Human Molecular Genetics

Article	Citations
Reviewing the genetics of heterogeneity in depression: operationalizations, manifestations and etiologies	88
Trem2 promotes anti-inflammatory responses in microglia and is suppressed under pro-inflammatory conditions	77
Patterns of CAG repeat instability in the central nervous system and periphery in Huntington’s disease and in spinocerebellar ataxia type 1	75
Epigenome-wide change and variation in DNA methylation in childhood: trajectories from birth to late adolescence	68
Gene therapy for Alzheimer’s disease targeting CD33 reduces amyloid beta accumulation and neuroinflammation	59
Multi-ancestry genome-wide association study of gestational diabetes mellitus highlights genetic links with type 2 diabetes	51
Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington’s disease knock-in mice is blocked by Mlh1 knock-out	49
Integrative genomics approach identifies conserved transcriptomic networks in Alzheimer’s disease	49
The emerging field of polygenic risk scores and perspective for use in clinical care	46
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	44
Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein responses	44
Whole-exome sequencing of a large Chinese azoospermia and severe oligospermia cohort identifies novel infertility causative variants and genes	42
Detailed stratified GWAS analysis for severe COVID-19 in four European populations	41
Protective effects of mitophagy enhancers against amyloid beta-induced mitochondrial and synaptic toxicities in Alzheimer disease	40
The phenomenal epigenome in neurodevelopmental disorders	38
Correction of amyotrophic lateral sclerosis related phenotypes in induced pluripotent stem cell-derived motor neurons carrying a hexanucleotide expansion mutation in C9orf72 by CRISPR/Cas9 genome edit	37
Glucocerebrosidase deficiency promotes release of α-synuclein fibrils from cultured neurons	37
Mitochondria–lysosome membrane contacts are defective in GDAP1-related Charcot–Marie–Tooth disease	37
Assessing the relationship between monoallelic PRKN mutations and Parkinson’s risk	37
Protective effects of antidepressant citalopram against abnormal APP processing and amyloid beta-induced mitochondrial dynamics, biogenesis, mitophagy and synaptic toxicities in Alzheimer’s disease	36
Effect of rare coding variants in the CFI gene on Factor I expression levels	34
Strong evidence for genotype–phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium	34
Novel genes and sex differences in COVID-19 severity	33
The mechanistic role of alpha-synuclein in the nucleus: impaired nuclear function caused by familial Parkinson’s disease SNCA mutations	33
Lysine acetylation regulates the RNA binding, subcellular localization and inclusion formation of FUS	33

Genome-wide association study of circulating interleukin 6 levels identifies novel loci	32
Evolutionary history of sickle-cell mutation: implications for global genetic medicine	32
Kidney disease and APOL1	31
Longitudinal increases in somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 are associated with variation in age-at-onset	31
Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia	30
Methylated and unmethylated epialleles support variegated epigenetic silencing in Friedreich ataxia	30
Selective serotonin reuptake inhibitor citalopram ameliorates cognitive decline and protects against amyloid beta-induced mitochondrial dynamics, biogenesis, autophagy, mitophagy and synaptic toxiciti	30
Higher adiposity and mental health: causal inference using Mendelian randomization	30
Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms	30
Linking genome variants to disease: scalable approaches to test the functional impact of human mutations	29
SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization	29
Cis-acting modifiers in the ABCA4 locus contribute to the penetrance of the major disease-causing variant in Stargardt disease	29
Discoidin Domain Receptor 1 is a therapeutic target for neurodegenerative diseases	29
Fine-mapping genetic associations	29
Integrative genomics analysis reveals a 21q22.11 locus contributing risk to COVID-19	28
Low-pass whole genome bisulfite sequencing of neonatal dried blood spots identifies a role for RUNX1 in Down syndrome DNA methylation profiles	28
Pharmacological activation of SERCA ameliorates dystrophic phenotypes in dystrophin-deficient mdx mice	28
Advances in mouse genetics for the study of human disease	27
Insights into genetic variants associated with NASH-fibrosis from metabolite profiling	27
Genome-wide association study of corneal biomechanical properties identifies over 200 loci providing insight into the genetic etiology of ocular diseases	27
APOL1 risk variants affect podocyte lipid homeostasis and energy production in focal segmental glomerulosclerosis	27
Mitochondrial oxidative stress contributes to the pathological aggregation and accumulation of tau oligomers in Alzheimer’s disease	26
The Tudor-domain protein TDRD7, mutated in congenital cataract, controls the heat shock protein HSPB1 (HSP27) and lens fiber cell morphology	26
Loss of DRC1 function leads to multiple morphological abnormalities of the sperm flagella and male infertility in human and mouse	26
Multiomics analyses reveal early metabolic imbalance and mitochondrial stress in neonatal photoreceptors leading to cell death in Pde6brd1/rd1 mouse model of retinal degeneration	26
Population-specific reference panels are crucial for genetic analyses: an example of the CREBRF locus in Native Hawaiians	26
Choroidal endothelial and macrophage gene expression in atrophic and neovascular macular degeneration	26
Functional rescue in an Angelman syndrome model following treatment with lentivector transduced hematopoietic stem cells	25
Recent advances in Wilms’ tumor predisposition	25
Functional annotation of genomic variation: DNA methylation episignatures in neurodevelopmental Mendelian disorders	24
Skeletal muscle regeneration in facioscapulohumeral muscular dystrophy is correlated with pathological severity	24
Multi-influential genetic interactions alter behaviour and cognition through six main biological cascades in Down syndrome mouse models	24
Integrative analyses of scRNA-seq and scATAC-seq reveal CXCL14 as a key regulator of lymph node metastasis in breast cancer	24
Dysregulated mitochondrial and cytosolic tRNA m1A methylation in Alzheimer’s disease	23
Pre-natal manifestation of systemic developmental abnormalities in spinal muscular atrophy	23
High-fat diet–induced activation of SGK1 promotes Alzheimer’s disease–associated tau pathology	23
Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs	23
Aggregating multiple expression prediction models improves the power of transcriptome-wide association studies	23
Genetic risk factors of ME/CFS: a critical review	23
Evolutionary genetics of skin pigmentation in African populations	22
Single-cell ATAC-Seq reveals cell type-specific transcriptional regulation and unique chromatin accessibility in human spermatogenesis	22
Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy	22
Shared genetic liability and causal effects between major depressive disorder and insomnia	22
Three decades of ASD genetics: building a foundation for neurobiological understanding and treatment	22
Impaired cooperation between IFT74/BBS22–IFT81 and IFT25–IFT27/BBS19 causes Bardet-Biedl syndrome	22
A partial reduction of Drp1 improves cognitive behavior and enhances mitophagy, autophagy and dendritic spines in a transgenic Tau mouse model of Alzheimer disease	21
Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53	21
Altered bone development with impaired cartilage formation precedes neuromuscular symptoms in spinal muscular atrophy	21
Genetic modeling of GNAO1 disorder delineates mechanisms of Gαo dysfunction	21
Identification of LRRK2 missense variants in the accelerating medicines partnership Parkinson’s disease cohort	21

Prenatal inflammation as a link between placental expression signature of tryptophan metabolism and preterm birth	21
Homeostatic p62 levels and inclusion body formation in CHCHD2 knockout mice	21
Gene expression profiles complement the analysis of genomic modifiers of the clinical onset of Huntington disease	20
Bantu-speaker migration and admixture in southern Africa	20
Allele-specific variation atAPOEincreases nonalcoholic fatty liver disease and obesity but decreases risk of Alzheimer’s disease and myocardial infarction	20
Loss-of-function missense variant ofAKAP4induced male infertility through reduced interaction with QRICH2 during sperm flagella development	20
RNA-Seq profiling of leukocytes reveals a sex-dependent global circular RNA upregulation in multiple sclerosis and 6 candidate biomarkers	20
Genetic stratification of inherited and sporadic phaeochromocytoma and paraganglioma: implications for precision medicine	20
Fine-scale population structure in the UK Biobank: implications for genome-wide association studies	20
Non-canonical initiation factors modulate repeat-associated non-AUG translation	19
Novel mutations in the WFS1 gene are associated with Wolfram syndrome and systemic inflammation	19
CFAP65 is required in the acrosome biogenesis and mitochondrial sheath assembly during spermiogenesis	19
The amino acid transporter Slc7a5 regulates the mTOR pathway and is required for granule cell development	19
Skewed allelic expression on X chromosome associated with aberrant expression of XIST on systemic lupus erythematosus lymphocytes	19
Whole exome sequencing of known eye genes reveals genetic causes for high myopia	19
Germline predisposition to hematopoietic malignancies	19
Phenotypic recapitulation and correction of desmoglein-2-deficient cardiomyopathy using human-induced pluripotent stem cell-derived cardiomyocytes	19
Molecular basis of ciliary defects caused by compound heterozygous IFT144/WDR19 mutations found in cranioectodermal dysplasia	19
Ethnic, gender and other sociodemographic biases in genome-wide association studies for the most burdensome non-communicable diseases: 2005–2022	19
Transethnic analysis of the human leukocyte antigen region for ulcerative colitis reveals not only shared but also ethnicity-specific disease associations	18
Abundance and localization of human UBE3A protein isoforms	18
Altered Capicua expression drives regional Purkinje neuron vulnerability through ion channel gene dysregulation in spinocerebellar ataxia type 1	18
Interaction of huntingtin with PRMTs and its subsequent arginine methylation affects HTT solubility, phase transition behavior and neuronal toxicity	18
Human photoreceptor cells from different macular subregions have distinct transcriptional profiles	18
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	18
Serum biomarkers associated with baseline clinical severity in young steroid-naïve Duchenne muscular dystrophy boys	18
Fine-mapping of Parkinson’s disease susceptibility loci identifies putative causal variants	18
Mitochondrial DNA disorders: from pathogenic variants to preventing transmission	18
A novel somatic mutation inGNB2provides new insights to the pathogenesis of Sturge–Weber syndrome	18
Effect of salbutamol on neuromuscular junction function and structure in a mouse model of DOK7 congenital myasthenia	18
Assembly of the [4Fe–4S] cluster of NFU1 requires the coordinated donation of two [2Fe–2S] clusters from the scaffold proteins, ISCU2 and ISCA1	18
Anthropological genetics perspectives on the transatlantic slave trade	18
Coenzyme Q10 modulates sulfide metabolism and links the mitochondrial respiratory chain to pathways associated to one carbon metabolism	18
Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function	17
A Neurexin2aa deficiency results in axon pathfinding defects and increased anxiety in zebrafish	17
Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness	17
Exosomal transfer of activated neutrophil-derived lncRNA CRNDE promotes proliferation and migration of airway smooth muscle cells in asthma	17
Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features	17
Integration of genetically regulated gene expression and pharmacological library provides therapeutic drug candidates	17
RPGR isoform imbalance causes ciliary defects due to exon ORF15 mutations in X-linked retinitis pigmentosa (XLRP)	17
The alternative initiation factor eIF2A plays key role in RAN translation of myotonic dystrophy type 2 CCUG•CAGG repeats	17
Pharmacological read-through of R294X Mecp2 in a novel mouse model of Rett syndrome	17
Erbb4 regulates the oocyte microenvironment during folliculogenesis	17
Huntington’s disease: nearly four decades of human molecular genetics	17
The Y chromosome and its impact on health and disease	17
From APC to the genetics of hereditary and familial colon cancer syndromes	17
Identification of causal metabolites related to multiple autoimmune diseases	16
ALS/FTD-causing mutation in cyclin F causes the dysregulation of SFPQ	16
Disruption of foxc1 genes in zebrafish results in dosage-dependent phenotypes overlapping Axenfeld-Rieger syndrome	16
Transcriptional downregulation of FAM3C/ILEI in the Alzheimer’s brain	16
The deep population history in Africa	16
RTL1/PEG11 imprinted in human and mouse brain mediates anxiety-like and social behaviors and regulates neuronal excitability in the locus coeruleus	16
A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency	16
NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity	16
Ryanodine receptor remodeling in cardiomyopathy and muscular dystrophy caused by lamin A/C gene mutation	16
Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations	16
Cytoplasmic TDP-43 is involved in cell fate during stress recovery	16
Genomic characterization of the adolescent idiopathic scoliosis-associated transcriptome and regulome	15
Disulfide bond formation in microtubule-associated tau protein promotes tau accumulation and toxicity in vivo	15
Fto-modulated lipid niche regulates adult neurogenesis through modulating adenosine metabolism	15
O-GlcNAc transferase Ogt regulates embryonic neuronal development through modulating Wnt/β-catenin signaling	15
Whole exome sequencing in patients with Williams–Beuren syndrome followed by disease modeling in mice points to four novel pathways that may modify stenosis risk	15
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice	15
ZNF224 is a mediator of TGF-β pro-oncogenic function in melanoma	15
Implicit bias of encoded variables: frameworks for addressing structured bias in EHR–GWAS data	15
Systemic antisense therapeutics inhibiting DUX4 expression ameliorates FSHD-like pathology in an FSHD mouse model	15
When is an obscurin variant pathogenic? The impact of Arg4344Gln and Arg4444Trp variants on protein–protein interactions and protein stability	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
Renal pathology in a mouse model of severe Spinal Muscular Atrophy is associated with downregulation of Glial Cell-Line Derived Neurotrophic Factor (GDNF)	15
A plasma metabolomic signature of Leber hereditary optic neuropathy showing taurine and nicotinamide deficiencies	15
Genome editing strategies for fetal hemoglobin induction in beta-hemoglobinopathies	15
Cellular and behavioral effects of altered NaV1.2 sodium channel ion permeability in Scn2a K1422E mice	15
Genome-wide polygenic risk score for retinopathy of type 2 diabetes	15
Transcriptome of HPβCD-treated Niemann-Pick disease type C1 cells highlights GPNMB as a biomarker for therapeutics	15
Motor neuron translatome reveals deregulation of SYNGR4 and PLEKHB1 in mutant TDP-43 amyotrophic lateral sclerosis models	15
A molecular map of long non-coding RNA expression, isoform switching and alternative splicing in osteoarthritis	15
PICALM rescues glutamatergic neurotransmission, behavioural function and survival in a Drosophila model of Aβ42 toxicity	14
Ubiquilin-2 differentially regulates polyglutamine disease proteins	14
LRP2 controls sonic hedgehog-dependent differentiation of cardiac progenitor cells during outflow tract formation	14
X-factors in human disease: impact of gene content and dosage regulation	14

PAK1 inhibition reduces tumor size and extends the lifespan of mice in a genetically engineered mouse model of Neurofibromatosis Type 2 (NF2)	14
Genetic architecture of microRNA expression and its link to complex diseases in the Japanese population	14
Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits	14
Transverse endoplasmic reticulum expansion in hereditary spastic paraplegia corticospinal axons	14
Multi-omics analysis to identify susceptibility genes for colorectal cancer	14
The rareC9P167S risk variant for age-related macular degeneration increases polymerization of the terminal component of the complement cascade	14
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs	14
Constitutive nuclear accumulation of endogenous alpha-synuclein in mice causes motor impairment and cortical dysfunction, independent of protein aggregation	14
PTEN hamartoma tumour syndrome: what happens when there is no PTEN germline mutation?	14
Genes influenced by MEF2C contribute to neurodevelopmental disease via gene expression changes that affect multiple types of cortical excitatory neurons	14
Sexual dimorphism in cancer: insights from transcriptional signatures in kidney tissue and renal cell carcinoma	14
CRISPR gene editing in pluripotent stem cells reveals the function of MBNL proteins during human in vitro myogenesis	14
Snord116 Post-transcriptionally Increases Nhlh2 mRNA Stability: Implications for Human Prader-Willi Syndrome	14
A global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intolerance	14
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating	14
Microtubule-associated protein 1B dysregulates microtubule dynamics and neuronal mitochondrial transport in spinal muscular atrophy	14
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	14
Blood copper and risk of cardiometabolic diseases: a Mendelian randomization study	13
Identifying oligodendrocyte enhancers governing Plp1 expression	13
Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutations	13
Increased nuclear but not cytoplasmic activities of CELF1 protein leads to muscle wasting	13
Loss of epigenetic polarity is a hallmark of hematopoietic stem cell aging	13
Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations	13
Emerging functions of Fanconi anemia genes in replication fork protection pathways	13
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease	13
Novel frameshift mutation in STK33 is associated with asthenozoospermia and multiple morphological abnormalities of the flagella	13
Androgen receptor variants: RNA-based mechanisms and therapeutic targets	13
Pathogenic alleles in microtubule, secretory granule and extracellular matrix-related genes in familial keratoconus	13
Heritability and family-based GWAS analyses of the N-acyl ethanolamine and ceramide plasma lipidome	13
Rheumatoid arthritis and osteoporosis: shared genetic effect, pleiotropy and causality	13
Discovery and fine-mapping of kidney function loci in first genome-wide association study in Africans	13
Impaired neuronal activity and differential gene expression in STXBP1 encephalopathy patient iPSC-derived GABAergic neurons	13
Specific ZNF274 binding interference atSNORD116activates the maternal transcripts in Prader-Willi syndrome neurons	13
Genome-wide association studies identify two novel loci conferring susceptibility to diabetic retinopathy in Japanese patients with type 2 diabetes	13
Protective effects of a small molecule inhibitor ligand against hyperphosphorylated tau-induced mitochondrial and synaptic toxicities in Alzheimer disease	13
Temporal dissection of Rai1 function reveals brain-derived neurotrophic factor as a potential therapeutic target for Smith–Magenis syndrome	13
Photoreceptor cilia, in contrast to primary cilia, grant entry to a partially assembled BBSome	13
Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter	12
Elongin C (ELOC/TCEB1)-associated von Hippel–Lindau disease	12
Genome-wide gene–diet interaction analysis in the UK Biobank identifies novel effects on hemoglobin A1c	12
Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility	12
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	12
Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease	12
Brain cell type-specific endocytosis of arylsulfatase A identifies limitations of enzyme-based therapies for metachromatic leukodystrophy	12
Loss ofAnks6leads to YAP deficiency and liver abnormalities	12
Loss of ten-eleven translocation 2 induces cardiac hypertrophy and fibrosis through modulating ERK signaling pathway	12
De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality	12
Identification of the GlialCAM interactome: the G protein-coupled receptors GPRC5B and GPR37L1 modulate megalencephalic leukoencephalopathy proteins	12
Understanding human gut diseases at single-cell resolution	12
mTOR inhibitors reduce enteropathy, intestinal bleeding and colectomy rate in patients with juvenile polyposis of infancy with PTEN-BMPR1A deletion	12
NSD1 mutations deregulate transcription and DNA methylation of bivalent developmental genes in Sotos syndrome	12
Nanopore direct RNA sequencing detects DUX4-activated repeats and isoforms in human muscle cells	12
Exome sequencing revealed PDE11A as a novel candidate gene for early-onset Alzheimer’s disease	12
Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia	12
A Mendelian randomization study to assess the genetic liability of gastroesophageal reflux disease for cardiovascular diseases and risk factors	12
Influence of PRKCE non-synonymous variants on protein dynamics and functionality	12
Increasing LRP4 diminishes neuromuscular deficits in a mouse model of Duchenne muscular dystrophy	12
Ap2s1 mutation causes hypercalcaemia in mice and impairs interaction between calcium-sensing receptor and adaptor protein-2	12
Nesprin-1 LINC complexes recruit microtubule cytoskeleton proteins and drive pathology in Lmna-mutant striated muscle	12
De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus	12
Genetic and in utero environmental contributions to DNA methylation variation in placenta	12
Polygenic risk scores for prediction of breast cancer risk in women of African ancestry: a cross-ancestry approach	11
Acute and chronic tirasemtiv treatment improves in vivo and in vitro muscle performance in actin-based nemaline myopathy mice	11
Dimethyl fumarate dose-dependently increases mitochondrial gene expression and function in muscle and brain of Friedreich’s ataxia model mice	11
The Jun-dependent axon regeneration gene program: Jun promotes regeneration over plasticity	11
Dorsal telencephalon-specific Nprl2- and Nprl3-knockout mice: novel mouse models for GATORopathy	11
Limited time window for retinal gene therapy in a preclinical model of ciliopathy	11
Development and validation of prognostic and diagnostic model for pancreatic ductal adenocarcinoma based on scRNA-seq and bulk-seq datasets	11
Ambroxol reverses tau and α-synuclein accumulation in a cholinergic N370S GBA1 mutation model	11
Genome-wide association study of cardiac troponin I in the general population	11
Accelerated loss of hypoxia response in zebrafish with familial Alzheimer’s disease-like mutation of presenilin 1	11
Dementia with Lewy bodies—associated ß-synuclein mutations V70M and P123H cause mutation-specific neuropathological lesions	11
NCOA3identified as a new candidate to explain autosomal dominant progressive hearing loss	11
Rare complement factor I variants associated with reduced macular thickness and age-related macular degeneration in the UK Biobank	11
Metformin induces lactate accumulation and accelerates renal cyst progression in Pkd1-deficient mice	11
A mouse model of BBS identifies developmental and homeostatic effects of BBS5 mutation and identifies novel pituitary abnormalities	11
Lysosomal ceramides regulate cathepsin B-mediated processing of saposin C and glucocerebrosidase activity	11
Calcium is reduced in presynaptic mitochondria of motor nerve terminals during neurotransmission in SMA mice	11
DARS2 is indispensable for Purkinje cell survival and protects against cerebellar ataxia	11
A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome	11
Rare deleterious BUB1B variants induce premature ovarian insufficiency and early menopause	11
Loss of Snord116 alters cortical neuronal activity in mice: a preclinical investigation of Prader–Willi syndrome	11
Conserved UBE3A subcellular distribution between human and mice is facilitated by non-homologous isoforms	11
Nurr1 repression mediates cardinal features of Parkinson’s disease in α-synuclein transgenic mice	11
TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci	11
ADAM10 hyperactivation acts on piccolo to deplete synaptic vesicle stores in Huntington’s disease	11
Human adaptation, demography and cattle domestication: an overview of the complexity of lactase persistence in Africa	11
SWI/SNF inactivation in the endometrial epithelium leads to loss of epithelial integrity	11
Investigation of the causal relationships between human IgG N-glycosylation and 12 common diseases associated with changes in the IgG N-glycome	11
OUP accepted manuscript	11
Genetic risk factors and COVID-19 severity in Brazil: results from BRACOVID study	11
Stress modulates Ahi1-dependent nuclear localization of ten-eleven translocation protein 2	11
MCU-complex-mediated mitochondrial calcium signaling is impaired in Barth syndrome	11
Ceramide contributes to pathogenesis and may be targeted for therapy in VCP inclusion body myopathy	10
Functional genomics in autoimmune diseases	10