Associated Papers
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
Hereditary Pseudocholinesterase Deficiency and Succinylcholine: Historical Perspective, Therapeutic Implications, and Future Considerations.
Nguyen JQ et al.
Pharmacotherapy, 2025
Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing.
Maggo S et al.
Frontiers in Genetics, 2025
40510810 (PubMed )
Supplement: Table3.xlsx › Table_S1
A novel BCHE frameshift mutation in a Chinese woman with butyrylcholinesterase deficiency: A case report and literature review.
Zeng J et al.
Medicine, 2024
39465744 (PubMed )
Supplement: medi-103-e39976-s001.xlsx › BCHE_Table2
Pheochromocytoma/Paraganglioma Syndrome Type 1 Presenting with Atypical Symptoms and a Novel Pathogenic Variant in the SDHD Gene: A Case Report.
Zohrehvand E et al.
Archives of Iranian Medicine, 2024
39306716 (PubMed )
Supplement: aim-27-447-s001.xlsx › Variants_After_Filterations
A method to comprehensively identify germline SNVs, INDELs and CNVs from whole exome sequencing data of BRCA1/2 negative breast cancer patients.
Bianchi A et al.
Nar Genomics and Bioinformatics, 2024
38633426 (PubMed )
Supplement: lqae033_supplemental_files.zip › Supplementary_Table_1.xlsx › Supplementary_Table_1
Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen-Kolk syndrome.
Correa Brito L et al.
Frontiers in Genetics, 2024
38528912 (PubMed )
Supplement: Table1.xlsx › ACMG_Clasification
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Cochran M et al.
Molecular Genetics & Genomic Medicine, 2021
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
Molecular characterization and polymorphisms of butyrylcholinesterase in cynomolgus macaques.
Uno Y et al.
Journal of Medical Primatology, 2018
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader A et al.
Nature Communications, 2018
29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › d__Freq_TP093
Activity and polymorphisms of butyrylcholinesterase in a Polish population.
Jasiecki J et al.
Chemico-biological Interactions, 2016
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC7_ERR166315
How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.
Middha S et al.
Frontiers in Genetics, 2015
26257771 (PubMed )
Supplement: Table12.XLSX › snv.tier2
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