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European Journal of Human Genetics : EJHG|June 3, 2026
Constitutional methylation of the MLH1 promoter: a case series including tumors not typically caused by Lynch SyndromeLise Graversen, Jannie Assenholt, Inge Søkilde Pedersen, et al.
Scientific Reports|October 17, 2018
Whole Exome Sequencing of HIV-1 long-term non-progressors identifies rare variants in genes encoding innate immune sensors and signaling moleculesSara Konstantin Nissen, Mette Christiansen, Marie Helleberg, et al.
Human Immunology|July 23, 2017
Assessing a single targeted next generation sequencing for human leukocyte antigen typing protocol for interoperability, as performed by users with variable experienceManish J Gandhi, Deborah Ferriola, Curt Lind, et al.
Journal of Clinical Immunology|September 30, 2025
Diagnostic and Monitoring Strategies for VEXAS Syndrome: Evaluating Sanger Sequencing, NGS, and the SWIM-ScoreLasse von Bornemann Fløe, Kirstine Overgaard Dyrmose, Camilla Darum Sørensen, et al.
The Journal of Experimental Medicine|July 29, 2015
Functional IRF3 deficiency in a patient with herpes simplex encephalitisLine Lykke Andersen, Nanna Mørk, Line S Reinert, et al.
Science Immunology|December 14, 2020
Defects in <i>LC3B2</i> and <i>ATG4A</i> underlie HSV2 meningitis and reveal a critical role for autophagy in antiviral defense in humansAlon Schneider Hait, David Olagnier, Vanessa Sancho-Shimizu, et al.
Journal of Immunology (Baltimore, Md. : 1950)|June 29, 2021
Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 DeficiencyTom Le Voyer, Sonoko Sakata, Miyuki Tsumura, et al.
The Journal of Allergy and Clinical Immunology|April 13, 2020
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutationsTiziana Lorenzini, Manfred Fliegauf, Nils Klammer, et al.
Medrxiv : the Preprint Server for Health Sciences|July 15, 2024
Biallelic variants in <i>POPDC2</i> cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathyMichele Nicastro, Alexa M C Vermeer, Pieter G Postema, et al.
American Journal of Human Genetics|May 23, 2025
Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathyMichele Nicastro, Alexa M C Vermeer, Pieter G Postema, et al.
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