Enhanced muscle uptake of chemically optimized miR-23b antisense oligonucleotides as lead compounds for myotonic dystrophy type 1 We address the lack of optimized antimiRs to upregulate MBNL1 in myotonic dystrophy. Through in vitro and in vivo screening and oleic acid conjugation, we identify antimiR leads that boost MBNL1, corr...

New #AJHG paper: Enhanced muscle uptake of chemically optimized miR-23b antisense oligonucleotides as lead compounds for myotonic dystrophy type 1. #Myoblue tinyurl.com/3f64wpdt

SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions Two different 4-base-pair deletions in SMN1 that cause a similar frameshift led to false-positive SMA newborn screening results. Integrating genomic, functional, and population data clarified diagnosi...

New #AJHG paper: SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions. #Myoblue tinyurl.com/2ak3suf4

Huge thanks to co-first author Kevin Currin, my PIs @klmohlke.bsky.social & Terry Furey and the entire team!

This dataset is now a public resource for anyone studying liver biology and complex traits. #Genetics #QTL #Liver #Multiome #AJHG

Integrative approach reveals promising candidates for AD risk factors or targets for treatments A study published in the American Journal of Human Genetics by researchers at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research...

Dr. J Botas, M Stephens et al applied an integrative approach that revealed promising candidates for #AlzheimerDisease #risk factors or targets for treatments
@bcmhouston.bsky.social @cellpress.bsky.social #AJHG #TCHResearchNews #MTCH2 @bcmgenetics.bsky.social www.bcm.edu/news/integra...

AI accelerates discovery of neurodevelopmental disorder-associated genes Researchers have developed an artificial intelligence (AI) approach that accelerates the identification of genes that contribute to neurodevelopmental...

#AI approach accelerates the identification of #genes contributing to neurodevelopmental conditions such as #autismSpectrumDisorder, #epilepsy & #developmentalDelay. @ryandhindsa.bsky.social awzoghbi et al. #AJHG @bcmhouston.bsky.social @bcmgenetics.bsky.social #DuncanNRI www.bcm.edu/news/ai-acce...

The methylomic landscape of human articular cartilage development contains epigenetic signatures of osteoarthritis risk Emerging evidence supports developmental factors impacting osteoarthritis risk in older age. Here, we quantify the methylome of 72 human fetal knee cartilage samples and identify 24 independent osteoa...

Here it is! The first paper from my lab is out today in #AJHG

In brief, we quantified the changing methylome through a large window of prenatal human articular cartilage development and identified methylation QTLs co-localising with 24 OA risk signals www.cell.com/ajhg/fulltex...

Employing effective recruitment and retention strategies to engage a diverse pediatric population in genomics research Underrepresentation in clinical genomics research limits the generalizability of findings and the benefits of scientific discoveries. We describe the …

Thrilled to share our perspective on recruitment and retention strategies to engage a diverse pediatric populations in genomics research in #AJHG today.

This work highlights the importance of inclusive practices in genomic studies. 🧵

www.sciencedirect.com/science/arti...

Today's #ASHG24 #ASHG2024 awards ceremony honors Profr. Cynthia Morton with the Leadership Award for her contributions to ASHG as Editor in Chief for #AJHG, Past President and past Committee member.

The Early Career award recognizes Loic Yengo from the University of Queensland. Congratulations! 👏🏽