Associated Papers
Clinical relevant Bruton's X-linked tyrosine kinase deficiency in a female with extreme X-chromosome inactivation.
NoorSaeed SM et al.
Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2025
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Utilizing Patient-Derived Xenografts to Model Precision Oncology for Biliary Tract Cancer.
DiPeri TP et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Multi-omics profiling of longitudinal samples reveals early genomic changes in follicular lymphoma.
Bai B et al.
Blood Cancer Journal, 2024
Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency.
Garcia-Prat M et al.
Journal of Clinical Immunology, 2024
Genetics and clinical phenotypes in common variable immunodeficiency.
Cunningham-Rundles C et al.
Frontiers in Genetics, 2023
Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test.
Nazarenko MS et al.
International Journal of Molecular Sciences, 2022
B cell repertoire in patients with a novel BTK mutation: expanding the spectrum of atypical X-linked agammaglobulinemia.
Toker O et al.
Immunologic Research, 2022
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Characterization of all possible single-nucleotide change caused amino acid substitutions in the kinase domain of Bruton tyrosine kinase.
Väliaho J et al.
Human Mutation, 2015
Coding-region alterations in BTK do not universally cause X-linked agammaglobulinemia.
Abbott JK et al.
The Journal of Allergy and Clinical Immunology, 2013
The energy landscape analysis of cancer mutations in protein kinases.
Dixit A et al.
Plos One, 2011
Genetics of hypogammaglobulinemia: what do we really know?
Conley ME
Current Opinion in Immunology, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Primary B cell immunodeficiencies: comparisons and contrasts.
Conley ME et al.
Annual Review of Immunology, 2009
What does it take to call it a pathogenic mutation?
Fleisher TA et al.
Clinical Immunology (orlando, Fla.), 2008
A minimally hypomorphic mutation in Btk resulting in reduced B cell numbers but no clinical disease.
Conley ME et al.
Clinical and Experimental Immunology, 2008