Associated Papers
Germline variants in ATM, BRCA2, other cancer predisposition and novel candidate genes are implicated in glioma risk in adult glioma patients with a familial or personal history of tumors.
Brand F et al.
Acta Neuropathologica, 2026
Uncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population.
Tabassum I et al.
International Journal of Molecular Sciences, 2025
Using the ancestral recombination graph to study the history of rare variants in founder populations.
Mejia-Garcia A et al.
American Journal of Human Genetics, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
RNA dysfunction in age-related macular degeneration: the role of U1 snRNP complex and neurodegenerative diseases.
Bottos JM et al.
International Journal of Retina and Vitreous, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Identification of the Mutations Spectrum in the Fumarylacetoacetate Hydrolase Gene in Tyrosinemia Type 1 Patients in Northeastern Iran.
Yazdani AH et al.
Biochemical Genetics, 2025
Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German-speaking countries.
Das AM et al.
Journal of Inherited Metabolic Disease, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Integrative Analysis of Germline Rare Variants in Clear and Non-clear Cell Renal Cell Carcinoma.
Han SH et al.
European Urology Open Science, 2024
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Kiewiet G et al.
International Journal of Neonatal Screening, 2024
Decoding hepatorenal tyrosinemia type 1: Unraveling the impact of early detection, NTBC, and the role of liver transplantation.
Kehar M et al.
Canadian Liver Journal, 2024
A Lithuanian Case of Tyrosinemia Type 1 with a Literature Review: A Rare Cause of Acute Liver Failure in Childhood.
Rokaitė R et al.
Medicina (kaunas, Lithuania), 2024
A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone.
Dijkstra AM et al.
International Journal of Neonatal Screening, 2023
Development of Engineered-U1 snRNA Therapies: Current Status.
Gonçalves M et al.
International Journal of Molecular Sciences, 2023
[Clinical features and genetic analysis of a child with acute form of Tyrosinemia type I due to a novel variant of FAH gene].
Zhang Q et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023
Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma.
Han S et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
The compound heterozygous mutations of c.607G>a and c.657delC in the FAH gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1).
Chi H et al.
Molecular Genetics & Genomic Medicine, 2023
Identification and functional characterization of a novel homozygous intronic variant in the fumarylacetoacetate hydrolase gene in a Chinese patient with tyrosinemia type 1.
Chen J et al.
Bmc Medical Genomics, 2022
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
A case report of two siblings with hypertyrosinemia type 1 presenting with hepatic disease with different onset time and severity.
Kawabata K et al.
Molecular Genetics and Metabolism Reports, 2022
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
Using Long-Term Follow-Up Data to Classify Genetic Variants in Newborn Screened Conditions.
Wilhelm K et al.
Frontiers in Genetics, 2022
Hereditary tyrosinemia type Ⅰ: newborn screening, diagnosis and treatment.
Tang Y et al.
Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 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
Phenotype, genotype, and outcome of 25 Palestinian patients with hereditary tyrosinemia type 1.
Dweikat I et al.
Metabolism Open, 2021
Diazoxide-responsive hyperinsulinaemic hypoglycaemia in tyrosinaemia type 1.
Sotiridou E et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2021
Mechanism underlying the regulation of sortilin expression and its trafficking function.
Ouyang S et al.
Journal of Cellular Physiology, 2020
Trends of congenital hypothyroidism and inborn errors of metabolism in Pakistan.
Mansoor S
Orphanet Journal of Rare Diseases, 2020
Genetic Analysis of Tyrosinemia Type 1 and Fructose-1, 6 Bisphosphatase Deficiency Affected in Pakistani Cohorts.
Yasir Zahoor M et al.
Fetal and Pediatric Pathology, 2020
Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses.
Tangeraas T et al.
International Journal of Neonatal Screening, 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
Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant.
Ibarra-González I et al.
Molecular Genetics & Genomic Medicine, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain.
Couce ML et al.
Medicine, 2019
Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child.
Rius R et al.
Molecular Genetics and Metabolism, 2019
The Unique Spectrum of Mutations in Patients with Hereditary Tyrosinemia Type 1 in Different Regions of the Russian Federation.
Baydakova GV et al.
Jimd Reports, 2019
The somatic FAH C.1061C>A change counteracts the frequent FAH c.1062+5G>A mutation and permits U1snRNA-based splicing correction.
Scalet D et al.
Journal of Human Genetics, 2018
Inborn Errors of Metabolism with Hepatopathy: Metabolism Defects of Galactose, Fructose, and Tyrosine.
Demirbas D et al.
Pediatric Clinics of North America, 2018
Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles.
Yang H et al.
Molecular Genetics and Metabolism Reports, 2018
Experience of carrier couples identified through a population-based carrier screening pilot program for four founder autosomal recessive diseases in Saguenay-Lac-Saint-Jean.
Tardif J et al.
Prenatal Diagnosis, 2018