Associated Papers
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.
Vos N et al.
Human Genetics, 2024
38787418 (PubMed )
Supplement: 439_2024_2679_MOESM3_ESM.xlsx › S5_Prediction_scores
Long-term longitudinal analysis of 4,187 participants reveals new insights into determinants of incident clonal hematopoiesis.
Uddin MM et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37732181 (PubMed )
Supplement: media-2.xlsx › Table_S3
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder.
Chan AJS et al.
Nature Communications, 2022
36309498 (PubMed )
Supplement: 41467_2022_34112_MOESM4_ESM.xlsx › SupData_17
PHIP variants associated with Chung-Jansen syndrome disrupt replication fork stability and genome integrity.
Tirado-Class N et al.
Cold Spring Harbor Molecular Case Studies, 2022
Select a paper to view details