1-20 of 754
Section: Original Article
Journal Article
Genetic characteristics associated with isolated Microtia revealed through whole exome sequencing of 201 pedigrees Get access
Human Molecular Genetics, ddaf063, https://doi.org/10.1093/hmg/ddaf063
Published: 25 April 2025
Journal Article
Defective IFT57 underlies a novel cause of Bardet-Biedl syndrome
Human Molecular Genetics, ddaf058, https://doi.org/10.1093/hmg/ddaf058
Published: 24 April 2025
Journal Article
Generation of a compound heterozygous ABCA4 rat model with pathological features of STGD1
Human Molecular Genetics, ddaf057, https://doi.org/10.1093/hmg/ddaf057
Published: 24 April 2025
Journal Article
ap4b1−/− zebrafish demonstrate morphological and motor abnormalities Get access
Human Molecular Genetics, ddaf056, https://doi.org/10.1093/hmg/ddaf056
Published: 23 April 2025
Journal Article
Linking DNA methylation in brain regions to Alzheimer’s disease risk: a Mendelian randomization study Get access
Human Molecular Genetics, ddaf053, https://doi.org/10.1093/hmg/ddaf053
Published: 23 April 2025
Journal Article
Kinetin mediated mutant huntingtin phosphorylation restores multiple dysregulated pathways in a cell line model of Huntington’s disease Get access
Human Molecular Genetics, ddaf052, https://doi.org/10.1093/hmg/ddaf052
Published: 23 April 2025
Journal Article
The nuclear export signal mediates mutant atrophin-1-induced neuropathology in a mouse model of DRPLA Get access
Human Molecular Genetics, ddaf048, https://doi.org/10.1093/hmg/ddaf048
Published: 23 April 2025
Journal Article
Fetal growth disorders detection during first trimester gestation through comprehensive maternal circulating DNA profiling Get access
Human Molecular Genetics, ddaf055, https://doi.org/10.1093/hmg/ddaf055
Published: 23 April 2025
Journal Article
Mitochondrial dysfunction is driven by imbalanced fission and fusion of mitochondria in myofibrillar myopathy type 5 Get access
Human Molecular Genetics, ddaf051, https://doi.org/10.1093/hmg/ddaf051
Published: 17 April 2025
Journal Article
Functional analysis of pathogenic variants in LAMB1-related leukoencephalopathy reveals genotype–phenotype correlations and suggests its role in glial cells Get access
Human Molecular Genetics, ddaf050, https://doi.org/10.1093/hmg/ddaf050
Published: 16 April 2025
Journal Article
Localization of human UBE3A isoform 3 is highly sensitive to amino acid substitutions at p.Met21 position
Human Molecular Genetics, ddaf044, https://doi.org/10.1093/hmg/ddaf044
Published: 11 April 2025
Journal Article
Deoxynucleoside supplementation ameliorates the disease associated phenotypes in a zebrafish model of RRM2B mtDNA depletion syndrome
Human Molecular Genetics, ddaf047, https://doi.org/10.1093/hmg/ddaf047
Published: 11 April 2025
Journal Article
Escape from X-chromosome inactivation at KDM5C is driven by promoter-proximal DNA elements and enhanced by domain context
Human Molecular Genetics, ddaf049, https://doi.org/10.1093/hmg/ddaf049
Published: 11 April 2025
Journal Article
Modeling bone marrow microenvironment and hematopoietic dysregulation in Gaucher disease through VavCre mediated Gba deletion
Human Molecular Genetics, ddaf045, https://doi.org/10.1093/hmg/ddaf045
Published: 08 April 2025
Journal Article
Calibrating a functional assay for variant classification in RYR1-related malignant hyperthermia susceptibility Get access
Human Molecular Genetics, ddaf038, https://doi.org/10.1093/hmg/ddaf038
Published: 07 April 2025
Journal Article
CRISPR-Cas9-driven antigen conversion of clinically relevant blood group systems
Human Molecular Genetics, ddaf040, https://doi.org/10.1093/hmg/ddaf040
Published: 02 April 2025
Journal Article
Knockdown of TSP-4 alleviates MI/RI-induced myocardial injury and improves brain inflammation by enhancing blood–brain barrier stability Get access
Human Molecular Genetics, ddaf037, https://doi.org/10.1093/hmg/ddaf037
Published: 29 March 2025
Journal Article
The role of CSNK1A1 and its de novo mutations in infantile spasms syndrome
Human Molecular Genetics, ddaf030, https://doi.org/10.1093/hmg/ddaf030
Published: 28 March 2025
Journal Article
New insights into tumor microenvironment and HPV integrations in cervical cancer pathogenesis revealed by single-cell transcriptome data Get access
Human Molecular Genetics, ddaf027, https://doi.org/10.1093/hmg/ddaf027
Published: 27 March 2025
Journal Article
A de novo deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counseling
Human Molecular Genetics, ddaf035, https://doi.org/10.1093/hmg/ddaf035
Published: 17 March 2025
