Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
Functional characterisation of missense ceruloplasmin variants and real-world prevalence assessment of Aceruloplasminemia using population data.
Ziliotto N et al.
Ebiomedicine, 2025
SOD1-Related Cerebellar Ataxia and Motor Neuron Disease: Cp Variant as Functional Modifier?
Marsili L et al.
Cerebellum (london, England), 2024
Targeted sequencing of selected functional genes in patients with wild-type transthyretin amyloidosis.
Moreno-Gázquez I et al.
Bmc Research Notes, 2023
Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.
Olkinuora AP et al.
Frontiers in Oncology, 2022
36387175 (PubMed )
Supplement: Table_6.xlsx › Table_S6
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.
Nassir N et al.
Human Genomics, 2021
34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbMS-non_synonymous_ex
Ceruloplasmin variants might have different effects in different iron overload disorders.
Pelucchi S et al.
Journal of Hepatology, 2021
Reply to: "Ceruloplasmin variants might have different effects in different iron overload disorders".
Corradini E et al.
Journal of Hepatology, 2021
Exomes of Ductal Luminal Breast Cancer Patients from Southwest Colombia: Gene Mutational Profile and Related Expression Alterations.
Cortes-Urrea C et al.
Biomolecules, 2020
32365829 (PubMed )
Supplement: biomolecules-10-00698-s001.zip › Article-to-BIOMOLECULES_R1_v4Apr2020 › CortesUrreaetal_R1_Supp_Table_S2_339SNPs.xlsx › Tab_S2_339_SNPs_440_alterations
Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis.
Vila Cuenca M et al.
International Journal of Molecular Sciences, 2020
Spectrum of germline mutations in smokers and non-smokers in Brazilian non-small-cell lung cancer (NSCLC) patients.
Couto PP et al.
Carcinogenesis, 2017
Clinical evaluation of a hemochromatosis next-generation sequencing gene panel.
Lanktree MB et al.
European Journal of Haematology, 2017
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