Human Molecular Genetics

Article	Citations
LRP8 inhibits bladder cancer cell ferroptosis by activating the Wnt/β-catenin-SCD1 positive feedback loop	75
UBE2S, downregulated by miR-152-3p, facilitates prostate cancer progression through the PTEN-mediated AKT/mTOR pathway	62
Study on the metastatic mechanism of LINC00115 in adenocarcinoma of the Esophagogastric junction	54
New selective androgen receptor modulator TEI-SARM2 improves muscle function in a Duchenne muscular dystrophy rat model	51
A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell mode	47
Strong evidence for genotype–phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium	45
An Nphp1 knockout mouse model targeting exon 2–20 demonstrates characteristic phenotypes of human nephronophthisis	45
A replication study of novel fetal hemoglobin-associated genetic variants in sickle cell disease-only cohorts	43
Modelling autosomal dominant optic atrophy associated with OPA1 variants in iPSC-derived retinal ganglion cells	43
Correction to: Pathomechanisms of Monoallelic variants in TTN causing skeletal muscle disease	42
Whole-genome sequencing reveals the impact of lipid pathway and APOE genotype on brain amyloidosis	41
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	41
Phenotypic recapitulation and correction of desmoglein-2-deficient cardiomyopathy using human-induced pluripotent stem cell-derived cardiomyocytes	38
Melanoma-associated fibroblasts in tumor-promotion flammation and antitumor immunity: novel mechanisms and potential immunotherapeutic strategies	36
Protective effects of a small molecule inhibitor ligand against hyperphosphorylated tau-induced mitochondrial and synaptic toxicities in Alzheimer disease	34
Mitochondrial aminoacyl-tRNA synthetases trigger unique compensatory mechanisms in neurons	34
The progranulin cleavage product granulin 3 exerts a dominant negative effect on animal fitness	33
Co-methylation analyses identify CpGs associated with lipid traits in Chinese discordant monozygotic twins	33
Clinical mutations in the TERT and TERC genes coding for telomerase components induced oxidative stress, DNA damage at telomeres and cell apoptosis besides decreased telomerase activity	33
Epigenomic profiling of the infrapatellar fat pad in osteoarthritis	31
Single nuclei RNA-seq reveals a medium spiny neuron glutamate excitotoxicity signature prior to the onset of neuronal death in an ovine Huntington’s disease model	31
Long term peripheral AAV9-SMN gene therapy promotes survival in a mouse model of spinal muscular atrophy	30
Identification of CAF-related lncRNAs at the pan-cancer level represents a potential carcinogenic risk	29
Decoding the Enigma: Translation Termination in Human Mitochondria	29
Base editing correction of OCRL in Lowe syndrome: ABE-mediated functional rescue in patient-derived fibroblasts	29

High throughput functional profiling of genes at intraocular pressure loci reveals distinct networks for glaucoma	29
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	28
Placental endocrine insufficiency programs anxiety, deficits in cognition and atypical social behaviour in offspring	28
A loss of function mutation in CLDN25 causing Pelizaeus-Merzbacher-like leukodystrophy	28
A pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and loss of YY1 binding	27
Mitochondrial DNA disorders: from pathogenic variants to preventing transmission	27
Assessing the impact of alcohol consumption on the genetic contribution to mean corpuscular volume	27
Cognitive deficits in episodic ataxia type 2 mouse models	27
Cellular and metabolic effects of renin-angiotensin system blockade on glycogen storage disease type I nephropathy	27
Epilepsy-causing Reelin mutations result in impaired secretion and intracellular degradation of mutant proteins	27
Human photoreceptor cells from different macular subregions have distinct transcriptional profiles	26
Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy	26
The autism risk gene CNTN4 modulates dendritic spine formation	25
Stress modulates Ahi1-dependent nuclear localization of ten-eleven translocation protein 2	25
Loss-of-function missense variant ofAKAP4induced male infertility through reduced interaction with QRICH2 during sperm flagella development	25
Exploring susceptibility and therapeutic targets for kidney stones through proteome-wide Mendelian randomization	24
Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease	24
Ectopic expression of CGG-repeats alters ovarian response to gonadotropins and leads to infertility in a murine FMR1 premutation model	24
The genetic architecture of hip shape and its role in the development of hip osteoarthritis and fracture	23
MCU-complex-mediated mitochondrial calcium signaling is impaired in Barth syndrome	23
Ovol2 promoter mutations in mice and human illuminate species-specific phenotypic divergence	23
De novo missense variants in FBXO11 alter its protein expression and subcellular localization	23
Constructing methylation-driven ceRNA networks unveil tumor heterogeneity and predict patient prognosis	23
Genome-wide association study of mitochondrial copy number	23
Colocalization analysis of 3′ UTR alternative polyadenylation quantitative trait loci reveals novel mechanisms underlying associations with lung function	22
Alternative polyadenylation shapes the molecular and clinical features of lung adenocarcinoma	22
Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis	22
TRIM25 activates Wnt/β-catenin signalling by destabilising MAT2A mRNA to drive thoracic aortic aneurysm development	22
Expression levels of core spliceosomal proteins modulate the MBNL-mediated spliceopathy in DM1	22
Sequence-to-expression approach to identify etiological non-coding DNA variations in P53 and cMYC-driven diseases	22
Molecular and cellular consequences of mitochondrial DNA double-stranded breaks	22
Small molecule 1a reduces FMRpolyG-mediated toxicity in in vitro and in vivo models for FMR1 premutation	22
Construction of a prognostic model for lung adenocarcinoma based on m6A/m5C/m1A genes	21
Genome-wide association study in the Taiwan Biobank identifies four novel genes for human height:NABP2, RASA2, RNF41andSLC39A5	21
Lack of association of somatic CAG repeat expansion with striatal neurodegeneration in HD knock-in animal models	21
Uplift of genetic diagnosis of rare respiratory disease using airway epithelium transcriptome analysis	21
Genetic andin uteroenvironmental contributions to DNA methylation variation in placenta	21
Methylome-wide association study of early life stressors and adult mental health	21
Nurr1 repression mediates cardinal features of Parkinson’s disease in α-synuclein transgenic mice	21
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	20
Deregulation of microtubule organization and RNA metabolism in Arx models for lissencephaly and developmental epileptic encephalopathy	20
Deficiency of the neurodevelopmental disorder-associated geneCyfip2alters the retinal ganglion cell properties and visual acuity	20
The novel potent GSK3 inhibitor AF3581 reverts fragile X syndrome phenotype	20
TNFRSF10A downregulation induces retinal pigment epithelium degeneration during the pathogenesis of age-related macular degeneration and central serous chorioretinopathy	20
A molecular map of long non-coding RNA expression, isoform switching and alternative splicing in osteoarthritis	20
ZNF224 is a mediator of TGF-β pro-oncogenic function in melanoma	20
ANNORE: genetic fine-mapping with functional annotation	20
Functional annotation and investigation of the 10q24.33 melanoma risk locus identifies a common variant that influences transcriptional regulation ofOBFC1	20
Antisense oligonucleotides targeting the SMN2 promoter region enhance SMN2 expression in spinal muscular atrophy cell lines and mouse model	19
Molecular alterations due to Col5a1 haploinsufficiency in a mouse model of classic Ehlers–Danlos syndrome	19

A combinatorial approach increases SMN level in SMA model mice	19
Generation of a mouse model of the neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome	19
Identifying candidate genes and drug targets for Alzheimer’s disease by an integrative network approach using genetic and brain region-specific proteomic data	19
Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders	19
Identifying causal serum protein–cardiometabolic trait relationships using whole genome sequencing	18
Large registry-based analysis of genetic predisposition to tuberculosis identifies genetic risk factors at HLA	18
Population-based genetic analysis in infertile men reveals novel mutations of ADAD family members in patients with impaired spermatogenesis	18
The lncRNA KTN1-AS1 co-regulates a variety of Myc-target genes and enhances proliferation of Burkitt lymphoma cells	18
Supt16haploinsufficiency causes neurodevelopment disorder by disrupting MAPK pathway in neural stem cells	18
Clinical characterization of a novel RAB39B nonstop mutation in a family with ASD and severe ID causing RAB39B downregulation and study of a Rab39b knock down mouse model	18
Biochemical characterization of two novel mutations in the human high-affinity choline transporter 1 identified in a patient with congenital myasthenic syndrome	18
Case–case genome-wide association analysis identifying genetic loci with divergent effects on Crohn’s disease and ulcerative colitis	18
Comparative genomic analyses of multiple backcross mouse populations suggestSGCGas a novel potential obesity-modifier gene	17
Genomic features of renal cell carcinoma developed during end-stage renal disease and dialysis	17
Mouse midbrain dopaminergic neurons survive loss of the PD-associated mitochondrial protein CHCHD2	17
Polygenic risk scores for prediction of breast cancer risk in women of African ancestry: a cross-ancestry approach	17
Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder	17
Pregnenolone-methyl-ether enhances CLIP170 and microtubule functions improving spine maturation and hippocampal deficits related to CDKL5 deficiency	17
From bugs to bedside: functional annotation of human genetic variation for neurological disorders using invertebrate models	17
Correction to: Genome-wide association studies identify two novel loci conferring susceptibility to diabetic retinopathy in Japanese patients with type 2 diabetes	17
Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role forMCM10in replication timing regulation	17
MATS: a novel multi-ancestry transcriptome-wide association study to account for heterogeneity in the effects of cis-regulated gene expression on complex traits	17
GWAS of thyroid dysgenesis identifies a risk locus at 2q33.3 linked to regulation of Wnt signaling	17
Ranbp1modulates morphogenesis of the craniofacial midline in mouse models of 22q11.2 deletion syndrome	17
Opposing effects of genetic variation in MTCH2 for obesity versus heart failure	17
A novel recessive mutation in OXR1 is identified in patient with hearing loss recapitulated by the knockdown zebrafish	16
Protein kinase CK2 modulates the activity of Maf-family bZIP transcription factor NRL in rod photoreceptors of mammalian retina	16
L1 chimeric transcripts are expressed in healthy brain and their deregulation in glioma follows that of their host locus	16
Identification of shared loci associated with both Crohn’s disease and leprosy in East Asians	16
Human Molecular Genetics Review Issue 2022	16
Disease correction in mucopolysaccharidosis type IIIB mice by intraparenchymal or cisternal delivery of a capsid modified AAV8 codon-optimized NAGLU vector	16
Genetic risk of osteoarthritis operates during human skeletogenesis	16
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	16
Developmental disruption to the cortical transcriptome and synaptosome in a model of SETD1A loss-of-function	16
Transcription factor FoxM1 promotes cyst growth in PKD1 mutant ADPKD	16
Site-specific decreases in DNA methylation in replicating cells following exposure to oxidative stress	16
Assigning pathogenicity for TAB2 variants using a novel scalable functional assay and expanding TAB2 disease spectrum	16
Phenome-wide screening of the putative causal determinants of depression using genetic data	16
Functional studies of lung cancer GWAS beyond association	16
AAV-mediated gene-replacement therapy restores viability of BCD patient iPSC derived RPE cells and vision of Cyp4v3 knockout mice	16
Chromosomal microdeletion leading to pituitary gigantism through hormone-gene overexpression	15
Genes positively regulated by Mef2c in cortical neurons are enriched for common genetic variation associated with IQ and educational attainment	15
Genome-wide identification of dominant polyadenylation hexamers for use in variant classification	15
CHCHD10 mutations induce tissue-specific mitochondrial DNA deletions with a distinct signature	15
Novel pathological variants of NHP2 affect N-terminal domain flexibility, protein stability, H/ACA Ribonucleoprotein (RNP) complex formation and telomerase activity	15
Toward a better understanding of PHTS heterogeneity: commentary on ‘Cell-type specific deficits in PTEN-mutant cortical organoids converge on abnormal circuit activity’	15
Talin variant P229S compromises integrin activation and associates with multifaceted clinical symptoms	15
TBN improves motor function and prolongs survival in a TDP-43M337V mouse model of ALS	15
Candidate pathway analysis of surfactant proteins identifiesCTSHandSFTA2that influences lung cancer risk	15
Multi-omic analysis of mandibuloacral dysplasia type A patient iPSC-derived MSC senescence reveals miR-311 as a novel biomarker for MSC senescence	15
Predicted leukocyte telomere length and risk of myeloid neoplasms	15
Correction to: G2019S LRRK2 enhances the neuronal transmission of tau in the mouse brain	15
Serum biomarkers are altered in UK Biobank participants with mosaic chromosomal alterations	15
Genome-wide association study identifies multiple HLA loci for sarcoidosis susceptibility	15
MeCP2 ubiquitination and sumoylation, in search of a function	15
A common single nucleotide variant in the cytokine receptor-like factor-3 (CRLF3) gene causes neuronal deficits in human and mouse cells	14
A novel mouse model of CMT1B identifies hyperglycosylation as a new pathogenetic mechanism	14
Mesenchymal stem cell-derived extracellular vesicles alleviate cervical cancer by delivering microRNA-331-3p to reduce LIM zinc finger domain containing 2 methylation in tumor cells	14
Genetic correction of TRMU allele restored the mitochondrial dysfunction-induced deficiencies in iPSCs-derived hair cells of hearing-impaired patients	14
Toward a deeper understanding of child mental health: commentary on ‘gene copy number variation and pediatric mental health/neurodevelopment in a general population’	14
Divergent phenotypes in constitutive versus conditional mutant mouse models of Sifrim-Hitz-Weiss syndrome	14
Huntingtin turnover: modulation of huntingtin degradation by cAMP-dependent protein kinase A (PKA) phosphorylation of C-HEAT domain Ser2550	14
Prenylation is essential for the enrichment of cone phosphodiesterase-6 (PDE6) in outer segments and efficient cone phototransduction	14
System-based integrated metabolomics and microRNA analysis identifies potential molecular alterations in human X-linked cerebral adrenoleukodystrophy brain	14
Genetic modeling of GNAO1 disorder delineates mechanisms of Gαo dysfunction	14
Loss of TMCC2 activates endoplasm reticulum stress and causes auditory hair cell death	14
Activating mitofusins interrupts mitochondrial degeneration and delays disease progression in SOD1 mutant amyotrophic lateral sclerosis	13
Interaction of huntingtin with PRMTs and its subsequent arginine methylation affects HTT solubility, phase transition behavior and neuronal toxicity	13
Expression of Concern: Cowden syndrome-associated germline SDHD variants alter PTEN nuclear translocation through SRC-induced PTEN oxidation	13
Origins of tissue and cell-type specificity in mitochondrial DNA (mtDNA) disease	13
Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome	13
The microRNA processorDROSHAis a candidate gene for a severe progressive neurological disorder	13
Pathogenic variants inGCSHencoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency	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
The role of alternative polyadenylation in epithelial-mesenchymal transition of non-small cell lung cancer	13
Activation of the cGAS-STING innate immune response in cells with deficient mitochondrial topoisomerase TOP1MT	13
Genetic and clinical determinants of abdominal aortic diameter: genome-wide association studies, exome array data and Mendelian randomization study	13
Functional validation of EIF2AK4 (GCN2) missense variants associated with pulmonary arterial hypertension	13
Whole-exome sequencing and functional validation reveal a rare missense variant in MMP7 that confers ovarian endometriosis risk	13
Mitochondrial protein synthesis quality control	13

Shared genetic liability and causal effects between major depressive disorder and insomnia	13
Mutation burden analysis of six common mental disorders in African Americans by whole genome sequencing	13
Comprehensive phenotypic and functional analysis of dominant and recessiveFOXE3alleles in ocular developmental disorders	13
Alzheimer’s disease risk gene CD2AP is a dose-sensitive determinant of synaptic structure and plasticity	13
Mitochondrial dysfunction and mitophagy defects in LRRK2-R1441C Parkinson’s disease models	13
Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases	13
Intrinsic link between PGRN and Gba1 D409V mutation dosage in potentiating Gaucher disease	13
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance	12
Rare and common genetic variants underlying the risk of Hirschsprung’s disease	12
Correction to: The genetic admixture and assimilation of Ahom: a historic migrant from Thailand to India	12
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease	12
Corrigendum to: TET2-mediated Cdkn2A DNA hydroxymethylation in midbrain dopaminergic neuron injury of Parkinson’s disease	12
De novovariants cause complex symptoms in HSP-ATL1(SPG3A) and uncover genotype–phenotype correlations	12
NEK1 haploinsufficiency worsens DNA damage, but not defective ciliogenesis, in C9ORF72 patient-derived iPSC-motoneurons	12
Predicting brain-regional gene regulatory networks from multi-omics for Alzheimer’s disease phenotypes and Covid-19 severity	12
Diminished DNA binding affinity of DMRT1 caused by heterozygous DM domain mutations is a cause of male infertility	12
Acid ceramidase involved in pathogenic cascade leading to accumulation of α-synuclein in iPSC model ofGBA1-associated Parkinson’s disease	12
Germline predisposition to hematopoietic malignancies	12
Choroid plexus-targeted viral gene therapy for alpha-mannosidosis, a prototypical neurometabolic lysosomal storage disease	12
Exome sequencing revealed PDE11A as a novel candidate gene for early-onset Alzheimer’s disease	12
Mate-pair sequencing assisted prenatal counseling for a rare complex chromosomal rearrangement carrier	12
A multiethnic whole genome sequencing study to identify novel loci for bone mineral density	12
MiR-200c-based metabolic modulation in glioblastoma cells as a strategy to overcome tumor chemoresistance	12
A humanized yeast model reveals dominant-negative properties of neuropathy-associated alanyl-tRNA synthetase mutations	12
Disease-associated mutations in Drp1 have fundamentally different effects on the mitochondrial fission machinery	12
Impaired cooperation between IFT74/BBS22–IFT81 and IFT25–IFT27/BBS19 causes Bardet-Biedl syndrome	12
PRDM10directsFLCNexpression in a novel disorder overlapping with Birt–Hogg–Dubé syndrome and familial lipomatosis	12
Advances in mouse genetics for the study of human disease	12
Neural-specific alterations in glycosphingolipid biosynthesis and cell signaling associated with two human ganglioside GM3 synthase deficiency variants	12
The role of CNBP in brain atrophy and its targeting in myotonic dystrophy type 2	12
Correction to: Mitophagy activation repairs Leber's hereditary optic neuropathy-associated mitochondrial dysfunction and improves cell survival	12
Mitochondrial oxidative stress contributes to the pathological aggregation and accumulation of tau oligomers in Alzheimer’s disease	12
Temporal transcriptomic landscape of postnatal mouse ovaries reveals dynamic gene signatures associated with ovarian aging	12
OUP accepted manuscript	12
Dissection of a Down syndrome-associated trisomy to separate the gene dosage-dependent and -independent effects of an extra chromosome	12
Therapeutic reduction of GGGGCC repeat RNA levels by hnRNPA3 suppresses neurodegeneration in Drosophila models of C9orf72-linked ALS/FTD	12
Correction to: Nilotinib reverses loss of dopamine neurons and improves motor behavior via autophagic degradation of α-synuclein in Parkinson's disease models	11
Socioeconomic changes predict genome-wide DNA methylation in childhood	11
Three decades of genetic privacy: a metaphoric journey	11
Erratum to: The Jun-dependent axon regeneration gene program: Jun promotes regeneration over plasticity	11
Genetic architecture of orbital telorism	11
Congenital heart defects caused by FOXJ1	11
Erratum to: De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations	11
Identification of hub genes and biological pathways related to central post-stroke pain in ischemic stroke	11
NovelLRRK2mutations and other rare, non-BAP1-related candidate tumor predisposition gene variants in high-risk cancer families with mesothelioma and other tumors	11
Functional genomic assays to annotate enhancer–promoter interactions genome wide	11
Non-coding RNAs associated with Prader–Willi syndrome regulate transcription of neurodevelopmental genes in human induced pluripotent stem cells	11
Clock genes rescue nphp mutations in zebrafish	11
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	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
Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases	11
Genetic architecture of microRNA expression and its link to complex diseases in the Japanese population	11
Correction to: Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease	11
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies	11
Association of whole-person eigen-polygenic risk scores with Alzheimer’s disease	11
Corrigendum to: A genome-wide association study implicates multiple mechanisms influencing raised urinary albumin–creatinine ratio	11
A gene regulatory network approach harmonizes genetic and epigenetic signals and reveals repurposable drug candidates for multiple sclerosis	11
The regulation of miRNAs using curcumin and other polyphenols during the prevention and treatment of Alzheimer’s disease	11
Integrated multi-omics analysis revealed the molecular networks and potential targets of cellular senescence in Alzheimer’s disease	11
Role of non-coding RNAs on liver metabolism and NAFLD pathogenesis	11
Skeletal muscle transcriptomics dissects the pathogenesis of Friedreich’s ataxia	11
5-aza-2-deoxycytidine improves skeletal muscle function in a mouse model for recessive RYR1-related congenital myopathy	11
Continuous, but not intermittent, regimens of hypoxia prevent and reverse ataxia in a murine model of Friedreich’s ataxia	11
High-altitude pulmonary edema is aggravated by risk loci and associated transcription factors in HIF-prolyl hydroxylases	11
A TAF11 variant contributes to non-syndromic cleft lip only through modulating neural crest cell migration	11
Investigation of common genetic risk factors between thyroid traits and breast cancer	10
An epileptic encephalopathy associatedGABRG2missense mutation leads to pre- and postsynaptic defects in zebrafish	10
Toxicity of pathogenic ataxin-2 inDrosophilashows dependence on a pure CAG repeat sequence	10
COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis	10
Prenatal inflammation as a link between placental expression signature of tryptophan metabolism and preterm birth	10
Memory decline, anxiety and depression in the mouse model of spinocerebellar ataxia type 3	10
CEBPB regulates the migration, invasion and EMT of breast cancer cells by inhibiting THBS2 expression and O-fucosylation	10
GWAS of genetic factors affecting white blood cell morphological parameters in Sardinians uncovers influence of chromosome 11 innate immunity gene cluster on eosinophil morphology	10
Correction to: SCN1A: bioinformatically informed revised boundaries for promoter and enhancer regions	10
FGF20andPGM2variants are associated with childhood asthma in family-based whole-genome sequencing studies	10
Cryptic splice mutation in the fumarate hydratase gene in patients with clinical manifestations of Hereditary Leiomyomatosis and Renal Cell Cancer	10
Rheumatoid arthritis and osteoporosis: shared genetic effect, pleiotropy and causality	10
From APC to the genetics of hereditary and familial colon cancer syndromes	10
Rare protective variants and glaucoma-relevant cell stressors modulate Angiopoietin-like 7 expression	10
Uncovering oligodendrocyte enhancers that control Cnp expression	10
Identification of novel compound heterozygous variants in the SLC30A7 (ZNT7) gene in two French brothers with stunted growth, testicular hypoplasia and bone marrow failure	10
Juvenile and adult expression of polyglutamine expanded huntingtin produce distinct aggregate distributions inDrosophilamuscle	10
Cell-trafficking impairment in disease-associated LPA6 missense mutants and a potential pharmacoperone therapy for autosomal recessive woolly hair/hypotrichosis	10
Mutations in human DNA methyltransferase DNMT1 induce specific genome-wide epigenomic and transcriptomic changes in neurodevelopment	10
NGLY1 deficiency: a prospective natural history study	10
Effective therapeutic strategies in a preclinical mouse model of Charcot–Marie–Tooth disease	10
Lack of evidence for GWAS signals of exfoliation glaucoma working via monogenic loss-of-function mutation in the nearest gene	10
Elucidating the toxic effect and disease mechanisms associated with Lyso-Gb3 in Fabry disease	10
Integrator complex subunit 15 controls mRNA splicing and is critical for eye development	10
Systemic proteome phenotypes reveal defective metabolic flexibility in Mecp2 mutants	10
Human DUX4 and porcine DUXC activate similar early embryonic programs in pig muscle cells: implications for preclinical models of FSHD	10
Lysyl oxidase-like 1-antisense 1 (LOXL1-AS1) lncRNA differentially regulates gene and protein expression, signaling and morphology of human ocular cells	10
The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies	9
Multisystem involvement, defective lysosomes and impaired autophagy in a novel rat model of nephropathic cystinosis	9
CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking	9