Equal contribution - #; Corresponding author(s) - *

• Girodengo M#, Mihaylov SR#, Klonowska K, Mantoan Ritter L, Flynn HR, Skehel JM, Bou Farhat E, Aronica E, White M, Kwiatkowski DJ, Ultanir SK*, Bateman JM*. The phosphoproteomic landscape of the neurological manifestations in tuberous sclerosis complex. Acta Neuropathol, 2026, 151(1):60. doi: 10.1007/s00401-026-03022-5
  
  
• Broniarek I, Kwiatkowski DJ, Rajan N, Seyama K, Drzewiecki M, Stolarek I, Handschuh L, Figlerowicz M, Kozlowski P, Klonowska K*. Genotype-based prevalence of Birt-Hogg-Dubé syndrome in the healthcare and genomic registry populations - breaking the 'rare disease' status? NPJ Genom Med, 2026, 11(1):17. doi: 10.1038/s41525-026-00563-2
  
  
• Bou Farhat E, Gruber VE, Klonowska K, Herbert ZT, Miller S, Langfort R, Mitsuishi Y, Johnson SR, Radzikowska E, Seyama K, Henske EP, Moss J, Hornick JL, Kwiatkowski DJ*. High prevalence of TSC2 mutations in lung tissue samples from patients with sporadic lymphangioleiomyomatosis. Eur Respir J, 2026, 67(5):2502321. doi: 10.1183/13993003.02321-2025
  
  
• Galka-Marciniak P, Urbanek-Trzeciak MO, Kuznicki D, Szostak N, Tire A, Nawrocka-Muszynska PM, Chojnacka K, Suszynska M, Klonowska K, Czubak K, Machowska M, Philips A, Maksin K, Susok L, Sand M, Rys J, Jura J, Ratajska M, Dams-Kozlowska H, Kowalewski J, Lewandowska MA, Kozlowski P. Whole-miRNome sequencing: a panel for the targeted sequencing of all human miRNA genes. Nucleic Acids Res, 2025, 53(16):gkaf812. doi: 10.1093/nar/gkaf812
  
  
• Klonowska K*, Lee J, Drzewiecki M, Grevelink JM, Boeszoermenyi B, Kozlowski P, Hanna J, Laga AC, Kwiatkowski DJ*. TSC angiofibroma and ungual fibroma have different mutation signatures, with recurrent mutations in KMT2C. Genet Med, 2025, 27(10):101538. doi: 10.1016/j.gim.2025.101538  
  
  
• Huschner F#, Głowacka-Walas J#, Mills JD, Klonowska K, Lasseter K, Asara JM, Moavero R, Hertzberg C, Weschke B, Riney K, Feucht M, Scholl T, Krsek P, Nabbout R, Jansen AC, Petrák B, van Scheppingen J, Zamecnik J, Iyer A, Anink JJ, Mühlebner A, Mijnsbergen C, Lagae L, Curatolo P, Borkowska J, Sadowski K, Domańska-Pakieła D, Blazejczyk M, Jansen FE, Janson S, Urbanska M, Tempes A, Janssen B, Sijko K, Wojdan K, Jozwiak S, Kotulska K, Lehmann K, Aronica E, Jaworski J, Kwiatkowski DJ*. Molecular EPISTOP: Comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two years.Nature Communications, 2023, 14(1):7664. doi: 10.1038/s41467-023-42855-6
  
  
• Giannikou K*, Klonowska K, Tsuji J, Wu S, Zhu Z, Probst CK, Kao KZ, Wu C, Rodig S, Marino-Enriquez A, Zen Y, Schaefer I, Kwiatkowski DJ*. TSC2 inactivation, low mutation burden, and high macrophage infiltration characterize hepatic angiomyolipomas. Histopathology, 2023, 83(4):569-581. doi: 10.1111/his.15005
  
  
• Klonowska K*, Giannikou K, Grevelink JM, Boeszoermenyi B, Thorner AR, Herbert ZT, Afrin A, Treichel AM, Hamieh L, Kotulska K, Jozwiak S, Moss J, Darling TN, Kwiatkowski DJ*. Comprehensive genetic and phenotype analysis of 95 individuals with mosaic Tuberous Sclerosis Complex. Am J Hum Genet, 2023, 1;110(6):979-988. doi: 10.1016/j.ajhg.2023.04.002
  
  
• Klonowska K*, Grevelink JM, Giannikou K, Ogorek BA, Herbert ZT, Thorner AR, Darling TN, Moss J, Kwiatkowski DJ*. Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.J Clin Invest, 2022, 132(10):e155858.  doi: 10.1172/JCI155858
  
  
• Klonowska K, Thiele EA, Grevelink JM, Thorner AR, Kwiatkowski DJ*. Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking tuberous sclerosis complex. J Med Genet, 2022, Sep;59(9):920-923. doi: 10.1136/jmedgenet-2021-108160
  
  
• Adib E#, Klonowska K#, Giannikou K, Do KT, Pruitt-Thompson S, Bhushan K, Milstein MI, Hedglin J, Kargus KE, Sholl LM, Tsuji J, Hyman DM, Sisk A, Shapiro GI, Vargas HA, Harding JJ, Voss MH, Iyer G, Kwiatkowski DJ*. Phase II Clinical Trial of Everolimus in a Pan-Cancer Cohort of Patients with mTOR Pathway Alterations. Clin Cancer Res, 2021, 27(14):3845-3853. doi: 10.1158/1078-0432.CCR-20-4548
  
  
• Ogórek B, Hamieh L, Hulshof HM, Lasseter K, Klonowska K, Kuijf H, Moavero R, Hertzberg C, Weschke B, Riney K, Feucht M, Scholl T, Krsek P, Nabbout R, Jansen AC, Benova B, Aronica E, Lagae L, Curatolo P, Borkowska J, Sadowski K, Domańska-Pakieła D, Janson S, Kozlowski P, Urbanska M, Jaworski J, Jozwiak S, Jansen FE, Kotulska K; EPISTOP Consortium members, Kwiatkowski DJ*. TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study. Genet Med, 2020, 22(9):1489-1497. doi: 10.1038/s41436-020-0823-4
  
  
• El-Chemaly S*, Taveira-DaSilva A, Bagwe S, Klonowska K, Machado T, Lamattina AM, Goldberg HJ, Jones AM, Julien-Williams P, Maurer R, Rosas IO, Henske EP, Moss J, Kwiatkowski DJ*. Celecoxib in lymphangioleiomyomatosis: results of a phase I clinical trial. Eur Respir J, 2020, 55(5):1902370. doi: 10.1183/13993003.02370-2019  
  
  
• Suszynska M*#, Kluzniak W#, Wokolorczyk D, Jakubowska A, Huzarski T, Gronwald J, Debniak T, Szwiec M, Ratajska M, Klonowska K, Narod S, Bogdanova N, Dörk T, Lubinski J, Cybulski C, Kozlowski P*. BARD1 is A Low/Moderate Breast Cancer Risk Gene: Evidence Based on An Association Study of the Central European p.Q564X Recurrent Mutation.Cancers (Basel), 2019, 11(6):740. doi: 10.3390/cancers11060740
  
  
• Salussolia CL, Klonowska K, Kwiatkowski DJ, Sahin M*. Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex.Annu Rev Genomics Hum Genet, 2019, 20:217-240. doi: 10.1146/annurev-genom-083118-015354
  
  
• Suszynska M, Klonowska K, Jasinska AJ, Kozlowski P*. Large-scale meta-analysis of mutations identified in panels of breast/ovarian cancer-related genes - Providing evidence of cancer predisposition genes.Gynecol Oncol, 2019, 153(2):452-462. doi: 10.1016/j.ygyno.2019.01.027
  
  
• Klonowska K, Kluzniak W, Rusak B, Jakubowska A, Ratajska M, Krawczynska N, Vasilevska D, Czubak K, Wojciechowska M, Cybulski C, Lubinski J, Kozlowski P*. The 30 kb deletion in the APOBEC3 cluster decreases APOBEC3A and APOBEC3B expression and creates a transcriptionally active hybrid gene but does not associate with breast cancer in the European population.Oncotarget, 2017, 8(44):76357-76374. doi: 10.18632/oncotarget.19400  
  
  
• Klonowska K, Ratajska M, Czubak K, Kuzniacka A, Brozek I, Koczkowska M, Sniadecki M, Debniak J, Wydra D, Balut M, Stukan M, Zmienko A, Nowakowska B, Irminger-Finger I, Limon J, Kozlowski P*. Analysis of large mutations in BARD1 in patients with breast and/or ovarian cancer: the Polish population as an example. Scientific Reports, 2015, 5:10424. doi: 10.1038/srep10424