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
PHIP gene variants with protein modeling, interactions, and clinical phenotypes.
Dietrich J et al.
American Journal of Medical Genetics. Part A, 2022
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