Publications

ORCID record: ORCID iD 0000-0001-8496-3725

Preprints and in progress

Rare variants in infection response protein pathways associated with sepsis in children . Dylan Lawless, Pauline Rogg, Manon Bouzereau, Robin Fallegger, Zaira Seferbekova, Valeriia Timonina, Konstantin Popadin, Ali Saadat, Zhi Ming Xu, Simon Boutry, Christian W. Thorball, Flavia Hodel, Alessandro Borghesi, Johannes Trück, Martin Stocker, Klara M. Posfay-Barbe, Ulrich Heininger, Sara Bernhard-Stirnemann, Anita Niederer-Loher, Christian Kahlert, Giancarlo Natalucci, Christa Relly, Thomas Riedel, Christoph Aebi, Christoph Berger, Eric Giannoni, Philipp Agyeman, Jacques Fellay, Luregn J. Schlapbach, the Swiss Pediatric Sepsis Study. Preprint: 10.1101/2025.06.12.25329504. under review

Hardy-Weinberg a century later and new horizons in clinical genomics . Dylan Lawless. 2025. under review

Quantifying prior probabilities for disease-causing variants reveals the top genetic contributors in inborn errors of immunity . Quant Group, Simon Boutry, Ali Saadat, Maarja Soomann, Johannes Trück, D. Sean Froese, Jacques Fellay, Sinisa Savic, Luregn J. Schlapbach, Dylan Lawless. 2025. Preprint: 10.1101/2025.03.25.25324607. under review

A Bayesian model for quantifying genomic variant evidence sufficiency in Mendelian disease . Quant Group, Ali Saadat, Veronika Stadler, Cornelia Hagmann, Maarja Soomann, Lars Malmström, Shweta Pipaliya, Jacques Fellay, Dylan Lawless. 2025. Preprint: 10.64898/2025.12.02.25341503. under review

An actor-critic reinforcement learning framework for variant evidence interpretation . Dylan Lawless. 2025. Preprint: 10.1101/2025.03.14.25323954. preprint

A Bayesian reference model for genetic variant interpretation . Dylan Lawless. 2025. in progress

A systematic review of quantitative Bayesian variant causality . Dylan Lawless. 2025. in progress

Accepted

Genome-wide association study of pediatric bacteremia and sepsis . Dylan Lawless, Flavia Aurelia Hodel, Christian W. Thorball, Zhi Ming Xu, Alessandro Borghesi, Eric Giannoni, Johannes Trück, Martin Stocker, Klara M. Posfay-Barbe, Ulrich Heininger, Sara Bernhard-Stirnemann, Anita Niederer-Loher, Christian R. Kahlert, Giancarlo Natalucci, Christa Relly, Christoph Berger, Thomas Riedel, Christoph Aebi, Philipp Agyeman, Jacques Fellay, Luregn J. Schlapbach, for the Swiss Pediatric Sepsis Study Group. The Lancet eBioMedicine 2026. DOI: 10.1016/j.ebiom.2026.106320. Preprint. accepted

Published

Archipelago method for variant set association test statistics . Dylan Lawless, Ali Saadat, Mariam Ait Oumelloul, Luregn J. Schlapbach, Jacques Fellay. Genetic Epidemiology, 50(1), e70025, January 2026. DOI: 10.1002/gepi.70025. Preprint.

Application of qualifying variants for genomic analysis . Dylan Lawless, Ali Saadat, Mariam Ait Oumelloul, Simon Boutry, Veronika Stadler, Sabine Österle, Jan Armida, David Haerry, D. Sean Froese, Luregn J. Schlapbach, Jacques Fellay. Bioinformatics, 42(2), btaf676, January 2026. DOI: 10.1093/bioinformatics/btaf676. Preprint.

PanelAppRex aggregates disease gene panels and facilitates sophisticated search . Quant Group, Simon Boutry, Ali Saadat, Sinisa Savic, Luregn J. Schlapbach, Jacques Fellay, Dylan Lawless. Bioinformatics Advances, May 2026. DOI: 10.1093/bioadv/vbag115. Preprint.

A practical guide to diagnosing immunodeficiency . Maarja Soomann, Austen Worth, Dylan Lawless, Johannes Trück. Pediatric Infectious Disease Journal, 44(10), e374-e377, July 2025. DOI: 10.1097/INF.0000000000004904.

Reply to Dages et al: You AIn't using it right, artificial intelligence progress in allergy . Dylan Lawless. Journal of Allergy and Clinical Immunology, 153(1), 355-356, January 2024. DOI: 10.1016/j.jaci.2023.09.023.

Prevalence of CFTR variants in primary immunodeficiency patients with bronchiectasis is an important modifying cofactor . Dylan Lawless, Hana Lango Allen, James E. D. Thaventhiran, Sarah Goddard, Oliver S. Burren, Evie Robson, Daniel Peckham, Kenneth G. C. Smith, Sinisa Savic. Journal of Allergy and Clinical Immunology, 152(1), 257-265, July 2023. DOI: 10.1016/j.jaci.2023.01.035.

Viral genetic determinants of prolonged respiratory syncytial virus infection among infants in a healthy term birth cohort . Dylan Lawless, Christopher G. McKennan, Suman R. Das, Thomas Junier, Zhi Ming Xu, Larry J. Anderson, Tebeb Gebretsadik, Meghan H. Shilts, Emma Larkin, Christian Rosas-Salazar, James D. Chappell, Jacques Fellay, Tina V. Hartert. The Journal of Infectious Diseases, 227(10), 1194-1202, November 2022. DOI: 10.1093/infdis/jiac442.

Biallelic mutations in calcium release activated channel regulator 2A (CRACR2A) cause a primary immunodeficiency disorder . Beibei Wu, Laura Rice, Jennifer Shrimpton, Dylan Lawless, Kieran Walker, Clive Carter, Lynn McKeown, Rashida Anwar, Gina M. Doody, Sonal Srikanth, Yousang Gwack, Sinisa Savic. eLife, 10, December 2021. DOI: 10.7554/eLife.72559.

Germline TET2 loss of function causes childhood immunodeficiency and lymphoma . Jarmila Stremenova Spegarova, Dylan Lawless, Siti Mardhiana Binti Mohamad, Karin R. Engelhardt, Gina Doody, Jennifer Shrimpton, Anne Rensing-Ehl, Stephan Ehl, Frederic Rieux-Laucat, Catherine Cargo, Helen Griffin, Aneta Mikulasova, Meghan Acres, Neil V. Morgan, James A. Poulter, Eamonn G. Sheridan, Philip Chetcuti, Sean O'Riordan, Rashida Anwar, Clive R. Carter, Stefan Przyborski, Kevin Windebank, Andrew J. Cant, Majlinda Lako, Chris M. Bacon, Sinisa Savic, Sophie Hambleton. Blood, 136(9), 1055-1066, August 2020. DOI: 10.1182/blood.2020005844.

A novel RAG1 mutation reveals a critical in vivo role for HMGB1/2 during V(D)J recombination . Daniel T. Thwaites, Clive Carter, Dylan Lawless, Sinisa Savic, Joan M. Boyes. Blood, 133(8), 820-829, February 2019. DOI: 10.1182/blood-2018-07-866939.

Predicting the occurrence of variants in RAG1 and RAG2 . Dylan Lawless, Hana Lango Allen, James Thaventhiran, Flavia Hodel, Rashida Anwar, Jacques Fellay, Jolan E. Walter, Sinisa Savic. Journal of Clinical Immunology, 39(7), 688-701, August 2019. DOI: 10.1007/s10875-019-00670-z.

Expanding clinical phenotype and novel insights into the pathogenesis of ICOS deficiency . Hassan Abolhassani, Yasser M. El-Sherbiny, Gururaj Arumugakani, Clive Carter, Stephen Richards, Dylan Lawless, Philip Wood, Matthew Buckland, Marzieh Heydarzadeh, Asghar Aghamohammadi, Sophie Hambleton, Lennart Hammarström, Siobhan O. Burns, Rainer Doffinger, Sinisa Savic. Journal of Clinical Immunology, 40(2), 277-288, December 2019. DOI: 10.1007/s10875-019-00735-z.

Prevalence and clinical challenges among adult primary immunodeficiency patients with RAG deficiency . Dylan Lawless, Christopher B. Geier, Jennifer R. Farmer, Hana Lango Allen, Daniel Thwaites, Fatma Atschekzei, Michael Brown, David Buchbinder, Siobhan O. Burns, Manish J. Butte, Krisztian Csomos, Sai V. V. Deevi, William Egner, Stephan Ehl, Sinisa Savic. Journal of Allergy and Clinical Immunology, February 2018. DOI: 10.1016/j.jaci.2018.02.007.

A case of adult-onset Still's disease caused by a novel splicing mutation in TNFAIP3 successfully treated with tocilizumab . Dylan Lawless, Shelly Pathak, Thomas Edward Scambler, Lylia Ouboussad, Rashida Anwar, Sinisa Savic. Frontiers in Immunology, 9, July 2018. DOI: 10.3389/fimmu.2018.01527.

Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation . Seth L. Masters, V. Lagou, Isabelle Jéru, P. J. Baker, L. Van Eyck, D. A. Parry, Dylan Lawless, D. De Nardo, J. E. Garcia-Perez, L. F. Dagley, C. L. Holley, J. Dooley, F. Moghaddas, E. Pasciuto, P. Y. Jeandel, R. Sciot, D. Lyras, A. I. Webb, S. E. Nicholson, L. De Somer, E. Van Nieuwenhove, J. Ruuth-Praz, B. Copin, E. Cochet, M. Medlej-Hashim, A. Megarbane, K. Schroder, Sinisa Savic, A. Goris, S. Amselem, C. Wouters, A. Liston. Science Translational Medicine, 8(332) 2016. DOI: 10.1126/scitranslmed.aaf1471.