Publications

Flagship technologies

• Quant: The quantitative omic epidemiology group, et al. “Quantifying prior probabilities for disease-causing variants reveals the top genetic contributors in inborn errors of immunity” medRxiv preprint (2025).
  DOI | PDF | Video

• QV: Lawless, Dylan, et al. “Application of qualifying variants for genomic analysis” medRxiv preprint (2025).
  DOI | PDF | Video | Database

• PanelAppRex: Quant Group, et al. “PanelAppRex aggregates disease gene panels and facilitates sophisticated search” medRxiv preprint (2025).
  Repository | DOI | PDF | Video | Application | Dataset

• Archipelago: Lawless, Dylan, et al. “Archipelago method for variant set association test statistics” medRxiv preprint (2025).
  DOI | PDF | Repository

Currently under review

• Perspective: Hardy-Weinberg a century later and new horizons in clinical genomics. Under review.

• Review: A Bayesian reference model for genetic variant interpretation. Pre-print

• Article: Quant resolves Mendelian disease uncertainty through genome-wide Bayesian inference. Pre-print

• Systematic review: A systematic review of quantitative Bayesian variant causality. Pre-print

Other works

• 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.
  DOI

• 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.
  DOI

• Credited for newly added gene TET2 as cause of disease on the IUIS inborn errors of immuninity.

• 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.
  DOI

• 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.
  DOI | PDF

• 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
  DOI

• 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.
  DOI

• Wu, Beibei, et al. “Biallelic mutations in calcium release activated channel regulator 2A (CRACR2A) cause a primary immunodeficiency disorder.” Elife 10 (2021): e72559.
  DOI

• Credited for newly added gene CRACR2A as cause of disease on the IUIS inborn errors of immuninity.