| 2024-04-08 |
Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines |
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| 2024-04-08 |
Removal of pomt1 in zebrafish leads to loss of α-dystroglycan glycosylation and dystroglycanopathy phenotypes |
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| 2024-04-08 |
Regional and bilateral MRI and gene signatures in facioscapulohumeral dystrophy: implications for clinical trial design and mechanisms of disease progression |
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| 2024-04-08 |
Novel breast cancer susceptibility loci under linkage peaks identified in African ancestry consortia |
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| 2024-04-08 |
The role of alternative polyadenylation in epithelial-mesenchymal transition of non-small cell lung cancer |
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| 2024-04-08 |
Podocyte-specific Nup160 knockout mice develop nephrotic syndrome and glomerulosclerosis |
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| 2024-04-08 |
Identifying BMI-associated genes via a genome-wide multi-omics integrative approach using summary data |
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| 2024-04-08 |
Ancestry-specific high-risk gene variant profiling unmasks diabetes-associated genes |
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| 2024-04-08 |
Adaptation of the heart to frataxin depletion: evidence that integrated stress response can predominate over mTORC1 activation |
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| 2023-06-08 |
Correction to: Parkin regulates neuronal lipid homeostasis through SREBP2-lipoprotein lipase pathway—implications for Parkinson's disease |
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| 2023-06-08 |
Correction to: SCN1A: bioinformatically informed revised boundaries for promoter and enhancer regions |
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| 2023-06-08 |
Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways |
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| 2023-06-08 |
Nicotinamide riboside rescues dysregulated glycolysis and fatty acid β-oxidation in a human hepatic cell model of citrin deficiency |
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| 2023-06-08 |
Rare genetic variants underlie outlying levels of DNA methylation and gene-expression |
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| 2023-06-08 |
Potentiation of neuromuscular transmission by a small molecule calcium channel gating modifier improves motor function in a severe spinal muscular atrophy mouse model |
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| 2023-06-08 |
Circulating triglycerides are associated with human adipose tissue DNA methylation of genes linked to metabolic disease |
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| 2023-06-08 |
Acid ceramidase involved in pathogenic cascade leading to accumulation of α-synuclein in iPSC model of GBA1-associated Parkinson’s disease |
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| 2023-06-08 |
Human DUX4 and porcine DUXC activate similar early embryonic programs in pig muscle cells: implications for preclinical models of FSHD |
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| 2023-06-08 |
CEBPB regulates the migration, invasion and EMT of breast cancer cells by inhibiting THBS2 expression and O-fucosylation |
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| 2023-06-08 |
A novel cancer risk prediction score for the natural course of FA patients with biallelic BRCA2/FANCD1 mutations |
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| 2023-06-08 |
Accelerated epigenetic aging and DNA methylation alterations in Berardinelli–Seip congenital lipodystrophy |
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| 2023-06-08 |
Population-based genetic analysis in infertile men reveals novel mutations of ADAD family members in patients with impaired spermatogenesis |
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| 2023-06-08 |
Predicting brain-regional gene regulatory networks from multi-omics for Alzheimer’s disease phenotypes and Covid-19 severity |
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| 2023-06-08 |
Identification of potential causal metabolites associated with atopic dermatitis |
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| 2023-06-08 |
A Caenorhabditis elegans model of autosomal dominant adult-onset neuronal ceroid lipofuscinosis identifies ethosuximide as a potential therapeutic |
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| 2023-06-08 |
Analysis for variable manifestations and molecular characteristics of pyridox(am)ine-5′-phosphate oxidase (PNPO) deficiency |
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| 2023-02-13 |
Correction to: Analysis of CF patient survival confirms STAT3 as a CF-modifying gene with changing impact over time |
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| 2023-02-13 |
FGF20 and PGM2 variants are associated with childhood asthma in family-based whole-genome sequencing studies |
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| 2023-02-13 |
Integration of transcriptome-wide association study with neuronal dysfunction assays provides functional genomics evidence for Parkinson’s disease genes |
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| 2023-02-13 |
Case–case genome-wide association analysis identifying genetic loci with divergent effects on Crohn’s disease and ulcerative colitis |
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| 2023-02-13 |
Blood transcriptomic biomarkers of alcohol consumption and cardiovascular disease risk factors: the Framingham Heart Study |
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| 2023-02-13 |
Tissue- and cell-specific whole-transcriptome meta-analysis from brain and retina reveals differential expression of dystrophin complexes and new dystrophin spliced isoforms |
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| 2023-02-13 |
Site-specific decreases in DNA methylation in replicating cells following exposure to oxidative stress |
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| 2023-02-13 |
Individual-specific levels of CTG•CAG somatic instability are shared across multiple tissues in myotonic dystrophy type 1 |
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| 2023-02-13 |
Non-coding RNAs associated with Prader–Willi syndrome regulate transcription of neurodevelopmental genes in human induced pluripotent stem cells |
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| 2023-02-13 |
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies |
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| 2023-02-13 |
Prdx5 regulates DNA damage response through autophagy-dependent Sirt2-p53 axis |
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| 2023-02-13 |
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria |
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| 2023-02-13 |
Combinatorial treatment with exercise and AICAR potentiates the rescue of myotonic dystrophy type 1 mouse muscles in a sex-specific manner |
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| 2023-02-13 |
Exome sequencing and functional analyses revealed CETN1 variants leads to impaired cell division and male fertility |
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| 2023-02-13 |
Analysis of CF patient survival confirms STAT3 as a CF-modifying gene with changing impact over time |
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| 2022-09-22 |
Correction to: Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly |
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| 2022-09-22 |
RTL1/PEG11 imprinted in human and mouse brain mediates anxiety-like and social behaviors and regulates neuronal excitability in the locus coeruleus |
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| 2022-09-22 |
Mice lacking MBNL1 and MBNL2 exhibit sudden cardiac death and molecular signatures recapitulating myotonic dystrophy |
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| 2022-09-22 |
Evaluation of nanopore sequencing for epigenetic epidemiology: a comparison with DNA methylation microarrays |
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| 2022-09-22 |
Whole-exome sequencing of 14 389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors |
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| 2022-09-22 |
Motor unit recovery following Smn restoration in mouse models of spinal muscular atrophy |
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| 2022-09-22 |
Polygenic risk scores for prediction of breast cancer risk in women of African ancestry: a cross-ancestry approach |
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| 2022-09-22 |
Developmental disruption to the cortical transcriptome and synaptosome in a model of SETD1A loss-of-function |
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| 2022-09-22 |
Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency |
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| 2022-09-22 |
Genetic correction of TRMU allele restored the mitochondrial dysfunction-induced deficiencies in iPSCs-derived hair cells of hearing-impaired patients |
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| 2022-09-22 |
Touchscreen cognitive deficits, hyperexcitability and hyperactivity in males and females using two models of Cdkl5 deficiency |
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| 2022-09-22 |
Integrative multi-omics database (iMOMdb) of Asian pregnant women |
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| 2022-09-22 |
Genetic risk factors and COVID-19 severity in Brazil: results from BRACOVID study |
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| 2022-09-22 |
Novel diabetes gene discovery through comprehensive characterization and integrative analysis of longitudinal gene expression changes |
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| 2022-09-06 |
Correction to: Protein QTL analysis of IGF-I and its binding proteins provides insights into growth biology |
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| 2022-09-06 |
Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases |
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| 2022-09-06 |
A combinatorial approach increases SMN level in SMA model mice |
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| 2022-09-06 |
Cellular and behavioral effects of altered NaV1.2 sodium channel ion permeability in Scn2aK1422E mice |
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| 2022-09-06 |
An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1Y446C/Y446C mutation |
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| 2022-09-06 |
The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder |
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| 2022-09-06 |
Alpha-synucleinopathy reduces NMNAT3 protein levels and neurite formation that can be rescued by targeting the NAD+ pathway |
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| 2022-09-06 |
Phenome-wide screening of the putative causal determinants of depression using genetic data |
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| 2022-09-06 |
Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation |
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| 2022-09-06 |
Genetic architecture of RNA editing regulation in Alzheimer’s disease across diverse ancestral populations |
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| 2022-09-06 |
Caspar, an adapter for VAPB and TER94, modulates the progression of ALS8 by regulating IMD/NFκB-mediated glial inflammation in a Drosophila model of human disease |
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| 2022-09-06 |
Defining novel causal SNPs and linked phenotypes at melanoma-associated loci |
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| 2022-09-06 |
A genome-wide analysis of 340 318 participants identifies four novel loci associated with the age of first spectacle wear |
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| 2021-10-05 |
Happy 30th Birthday, HMG |
Davies K. |
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| 2021-10-05 |
X-factors in human disease: impact of gene content and dosage regulation |
Fang H, Deng X, Disteche C. |
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| 2021-10-05 |
Linking genome variants to disease: scalable approaches to test the functional impact of human mutations |
Findlay G. |
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| 2021-10-05 |
From APC to the genetics of hereditary and familial colon cancer syndromes |
Olkinuora A, Peltomäki P, Aaltonen L, et al. |
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| 2021-10-05 |
The Y chromosome and its impact on health and disease |
Wilson M. |
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| 2021-10-05 |
Three decades of ASD genetics: building a foundation for neurobiological understanding and treatment |
Eyring K, Geschwind D. |
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| 2021-10-05 |
Expanding studies of chromosome structure and function in the era of T2T genomics |
Miga K, Sullivan B. |
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| 2021-10-05 |
Discovery of genomic variation across a generation |
Trost B, Loureiro L, Scherer S. |
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| 2021-10-05 |
The International Human Genome Project |
Birney E. |
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| 2021-10-05 |
Human Molecular Genetics and the long road to treating cystic fibrosis |
Harris A. |
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| 2021-10-05 |
Has translational genomics come of age in Africa? |
Kamp M, Krause A, Ramsay M. |
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| 2021-10-05 |
Mitochondrial DNA disorders: from pathogenic variants to preventing transmission |
Bernardino Gomes T, Ng Y, Pickett S, et al. |
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| 2021-10-05 |
Huntington’s disease: nearly four decades of human molecular genetics |
Gusella J, Lee J, MacDonald M. |
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| 2021-10-05 |
Three decades of genetic privacy: a metaphoric journey |
Knoppers B, Beauvais M. |
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| 2021-10-05 |
Germline predisposition to hematopoietic malignancies |
Feurstein S, Drazer M, Godley L. |
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| 2021-10-05 |
Advances in mouse genetics for the study of human disease |
Brown S. |
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| 2021-09-03 |
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 |
Nakajima K, Ishiwata M, Weitemier A, et al. |
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| 2021-09-03 |
Novel LRRK2 mutations and other rare, non-BAP1-related candidate tumor predisposition gene variants in high-risk cancer families with mesothelioma and other tumors |
Cheung M, Kadariya Y, Sementino E, et al. |
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| 2021-09-03 |
High-altitude pulmonary edema is aggravated by risk loci and associated transcription factors in HIF-prolyl hydroxylases |
Sharma K, Mishra A, Singh H, et al. |
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| 2021-09-03 |
Downregulation of ARID1B, a tumor suppressor in the WNT subgroup medulloblastoma, activates multiple oncogenic signaling pathways |
Deogharkar A, Singh S, Bharambe H, et al. |
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| 2021-09-03 |
Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy |
Botta E, Theil A, Raams A, et al. |
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| 2021-09-03 |
High-fat diet–induced activation of SGK1 promotes Alzheimer’s disease–associated tau pathology |
Elahi M, Motoi Y, Shimonaka S, et al. |
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| 2021-09-03 |
Genome-wide gene–diet interaction analysis in the UK Biobank identifies novel effects on hemoglobin A1c |
Westerman K, Miao J, Chasman D, et al. |
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| 2021-09-03 |
Fragile X premutation rCGG repeats impair synaptic growth and synaptic transmission at Drosophila larval neuromuscular junction |
Bhat S, Yousuf A, Mushtaq Z, et al. |
|
| 2021-08-17 |
Identification of the GlialCAM interactome: the G protein-coupled receptors GPRC5B and GPR37L1 modulate megalencephalic leukoencephalopathy proteins |
Alonso-Gardón M, Elorza-Vidal X, Castellanos A, et al. |
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| 2021-08-17 |
BORCS6 is involved in the enlargement of lung lamellar bodies in Lrrk2 knockout mice |
Araki M, Ito K, Takatori S, et al. |
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| 2021-08-17 |
Small molecule 1a reduces FMRpolyG-mediated toxicity in in vitro and in vivo models for FMR1 premutation |
Haify S, Buijsen R, Verwegen L, et al. |
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| 2021-08-17 |
PAK1 inhibition reduces tumor size and extends the lifespan of mice in a genetically engineered mouse model of Neurofibromatosis Type 2 (NF2) |
Hawley E, Gehlhausen J, Karchugina S, et al. |
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| 2021-08-17 |
Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders |
Reis L, Sorokina E, Dudakova L, et al. |
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| 2021-08-17 |
Increasing LRP4 diminishes neuromuscular deficits in a mouse model of Duchenne muscular dystrophy |
Hui T, Jing H, Zhou T, et al. |
|
| 2021-08-17 |
A cross-tissue transcriptome-wide association study identifies novel susceptibility genes for lung cancer in Chinese populations |
Zhu M, Fan J, Zhang C, et al. |
|
| 2021-08-17 |
RNA kinase CLP1/Cbc regulates meiosis initiation in spermatogenesis |
Wu J, Li X, Gao Z, et al. |
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