Human Molecular Genetics

Article	Citations
Epigenome-wide change and variation in DNA methylation in childhood: trajectories from birth to late adolescence	82
Multi-ancestry genome-wide association study of gestational diabetes mellitus highlights genetic links with type 2 diabetes	60
Separating the genetics of childhood and adult obesity: a validation study of genetic scores for body mass index in adolescence and adulthood in the HUNT Study	49
Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein responses	49
Detailed stratified GWAS analysis for severe COVID-19 in four European populations	48
Protective effects of mitophagy enhancers against amyloid beta-induced mitochondrial and synaptic toxicities in Alzheimer disease	48
Assessing the relationship between monoallelic PRKN mutations and Parkinson’s risk	44
Mitochondria–lysosome membrane contacts are defective in GDAP1-related Charcot–Marie–Tooth disease	42
Novel genes and sex differences in COVID-19 severity	40
Protective effects of antidepressant citalopram against abnormal APP processing and amyloid beta-induced mitochondrial dynamics, biogenesis, mitophagy and synaptic toxicities in Alzheimer’s disease	40
Strong evidence for genotype–phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium	38
Evolutionary history of sickle-cell mutation: implications for global genetic medicine	37
Kidney disease and APOL1	36
Genome-wide association study of circulating interleukin 6 levels identifies novel loci	36
Selective serotonin reuptake inhibitor citalopram ameliorates cognitive decline and protects against amyloid beta-induced mitochondrial dynamics, biogenesis, autophagy, mitophagy and synaptic toxiciti	35
Linking genome variants to disease: scalable approaches to test the functional impact of human mutations	34
Functional rescue in an Angelman syndrome model following treatment with lentivector transduced hematopoietic stem cells	34
Loss of DRC1 function leads to multiple morphological abnormalities of the sperm flagella and male infertility in human and mouse	33
Higher adiposity and mental health: causal inference using Mendelian randomization	33
Cis-acting modifiers in the ABCA4 locus contribute to the penetrance of the major disease-causing variant in Stargardt disease	33
Methylated and unmethylated epialleles support variegated epigenetic silencing in Friedreich ataxia	32
Mitochondrial oxidative stress contributes to the pathological aggregation and accumulation of tau oligomers in Alzheimer’s disease	32
Integrative analyses of scRNA-seq and scATAC-seq reveal CXCL14 as a key regulator of lymph node metastasis in breast cancer	32
Dysregulated mitochondrial and cytosolic tRNA m1A methylation in Alzheimer’s disease	32
Choroidal endothelial and macrophage gene expression in atrophic and neovascular macular degeneration	32

Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia	31
Ethnic, gender and other sociodemographic biases in genome-wide association studies for the most burdensome non-communicable diseases: 2005–2022	31
Pharmacological activation of SERCA ameliorates dystrophic phenotypes in dystrophin-deficient mdx mice	30
Integrative genomics analysis reveals a 21q22.11 locus contributing risk to COVID-19	30
APOL1 risk variants affect podocyte lipid homeostasis and energy production in focal segmental glomerulosclerosis	29
Advances in mouse genetics for the study of human disease	29
Multiomics analyses reveal early metabolic imbalance and mitochondrial stress in neonatal photoreceptors leading to cell death in Pde6brd1/rd1 mouse model of retinal degeneration	28
Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs	27
Prenatal inflammation as a link between placental expression signature of tryptophan metabolism and preterm birth	27
Bantu-speaker migration and admixture in southern Africa	26
Aggregating multiple expression prediction models improves the power of transcriptome-wide association studies	25
Shared genetic liability and causal effects between major depressive disorder and insomnia	25
Identification of LRRK2 missense variants in the accelerating medicines partnership Parkinson’s disease cohort	25
Single-cell ATAC-Seq reveals cell type-specific transcriptional regulation and unique chromatin accessibility in human spermatogenesis	25
Evolutionary genetics of skin pigmentation in African populations	25
Identification of causal metabolites related to multiple autoimmune diseases	25
Homeostatic p62 levels and inclusion body formation in CHCHD2 knockout mice	25
Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy	25
A partial reduction of Drp1 improves cognitive behavior and enhances mitophagy, autophagy and dendritic spines in a transgenic Tau mouse model of Alzheimer disease	24
Genetic modeling of GNAO1 disorder delineates mechanisms of Gαo dysfunction	24
Three decades of ASD genetics: building a foundation for neurobiological understanding and treatment	24
High-fat diet–induced activation of SGK1 promotes Alzheimer’s disease–associated tau pathology	24
Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53	24
Allele-specific variation atAPOEincreases nonalcoholic fatty liver disease and obesity but decreases risk of Alzheimer’s disease and myocardial infarction	22
CFAP65 is required in the acrosome biogenesis and mitochondrial sheath assembly during spermiogenesis	22
Loss-of-function missense variant ofAKAP4induced male infertility through reduced interaction with QRICH2 during sperm flagella development	22
Multi-influential genetic interactions alter behaviour and cognition through six main biological cascades in Down syndrome mouse models	22
Impaired cooperation between IFT74/BBS22–IFT81 and IFT25–IFT27/BBS19 causes Bardet-Biedl syndrome	22
Interaction of huntingtin with PRMTs and its subsequent arginine methylation affects HTT solubility, phase transition behavior and neuronal toxicity	22
A novel somatic mutation inGNB2provides new insights to the pathogenesis of Sturge–Weber syndrome	22
Novel mutations in the WFS1 gene are associated with Wolfram syndrome and systemic inflammation	22
Human photoreceptor cells from different macular subregions have distinct transcriptional profiles	22
Disulfide bond formation in microtubule-associated tau protein promotes tau accumulation and toxicity in vivo	21
O-GlcNAc transferase Ogt regulates embryonic neuronal development through modulating Wnt/β-catenin signaling	21
Exosomal transfer of activated neutrophil-derived lncRNA CRNDE promotes proliferation and migration of airway smooth muscle cells in asthma	21
Huntington’s disease: nearly four decades of human molecular genetics	21
RTL1/PEG11 imprinted in human and mouse brain mediates anxiety-like and social behaviors and regulates neuronal excitability in the locus coeruleus	21
Phenotypic recapitulation and correction of desmoglein-2-deficient cardiomyopathy using human-induced pluripotent stem cell-derived cardiomyocytes	21
Transethnic analysis of the human leukocyte antigen region for ulcerative colitis reveals not only shared but also ethnicity-specific disease associations	21
Fine-mapping of Parkinson’s disease susceptibility loci identifies putative causal variants	21
The deep population history in Africa	20
Non-canonical initiation factors modulate repeat-associated non-AUG translation	20
Whole exome sequencing of known eye genes reveals genetic causes for high myopia	20
Deleterious variants inCRLS1lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease	20
Germline predisposition to hematopoietic malignancies	20
Novel frameshift mutation in STK33 is associated with asthenozoospermia and multiple morphological abnormalities of the flagella	20
From APC to the genetics of hereditary and familial colon cancer syndromes	20
Mitochondrial DNA disorders: from pathogenic variants to preventing transmission	20
Brain-specific heterozygous loss-of-function of ATP2A2, endoplasmic reticulum Ca2+ pump responsible for Darier’s disease, causes behavioral abnormalities and a hyper-dopaminergic state	20
Molecular basis of ciliary defects caused by compound heterozygous IFT144/WDR19 mutations found in cranioectodermal dysplasia	19

Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features	19
A molecular map of long non-coding RNA expression, isoform switching and alternative splicing in osteoarthritis	19
Transverse endoplasmic reticulum expansion in hereditary spastic paraplegia corticospinal axons	19
Integration of genetically regulated gene expression and pharmacological library provides therapeutic drug candidates	18
A Neurexin2aa deficiency results in axon pathfinding defects and increased anxiety in zebrafish	18
PAK1 inhibition reduces tumor size and extends the lifespan of mice in a genetically engineered mouse model of Neurofibromatosis Type 2 (NF2)	18
Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations	18
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice	18
Multi-omics analysis to identify susceptibility genes for colorectal cancer	18
Genome-wide association studies identify two novel loci conferring susceptibility to diabetic retinopathy in Japanese patients with type 2 diabetes	18
Ryanodine receptor remodeling in cardiomyopathy and muscular dystrophy caused by lamin A/C gene mutation	18
Genetic architecture of microRNA expression and its link to complex diseases in the Japanese population	18
Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations	18
The Y chromosome and its impact on health and disease	18
Pathogenic alleles in microtubule, secretory granule and extracellular matrix-related genes in familial keratoconus	18
Anthropological genetics perspectives on the transatlantic slave trade	18
RPGR isoform imbalance causes ciliary defects due to exon ORF15 mutations in X-linked retinitis pigmentosa (XLRP)	17
NSD1 mutations deregulate transcription and DNA methylation of bivalent developmental genes in Sotos syndrome	17
A plasma metabolomic signature of Leber hereditary optic neuropathy showing taurine and nicotinamide deficiencies	17
Transcriptional downregulation of FAM3C/ILEI in the Alzheimer’s brain	17
Genome-wide polygenic risk score for retinopathy of type 2 diabetes	17
Nesprin-1 LINC complexes recruit microtubule cytoskeleton proteins and drive pathology inLmna-mutant striated muscle	17
Transcriptome of HPβCD-treated Niemann-Pick disease type C1 cells highlights GPNMB as a biomarker for therapeutics	17
Functional studies of lung cancer GWAS beyond association	17
Dimethyl fumarate dose-dependently increases mitochondrial gene expression and function in muscle and brain of Friedreich’s ataxia model mice	17
Systemic antisense therapeutics inhibiting DUX4 expression ameliorates FSHD-like pathology in an FSHD mouse model	17
ALS/FTD-causing mutation in cyclin F causes the dysregulation of SFPQ	17
Cytoplasmic TDP-43 is involved in cell fate during stress recovery	17
The alternative initiation factor eIF2A plays key role in RAN translation of myotonic dystrophy type 2 CCUG•CAGG repeats	17
Rare complement factor I variants associated with reduced macular thickness and age-related macular degeneration in the UK Biobank	17
Identifying oligodendrocyte enhancers governing Plp1 expression	17
Discovery and fine-mapping of kidney function loci in first genome-wide association study in Africans	16
The rareC9P167S risk variant for age-related macular degeneration increases polymerization of the terminal component of the complement cascade	16
Protective effects of a small molecule inhibitor ligand against hyperphosphorylated tau-induced mitochondrial and synaptic toxicities in Alzheimer disease	16
Cellular and behavioral effects of altered NaV1.2 sodium channel ion permeability in Scn2a K1422E mice	16
When is an obscurin variant pathogenic? The impact of Arg4344Gln and Arg4444Trp variants on protein–protein interactions and protein stability	16
Blood copper and risk of cardiometabolic diseases: a Mendelian randomization study	16
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating	16
Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter	15
Sexual dimorphism in cancer: insights from transcriptional signatures in kidney tissue and renal cell carcinoma	15
CRISPR gene editing in pluripotent stem cells reveals the function of MBNL proteins during humanin vitromyogenesis	15
The demography of the Canary Islands from a genetic perspective	15
Mutant Nmnat1 leads to a retina-specific decrease of NAD+ accompanied by increased poly(ADP-ribose) in a mouse model of NMNAT1-associated retinal degeneration	15
MCU-complex-mediated mitochondrial calcium signaling is impaired in Barth syndrome	15
Genomic characterization of the adolescent idiopathic scoliosis-associated transcriptome and regulome	15
Photoreceptor cilia, in contrast to primary cilia, grant entry to a partially assembled BBSome	15
De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality	15
Ambroxol reverses tau and α-synuclein accumulation in a cholinergic N370S GBA1 mutation model	15
Microtubule-associated protein 1B dysregulates microtubule dynamics and neuronal mitochondrial transport in spinal muscular atrophy	15
C/D box snoRNA SNORD113-6/AF357425 plays a dual role in integrin signalling and arterial fibroblast function via pre-mRNA processing and 2′O-ribose methylation	15
Natural history of KBG syndrome in a large European cohort	15
Elongin C (ELOC/TCEB1)-associated von Hippel–Lindau disease	15
Impaired neuronal activity and differential gene expression in STXBP1 encephalopathy patient iPSC-derived GABAergic neurons	15
A cross-tissue transcriptome-wide association study identifies novel susceptibility genes for lung cancer in Chinese populations	15
Immunomodulatory functions of the circ_001678/miRNA-326/ZEB1 axis in non-small cell lung cancer via the regulation of PD-1/PD-L1 pathway	15
A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome	15
Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases	15
ADAM10 hyperactivation acts on piccolo to deplete synaptic vesicle stores in Huntington’s disease	14
Formation of keto-type ceramides in palmoplantar keratoderma based on biallelic KDSR mutations in patients	14
Increasing LRP4 diminishes neuromuscular deficits in a mouse model of Duchenne muscular dystrophy	14
Temporal dissection of Rai1 function reveals brain-derived neurotrophic factor as a potential therapeutic target for Smith–Magenis syndrome	14
Brain cell type-specific endocytosis of arylsulfatase A identifies limitations of enzyme-based therapies for metachromatic leukodystrophy	14
Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia	14
Snord116 Post-transcriptionally Increases Nhlh2 mRNA Stability: Implications for Human Prader-Willi Syndrome	14
mTOR inhibitors reduce enteropathy, intestinal bleeding and colectomy rate in patients with juvenile polyposis of infancy with PTEN-BMPR1A deletion	14
Rheumatoid arthritis and osteoporosis: shared genetic effect, pleiotropy and causality	14
Lysosomal ceramides regulate cathepsin B-mediated processing of saposin C and glucocerebrosidase activity	14
Constitutive nuclear accumulation of endogenous alpha-synuclein in mice causes motor impairment and cortical dysfunction, independent of protein aggregation	14
X-factors in human disease: impact of gene content and dosage regulation	14
Ap2s1 mutation causes hypercalcaemia in mice and impairs interaction between calcium-sensing receptor and adaptor protein-2	14
Embryo cryopreservation leads to sex-specific DNA methylation perturbations in both human and mouse placentas	13
Leber’s hereditary optic neuropathy-associated ND6 14484T > C mutation caused pleiotropic effects on the complex I, RNA homeostasis, apoptosis and mitophagy	13
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease	13
Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility	13
Association with HLA-DRβ1 position 37 distinguishes juvenile dermatomyositis from adult-onset myositis	13
A multiethnic whole genome sequencing study to identify novel loci for bone mineral density	13
A Mendelian randomization study to assess the genetic liability of gastroesophageal reflux disease for cardiovascular diseases and risk factors	13
Identification of the GlialCAM interactome: the G protein-coupled receptors GPRC5B and GPR37L1 modulate megalencephalic leukoencephalopathy proteins	13
Touchscreen cognitive deficits, hyperexcitability and hyperactivity in males and females using two models ofCdkl5deficiency	13
Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutations	13

Nanopore direct RNA sequencing detects DUX4-activated repeats and isoforms in human muscle cells	13
NCOA3identified as a new candidate to explain autosomal dominant progressive hearing loss	13
Dorsal telencephalon-specific Nprl2- and Nprl3-knockout mice: novel mouse models for GATORopathy	13
Population history of North Africa based on modern and ancient genomes	13
Bridging the splicing gap in human genetics with long-read RNA sequencing: finding the protein isoform drivers of disease	13
Imputed gene expression risk scores: a functionally informed component of polygenic risk	13
The number of the CTCF binding sites of the H19/IGF2:IG-DMR correlates with DNA methylation and expression imprinting in a humanized mouse model	13
Heritability and family-based GWAS analyses of the N-acyl ethanolamine and ceramide plasma lipidome	13
Mosaic IL6ST variant inducing constitutive GP130 cytokine receptor signaling as a cause of neonatal onset immunodeficiency with autoinflammation and dysmorphy	12
Discovery of genomic variation across a generation	12
Trametinib as a promising therapeutic option in alleviating vascular defects in an endothelial KRAS-induced mouse model	12
Genetic evidence and historical theories of the Asian and African origins of the present Malagasy population	12
Proteomic analysis identifies key differences in the cardiac interactomes of dystrophin and micro-dystrophin	12
Acute and chronic tirasemtiv treatment improves in vivo and in vitro muscle performance in actin-based nemaline myopathy mice	12
Nurr1 repression mediates cardinal features of Parkinson’s disease in α-synuclein transgenic mice	12
Genome-wide gene–diet interaction analysis in the UK Biobank identifies novel effects on hemoglobin A1c	12
De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus	12
The Jun-dependent axon regeneration gene program: Jun promotes regeneration over plasticity	12
Transcriptome-wide association study in UK Biobank Europeans identifies associations with blood cell traits	12
Influence of PRKCE non-synonymous variants on protein dynamics and functionality	12
Altered hydroxymethylome in the substantia nigra of Parkinson’s disease	12
Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) inCaenorhabditis elegans	12
Genetic risk factors and COVID-19 severity in Brazil: results from BRACOVID study	12
Metformin induces lactate accumulation and accelerates renal cyst progression in Pkd1-deficient mice	12
Exome sequencing revealed PDE11A as a novel candidate gene for early-onset Alzheimer’s disease	12
Human adaptation, demography and cattle domestication: an overview of the complexity of lactase persistence in Africa	12
Polygenic risk scores for prediction of breast cancer risk in women of African ancestry: a cross-ancestry approach	12
Thyroid function, pernicious anemia and erythropoiesis: a two-sample Mendelian randomization study	12
The fly homolog ofSUPT16H, a gene associated with neurodevelopmental disorders, is required in a cell-autonomous fashion for cell survival	12
Single-cell RNA sequencing reveals transcriptional changes of human choroidal and retinal pigment epithelium cells during fetal development, in healthy adult and intermediate age-related macular degen	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
Loss of ten-eleven translocation 2 induces cardiac hypertrophy and fibrosis through modulating ERK signaling pathway	12
Stress modulates Ahi1-dependent nuclear localization of ten-eleven translocation protein 2	12
Investigation of the causal relationships between human IgG N-glycosylation and 12 common diseases associated with changes in the IgG N-glycome	12
Genetic andin uteroenvironmental contributions to DNA methylation variation in placenta	12
Calcium is reduced in presynaptic mitochondria of motor nerve terminals during neurotransmission in SMA mice	11
A mouse model of BBS identifies developmental and homeostatic effects of BBS5 mutation and identifies novel pituitary abnormalities	11
G3BP1-dependent mechanism suppressing protein aggregation in Huntington’s models and its demise upon stress granule assembly	11
Has translational genomics come of age in Africa?	11
Three decades of genetic privacy: a metaphoric journey	11
NovelLRRK2mutations and other rare, non-BAP1-related candidate tumor predisposition gene variants in high-risk cancer families with mesothelioma and other tumors	11
Genetic risk of osteoarthritis operates during human skeletogenesis	11
Dementia with Lewy bodies—associated ß-synuclein mutations V70M and P123H cause mutation-specific neuropathological lesions	11
Glutathione S-transferase Pi (Gstp) proteins regulate neuritogenesis in the developing cerebral cortex	11
Longitudinal multimodal MRI characterization of a knock-in mouse model of Huntington’s disease reveals early gray and white matter alterations	11
Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function	11
Multivariate genome-wide analysis of immunoglobulin G N-glycosylation identifies new loci pleiotropic with immune function	11
Clinical, pathological and genetic features and follow-up of 110 patients with late-onset MADD: a single-center retrospective study	11
The vitamin A transporter STRA6 adjusts the stoichiometry of chromophore and opsins in visual pigment synthesis and recycling	11
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies	11
Genotype & phenotype in Lowe Syndrome: specificOCRL1patient mutations differentially impact cellular phenotypes	11
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease	11
Activation of the cGAS-STING innate immune response in cells with deficient mitochondrial topoisomerase TOP1MT	11
Modelling autosomal dominant optic atrophy associated with OPA1 variants in iPSC-derived retinal ganglion cells	11
Whole genome sequence analysis of platelet traits in the NHLBI Trans-Omics for Precision Medicine (TOPMed) initiative	11
A conserved ATG2 binding site in WIPI4 and yeast Hsv2 is disrupted by mutations causing β-propeller protein-associated neurodegeneration	11
Development and validation of prognostic and diagnostic model for pancreatic ductal adenocarcinoma based on scRNA-seq and bulk-seq datasets	11
SS-31 efficacy in a mouse model of Friedreich ataxia by upregulation of frataxin expression	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
Morphological, behavioral and cellular analyses revealed different phenotypes in Wolfram syndrome wfs1a and wfs1b zebrafish mutant lines	11
Genome-wide association study of cardiac troponin I in the general population	11
TrkA mediates effect of novel KIDINS220 mutation in human brain ventriculomegaly	11
An Nphp1 knockout mouse model targeting exon 2–20 demonstrates characteristic phenotypes of human nephronophthisis	11
TBN improves motor function and prolongs survival in a TDP-43M337V mouse model of ALS	11
Whole exome sequence analysis in 51 624 participants identifies novel genes and variants associated with refractive error and myopia	11
Ancient and modern mitogenomes from Central Argentina: new insights into population continuity, temporal depth and migration in South America	11
MiR-592 activates the mTOR kinase, ERK1/ERK2 kinase signaling and imparts neuronal differentiation signature characteristic of Group 4 medulloblastoma	10
A rare missense variant in theATP2C2gene is associated with language impairment and related measures	10
WNT11, a new gene associated with early onset osteoporosis, is required for osteoblastogenesis	10
Eif2b3 mutants recapitulate phenotypes of vanishing white matter disease and validate novel disease alleles in zebrafish	10
Novel Dent disease 1 cellular models reveal biological processes underlying ClC-5 loss-of-function	10
Relationship between glucose homeostasis and obesity in early life—a study of Italian children and adolescents	10
Comprehensive phenotypic and functional analysis of dominant and recessiveFOXE3alleles in ocular developmental disorders	10
Genetic correction of TRMU allele restored the mitochondrial dysfunction-induced deficiencies in iPSCs-derived hair cells of hearing-impaired patients	10
Small molecule 1a reduces FMRpolyG-mediated toxicity in in vitro and in vivo models for FMR1 premutation	10
Protein misfolding and clearance in the pathogenesis of a new infantile onset ataxia caused by mutations in PRDX3	10
Genetic modifiers modulate phenotypic expression of tafazzin deficiency in a mouse model of Barth syndrome	10
Myotonic dystrophy type 1 (DM1) clinical subtypes and CTCF site methylation status flanking the CTG expansion are mutant allele length-dependent	10
SNP-adjacent super enhancer network mediates enhanced osteogenic differentiation of MSCs in ankylosing spondylitis	10
Evolutionary forces in diabetes and hypertension pathogenesis in Africans	10
Genetic and pharmacological PARP inhibition reduces axonal degeneration in C. elegans models of ALS	10
Protective effects of a small-molecule inhibitor DDQ against tau-induced toxicities in a transgenic tau mouse model of Alzheimer’s disease	10
A pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and loss of YY1 binding	10
Epilepsy-causing Reelin mutations result in impaired secretion and intracellular degradation of mutant proteins	10
De novovariants cause complex symptoms in HSP-ATL1(SPG3A) and uncover genotype–phenotype correlations	10
The International Human Genome Project	10
ALS/FTD mutations in UBQLN2 are linked to mitochondrial dysfunction through loss-of-function in mitochondrial protein import	10
Generation of advanced cerebellar organoids for neurogenesis and neuronal network development	10
Breast cancer cell-derived exosome-delivered microRNA-155 targets UBQLN1 in adipocytes and facilitates cancer cachexia-related fat loss	10
OUP accepted manuscript	10
Elevated plasma complement components in facioscapulohumeral dystrophy	10
PRDM10directsFLCNexpression in a novel disorder overlapping with Birt–Hogg–Dubé syndrome and familial lipomatosis	10
Ceramide contributes to pathogenesis and may be targeted for therapy in VCP inclusion body myopathy	10
Cognitive deficits in episodic ataxia type 2 mouse models	10
Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism	10