Oliver Wegehaupt

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Publications (17)

• Digenic and multigenic heterozygous FHL genotypes are common but clinically silent in the general population
  Blood Advances 2026 DOI: 10.1182/bloodadvances.2025018781
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• Long‐read sequencing reveals SVA insertion in AP3B1 causing Hermansky–Pudlak syndrome 2
  Pediatric Allergy and Immunology 2026 DOI: 10.1111/pai.70406
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• Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants
  Blood 2025 DOI: 10.1182/blood.2024027954
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• The role of the co‐chaperone DNAJB11 in polycystic kidney disease: Molecular mechanisms and cellular origin of cyst formation
  The FASEB Journal 2024 DOI: 10.1096/fj.202401763R
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• Variable Syndromic Immunodeficiency in Patients with Biallelic PRIM1 Mutations
  Journal of Clinical Immunology 2024 DOI: 10.1007/s10875-024-01733-6
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• The Role of the Co-Chaperone DNAJB11 in Polycystic Kidney Disease: Molecular Mechanisms and Cellular Origin of Cyst Formation
  2024 DOI: 10.1101/2024.03.04.582938
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• Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study.
  The Lancet. Haematology 2024 DOI: 10.1016/s2352-3026(23)00362-9
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• Superspreading, overdispersion and their implications in the SARS-CoV-2 (COVID-19) pandemic: a systematic review and meta-analysis of the literature.
  BMC public health 2023 DOI: 10.1186/s12889-023-15915-1
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• Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing.
  The Journal of allergy and clinical immunology 2023 DOI: 10.1016/j.jaci.2023.11.006
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• Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients
  Journal of Clinical Immunology 2022 DOI: 10.1007/s10875-022-01312-7
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