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
41442065 (PubMed )
Supplement: 439_2025_2796_MOESM4_ESM.xlsx › ST2
Mechanisms involved in aminoacidurias: impacts of genetic and environmental factors.
Ajayi JA et al.
Current Research in Physiology, 2025
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Martín-Rivada Á et al.
Jimd Reports, 2022
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon.
Tostivint I et al.
Clinical Genetics, 2017
Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine.
Martell HJ et al.
Bmc Genomics, 2017
28812535 (PubMed )
Supplement: 12864_2017_3913_MOESM1_ESM.xlsx › Table_S10
The genetic diversity of cystinuria in a UK population of patients.
Wong KA et al.
Bju International, 2015
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC11_ERR166336
An overview of SLC3A1 and SLC7A9 mutations in Greek cystinuria patients.
Chatzikyriakidou A et al.
Molecular Genetics and Metabolism, 2008
Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.
Louizou E et al.
Human Genetics, 2007
Evidence for association of SLC7A9 gene haplotypes with cystinuria manifestation in SLC7A9 mutation carriers.
Chatzikyriakidou A et al.
Urological Research, 2006
Identification of novel cystinuria mutations and polymorphisms in SLC3A1 and SLC7A9 genes: absence of SLC7A10 gene mutations in cystinuric patients.
Chatzikyriakidou A et al.
Genetic Testing, 2005
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