome in the substantia nigra of Parkinson’s disease23
Lack of evidence for GWAS signals of exfoliation glaucoma working via monogenic loss-of-function mutation in the nearest gene23
GWAS of genetic factors affecting white blood cell morphological parameters in Sardinians uncovers influence of chromosome 11 innate immunity gene cluster on eosinophil morphology23
Investigating MATN3 and ASPN as novel drivers of gastric cancer progression via EMT pathways22
Histidine supplementation can escalate or rescue HARS deficiency in a Charcot–Marie–Tooth disease model22
Complement factor B is critical for sub-RPE deposit accumulation in a model of Doyne honeycomb retinal dystrophy with features of age-related macular degeneration22
Correction to: Metformin induces lactate accumulation and accelerates renal cyst progression in Pkd1-deficient mice22
MiR-592 activates the mTOR kinase, ERK1/ERK2 kinase signaling and imparts neuronal differentiation signature characteristic of Group 4 medulloblastoma21
Expanding the molecular spectrum of pathogenicSHOC2variants underlying Mazzanti syndrome21
Correction to: Analysis of CF patient survival confirms STAT3 as a CF-modifying gene with changing impact over time21
Modeling gain-of-function and loss-of-function components ofSPAST-based hereditary spastic paraplegia using transgenic mice21
Prioritization and functional analysis of GWAS risk loci for Barrett’s esophagus and esophageal adenocarcinoma21
Recent developments in population biobanks and the genetic architecture of complex disease20
ETV4/NSUN2 Axis modulates aerobic glycolysis and malignancy in HSCC20
O-GlcNAc transferase Ogt regulates embryonic neuronal development through modulating Wnt/β-catenin signaling20
Differential impact of Kv8.2 loss on rod and cone signaling and degeneration20
Retracted: Protective effects of mitophagy enhancers against amyloid beta-induced mitochondrial and synaptic toxicities in Alzheimer disease20
Mouse models of type I interferonopathies20
ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome20
From data to discovery: AI-guided analysis of disease-relevant molecules in spinal muscular atrophy (SMA)20
Three decades of ASD genetics: building a foundation for neurobiological understanding and treatment20
Functional analysis of cell lines derived from SMAD3-related Loeys-Dietz syndrome patients provides insights into genotype-phenotype relation19
Quantitative trait locus (xQTL) approaches identify risk genes and drug targets from human non-coding genomes19
Dynamics and variability of transcriptomic dysregulation in congenital myotonic dystrophy during pediatric development19
Seed sequence polymorphism rs2168518 and allele-specific target gene regulation of hsa-miR-451319
Multiplexed functional genomic assays to decipher the noncoding genome19
Correction to: Novel Drosophila model of myotonic dystrophy type 1: phenotypic characterization and genome-wide view of altered gene expression19
Integration of transcriptome-wide association study with neuronal dysfunction assays provides functional genomics evidence for Parkinson’s disease genes18
Ambroxol reverses tau and α-synuclein accumulation in a cholinergic N370S GBA1 mutation model18
Vcp overexpression and leucine supplementation extend lifespan and ameliorate neuromuscular junction phenotypes of a SOD1G93A-ALS mouse model18
Novel frameshift mutation in STK33 is associated with asthenozoospermia and multiple morphological abnormalities of the flagella18
Correction to: m6A RNA methylation regulates mitochondrial function18
COPI coatomer subunit α-COP interacts with the RNA binding protein Nucleolin via a C-terminal dilysine motif18
Excessive tubulin glutamylation leads to progressive cone-rod dystrophy and loss of outer segment integrity18
Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility18
Breast cancer cell-derived exosome-delivered microRNA-155 targets UBQLN1 in adipocytes and facilitates cancer cachexia-related fat loss18
Obesity-associated MRAP2 variants impair multiple MC4R-mediated signaling pathways18
Associations of carotid intima media thickness with gene expression in whole blood and genetically predicted gene expression across 48 tissues18
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss17
Mutant VPS35-D620N induces motor dysfunction and impairs DAT-mediated dopamine recycling pathway17
Human herpesvirus 8 ORF57 protein is able to reduce TDP-43 pathology: network analysis identifies interacting pathways17
Cross-cancer pleiotropic analysis identifies three novel genetic risk loci for colorectal cancer17
Caspar, an adapter for VAPB and TER94, modulates the progression of ALS8 by regulating IMD/NFκB-mediated glial inflammation in aDrosophilamodel of human disease17
Three linked variants have opposing regulatory effects on isovaleryl-CoA dehydrogenase gene expression17
Comparison of adaptive multiple phenotype association tests using summary statistics in genome-wide association studies17
Abnormal activation of Yap/Taz contributes to the pathogenesis of tuberous sclerosis complex17
Identifying BMI-associated genes via a genome-wide multi-omics integrative approach using summary data17
Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing17
Novel correlative analysis identifies multiple genomic variations impacting ASD with macrocephaly17
Functional characterization of OXTR-associated enhancers16
Variant spectrum of von Hippel–Lindau disease and its genomic heterogeneity in Japan16
Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia16
IPIP27A cooperates with OCRL to support endocytic traffic in the zebrafish pronephric tubule16
The evaluation of targeted exome sequencing of candidate genes in a Han Chinese population with primary open-angle glaucoma16
High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect16
Expanded CAG/CTG repeats resist gene silencing mediated by targeted epigenome editing16
A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects16
Identification of the GlialCAM interactome: the G protein-coupled receptors GPRC5B and GPR37L1 modulate megalencephalic leukoencephalopathy proteins16
Modeling bone marrow microenvironment and hematopoietic dysregulation in Gaucher disease through VavCre mediated Gba deletion15
Escape from X-chromosome inactivation at KDM5C is driven by promoter-proximal DNA elements and enhanced by domain context15
Multi-ancestry genome-wide association study of gestational diabetes mellitus highlights genetic links with type 2 diabetes15
A transcriptomics-based drug repositioning approach to identify drugs with similar activities for the treatment of muscle pathologies in spinal muscular atrophy (SMA) models15
Correction to: Dysbindin-1 is a synaptic and microtubular protein that binds brain snapin15
A paradoxical genotype-phenotype relationship: Low level of GOSR2 translation from a non-AUG start codon in a family with profound hearing loss15
Admixture mapping analysis reveals differential genetic ancestry associated with Chagas disease susceptibility in the Colombian population15
Calibrating a functional assay for variant classification in RYR1-related malignant hyperthermia susceptibility15
Intronic elements associated with insomnia and restless legs syndrome exhibit cell-type-specific epigenetic features contributing to MEIS1 regulation15
The maternal protein NLRP5 stabilizes UHRF1 in the cytoplasm: implication for the pathogenesis of multilocus imprinting disturbance15
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 muscle15
Analysis for variable manifestations and molecular characteristics of pyridox(am)ine-5′-phosphate oxidase (PNPO) deficiency15
Cwc27, associated with retinal degeneration, functions as a splicing factorin vivo15
In-frame deletion of SPECC1L microtubule association domain results in gain-of-function phenotypes affecting embryonic tissue movement and fusion events15
A neurodevelopmental disorder associated with an activatingde novomissense variant inARF115
Human and pathogen-encoded circular RNAs in viral infections: insights into functions and therapeutic opportunities15
Dorsal telencephalon-specific Nprl2- and Nprl3-knockout mice: novel mouse models for GATORopathy15
Genome-wide association study of urinary cadmium levels in current smokers from the multiethnic cohort study15
Real-world evidence: Risdiplam in a patient with spinal muscular atrophy type I with a novel splicing mutation and one SMN2 copy14
Kinetin mediated mutant huntingtin phosphorylation restores multiple dysregulated pathways in a cell line model of Huntington’s disease14
Splicing analysis of 24 potential spliceogenic variants in MMR genes and clinical interpretation based on refined ACMG/AMP criteria14
NRSF regulates age-dependently cognitive ability and its conditional knockout in APP/PS1 mice moderately alters AD-like pathology14
Tissue- and cell-specific whole-transcriptome meta-analysis from brain and retina reveals differential expression of dystrophin complexes and new dystrophin spliced isoforms14
Tracing genetic connections of ancient Hungarians to the 6th–14th century populations of the Volga-Ural region14
CHARGE syndrome and related disorders: a mechanistic link14
Expression of Ripk1 and DAM genes correlates with severity and progression of Krabbe disease14
Lymphatic endothelial cell-specific NRAS p.Q61R mutant embryos show abnormal lymphatic vessel morphogenesis14
Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish14
Reciprocal and non-reciprocal effects of clinically relevant SETBP1 protein dosage changes14
Illuminating mitochondrial translation through mouse models14
Retinoids rescue ceruloplasmin secretion and alleviate oxidative stress in Wilson’s disease-specific hepatocytes14
Transcriptional downregulation of FAM3C/ILEI in the Alzheimer’s brain14
Distinct functional classes of PDGFRB pathogenic variants in primary familial brain calcification13
Genetic susceptibility to chronic diseases leads to heart failure among Europeans: the influence of leukocyte telomere length13
Dysregulated mitochondrial and cytosolic tRNA m1A methylation in Alzheimer’s disease13
Human calmodulin mutations cause arrhythmia and affect neuronal function in C. elegans13
Tumor suppressor genes are reactivated by miR-26A1 via enhancer reprogramming in NSCLC13
Deoxynucleoside supplementation ameliorates the disease associated phenotypes in a zebrafish model of RRM2B mtDNA depletion syndrome13
Scalable approaches for functional analyses of whole-genome sequencing non-coding variants13
5-Aminolevulinic acid bypasses mitochondrial complex I deficiency and corrects physiological dysfunctions in Drosophila13
Methylenetetrahydrofolate reductase deficiency and high-dose FA supplementation disrupt embryonic development of energy balance and metabolic homeostasis in zebrafish13
Coordinated pyruvate kinase activity is crucial for metabolic adaptation and cell survival during mitochondrial dysfunction13
Germline de novo variant F747S extends the phenotypic spectrum ofCACNA1DCa2+ channelopathies13
Mitochondrial abnormalities contribute to muscle weakness in a Dnajb6 deficient zebrafish model13
An integrated picture of chronic pancreatitis derived by mapping variants in multiple disease genes onto pathogenic pathways13
Lung adenocarcinoma cell-derived exosomes promote M2 macrophage polarization through transmission of miR-3153 to activate the JNK signaling pathway13
Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia13
Epigenome-wide methylation study identified two novel CpGs associated with T2DM risk and a network of co-methylated CpGs capable of patient’s classifications13
Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man13
SIRT1-driven mechanism: sevoflurane’s interference with mESC neural differentiation via PRRX1/DRD2 cascade13
Mitofusin 2 mutation drives cell proliferation in Charcot-Marie-Tooth 2A fibroblasts13
Elucidating the impact of Y chromosome microdeletions and altered gene expression on male fertility in assisted reproduction13
A functional variant ofCD40modulates clearance of hepatitis B virus in hepatocytes via regulation of the ANXA2/CD40/BST2 axis13
Longitudinal multimodal MRI characterization of a knock-in mouse model of Huntington’s disease reveals early gray and white matter alterations13
Use of adenine base editing and homology-independent targeted integration strategies to correct the cystic fibrosis causing variant, W1282X13
Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects13
Pregnenolone-methyl-ether enhances CLIP170 and microtubule functions improving spine maturation and hippocampal deficits related to CDKL5 deficiency12
Novel pathological variants of NHP2 affect N-terminal domain flexibility, protein stability, H/ACA Ribonucleoprotein (RNP) complex formation and telomerase activity12
Construction of a prognostic model for lung adenocarcinoma based on m6A/m5C/m1A genes12
Derivation of a minimal functional XIST by combining human and mouse interaction domains12
Single-cell transcriptome unveils mesenchymal cell diversity in endometriosis12
Generation of a mouse model of the neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome12
Methylome-wide association study of early life stressors and adult mental health12
A novel recessive mutation in OXR1 is identified in patient with hearing loss recapitulated by the knockdown zebrafish12
UBE2S, downregulated by miR-152-3p, facilitates prostate cancer progression through the PTEN-mediated AKT/mTOR pathway12
ZNF224 is a mediator of TGF-β pro-oncogenic function in melanoma12
Molecular alterations due to Col5a1 haploinsufficiency in a mouse model of classic Ehlers–Danlos syndrome12
Metformin induces lactate accumulation and accelerates renal cyst progression in Pkd1-deficient mice12
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 networks12
m6A RNA methylation regulates mitochondrial function12
Mutation burden analysis of six common mental disorders in African Americans by whole genome sequencing12
Case–case genome-wide association analysis identifying genetic loci with divergent effects on Crohn’s disease and ulcerative colitis12
Colocalization analysis of 3′ UTR alternative polyadenylation quantitative trait loci reveals novel mechanisms underlying associations with lung function12
Whole-exome sequencing and functional validation reveal a rare missense variant in MMP7 that confers ovarian endometriosis risk12
Constructing methylation-driven ceRNA networks unveil tumor heterogeneity and predict patient prognosis12
High throughput functional profiling of genes at intraocular pressure loci reveals distinct networks for glaucoma12
Activating mitofusins interrupts mitochondrial degeneration and delays disease progression in SOD1 mutant amyotrophic lateral sclerosis12
Driving Global Health equity and precision medicine through African genomic data12
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 retina12
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 mito12
Genetic correction of TRMU allele restored the mitochondrial dysfunction-induced deficiencies in iPSCs-derived hair cells of hearing-impaired patients12
Opposing effects of genetic variation in MTCH2 for obesity versus heart failure12
Correction to: Pathomechanisms of Monoallelic variants in TTN causing skeletal muscle disease12
Temporal transcriptomic landscape of postnatal mouse ovaries reveals dynamic gene signatures associated with ovarian aging12
Mitochondrial molecular genetics and human disease11
Socioeconomic changes predict genome-wide DNA methylation in childhood11
A novel framework for functional annotation of variants of uncertain significance in ID/ASD risk gene CC2D1A11
Systemic proteome phenotypes reveal defective metabolic flexibility in Mecp2 mutants11
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function11
Investigating DNA methylation as a mediator of genetic risk in childhood acute lymphoblastic leukemia11
A genome-wide association study for rheumatoid arthritis replicates previous HLA and non-HLA associations in a cohort from South Africa11
Mate-pair sequencing assisted prenatal counseling for a rare complex chromosomal rearrangement carrier11
TNFRSF10A downregulation induces retinal pigment epithelium degeneration during the pathogenesis of age-related macular degeneration and central serous chorioretinopathy11
Juvenile and adult expression of polyglutamine expanded huntingtin produce distinct aggregate distributions inDrosophilamuscle11
CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking11
Human DUX4 and porcine DUXC activate similar early embryonic programs in pig muscle cells: implications for preclinical models of FSHD11
CEBPB regulates the migration, invasion and EMT of breast cancer cells by inhibiting THBS2 expression and O-fucosylation11
Erratum to: The Jun-dependent axon regeneration gene program: Jun promotes regeneration over plasticity11
Lysyl oxidase-like 1-antisense 1 (LOXL1-AS1) lncRNA differentially regulates gene and protein expression, signaling and morphology of human ocular cells11
Lis1 mutation prevents basal radial glia-like cell production in the mouse11
Identification of hub genes and biological pathways related to central post-stroke pain in ischemic stroke11
Genome-wide association study in the Taiwan Biobank identifies four novel genes for human height:NABP2, RASA2, RNF41andSLC39A511
The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies11
Proteomic analysis identifies key differences in the cardiac interactomes of dystrophin and micro-dystrophin11
Common variants in SCN10A gene associated with Brugada syndrome11
FGF20andPGM2variants are associated with childhood asthma in family-based whole-genome sequencing studies11
Association of whole-person eigen-polygenic risk scores with Alzheimer’s disease11
Novel Dent disease 1 cellular models reveal biological processes underlying ClC-5 loss-of-function11
Cell-trafficking impairment in disease-associated LPA6 missense mutants and a potential pharmacoperone therapy for autosomal recessive woolly hair/hypotrichosis11
Hsa-miR223-3p circulating level is upregulated in Friedreich’s ataxia and inversely associated with HCLS1 associated protein X-1, HAX-111
Distinct roles of the dystrophin–glycoprotein complex: α-dystrobrevin and α-syntrophin in the maintenance of the postsynaptic apparatus of the neuromuscular synapse11
STING: a multifaced player in cellular homeostasis11
snRNA-seq analysis in multinucleated myogenic FSHD cells identifies heterogeneous FSHD transcriptome signatures associated with embryonic-like program activation and oxidative stress-induced apoptosis11
Molecular basis of diseases induced by the mitochondrial DNA mutation m.9032T>C11
Influence of PRKCE non-synonymous variants on protein dynamics and functionality10
Novel compound heterozygous mutations in UHRF1 are associated with atypical immunodeficiency, centromeric instability and facial anomalies syndrome with distinctive genome-wide DNA hypomethylat10
Correction to: The C-terminal extension of dyskerin is a dyskeratosis congenita mutational hotspot that modulates interaction with telomerase RNA and subcellular localization10
Correction to: Expanded CAG/CTG repeats resist gene silencing mediated by targeted epigenome editing10
Correction to: Protein QTL analysis of IGF-I and its binding proteins provides insights into growth biology10
α-synuclein inhibits Snx3-retromer retrograde trafficking of the conserved membrane-bound proprotein convertase Kex2 in the secretory pathway of Saccharomyces cerevisiae10
Compound heterozygous IFT81 variations in a skeletal ciliopathy patient cause Bardet–Biedl syndrome-like ciliary defects10
Prdx5 regulates DNA damage response through autophagy-dependent Sirt2-p53 axis10
TTC7A missense variants in intestinal disease can be classified by molecular and cellular phenotypes10
Bridging the splicing gap in human genetics with long-read RNA sequencing: finding the protein isoform drivers of disease10
Functional analysis of germlineRAD51Cmissense variants highlight the role of RAD51C in replication fork protection10
The nuclear export signal mediates mutant atrophin-1-induced neuropathology in a mouse model of DRPLA10
Deregulated ion channels contribute to RHOBTB2-associated developmental and epileptic encephalopathy10
Aggregates associated with amyotrophic lateral sclerosis sequester the actin-binding protein profilin 210
Excess membrane binding of monomeric alpha-, beta- and gamma-synuclein is invariably associated with inclusion formation and toxicity10
Three decades of genetic privacy: a metaphoric journey10
Trans-ancestry, Bayesian meta-analysis discovers 20 novel risk loci for inflammatory bowel disease in an African American, East Asian and European cohort10
Predicting prognosis and immunotherapy response in colorectal cancer by pericytes insights from single-cell RNA sequencing10
Correction to: Heterogeneity in the progression of retinal pathologies in mice harboring patient mimicking Impg2 mutations10
Ablation of the dystrophin Dp71f alternative C-terminal variant increases sarcoma tumour cell aggressiveness10
Systematic identification of genomic elements that regulateFCGR2Aexpression and harbor variants linked with autoimmune disease10
Integration of multiomic data identifies core-module of inherited-retinal diseases10
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria10
Deficit of PKHD1L1 in the dentate gyrus increases seizure susceptibility in mice10
Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanisms10
Disrupted phase behavior of FUS underlies poly-PR-induced DNA damage in amyotrophic lateral sclerosis10
Chromenone derivatives as novel pharmacological chaperones for retinitis pigmentosa-linked rod opsin mutants10
Integrating GWAS summary statistics, individual-level genotypic and omic data to enhance the performance for large-scale trait imputation10
Restoration of dystrophin expression in mdx muscle cells by chimeraplast-mediated exon skipping10
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