Associated Papers
Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.
Lang GT et al.
Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 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
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 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
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis.
Bisikirska B et al.
Science Translational Medicine, 2024
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Comprehensive genetic analyses of childhood acute leukemia in Iraq using next-generation sequencing.
Al-Kzayer LFY et al.
Translational Pediatrics, 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
Evaluation of genetic alterations in hereditary cancer susceptibility genes in the Ashkenazi Jewish women community of Mexico.
Díaz-Velásquez CE et al.
Frontiers in Genetics, 2023
The germline mutational landscape of genitourinary cancers and its indication for prognosis and risk.
Yang Y et al.
Bmc Urology, 2022
De novo and inherited variants in coding and regulatory regions in genetic cardiomyopathies.
Vadgama N et al.
Human Genomics, 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
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Pathogenic variant-based preconception carrier screening in the Israeli Jewish population.
Davidov B et al.
Clinical Genetics, 2022
Generation of an induced pluripotent stem cell line SDQLCHi026-A from a hereditary tyrosinemia type I patient carrying compound heterozygote mutations in FAH gene.
Zhang H et al.
Stem Cell Research, 2021
Phenotype, genotype, and outcome of 25 Palestinian patients with hereditary tyrosinemia type 1.
Dweikat I et al.
Metabolism Open, 2021
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Comparison of pan-ethnic and ethnic-based carrier screening panels for individuals of Ashkenazi Jewish descent.
Rosenblum LS et al.
Journal of Genetic Counseling, 2020
Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain.
Couce ML et al.
Medicine, 2019
Hereditary tyrosinemia type I-associated mutations in fumarylacetoacetate hydrolase reduce the enzyme stability and increase its aggregation rate.
Macias I et al.
The Journal of Biological Chemistry, 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
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA et al.
Plos Genetics, 2018
Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.
Chinsky JM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Molecular Aspects of the FAH Mutations Involved in HT1 Disease.
Morrow G et al.
Advances in Experimental Medicine and Biology, 2017
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
Expanded genetic screening panel for the Ashkenazi Jewish population.
Baskovich B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1.
Angileri F et al.
Jimd Reports, 2015
[Mutation analysis of FAH gene in patients with tyrosinemia type 1].
Dou LM et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2013
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
Lazarin GA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013
Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family.
Sheth JJ et al.
Case Reports in Genetics, 2012
Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin.
Imtiaz F et al.
Molecular Genetics and Metabolism, 2011
Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type I.
Elpeleg ON et al.
Human Mutation, 2002
Crystal structure and mechanism of a carbon-carbon bond hydrolase.
Timm DE et al.
Structure (london, England : 1993), 1999
Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.
Bergman AJ et al.
Human Mutation, 1998
A patient with urinary succinylacetone-negative hereditary tyrosinemia type 1.
Mori J et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 0