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A de novo deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counseling doi.org/10.1093/hmg/dd…

Letter to the Editor: SCA10 expansions occur in the Brazilian general population, but rearrangement happens between expansion and rs41524547 doi.org/10.1093/hmg/dd…

New Human Molecular Genetics Issue: JUNE 1 2025 academic.oup.com/hmg/issue/34/11 COVER: Modeling bone marrow microenvironment and hematopoietic dysregulation in Gaucher disease through VavCre mediated Gba deletion doi.org/10.1093/hmg/dd…

New insights into tumor microenvironment and #HPV integrations in cervical cancer pathogenesis revealed by single-cell transcriptome data doi.org/10.1093/hmg/dd…

🔊 Our colleagues contribute to advancing scientific knowledge on microRNAs and dilated cardiomyopathy 🧬🫀👇🏻 Although it is known that altered microRNA levels play a role in the development of heart failure, the relationship between genetic variants in microRNAs or their

Our colleagues Iria Gómez Díaz, Expert in Genetic Analysis in Cardiology, and Dr. Lorenzo Monserrat, cardiologist and our VP of Knowledge Platform Development, have participated in an international study published in Human Molecular Genetics. The study identified four rare variants in the

Knockdown of TSP-4 alleviates MI/RI-induced myocardial injury and improves brain inflammation by enhancing blood–brain barrier stability doi.org/10.1093/hmg/dd…

Calibrating a functional assay for variant classification in RYR1-related malignant hyperthermia susceptibility doi.org/10.1093/hmg/dd…

Deoxynucleoside supplementation ameliorates the disease associated phenotypes in a zebrafish model of RRM2B mtDNA depletion syndrome doi.org/10.1093/hmg/dd…

Escape from X-chromosome inactivation at KDM5C is driven by promoter-proximal DNA elements and enhanced by domain context doi.org/10.1093/hmg/dd…

Functional analysis of pathogenic variants in LAMB1-related leukoencephalopathy reveals genotype–phenotype correlations and suggests its role in glial cells doi.org/10.1093/hmg/dd…

Whole-exome sequencing identifies 5 novel genes associated with carpal tunnel syndrome doi.org/10.1093/hmg/dd…

Unraveling the genetics of gulf war illness in diverse participants enrolled in the million veteran program doi.org/10.1093/hmg/dd…

Brave new human: counting up the de novo mutations you alone carry razibkhan.com/p/brave-new-hu… The human genome consists of three billion bases, A’s, C’s, G’s and T’s. Of these bases, a large number in any individual vary from those carried by most other humans; around 4.5 million

Neuromuscular junction transcriptome analysis of spinal and bulbar muscular atrophy mice implicates sarcomere gene expression and calcium flux dysregulation in disease pathogenesis doi.org/10.1093/hmg/dd…

Genome-wide association study for lung cancer in 6531 African Americans reveals new susceptibility loci doi.org/10.1093/hmg/dd…

Can we use genetics to make real-world evidence more like randomized trials and improve trial design in the process? In our latest paper, we emulate 4 cardiometabolic RCTs in FinnGen and test how polygenic scores can improve trial emulation rdcu.be/eryti

UNRAVELING CLN7 disease: the distinct roles of two close MFSD8/CLN7 splice variants in phenotypic expression doi.org/10.1093/hmg/dd…

Rare DCM associated variants in pre-miR-208a disrupt miRNA maturation and function doi.org/10.1093/hmg/dd…

Synaptic defects in adult drosophila motor neurons in a model of amyotrophic lateral sclerosis doi.org/10.1093/hmg/dd…