Jonathan C. Stephens
Cambridge, ENG, United Kingdom
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 41 publications
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Journal: American journal of human genetics
Published: March 13, 2023
Immunodeficiency, autoimmunity, and increased risk of B cell malignancy in humans with TRAF3 mutations.
Journal: Science immunology
Published: August 12, 2022
Long-Read Sequencing Identifies the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin Deficiency.
Journal: Thrombosis and haemostasis
Published: June 28, 2022
Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension.
Journal: Circulation. Genomic and precision medicine
Published: December 15, 2020
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Journal: Nature
Published: July 18, 2020
Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes.
Journal: European journal of human genetics : EJHG
Published: March 30, 2020
A new pedigree with thrombomodulin-associated coagulopathy in which delayed fibrinolysis is partially attenuated by co-inherited TAFI deficiency.
Journal: Journal of thrombosis and haemostasis : JTH
Published: March 25, 2020
Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome.
Journal: Blood
Published: February 10, 2020
ADA2 deficiency complicated by EBV-driven lymphoproliferative disease.
Journal: Clinical immunology (Orlando, Fla.)
Published: January 21, 2020
Last Updated: 09/26/2026