Research graph
References from Management change following NGS diagnosis of inborn errors of immunity: The Australasian experience. Local targets link to admitted publications; unresolved targets remain external evidence.
Inborn errors of immunity: An expanding universe of disease and genetic architecture
10.1038/s41576-023-00656-z · 2024 · External reference
Rheumatologic and autoimmune features of inborn errors of immunity: Implications for diagnosis and management
10.70962/jhi.20250034 · 2025 · External reference
Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies expert committee
10.70962/jhi.20250003 · 2025 · External reference
From clinical observations and molecular dissection to novel therapeutic strategies for primary immunodeficiency disorders
10.1002/ajmg.a.38480 · 2018 · External reference
Human inborn errors of immunity: An expanding universe
10.1126/sciimmunol.abb1662 · 2020 · External reference
Precision medicine in the treatment of primary immune deficiency patients with disorders of immune dysregulation
10.1007/s12016-021-08871-4 · 2022 · External reference
Mechanism-based precision therapy for the treatment of primary immunodeficiency and primary immunodysregulatory diseases
10.1016/j.jaip.2018.12.017 · 2019 · External reference
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
10.1016/j.jaci.2016.05.042 · 2017 · External reference
Clinical utility of whole exome sequencing and targeted panels for the identification of inborn errors of immunity in a resource-constrained setting
10.3389/fimmu.2021.665621 · 2021 · External reference
Inborn errors of immunity in children with autoimmune and allergic complaints: A single center experience from diagnosis to treatment
10.3390/biomedicines11051299 · 2023 · External reference
Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management
10.1016/j.jaci.2021.04.005 · 2022 · External reference
Evaluation and pilot testing of a multidisciplinary model of care to mainstream genomic testing for paediatric inborn errors of immunity
10.1038/s41431-023-01321-z · 2023 · External reference
The clinical Immunogenomics research consortium Australasia (CIRCA): A distributed network model for genomic healthcare delivery
10.1007/s10875-020-00787-6 · 2020 · External reference
Impact of genetic diagnosis on the outcome of hematopoietic stem cell transplant in primary immunodeficiency disorders
10.1007/s10875-022-01403-5 · 2022 · External reference
Personalized hematopoietic stem cell transplantation for inborn errors of immunity
10.3389/fimmu.2023.1162605 · 2023 · External reference
Progress in the field of hematopoietic stem cell-based therapies for inborn errors of immunity
10.1097/mop.0000000000001292 · 2023 · External reference
TREC/KREC newborn screening followed by next-generation sequencing for severe combined immunodeficiency in Japan
10.1007/s10875-022-01335-0 · 2022 · External reference
Second-tier next generation sequencing integrated in nationwide newborn screening provides rapid molecular diagnostics of severe combined immunodeficiency
10.3389/fimmu.2020.01417 · 2020 · External reference
Genomic sequencing as a first-tier screening test and outcomes of newborn screening
10.1001/jamanetworkopen.2023.31162 · 2023 · External reference
A genomic sequencing approach to newborn mass screening and its opportunities
10.1001/jamanetworkopen.2025.38198 · 2025 · External reference
Whole genome sequencing from dried blood spots for newborn screening of Menkes disease and 36 other actionable inherited neurometabolic disorders
10.1016/j.ymgme.2026.109763 · 2026 · External reference
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases
10.1016/j.ajhg.2022.08.003 · 2022 · External reference
Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study
10.1038/s41591-025-03986-z · 2025 · External reference
Genomic-based newborn screening for inborn errors of immunity: Practical and ethical considerations
10.3390/ijns9020022 · 2023 · External reference
Audit of clinical outcomes of an Immunogenomics clinic in an adult tertiary hospital
10.70962/ascia2025abstract.p174 · 2025 · External reference
Implementation of early next-generation sequencing for inborn errors of immunity: A prospective observational cohort study of diagnostic yield and clinical implications in Dutch genome diagnostic centers
10.3389/fimmu.2021.780134 · 2021 · External reference
A novel case of IFNAR1 deficiency identified a common canonical splice site variant in DOCK8 in western polynesia: The importance of validating variants of unknown significance in under-represented ancestries
10.1007/s10875-024-01774-x · 2024 · External reference
A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes
10.1084/jem.20220028 · 2022 · External reference
Denisovan, modern human and mouse TNFAIP3 alleles tune A20 phosphorylation and immunity
10.1038/s41590-019-0492-0 · 2019 · External reference
Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness
10.1038/s41436-018-0006-8 · 2019 · External reference
Evaluation of the parents’ anxiety levels before and after the diagnosis of their child with a rare genetic disease: The necessity of psychological support
10.1186/s13023-021-02046-2 · 2021 · External reference
Unmet psychosocial needs of parents of children with rare, complex, and severe genetic diseases
10.1111/dmcn.15002 · 2022 · External reference
Exploring the journey to genomic testing and genetic services: A qualitative study of parental perspectives of children with rare conditions
10.1002/jgc4.1996 · 2025 · External reference
A novel heterozygous pathogenic AIRE variant causing autoimmunity but not infectious susceptibility
10.70962/jhi.20250151 · 2025 · External reference
