🧬 New from Liskova et al! 📄 The AP5B1 p.(Leu785Pro) variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations 👉 bit.ly/4g0ueij

🧬 New from @fabiomorganz.bsky.social & co! 📄 Gene-environment interactions contribute to blood pressure variation across global populations 👉 bit.ly/4c74Gil

🧬New from Tu & Ochoa! 📄Genetic association meta-analysis is susceptible to confounding by between-study cryptic relatedness 👉 bit.ly/3S0jPLF

🧬 New from Herrick et al! 📄 Leveraging the genetics of human face shape boosts the discovery of orofacial cleft risk loci 👉 bit.ly/4wiprQs

🧬 New from Prodanov et al! 📄 Aggregate variant calling using short reads enables population and disease studies for paralogous genes 👉 bit.ly/3Rvom8u

🧬New from @poseypod.bsky.social & co! 📄Expanding the Clinical and Molecular Spectrum of TUBB2B Through Distinct Variants Identified Across Multiple Families 👉 bit.ly/4wLFW7g

🧬New from Moyses-Oliveira et al! 📄 #CRISPR -engineered deletion of POGZ alters transcription factor binding at promoters of genes involved in synaptic signaling 👉 bit.ly/4gFnit8

🧬New from @j-marquez.bsky.social & co! 📄ALG14 Variants Contribute to a Congenital Disorder of Glycosylation Characterized by Congenital Myasthenia and Epilepsy 👉 bit.ly/4aXaP05

🧬New from @girlscientist.bsky.social & co! 📄Psychometric Validation of the Education and Assessment of Genetic Literacy or EAGL Measure 👉 bit.ly/459bvvS

Our July issue is online! Catch up with the latest human #genetics & #genomics research www.cell.com/hgg-advances...

🧬New from Tutulan-Cunita & co! 📄 Interplay between genomic architecture alterations and GDF6 regulation: a candidate mechanism in Nablus mask-like facial syndrome 👉 bit.ly/4v3jV2C

🧬New from Chinaka et al! 📄Multi-ancestry genome-wide association meta-analysis of hepatocellular #carcinoma identifies eight risk loci including MAP3K9, DHRS1, MTTP, and 8q24.21 👉 bit.ly/4gMd36b

🧬New from Cao et al! 📄A Pseudotime-Dependent TWAS Framework Identifies Disease Genes along Cell Developmental Paths 👉 bit.ly/44mvMy1

🧬New from Oja et al! 📄Expanding the ABCA2-associated neurodevelopmental phenotype 👉 bit.ly/3QFXzWR

🧬New from @cpschaaf.bsky.social & co! 📄Clustered monoallelic mosaicism in twins suggests previously unrecognized path of mutagenesis 👉 bit.ly/4xM3haj

🧬New from Fellay & colleagues! 📄 #GWAS of untargeted plasma metabolomic profiles identifies host genetic regulation in people with #HIV 👉 bit.ly/4oBiuXC

🧬New from Karppinen et al! 📄Genetic architecture of 67 oral diseases and their links to systemic diseases 👉 bit.ly/4uJ1qQV

🧬New from Ramkhalawan et al! 📄Integrated Transcriptomic and Functional Analysis Reveals Tissue-Specific Molecular Pathology in Adolescent Idiopathic Scoliosis 👉 bit.ly/4vyPjqj

🧬New from Chen et al! 📄Functional genomic analysis reveals HAVCR1 as the key regulator of 5q33.3 locus linked to hyperlipidemia 👉 bit.ly/4veBTzH

🧬New from Touissi & Vallender! 📄Positive selection on brain cis-regulatory elements in the human lineage drives gene expression divergence and susceptibility to neuropsychiatric disorders 👉 bit.ly/3RRU6o6

🧬New from Mansoorshahi et al! 📄Rare Type 1 Collagen Variants in Early-Onset Bicuspid Aortic Valve Disease: Clinical and Genetic Overlap with Ehlers-Danlos Syndrome and Osteogenesis Imperfecta 👉 bit.ly/4f1PlSN

🧬New from Ockerman et al! 📄An Efficient Lasso Framework for Admixture-Aware Polygenic Scores 🖥️ github.com/frankp-0/HAUDI 👉 bit.ly/4tNHNql

🧬 New from Nkrumah et al! 📄Burden of heterozygote carriers for autosomal recessive conditions in the Middle East: A study of 14,392 genomes 👉 bit.ly/4dthFuQ

🧬New from Jain et al! 📄Layers in the sand: The genetic imprint of migration, culture, and Indus craft in the Thar desert 👉 bit.ly/4ePUflN

🧬Online now! 📄Genome Sequencing for the Diagnosis of Rare Disorders: The Brazilian Rare Genomes Project 👉 bit.ly/4thVcqc

🧬New from Houge & colleagues! 📄Biallelic loss-of-function variants in DSCAM cause a neurodevelopmental syndrome with nystagmus and retinal dysfunction 👉 tinyurl.com/37r4d8t8

🧬 New from Jiang et al! 📄Functional and Computational Interrogation of the Juvenile Idiopathic #Arthritis Risk Loci Identifies Candidate Risk-Driving SNPs and Target Genes in CD4+ T Cells 👉 tinyurl.com/5xbbmfbz

🧬 New from Zafar et al! 📄Molecular dynamics simulations of intrinsically disordered protein regions enable biophysical interpretation of variant effect predictors 👉 tinyurl.com/e6mxtyfz

🐭New from Grover et al! 📄Genetic activation of ERK2 recapitulates core neurodevelopmental features of Rasopathy syndromes in mice 👉 tinyurl.com/3zdbhvsd

🧬New from Werren et al! 📄 Diagnostic utility of clinical genome reanalysis in rare pediatric disorders using long-read sequencing 👉 tinyurl.com/2pm5uukx