Associated Papers
Combined clinical and genomic analysis uncovers neonatal-onset Wilson disease in two siblings with idiopathic cholestasis.
Khabou B et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2026
Germline mutational landscape in a large cohort of Indian breast cancer.
Peter J et al.
Bmc Cancer, 2025
Evaluation of the Relationship Between Neurologic Manifestations and Genetic Mutations in Wilson's Disease with Next-Generation Sequencing.
Akbulut S et al.
Diagnostics (basel, Switzerland), 2025
Relative exchangeable copper: A highly specific and sensitive biomarker for Wilson disease diagnosis.
Djebrani-Oussedik N et al.
Jhep Reports : Innovation in Hepatology, 2025
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.
Melo M et al.
International Journal of Molecular Sciences, 2025
The Genomic Landscape of Wilson Disease in a Pan India Disease Cohort and Population-Scale Data.
Kumar M et al.
Movement Disorders Clinical Practice, 2025
Spectrum and classification of ATP7B variants with clinical correlation in children with Wilson disease.
Al-Obaidi RG et al.
Saudi Medical Journal, 2025
Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport Activities.
Calvo JS et al.
Human Mutation, 2025
Clinical and Genetic Profile of Pediatric and Adult Wilson's Disease in India.
Kulkarni AV et al.
Gastro Hep Advances, 2025
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
Navigating the CRISPR/Cas Landscape for Enhanced Diagnosis and Treatment of Wilson's Disease.
Choi W et al.
Cells, 2024
The mutation spectrum and ethnic distribution of Wilson disease, a review.
Beyzaei Z et al.
Molecular Genetics and Metabolism Reports, 2024
Epidemiology of Wilson's Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions.
Ovchinnikova EV et al.
International Journal of Molecular Sciences, 2024
Wilson disease-causing mutations in the carboxyl terminus of ATP7B regulates its localization and Golgi exit selectively in the unpolarized cells.
Chakraborty K et al.
Metallomics : Integrated Biometal Science, 2023
Genomic Variations in ATP7B Gene in Indian Patients with Wilson Disease.
Nagral A et al.
Indian Journal of Pediatrics, 2023
Secondary findings in a large Pakistani cohort tested with whole genome sequencing.
Skrahin A et al.
Life Science Alliance, 2023
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Mutational analysis of exon 8 and exon 14 of ATP7B gene in Bangladeshi children with Wilson disease.
Tasmeen R et al.
Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology, 2022
Re-evaluation of King Wilson Index in Children With Acutely Decompensated Hepatic Wilson Disease.
Chanpong A et al.
Journal of Pediatric Gastroenterology and Nutrition, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Wilson Disease Prevalence: Discrepancy Between Clinical Records, Registries and Mutation Carrier Frequency.
Lorente-Arencibia P et al.
Journal of Pediatric Gastroenterology and Nutrition, 2022
Wilson's disease: update on pathogenesis, biomarkers and treatments.
Shribman S et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2021
Prevalence of Wilson disease based on genome databases in Japan.
Yamaguchi H et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease.
Woimant F et al.
Molecular Genetics & Genomic Medicine, 2020
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Analysis of Wilson disease mutations revealed that interactions between different ATP7B mutants modify their properties.
Roy S et al.
Scientific Reports, 2020
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Cheema H et al.
Npj Genomic Medicine, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.
Singh N et al.
Plos One, 2019
Characterization of mutation spectrum and identification of novel mutations in ATP7B gene from a cohort of Wilson disease patients: Functional and therapeutic implications.
Kumari N et al.
Human Mutation, 2018
Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson Disease.
Cheng N et al.
Clinical Genetics, 2017
A 6-year-old boy with Wilson disease-A diagnostic dilemma.
Ganesh R et al.
Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology, 2017
The genetics of Wilson disease.
Chang IJ et al.
Handbook of Clinical Neurology, 2017
Geographic distribution of ATP7B mutations in Wilson disease.
Gomes A et al.
Annals of Human Biology, 2016
Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort.
Guggilla SR et al.
Gene, 2015
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
The Pragmatic Treatment of Wilson's Disease.
Aggarwal A et al.
Movement Disorders Clinical Practice, 2014
Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation.
Mukherjee S et al.
Parkinsonism & Related Disorders, 2014
A review and current perspective on Wilson disease.
Patil M et al.
Journal of Clinical and Experimental Hepatology, 2013
Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations.
Aggarwal A et al.
Annals of Human Genetics, 2013
Genetics of Wilson's disease: a clinical perspective.
Kumar SS et al.
Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology, 2012