Associated Papers
The curious case of a heterozygous loss-of-function PSEN1 variant associated with early-onset Alzheimer's disease.
Sanjuan-Ruiz I et al.
Molecular Neurodegeneration Advances, 2025
41127441 (PubMed )
Supplement: 44477_2025_4_MOESM2_ESM.xlsx › Sheet1
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.
Vanni I et al.
Journal of Translational Medicine, 2024
38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM15_ESM.xlsx › S15
Whole Exome Sequencing Reveals a Novel Damaging Mutation in Human Fibroblast Activation Protein in a Family with Esophageal Squamous Cell Carcinoma.
Golyan FF et al.
Journal of Gastrointestinal Cancer, 2020
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.
Kim A et al.
Brain : a Journal of Neurology, 2019
30508070 (PubMed )
Supplement: awy290_supplementary_table_s1.pdf
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