Associated Papers
Genetic and functional dynamics of Butyrylcholinesterase in Alzheimer's disease: From mechanisms to clinical relevance.
Prešern U et al.
Chemico-biological Interactions, 2026
Succinylcholine-induced rhabdomyolysis in a patient with RYR1 and BCHE variants: A case report.
Harrison TE et al.
Biomolecules & Biomedicine, 2025
A feasibility study of whole genome germline testing as an adjunct screening tool in a UK general private practice.
Jones AB et al.
Scientific Reports, 2025
Discovery of a new function of human butyrylcholinesterase and the catalytic activity of its natural variants toward homocysteine thiolactone hydrolysis.
Chen X et al.
Chemico-biological Interactions, 2025
Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye.
Kablan A et al.
Clinical Genetics, 2025
Hereditary Pseudocholinesterase Deficiency and Succinylcholine: Historical Perspective, Therapeutic Implications, and Future Considerations.
Nguyen JQ et al.
Pharmacotherapy, 2025
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.
Malhotra A et al.
Hgg Advances, 2025
Hereditary pseudocholinesterase deficiency in a 4-year-old girl: a case report.
Schulze-Berge J et al.
Journal of Medical Case Reports, 2025
Arab founder variants: Contributions to clinical genomics and precision medicine.
AlAbdi L et al.
Med (new York, N.y.), 2025
A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity.
Moresco G et al.
Genes & Genomics, 2025
Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing.
Maggo S et al.
Frontiers in Genetics, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 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
Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial.
Kingsmore SF et al.
American Journal of Human Genetics, 2024
A novel BCHE frameshift mutation in a Chinese woman with butyrylcholinesterase deficiency: A case report and literature review.
Zeng J et al.
Medicine, 2024
AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification.
Kim J et al.
Bioinformatics (oxford, England), 2024
Trio-based exome sequencing and high-resolution HLA typing in families of patients with autoimmune adrenal insufficiency and autoimmune polyglandular syndrome.
Buianova A et al.
Plos One, 2024
The Association of Selected GWAS Reported AD Risk Loci with CSF Biomarker Levels and Cognitive Decline in Slovenian Patients.
Vogrinc D et al.
International Journal of Molecular Sciences, 2023
Genetic screening in a Brazilian cohort with inborn errors of immunity.
Ferreira CS et al.
Bmc Genomic Data, 2023
FarGen: Elucidating the distribution of coding variants in the isolated population of the Faroe Islands.
Mortensen Ó et al.
European Journal of Human Genetics : Ejhg, 2023
The Expansion of the Spectrum in Stuttering Disorders to a Novel ARMC Gene Family (ARMC3).
Rehman AU et al.
Genes, 2022
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Pathogenic variants carrier screening in New Brunswick: Acadians reveal high carrier frequency for multiple genetic disorders.
Robichaud PP et al.
Bmc Medical Genomics, 2022
Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-concept study of Russian subjects.
Orlov IE et al.
European Journal of Medical Genetics, 2022
Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan.
Perfilyeva A et al.
Disease Markers, 2022
Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.
Zhou Y et al.
Science Advances, 2021
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Cochran M et al.
Molecular Genetics & Genomic Medicine, 2021
Fetal Fractures in an Infant with Maternal Ehlers-Danlos Syndrome, CCDC134 Pathogenic Mutation and a Negative Genetic Test for Osteogenesis Imperfecta.
Holick MF et al.
Children (basel, Switzerland), 2021
Characterization of four BCHE mutations associated with prolonged effect of suxamethonium.
Brazzolotto X et al.
The Pharmacogenomics Journal, 2021
Phenotype and genotype characteristics of 58 patients showing a prolonged effect of succinylcholine: A four-year experience.
Millet C et al.
Anaesthesia, Critical Care & Pain Medicine, 2021
Exome-Wide Search for Genes Associated With Central Nervous System Inflammatory Demyelinating Diseases Following CHIKV Infection: The Tip of the Iceberg.
Alves-Leon SV et al.
Frontiers in Genetics, 2021
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
Genetic Testing for BCHE Variants Identifies Patients at Risk of Prolonged Neuromuscular Blockade in Response to Succinylcholine.
Zhu GD et al.
Pharmacogenomics and Personalized Medicine, 2020
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S et al.
Cold Spring Harbor Molecular Case Studies, 2018
Molecular characterization and polymorphisms of butyrylcholinesterase in cynomolgus macaques.
Uno Y et al.
Journal of Medical Primatology, 2018
Supporting precision medicine by data mining across multi-disciplines: an integrative approach for generating comprehensive linkages between single nucleotide variants (SNVs) and drug-binding sites.
Roy Choudhury A et al.
Bioinformatics (oxford, England), 2017
Activity and polymorphisms of butyrylcholinesterase in a Polish population.
Jasiecki J et al.
Chemico-biological Interactions, 2016
Naturally Occurring Genetic Variants of Human Acetylcholinesterase and Butyrylcholinesterase and Their Potential Impact on the Risk of Toxicity from Cholinesterase Inhibitors.
Lockridge O et al.
Chemical Research in Toxicology, 2016
Patients with prolonged effect of succinylcholine or mivacurium had novel mutations in the butyrylcholinesterase gene.
Wichmann S et al.
Pharmacogenetics and Genomics, 2016
[Prolonged neuromuscular block in a patient with butyrylcholinesterase deficiency].
Mabboux I et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2016