Associated Papers
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature.
van der Laan L et al.
Hgg Advances, 2025
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.
Blackburn PR et al.
Annals of Neurology, 2024
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder.
Blackburn PR et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis.
Tran Mau-Them F et al.
Frontiers in Genetics, 2023
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