Last Updated: 09/26/2026
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Found 21 publications
Multicenter international cohort study of HA20 reveals novel genetic architecture and phenotypic evolution.
Journal: The Journal of allergy and clinical immunology
Published: June 26, 2025
Multicenter international cohort study of haploinsufficiency of A20 reveals novel genetic architecture and phenotypic evolution.
Journal: The Journal of allergy and clinical immunology
Published: June 26, 2025
Social Determinants of Health and No-Show Clinic Appointments in Children with 22q11.2-Related Disorders.
Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
Published: March 17, 2025
The immunogenetic basis of severe herpes simplex infections in neonates and children: a review.
Journal: Pediatric research
Published: July 12, 2024
Hearing Loss in Children with 22q11.2 Deletion Syndrome.
Journal: The Laryngoscope
Published: May 24, 2024
IRF2BP2 deficiency: An important form of common variable immunodeficiency with inflammation.
Journal: The Journal of allergy and clinical immunology
Published: November 30, 2023
COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report.
Journal: Journal of clinical immunology
Published: August 02, 2023
Sleep profiles in children with 22q deletion syndrome: a study of 100 consecutive children seen in a multidisciplinary clinic.
Journal: Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine
Published: August 17, 2022
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 15, 2021
IRF7 and UNC93B1 variants in an infant with recurrent herpes simplex virus infection.
Journal: The Journal of clinical investigation
Published: August 12, 2021
T Cell Transcriptome in Chromosome 22q11.2 Deletion Syndrome.
Journal: Journal of immunology (Baltimore, Md. : 1950)
Published: April 09, 2021
HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease.
Journal: Science (New York, N.Y.)
Published: June 30, 2019
Last Updated: 09/26/2026