Associated Papers
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Reducing Mortality and Morbidity in Children with Severe Combined Immunodeficiency in Switzerland: the Role of Newborn Screening.
Soomann M et al.
Journal of Clinical Immunology, 2024
SCID and Other Inborn Errors of Immunity with Low TRECs - the Brazilian Experience.
Barreiros LA et al.
Journal of Clinical Immunology, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Inborn Errors of Immunity With Fetal or Perinatal Clinical Manifestations.
Carneiro-Sampaio M et al.
Frontiers in Pediatrics, 2022
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.
Grossi A et al.
Genes, 2021
Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.
Wu N et al.
Journal of Cellular and Molecular Medicine, 2020
Pediatric Somatic Tumor Sequencing Identifies Underlying Cancer Predisposition.
MacFarland SP et al.
Jco Precision Oncology, 2019
Unusual dermatological presentation and immune phenotype in SCID due to an IL7R mutation: the value of whole-exome sequencing and the potential benefit of newborn screening.
Marquardt L et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 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
Autoimmune manifestations in SCID due to IL7R mutations: Omenn syndrome and cytopenias.
Zago CA et al.
Human Immunology, 2014
Newborn screening for SCID in New York State: experience from the first two years.
Vogel BH et al.
Journal of Clinical Immunology, 2014
The human IL-7 receptor gene: deletions, polymorphisms and mutations.
Mazzucchelli RI et al.
Seminars in Immunology, 2012
Omenn syndrome does not live by V(D)J recombination alone.
Marrella V et al.
Current Opinion in Allergy and Clinical Immunology, 2011
IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity due to chronic GVHD.
Butte MJ et al.
Clinical Immunology (orlando, Fla.), 2007
Omenn syndrome: a lack of tolerance on the background of deficient lymphocyte development and maturation.
Hönig M et al.
Current Opinion in Rheumatology, 2006
Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients.
Giliani S et al.
Immunological Reviews, 2005