Last Updated: 09/26/2026
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Found 11 publications
A novel phenotype-guided genome analysis pipeline for variant discovery.
Journal: NPJ genomic medicine
Published: October 06, 2025
Defective IFT57 underlies a novel cause of Bardet-Biedl syndrome.
Journal: Human molecular genetics
Published: February 25, 2025
Eccrine Spiradenoma of the Lower Back: A Surgical Case Report.
Journal: Cureus
Published: September 30, 2024
Autosomal-dominant macular dystrophy linked to a chromosome 17 tandem duplication.
Journal: JCI insight
Published: December 21, 2023
Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome.
Journal: JCI insight
Published: October 22, 2021
The histone chaperone DAXX maintains the structural organization of heterochromatin domains.
Journal: Epigenetics & chromatin
Published: May 27, 2015
Open and closed domains in the mouse genome are configured as 10-nm chromatin fibres.
Journal: EMBO reports
Published: April 25, 2012
Showing 1-11 of 11
Last Updated: 09/26/2026