Associated Papers
Acquired cystinuria in a kidney transplant recipient.
Martin C et al.
Clinical Kidney Journal, 2025
Whole-exome sequencing of kidney transplant recipients and donors: insights into end-stage renal disease and post-transplant genetic risk.
Bayanova M et al.
Bmc Nephrology, 2025
First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases.
Lucca C et al.
Clinical Genetics, 2025
Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.
Kaplanis J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Nephrotic Syndrome Induced by Tiopronin in a Male Patient with Cystinuria.
Karanfilovski V et al.
Balkan Journal of Medical Genetics : Bjmg, 2025
Phenotypes and the Importance of Genetic Analysis in Adult Patients with Nephrolithiasis and/or Nephrocalcinosis: A Single-Center Experience.
Rusu EE et al.
Genes, 2025
Genetic Testing in Adults over 50 Years with Chronic Kidney Disease: Diagnostic Yield and Clinical Implications in a Specialized Kidney Genetics Clinic.
Schott C et al.
Genes, 2025
Germline Whole-Exome Sequencing in Non-Smoker Lung Cancer Patients Reveals Pathogenic Variants in Lung Cancer Driver Genes.
Carapezza G et al.
Genes, Chromosomes & Cancer, 2025
Opportunistic genomic screening has clinical utility: An interventional cohort study.
Mighton C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Implementation of a Kidney Genetic Service Into the Diagnostic Pathway for Patients With Chronic Kidney Disease in Canada.
Schott C et al.
Kidney International Reports, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Mechanisms involved in aminoacidurias: impacts of genetic and environmental factors.
Ajayi JA et al.
Current Research in Physiology, 2025
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
Prevalence and characteristics of genetic disease in adult kidney stone formers.
Anderegg MA et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2024
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
The genetics of cystinuria - an update and critical reevaluation.
Abad Baucells C et al.
Current Opinion in Nephrology and Hypertension, 2024
Molecular identification of missense variants in SLC3A1 gene; an approach leading to computer-aided drug design for cystinuria.
Zafar R et al.
Gene, 2023
Exploring the Contribution of the Transporter AGT1/rBAT in Cystinuria Progression: Insights from Mouse Models and a Retrospective Cohort Study.
Mayayo-Vallverdú C et al.
International Journal of Molecular Sciences, 2023
Population genetics analysis of SLC3A1 and SLC7A9 revealed the etiology of cystine stone may be more than what our current genetic knowledge can explain.
Wu CW et al.
Urolithiasis, 2023
Co-Occurrence of Germline Genomic Variants and Copy Number Variations in Hereditary Breast and Colorectal Cancer Patients.
Côrtes L et al.
Genes, 2023
Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening.
Avnat E et al.
Genes, 2023
Exome-First Strategy in Adult Patients With CKD: A Cohort Study.
Doreille A et al.
Kidney International Reports, 2023
Use of whole-exome sequencing to identify novel monogenic gene mutations and genotype-phenotype correlations in Chinese Han children with urolithiasis.
Wang Z et al.
Frontiers in Genetics, 2023
Genetic and clinical analysis of Chinese pediatric patients with cystinuria.
Zhan R et al.
Urolithiasis, 2022
Rare germline deleterious variants increase susceptibility for lung cancer.
Sang J et al.
Human Molecular Genetics, 2022
Systematic assessment of monogenic etiology in adult-onset kidney stone formers undergoing urological intervention-evidence for genetic pretest probability.
Schönauer R et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.
Waks AG et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022
Ca2+-mediated higher-order assembly of heterodimers in amino acid transport system b0,+ biogenesis and cystinuria.
Lee Y et al.
Nature Communications, 2022
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Martín-Rivada Á et al.
Jimd Reports, 2022
Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants.
Tuncay IO et al.
Npj Genomic Medicine, 2022
Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-concept study of Russian subjects.
Orlov IE et al.
European Journal of Medical Genetics, 2022
Clinical profile of a Polish cohort of children and young adults with cystinuria.
Tkaczyk M et al.
Renal Failure, 2021
Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease.
Cogal AG et al.
Kidney International Reports, 2021
The Ectodomains of rBAT and 4F2hc Are Fake or Orphan α-Glucosidases.
Fort J et al.
Molecules (basel, Switzerland), 2021
Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience.
Vaisitti T et al.
Journal of Nephrology, 2021
Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings.
Lenherr-Taube N et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Computational analysis identifies druggable mutations in human rBAT mediated Cystinuria.
Pandey B et al.
Journal of Biomolecular Structure & Dynamics, 2021
A Novel Variant in Iranian Patient with Cystinuria: A Case Report.
Mardi A et al.
Iranian Journal of Public Health, 2021
Analysis of SLC7A9 gene mutations among Jordanian patients with cystinuria.
Halalsheh OM et al.
Annals of Medicine and Surgery (2012), 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.
Thiffault I et al.
Cold Spring Harbor Molecular Case Studies, 2020
Cryo-EM structure of the human heteromeric amino acid transporter b0,+AT-rBAT.
Yan R et al.
Science Advances, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
Genetic and Clinical Analyses of 13 Chinese Families With Cystine Urolithiasis and Identification of 15 Novel Pathogenic Variants in SLC3A1 and SLC7A9.
Li C et al.
Frontiers in Genetics, 2020
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020