Associated Papers
Deep Intronic SVA_E Insertion Identified as the Most Common Pathogenic Variant Associated With Canavan Disease: A Diagnostic Blind Spot.
Dominguez Gonzalez CA et al.
Neurology. Genetics, 2025
Deep Intronic SVA_E Retrotransposition as a Novel Factor in Canavan Disease Pathogenesis.
Weiß M et al.
Human Gene Therapy, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
PathVar: A Customisable NGS Variant Calling Algorithm Implicates Novel Candidate Genes and Pathways in Hemiplegic Migraine.
Alfayyadh MM et al.
Clinical Genetics, 2025
Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders.
Chen F et al.
Npj Digital Medicine, 2024
Identification of potential pharmacological chaperones that selectively stabilize mutated Aspartoacylases in Canavan disease.
Poddar NK et al.
Biochimica Et Biophysica Acta. Proteins and Proteomics, 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
Homozygous Paternally Inherited ASPA Variant in a Patient with Canavan Disease.
Yalcintepe S et al.
Molecular Syndromology, 2024
Cellular and molecular mechanisms of aspartoacylase and its role in Canavan disease.
Grønbæk-Thygesen M et al.
Cell & Bioscience, 2024
Urine N-Acetylaspartate Distinguishes Phenotypes in Canavan Disease.
Nagy A et al.
Human Gene Therapy, 2024
Shortcomings of ethnicity-based carrier screening for conditions associated with Ashkenazi Jewish ancestry.
Llorin H et al.
Genetics in Medicine Open, 2024
Developing a human iPSC-derived three-dimensional myelin spheroid platform for modeling myelin diseases.
Feng L et al.
Iscience, 2023
Adeno-associated virus-mediated gene therapy in a patient with Canavan disease using dual routes of administration and immune modulation.
Corti M et al.
Molecular Therapy. Methods & Clinical Development, 2023
RETRACTED: Pathogenic Variants Associated with Rare Monogenic Diseases Established in Ancient Neanderthal and Denisovan Genome-Wide Data.
Toncheva D et al.
Genes, 2023
An unusual case of a toddler with Canavan disease with frequent intractable seizures: A case report and review of the literature.
Irilouzadian R et al.
Sage Open Medical Case Reports, 2023
Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.
Waldman S et al.
Cell, 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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Feline Spongy Encephalopathy With a Mutation in the ASPA Gene.
Takaichi Y et al.
Veterinary Pathology, 2021
The natural history of Canavan disease: 23 new cases and comparison with patients from literature.
Bley A et al.
Orphanet Journal of Rare Diseases, 2021
A Transparent Approach to Calculate Detection Rate and Residual Risk for Carrier Screening.
Leung ML et al.
The Journal of Molecular Diagnostics : Jmd, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Cell-Based Therapy for Canavan Disease Using Human iPSC-Derived NPCs and OPCs.
Feng L et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2020
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.
Kaseniit KE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
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
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA et al.
Plos Genetics, 2018
Comparative computational assessment of the pathogenicity of mutations in the Aspartoacylase enzyme.
George Priya Doss C et al.
Metabolic Brain Disease, 2017
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Docking, molecular dynamics and free energy studies on aspartoacylase mutations involved in Canavan disease.
Kocak A et al.
Journal of Molecular Graphics & Modelling, 2017
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.
Mendes MI et al.
Human Mutation, 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
Atypical clinical and radiological course of a patient with Canavan disease.
Sarret C et al.
Metabolic Brain Disease, 2016
Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences.
Fujikura K
Plos One, 2016
Leukodystrophy with multiple beaded periventricular cysts: unusual cranial MRI results in Canavan disease.
Drenckhahn A et al.
Journal of Inherited Metabolic Disease, 2015
Canavan disease - unusual imaging features in a child with mild clinical presentation.
Nguyen HV et al.
Pediatric Radiology, 2015
A Novel Mutation in Aspartoacylase Gene; Canavan Disease.
Ashrafi M et al.
Iranian Journal of Child Neurology, 2015
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
Aspartoacylase catalytic deficiency as the cause of Canavan disease: a structural perspective.
Wijayasinghe YS et al.
Biochemistry, 2014