Last Updated: 09/26/2026
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Found 134 publications
Unusual Variants in NDUFAF6-Associated Mitochondrial Disease.
Journal: Rare (Amsterdam, Netherlands)
Published: September 02, 2026
A class of deep intronic IGHMBP2 variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotide.
Journal: medRxiv : the preprint server for health sciences
Published: July 02, 2026
A class of deep intronic IGHMBP2 variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotide.
Journal: medRxiv : the preprint server for health sciences
Published: July 02, 2026
Determinants of haplotype phasing accuracy in long-read human genome sequencing.
Journal: bioRxiv : the preprint server for biology
Published: July 02, 2026
Targeting melanosome pH is an effective method for the treatment of oculocutaneous albinism.
Journal: bioRxiv : the preprint server for biology
Published: June 05, 2026
Benchmarking RNA-seq Tools for Real-World Diagnostic Applications.
Journal: medRxiv : the preprint server for health sciences
Published: February 06, 2026
Improved Identification of Large-effect Rare Genetic Variants using Haplotype Aggregated Allele-specific Expression Data.
Journal: medRxiv : the preprint server for health sciences
Published: December 25, 2025
Haplotype-Based Analysis of OCA2 Variants in Oculocutaneous Albinism.
Journal: Pigment cell & melanoma research
Published: December 04, 2025
Ampyrone (4-Aminoantipyrine) is a Direct Agonist of Human Tyrosinase and Potential Therapeutic for Oculocutaneous Albinism and Disorders of Hypopigmentation.
Journal: bioRxiv : the preprint server for biology
Published: November 24, 2025
Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder.
Journal: Journal of inherited metabolic disease
Published: August 26, 2025
Last Updated: 09/26/2026