Last Updated: 09/26/2026
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Found 35 publications
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
Timely Diagnosis of Cobalamin C Disease via Rapid Genome Sequencing in a Neonate With Severe Prenatally Detected Biventricular Dysfunction.
Journal: Case reports in critical care
Published: June 22, 2026
Diagnostic Accuracy of Large Language Models for Rare Diseases: A Systematic Review and Meta-Analysis.
Journal: medRxiv : the preprint server for health sciences
Published: April 03, 2026
Diagnostic Odyssey of Atypical Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants.
Journal: American journal of medical genetics. Part A
Published: February 23, 2026
Response of an Infant With Presumed Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation.
Journal: American journal of medical genetics. Part A
Published: January 19, 2026
A statistical framework for evaluating the repeatability and reproducibility of large language models.
Journal: medRxiv : the preprint server for health sciences
Published: November 24, 2025
Decoding Genetic Disease Through the Skin: Lessons From the UDN.
Journal: International journal of dermatology
Published: October 26, 2025
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 13, 2025
RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 13, 2025
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.
Journal: medRxiv : the preprint server for health sciences
Published: September 05, 2025
Large Language Models for Rare Disease Diagnosis at the Undiagnosed Diseases Network.
Journal: JAMA network open
Published: August 22, 2025
Last Updated: 09/26/2026