Retention of stress susceptibility in the mdx mouse model of Duchenne muscular dystrophy after PGC-1α overexpression or ablation of IDO1 or CD38
doi.org/10.1093/hmg/dd…

Construction of a prognostic model for breast cancer based on moonlighting genes
doi.org/10.1093/hmg/dd…

Comprehensive phenotypic characterization of an allelic series of zebrafish models of NEB-related nemaline myopathy
doi.org/10.1093/hmg/dd…

A loss of function mutation in CLDN25 causing Pelizaeus-Merzbacher-like leukodystrophy
doi.org/10.1093/hmg/dd…

Plasticity and structural alterations of mitochondria and sarcoplasmic organelles in muscles of mice deficient in α-dystrobrevin, a component of the dystrophin-glycoprotein complex
doi.org/10.1093/hmg/dd…

A multi-ancestry genome-wide association study in type 1 diabetes
doi.org/10.1093/hmg/dd…

Real-world evidence: Risdiplam in a patient with spinal muscular atrophy type I with a novel splicing mutation and one SMN2 copy
doi.org/10.1093/hmg/dd…

PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice
doi.org/10.1093/hmg/dd…

The genetic admixture and assimilation of Ahom: a historic migrant from Thailand to India
doi.org/10.1093/hmg/dd…

Congrats to Rob Bryson-Richardson & colleagues for their new Human Molecular Genetics paper: Mitochondrial abnormalities contribute to muscle weakness in a Dnajb6 deficient zebrafish model. tinyurl.com/y3fc7ev2

Study of prognostic splicing factors in cancer using machine learning approaches
doi.org/10.1093/hmg/dd…

Melanoma-associated fibroblasts in tumor-promotion flammation and antitumor immunity: novel mechanisms and potential immunotherapeutic strategies
doi.org/10.1093/hmg/dd…

Functional analysis of cell lines derived from SMAD3-related Loeys-Dietz syndrome patients provides insights into genotype-phenotype relation
doi.org/10.1093/hmg/dd…

Base editing correction of OCRL in Lowe syndrome: ABE-mediated functional rescue in patient-derived fibroblasts
doi.org/10.1093/hmg/dd…

Out today a beautiful study from Brittany Karas and Kristin Terez on pomt1 zebrafish KOs and why moms matter in Human Molecular Genetics 👇
academic.oup.com/hmg/article/33…

Functional characterization of archaic-specific variants in mitonuclear genes: insights from comparative analysis in S. cerevisiae
doi.org/10.1093/hmg/dd…

Construction of a prognostic model for lung adenocarcinoma based on m6A/m5C/m1A genes #LUAD
doi.org/10.1093/hmg/dd…

Co-methylation analyses identify CpGs associated with lipid traits in Chinese discordant monozygotic twins
doi.org/10.1093/hmg/dd…

SUMMIT-FA: a new resource for improved transcriptome imputation using functional annotations #TWAS #eQTL
doi.org/10.1093/hmg/dd…