TY  - JOUR
AU  - Cheerie, David
AU  - Lauffer, Marlen C
AU  - Newton, Logan
AU  - Amburgey, Kimberly
AU  - Beijer, Danique
AU  - Haque, Bushra
AU  - Kalish, Brian T
AU  - Meserve, Margaret M
AU  - Oh, Rachel Y
AU  - Pan, Amy Y
AU  - Reuter, Miriam S
AU  - Szego, Michael J
AU  - Szuto, Anna
AU  - Aartsma-Rus, Annemieke
AU  - Axford, Michelle M
AU  - Deshwar, Ashish R
AU  - Dowling, James J
AU  - Marshall, Christian R
AU  - Ivakine, Zhenya
AU  - Synofzik, Matthis
AU  - Yu, Timothy W
AU  - Costain, Gregory
TI  - Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: A retrospective cohort study.
JO  - Genetics in medicine
VL  - 28
IS  - 1
SN  - 1098-3600
CY  - Amsterdam
PB  - Elsevier
M1  - DZNE-2025-01434
SP  - 101597
PY  - 2025
AB  - To estimate the proportion of molecular genetic diagnoses in a real-world, phenotypically heterogeneous patient cohort that are amenable to antisense oligonucleotide (ASO) treatment.We retrospectively applied the N=1 Collaborative's Variant Assessments toward Eligibility for Antisense Oligonucleotide Treatment guidelines to all diagnostic variants found by clinical genome-wide sequencing at a single pediatric hospital in 532 patients over a 6-year period. Variants were classified as either 'eligible,' 'likely eligible,' 'unlikely eligible,' or 'not eligible' in relation to the different ASO approaches, or 'unable to assess.'In total, 25 unique variants across 26 patients (4.9
KW  - Antisense oligonucleotides (Other)
KW  - Experimental therapy (Other)
KW  - Inborn genetic disease (Other)
KW  - Rare disease (Other)
LB  - PUB:(DE-HGF)16
C6  - pmid:41090344
DO  - DOI:10.1016/j.gim.2025.101597
UR  - https://pub.dzne.de/record/283022
ER  -