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
ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.
Enyedi EE et al.
Biomedicines, 2024
38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf
Accurate phenotypic classification and exome sequencing allow identification of novel genes and variants associated with adult-onset hearing loss.
Lewis MA et al.
Plos Genetics, 2023
Exome sequence analysis of rare frequency variants in Late-Onset Alzheimer Disease.
Sundarrajan S et al.
Metabolic Brain Disease, 2023
Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families.
Fidalgo F et al.
Plos One, 2022
35085295 (PubMed )
Supplement: pone.0262419.s002.xlsx › 288_candidate_variants
Whole exome sequencing identifies KIF26B, LIFR and LAMC1 mutations in familial vesicoureteral reflux.
Bartik ZI et al.
Plos One, 2022
Functional Validation of CLDN Variants Identified in a Neural Tube Defect Cohort Demonstrates Their Contribution to Neural Tube Defects.
Baumholtz AI et al.
Frontiers in Neuroscience, 2020
Identification and characterization of rare toll-like receptor 3 variants in patients with autoimmune Addison's disease.
Aslaksen S et al.
Journal of Translational Autoimmunity, 2019
32743495 (PubMed )
Supplement: mmc1.xlsx › Sheet1
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader A et al.
Nature Communications, 2018
29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › e__Freq_TP095
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