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Search results (443)

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Individuals who deviate from polygenic expectation are enriched for damaging variants in genes linked to rare disease.

Baya NA. et al, (2026), Am J Hum Genet

Meta-analysis across six global biobanks identifies recessive coding associations with complex traits and diseases.

Lassen FH. et al, (2026), Am J Hum Genet

Biologically inspired digital histology for deep phenotyping of placental composition changes across major lesion types.

Walker EC. et al, (2026), Placenta

Genomic analyses implicate hormonal and metabolic dysregulation in polycystic ovary syndrome.

Moolhuijsen LME. et al, (2026), Nat Genet

RAB3GAP2 is a regulator of skeletal muscle endothelial cell proliferation and associated with capillary-to-fiber ratio.

Ström K. et al, (2026), Cell Rep, 45

Individuals whose phenotype deviates from genetic expectation defined by common variation are enriched for rare damaging variants in genes that cause rare disease.

Baya NA. et al, (2025), medRxiv

Biologically Inspired Digital Histology for Deep Phenotyping of Placental Composition Changes Across Major Lesion Types.

Walker EC. et al, (2025)

Combining evidence from human genetic and functional screens to identify pathways altering obesity and fat distribution.

Baya NA. et al, (2025), Am J Hum Genet, 112, 2316 - 2337

Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum.

Venkatesh SS. et al, (2025), Nat Genet, 57, 1107 - 1118

Genome-wide association study meta-analysis provides insights into the etiology of heart failure and its subtypes.

Henry A. et al, (2025), Nat Genet, 57, 815 - 828

Combining evidence from human genetic and functional screens to identify pathways altering obesity and fat distribution.

Baya NA. et al, (2025)

Altered Hormone and Bioactive Lipid Plasma Profile in Rodent Models of Polycystic Ovarian Syndrome Revealed by Targeted Mass Spectrometry

Scott HC. et al, (2025), Journal of Endocrinology and Metabolism, 15, 1 - 14

Genome-wide association analysis provides insights into the molecular etiology of dilated cardiomyopathy.

Zheng SL. et al, (2024), Nat Genet, 56, 2646 - 2658

Altered Hormone and Bioactive Lipid Plasma Profile in Rodent Models of Polycystic Ovarian Syndrome Revealed by Targeted Mass Spectrometry

Scott HC. et al, (2024)

Genome-wide analysis identifies 66 variants underlying anatomical variation in human neuroendocrine structures and reveals links to testosterone

Currant H. et al, (2024)

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