Associated Papers
VarXOmics: a versatile web server for genomic data querying, analysis, and variant prioritization with multi-omics insights.
Liao X et al.
Journal of Molecular Biology, 2026
The Contribution of Genetic Modifiers to Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.
Cylwik D et al.
Cancers, 2026
Whole-Genome Sequencing Reveals a Novel GATA2 Mutation in Lower-Grade Glioma: Bioinformatics Analysis of Functional and Therapeutic Implications.
Handoko et al.
Cancers, 2025
Association of the Rs2070075 GALT gene variant with Iranian primary ovarian insufficiency patients.
Adibi F et al.
Gene, 2025
Inherited metabolic disorders: presentation, clinical types, laboratory diagnosis and genetic markers.
Ijaz A et al.
Orphanet Journal of Rare Diseases, 2025
Qatar's National Expanded Metabolic Newborn Screening Program: Incidence and Outcomes.
Jamaleddin T et al.
International Journal of Neonatal Screening, 2025
Clinical and Developmental Outcomes After 50 Years of Newborn Bloodspot Screening for Classical Galactosaemia in the Republic of Ireland.
Pereira D et al.
Jimd Reports, 2025
Population-based, first-tier genomic newborn screening in the maternity ward.
Boemer F et al.
Nature Medicine, 2025
Reshaping the Treatment Landscape of a Galactose Metabolism Disorder.
Rubio-Gozalbo ME et al.
Journal of Inherited Metabolic Disease, 2025
Unusual Presentation of Classical Galactosemia: A Case Report of Iranian Experience.
Alaee M et al.
Clinical Case Reports, 2025
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
A case report of classic galactosemia with a GALT gene variant and a literature review.
Wang YC et al.
Bmc Pediatrics, 2024
Screening of premature ovarian insufficiency associated genes in Hungarian patients with next generation sequencing.
Illés A et al.
Bmc Medical Genomics, 2024
Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta.
Almenabawy N et al.
Molecular Genetics and Metabolism Reports, 2024
Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review.
Forte G et al.
International Journal of Molecular Sciences, 2023
Novel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotype.
Kalay I et al.
Annals of Human Genetics, 2023
Carrier burden of over 300 diseases in Han Chinese identified by expanded carrier testing of 300 couples using assisted reproductive technology.
Chen SC et al.
Journal of Assisted Reproduction and Genetics, 2023
A Novel Homozygous GALK1 Variant Combined With Cataract and Prolonged Jaundice.
Ozler O et al.
Clinical Pediatrics, 2023
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
Molecular characterization of novel and rare DNA variants in patients with galactosemia.
Maroulis V et al.
Frontiers in Genetics, 2023
The Importance of Neonatal Screening for Galactosemia.
Badiu Tișa I et al.
Nutrients, 2022
Neonatal classic galactosemia-diagnosis, clinical profile and molecular characteristics in unscreened Turkish population.
Çelik M et al.
Journal of Tropical Pediatrics, 2022
Massively parallel sequencing uncovered disease-associated variant spectra of glucose-6-phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women.
Nguyen TT et al.
Molecular Genetics & Genomic Medicine, 2022
Identification of Genetic Causes in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome: A Systematic Review of the Literature.
Triantafyllidi VE et al.
Children (basel, Switzerland), 2022
Insights into National Laboratory Newborn Screening and Future Prospects.
Mujamammi AH
Medicina (kaunas, Lithuania), 2022
Analysis of the Structure-Function-Dynamics Relationships of GALT Enzyme and of Its Pathogenic Mutant p.Q188R: A Molecular Dynamics Simulation Study in Different Experimental Conditions.
Verdino A et al.
Molecules (basel, Switzerland), 2021
The genetic basis of classical galactosaemia in Polish patients.
Jezela-Stanek A et al.
Orphanet Journal of Rare Diseases, 2021
Molecular analysis of GALT gene in Argentinian population: Correlation with enzyme activity and characterization of a novel Duarte-like allele.
Crespo C et al.
Molecular Genetics and Metabolism Reports, 2020
Molecular genetic and mitochondrial metabolic analyses confirm the suspected mitochondrial etiology in a pediatric patient with an atypical form of alternating hemiplegia of childhood.
Gropman A et al.
Molecular Genetics and Metabolism Reports, 2020
Two Distinctively Rare Syndromes in a Case of Primary Amenorrhea: 18p Deletion and Mayer-Rokitansky-Kuster-Hauser Syndromes.
Anant M et al.
Journal of Pediatric Genetics, 2020
Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study.
Almontashiri NAM et al.
Scientific Reports, 2020
An extensive computational approach to analyze and characterize the functional mutations in the galactose-1-phosphate uridyl transferase (GALT) protein responsible for classical galactosemia.
Kumar S U et al.
Computers in Biology and Medicine, 2020
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
High-Throughput Sequencing Reveals the Loss-of-Function Mutations in GALT Cause Recessive Classical Galactosemia.
Li L et al.
Frontiers in Pediatrics, 2020
Classic galactosaemia in the Greek Cypriot population: An epidemiological and molecular study.
Papachristoforou R et al.
Annals of Human Genetics, 2019
Carrier screening for recessive disorders.
Antonarakis SE
Nature Reviews. Genetics, 2019
Heterogeneity of disease-causing variants in the Swedish galactosemia population: Identification of 16 novel GALT variants.
Ohlsson A et al.
Journal of Inherited Metabolic Disease, 2019
Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey.
Teke Kisa P et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure.
Grama A et al.
Medicina (kaunas, Lithuania), 2019
The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency.
Demirbas D et al.
Molecular Genetics and Metabolism, 2019
Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia.
Korner M et al.
Orphanet Journal of Rare Diseases, 2019
Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.
Zhao S et al.
European Journal of Human Genetics : Ejhg, 2019
Screening for galactosemia: is there a place for it?
Kotb MA et al.
International Journal of General Medicine, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Galactose-1-Phosphate Uridyltransferase Activities in Different Genotypes: A Retrospective Analysis of 927 Samples.
Yuzyuk T et al.
The Journal of Applied Laboratory Medicine, 2018
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Tang D et al.
Scientific Reports, 2018