All Research Papers Published In HGG advances

New
Research Article
10.1016/j.xhgg.2026.100627

Rare Type 1 Collagen Variants in Early-Onset Bicuspid Aortic Valve Disease: Clinical and Genetic Overlap with Ehlers-Danlos Syndrome and Osteogenesis Imperfecta.

May 18, 2026
HGG advances
Sara Mansoorshahi + 22 more

New
Research Article
10.1016/j.xhgg.2026.100626

Combined skeletal dysplasia and vasculopathy phenotypes associated with in-frame intragenic deletion in PRKACA.

May 18, 2026
HGG advances
K Nicole Weaver + 13 more

New
Research Article
10.1016/j.xhgg.2026.100628

An Efficient Lasso Framework for Admixture-Aware Polygenic Scores.

May 18, 2026
HGG advances
Franklin Ockerman + 24 more

New
Research Article
10.1016/j.xhgg.2026.100625

Burden of heterozygote carriers for autosomal recessive conditions in the Middle East: A study of 14,392 genomes.

May 14, 2026
HGG advances
Esther Nkrumah + 11 more

Research Article
10.1016/j.xhgg.2026.100623

Layers in the sand: The genetic imprint of migration, culture, and Indus craft in the Thar Desert.

May 6, 2026
HGG advances
Rishabh Jain + 6 more

Research Article
10.1016/j.xhgg.2026.100624

Genome Sequencing for the Diagnosis of Rare Disorders: The Brazilian Rare Genomes Project.

May 1, 2026
HGG advances
Brazilian Rare Genomes Project Consortium + 72 more

Research Article
10.1016/j.xhgg.2026.100622

Biallelic loss-of-function variants in DSCAM cause a neurodevelopmental syndrome with nystagmus and retinal dysfunction.

Apr 30, 2026
HGG advances
Sofia Douzgou Houge + 14 more

Research Article
10.1016/j.xhgg.2026.100619

Functional and Computational Interrogation of the Juvenile Idiopathic Arthritis Risk Loci Identifies Candidate Risk-Driving SNPs and Target Genes in CD4+ T Cells.

Apr 28, 2026
HGG advances
Kaiyu Jiang + 16 more

Research Article
10.1016/j.xhgg.2026.100621

Genetic activation of ERK2 recapitulates core neurodevelopmental features of Rasopathy syndromes in mice.

Apr 28, 2026
HGG advances
Kassidy E Grover + 24 more

Research Article
10.1016/j.xhgg.2026.100618

Molecular dynamics simulations of intrinsically disordered protein regions enable biophysical interpretation of variant effect predictors.

Apr 28, 2026
HGG advances
Aziz Zafar + 3 more