Associated Papers
Estimating at-risk couple rates across 1000 exome sequencing data cohort for 176 genes and its importance relevance for health policies.
Marinakis NM et al.
European Journal of Human Genetics : Ejhg, 2025
PLEKHG1: New Potential Candidate Gene for Periventricular White Matter Abnormalities.
Calì F et al.
Genes, 2024
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc8.xlsx › Supplementary_Table_7C
Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil.
Naslavsky MS et al.
Nature Communications, 2022
35246524 (PubMed )
Supplement: 41467_2022_28648_MOESM10_ESM.xlsx › SuppData7
The Impact of Whole Genome Data on Therapeutic Decision-Making in Metastatic Prostate Cancer: A Retrospective Analysis.
Crumbaker M et al.
Cancers, 2020
32392735 (PubMed )
Supplement: cancers-12-01178-s001.zip › cancers-762392-suppl-final › cancers-762392.xlsx › TableS1._Selected_germline_SNVs
Pituitary stalk interruption syndrome is characterized by genetic heterogeneity.
Brauner R et al.
Plos One, 2020
Airway ciliary dysfunction and respiratory symptoms in patients with transposition of the great arteries.
Zahid M et al.
Plos One, 2018
29444099 (PubMed )
Supplement: pone.0191605.s014.xlsx › CFTRMutationsTGAPatients
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