Associated Papers
Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.
D'Agostino Y et al.
Diagnostics (basel, Switzerland), 2022
36292100 (PubMed )
Supplement: diagnostics-12-02411-s001.zip › Supplementary_table_S3.xlsx › Foglio1
Alterations in SLC4A2, SLC26A7 and SLC26A9 Drive Acid-Base Imbalance in Gastric Neuroendocrine Tumors and Uncover a Novel Mechanism for a Co-Occurring Polyautoimmune Scenario.
Calvete O et al.
Cells, 2021
Leveraging Human Genetics to Identify Safety Signals Prior to Drug Marketing Approval and Clinical Use.
Jerome RN et al.
Drug Safety, 2020
Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.
Pinheiro M et al.
Cancers, 2020
32443704 (PubMed )
Supplement: cancers-12-01289-s001.zip › cancers-768495_-Supplementary_Tables_.xlsx › Table_S2
A role for TENM1 mutations in congenital general anosmia.
Alkelai A et al.
Clinical Genetics, 2016
27040985 (PubMed )
Supplement: supplement_1.pdf
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.
Cereda M et al.
Nature Communications, 2016
27377421 (PubMed )
Supplement: ncomms12072-s6.xlsx › Supplementary_Data_5
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