dbSNP—Database for Single Nucleotide Polymorphisms and Other Classes of Minor Genetic Variation

• Substitution-induced allosteric activation of coagulation factor IX as a potential alternative hemophilia A treatment strategy

  2026 Thrombosis Research article Medicine Hemophilia Treatment and Research Open access

  0

  citations
• Enabling Variant Proteogenomic Assay Development Through a Peptide Target Selection Pipeline and Web Application

  2026 PROTEOMICS article Chemistry Advanced Proteomics Techniques and Applications Open access

  0

  citations
• Allele-Specific Digital PCR Enhances Precision and Sensitivity in the Detection and Quantification of Copy Number Alterations in Heterogeneous DNA Samples

  2025 Clinical Chemistry article Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access

  5

  citations
• NK2R control of energy expenditure and feeding to treat metabolic diseases

  2024 Nature article Neuroscience Regulation of Appetite and Obesity Open access

  46

  citations
• CaClust: linking genotype to transcriptional heterogeneity of follicular lymphoma using BCR and exomic variants

  2024 Genome biology article Medicine Lymphoma Diagnosis and Treatment Open access

  2

  citations
• Inflammation altered correlation between CYP2C19 genotype and CYP2C19 activity in patients receiving voriconazole

  2024 Clinical and Translational Science article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access

  15

  citations
• CaClust: linking genotype to transcriptional heterogeneity of follicular lymphoma using BCR and exomic variants

  2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Single-cell and spatial transcriptomics Open access

  1

  citations
• Allele-specific digital PCR enhances precision and sensitivity in the detection and quantification of copy number alterations in heterogeneous DNA samples: an in silico and in vitro validation study

  2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access

  5

  citations
• Bioinformatics Tools and Knowledgebases to Assist Generating Targeted Assays for Plasma Proteomics

  2023 Methods in molecular biology book-chapter Chemistry Advanced Proteomics Techniques and Applications

  1

  citations
• Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study

  2022 eLife article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access

  11

  citations
• Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: a retrospective cohort study

  2022 medRxiv preprint Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access

  2

  citations

11 results