Associated Papers
Scalable generation and functional classification of genetic variants in inborn errors of immunity to accelerate clinical diagnosis and treatment.
Walsh ZH et al.
Cell, 2025
Paradoxical dominant negative activity of an immunodeficiency-associated activating PIK3R1 variant.
Tomlinson PR et al.
Elife, 2025
Assessing Protein Surface-Based Scoring for Interpreting Genomic Variants.
Dsouza NR et al.
International Journal of Molecular Sciences, 2024
Paradoxical dominant negative activity of an immunodeficiency-associated activating PIK3R1 variant.
Tomlinson PR et al.
Biorxiv : the Preprint Server for Biology, 2024
Structural and Dynamic Analyses of Pathogenic Variants in PIK3R1 Reveal a Shared Mechanism Associated among Cancer, Undergrowth, and Overgrowth Syndromes.
Dsouza NR et al.
Life (basel, Switzerland), 2024
Mining cancer genomes for change-of-metabolic-function mutations.
Tu KJ et al.
Communications Biology, 2023
The First Iranian Cohort of Pediatric Patients with Activated Phosphoinositide 3-Kinase-δ (PI3Kδ) Syndrome (APDS).
Fekrvand S et al.
Immunological Investigations, 2022
Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth.
Cottrell CE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Spatially interacting phosphorylation sites and mutations in cancer.
Huang KL et al.
Nature Communications, 2021
Activated PI3Kinase Delta Syndrome-A Multifaceted Disease.
Thouenon R et al.
Frontiers in Pediatrics, 2021
Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith-Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K Signaling.
Moreno-Corona N et al.
Frontiers in Pediatrics, 2021
Clinical, Immunological, and Genetic Features in Patients with Activated PI3Kδ Syndrome (APDS): a Systematic Review.
Jamee M et al.
Clinical Reviews in Allergy & Immunology, 2020
Mismatch Repair Deficiency in Ovarian Carcinoma: Frequency, Causes, and Consequences.
Leskela S et al.
The American Journal of Surgical Pathology, 2020
The mutational landscape of normal human endometrial epithelium.
Moore L et al.
Nature, 2020
Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.
Suratannon N et al.
Frontiers in Immunology, 2020
Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.
Koyama T et al.
Bmc Cancer, 2019
Clonal Expansion and Diversification of Cancer-Associated Mutations in Endometriosis and Normal Endometrium.
Suda K et al.
Cell Reports, 2018
Activated PI3 Kinase Delta Syndrome: From Genetics to Therapy.
Michalovich D et al.
Frontiers in Immunology, 2018
Molecular Mechanisms of Human Disease Mediated by Oncogenic and Primary Immunodeficiency Mutations in Class IA Phosphoinositide 3-Kinases.
Dornan GL et al.
Frontiers in Immunology, 2018
Class-Switch Recombination (CSR)/Hyper-IgM (HIGM) Syndromes and Phosphoinositide 3-Kinase (PI3K) Defects.
Jhamnani RD et al.
Frontiers in Immunology, 2018
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Reijnders MRF et al.
Nature Communications, 2017
Genetic defects in PI3Kδ affect B-cell differentiation and maturation leading to hypogammaglobulineamia and recurrent infections.
Wentink M et al.
Clinical Immunology (orlando, Fla.), 2017
Epstein-Barr Virus Susceptibility in Activated PI3Kδ Syndrome (APDS) Immunodeficiency.
Carpier JM et al.
Frontiers in Immunology, 2017
Phase II Pilot Study of Vemurafenib in Patients With Metastatic BRAF-Mutated Colorectal Cancer.
Kopetz S et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2015
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
MacConaill LE et al.
The Journal of Molecular Diagnostics : Jmd, 2014
Conjunctival melanomas harbor BRAF and NRAS mutations and copy number changes similar to cutaneous and mucosal melanomas.
Griewank KG et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2013
Structural effects of oncogenic PI3Kα mutations.
Gabelli SB et al.
Current Topics in Microbiology and Immunology, 2010
Regulation of Class IA PI 3-kinases: C2 domain-iSH2 domain contacts inhibit p85/p110alpha and are disrupted in oncogenic p85 mutants.
Wu H et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
Comprehensive genomic characterization defines human glioblastoma genes and core pathways.
Unknown Author
Nature, 2008