Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 96 publications
Precision Antisense Oligonucleotide Therapy Amenability for Infantile Genetic Epilepsies.
Journal: JAMA neurology
Published: May 04, 2026
Postnatal gene restoration in succinic semialdehyde dehydrogenase deficiency (SSADHD) reveals phenotype reversibility.
Journal: bioRxiv : the preprint server for biology
Published: April 03, 2026
Guidance on communication and informed consent with patients and their families for experimental individualized treatments.
Journal: American journal of human genetics
Published: December 19, 2025
Response to the FDA's proposed pathway for individualized genetic therapies.
Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: December 10, 2025
Patient-Oriented Priorities for Pediatric Erythromelalgia: A Priority-Setting Process.
Journal: Children (Basel, Switzerland)
Published: September 25, 2025
Atrophin-1 antisense oligonucleotide provides robust protection from pathology in a fully humanized DRPLA model.
Journal: Molecular therapy. Nucleic acids
Published: August 06, 2025
Paying for precision: funding approaches for N-of-1 trials of individualized gene targeted therapies.
Journal: Orphanet journal of rare diseases
Published: July 01, 2025
Multi-omic analysis of the ciliogenic transcription factor RFX3 reveals a role in promoting activity-dependent responses via enhancing CREB binding in human neurons.
Journal: bioRxiv : the preprint server for biology
Published: March 10, 2025
Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: A retrospective cohort study.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 19, 2025
Last Updated: 09/26/2026