Items where Author is "Hakonarson, H."

Article

(2026) Genotype-phenotype correlations and cancer risk in monogenic epidermodysplasia verruciformis. Journal of the European Academy of Dermatology and Venereology : JEADV. e755-e758. ISSN 1468-3083 (Electronic) 0926-9959 (Print) 0926-9959 (Linking)

(2026) Longest surviving patient with a homozygous splice-altering EGFR pathogenic variant presenting with skin autoinflammation and a Bartter-like salt-losing tubulopathy. Journal of medical genetics. ISSN 1468-6244 (Electronic) 0022-2593 (Linking)

(2025) Clinicogenetic characterisation of SLC29A3-related syndromes: a case series, tracing ancestral variants and molecular dynamics simulation. Journal of Medical Genetics. p. 12. ISSN 0022-2593

(2025) DOCK2 Deficiency and GATA2 Haploinsufficiency Can Underlie Critical Coronavirus Disease 2019 (COVID-19) Pneumonia. Journal of Clinical Immunology. p. 14. ISSN 0271-9142

(2025) Filaggrinopathies-FLG/FLG2: Diagnostic Complexities and Immunotherapy. The Journal of investigative dermatology. ISSN 1523-1747 (Electronic) 0022-202X (Linking)

(2025) A Systematic Review of Mendelian Pyoderma Gangrenosum: Clinical and Genetic Characteristics in 120 Published Patients. Experimental Dermatology. p. 16. ISSN 0906-6705

(2024) Causal effect of serum 25 hydroxyvitamin D concentration on cardioembolic stroke: Evidence from two-sample Mendelian randomization. Nutrition Metabolism and Cardiovascular Diseases. p. 9. ISSN 0939-4753

(2024) Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review. Genetics in Medicine. p. 33. ISSN 1098-3600

(2016) Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study. Plos Medicine. ISSN 1549-1676