Associated Papers
Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent.
Duraisamy AJ et al.
The Journal of Molecular Diagnostics : Jmd, 2024
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency.
Strand J et al.
Frontiers in Immunology, 2020
Graft versus host disease and microchimerism in a JAK3 deficient patient.
Shahbazi Z et al.
Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2019
Chronic active Epstein-Barr virus infection as the initial symptom in a Janus kinase 3 deficiency child: Case report and literature review.
Zhong L et al.
Medicine, 2017
A Case of IL-7R Deficiency Caused by a Novel Synonymous Mutation and Implications for Mutation Screening in SCID Diagnosis.
Gallego-Bustos F et al.
Frontiers in Immunology, 2016
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Hypomorphic Janus kinase 3 mutations result in a spectrum of immune defects, including partial maternal T-cell engraftment.
Cattaneo F et al.
The Journal of Allergy and Clinical Immunology, 2013
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