Pre-prints
- Conceptualising qualifying variants for genomic analysis. Pre-print 2025.
- Archipelago plot method for illustration of variant set association test statistics. Pre-print 2025.
- Empowering precision medicine with GuRu and Heracles for enhanced classification and interpretation of genomic sequence variants. Pre-print 2025.
Selected work in our history
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Masters, Seth L., et al. “Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation” Science translational medicine 8.332 (2016): 332ra45-332ra45. complex that drives the cleavage and secretion of interleukin-1β (IL-1β). Mutations in …
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Stremenova Spegarova, Jarmila, et al. “Germline TET2 loss of function causes childhood immunodeficiency and lymphoma.” Blood, The Journal of the American Society of Hematology 136.9 (2020): 1055-1066.
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Credited for newly added gene TET2 as cause of disease on the IUIS inborn errors of immuninity.
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Lawless, Dylan, et al. “Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency.” Journal of Allergy and Clinical Immunology 141.6 (2018): 2303-2306.
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Lawless, Dylan, et al. “Viral genetic determinants of prolonged respiratory syncytial virus infection among infants in a healthy term birth cohort.” The Journal of Infectious Diseases 227.10 (2023): 1194-1202.
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Adeeb, Fahd, et al. “A novel RELA truncating mutation in a familial behçet’s disease–like mucocutaneous ulcerative condition.” Arthritis & Rheumatology 73.3 (2021): 490-497. Related news and video: Inpact case report
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Lawless, Dylan, et al. “Prevalence of CFTR variants in primary immunodeficiency patients with bronchiectasis is an important modifying cofactor.” Journal of Allergy and Clinical Immunology 152.1 (2023): 257-265.
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Wu, Beibei, et al. “Biallelic mutations in calcium release activated channel regulator 2A (CRACR2A) cause a primary immunodeficiency disorder.” Elife 10 (2021): e72559.
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Credited for newly added gene CRACR2A as cause of disease on the IUIS inborn errors of immuninity.
