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
Nabais Sa-de Vries syndrome in a Chinese infant associated with a novel SPOP mutation: A clinical study and genetic report.
Hu W et al.
Molecular Genetics & Genomic Medicine, 2022
Clinical and genomic insights into circulating tumor DNA-based alterations across the spectrum of metastatic hormone-sensitive and castrate-resistant prostate cancer.
Kohli M et al.
Ebiomedicine, 2020
32268276 (PubMed )
Supplement: mmc5.xlsx › cfDNA_SNV
De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.
Nabais Sá MJ et al.
American Journal of Human Genetics, 2020
A glioneuronal tumor with CLIP2-MET fusion.
Chowdhury T et al.
Npj Genomic Medicine, 2020
32550005 (PubMed )
Supplement: 41525_2020_131_MOESM2_ESM.xlsx › Mutation__mutect_pass_
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