Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 282 publications
Clinical, cellular, and genomic consequences of a population-enriched SETD1A missense variant.
Journal: Research square
Published: July 29, 2026
Clinical, cellular, and genomic consequences of a population-enriched SETD1A missense variant.
Journal: Research square
Published: July 29, 2026
Type 2 diabetes genetics in 125,000 admixed adults from Mexico City.
Journal: medRxiv : the preprint server for health sciences
Published: July 03, 2026
Implementation of exome sequencing for rare undiagnosed diseases in LMICs: the G2MC rare diseases exome sequencing pilot project.
Journal: Human genetics
Published: November 03, 2025
Analysis of 173,303 exomes and genomes in the Pakistan Genome Resource.
Journal: Nature
Published: July 31, 2025
Medically actionable DNA variants have a prevalence of 5 % in the Cyprus genetic landscape.
Journal: Genomics
Published: July 07, 2025
Alzheimer's disease-like brain pattern biomarker: capturing risks and predicting disease onset.
Journal: Molecular psychiatry
Published: May 28, 2025
Genetic ancestry and monogenic disease risk in the Scottish Traveller founder population.
Journal: Nature communications
Published: May 16, 2025
Exonic Variation and Its Clinical Impact in 7221 Old Order Amish.
Journal: American journal of medical genetics. Part A
Published: April 27, 2025
A rare variant in GPR156 associated with depression in a Mennonite pedigree causes habenula hyperactivity and stress sensitivity in mice.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: April 14, 2025
Last Updated: 09/26/2026