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Preprints

Fontaine Y; Aradhya S; Ji S; Masle-Farquhar E; Bosi I; Forkgen J; Qiao Z; Stevanovski I; Reis ALM; Rapadas M; Suan D; Hsu P; Wainstein B; Hewitt A; Figtree G; Deveson I; Siggs O, 2025, Combined genomic and phenotypic classification of inherited and acquired genetic disease with long-read sequencing, http://dx.doi.org/10.1101/2025.05.08.25327265

Munoz M; Skinner O; Masle-Farquhar E; Jurczyluk J; Xiao Y; Fletcher E; Kristianto E; Hodson M; O’Donoghue S; Kaur S; Brink R; Zahra D; Deenick E; Perry K; Robertson AAB; Mehr S; Hissaria P; Mulders-Manders C; Simon A; Rogers M, 2022, Increased core body temperature exacerbates defective protein prenylation in mouse avatars of mevalonate kinase deficiency, http://dx.doi.org/10.1101/2022.02.28.480959

Masle-Farquhar E; Peters TJ; Jackson KJ; Singh M; S. C; Suan D; Uzel G; Chua I; Leiding JW; Heiskanen K; Preece K; Kainulainen L; O’Sullivan M; Cooper MA; Seppänen MR; Mustjoki S; Brothers S; Vogel TP; Brink R; Tangye SG; Reed JH; Goodnow CC, 2021, Overactive STAT3 Drives Accumulation of Disease-Associated CD21 low B Cells, http://dx.doi.org/10.2139/ssrn.3996405

Masle-Farquhar E; Peters TJ; Miosge LA; Parish IA; Weigel C; Oakes CC; Reed JH; Goodnow CC, 2021, Uncontrolled CD21 low Age-Associated and B1 B Cell Accumulation Caused by Failure of an EGR2/3 Tolerance Checkpoint, http://dx.doi.org/10.2139/ssrn.3885243

Ho W-HJ; Law A; Masle-Farquhar E; Castillo L; Mawson A; O’Bryan M; Goodnow C; Ortega DG; Oakes S; Ormandy C, 2021, Activation of the viral sensor oligoadenylate synthetase 2 (Oas2) prevents pregnancy-driven mammary cancer metastases, http://dx.doi.org/10.21203/rs.3.rs-842107/v1

Al-Eryani G; Bartonicek N; Chan C-L; Anderson A; Harvey K; Wu SZ; Roden D; Wang T; Reeves J; Yeung BZ; Masle-Farquhar E; Goodnow CC; Ma C; Phan TG; Lundeberg J; Junankar S; Swarbrick A, Integration of single-cell RNA and protein data identifies novel clinically-relevant lymphocyte phenotypes in breast cancers, http://dx.doi.org/10.1101/2022.05.31.494081

Kavanagh D; Steel A; King HE; Vieira HGS; Kumar KR; Masle-Farquhar E; King C; Skvortsova K; Weatheritt R, Lineage-specific X chromosome inactivation escape and skew underlie sex-biased immune gene dosage and deleterious variant exposure, http://dx.doi.org/10.64898/2026.08.26.739472

Masle-Farquhar E; Russell A; Li Y; Zhu F; Rui L; Brink R; Goodnow CC, Loss-of-function of Fbxo10, encoding a post-translational regulator of BCL2 in lymphomas, has no discernible effect on BCL2 or B lymphocyte accumulation in mice, http://dx.doi.org/10.1101/2020.08.05.237545

Masle-Farquhar E; Peters T; Jackson KJ; Singh M; S C; Suan D; Uzel G; Chua I; Leiding JW; Heiskanen K; Preece K; Kainulainen L; O’Sullivan M; Cooper MA; Seppänen MR; Mustjoki S; Brothers S; Vogel TP; Brink R; Tangye SG; Reed JH; Goodnow CC, Overactive STAT3 drives accumulation of disease-associated CD21low B cells, http://dx.doi.org/10.1101/2021.12.20.473595

Al-Eryani G; Van Der Leij S; Masle-Farquhar E; Chan C-L; Harvey K; Wu SZ; Roden D; Wang T; Reeves J; Yeung BZ; Goodnow CC; Ma CS; Perou CM; Hacohen N; Al'Khafaji AM; Nilsson M; Lundeberg J; Batten M; Junankar S; Swarbrick A, Proteotranscriptomic Dissection of Breast Cancer T Cell States Identifies CD103+ Tfh-derived Cytotoxic Cells Linked to Immunotherapy Response, http://dx.doi.org/10.21203/rs.3.rs-8394722/v1

Forkgen J; Masle-Farquhar E; Fontaine Y; Russell A; Ji S; Peters TJ; Qiao Z; Geaghan M; Jackson KJ; Hammond JM; Deveson IW; David C; Lemberg DA; Gupta N; Fuentes-Bolanos N; Mustjoki S; Hwa V; Tangye SG; Gray PE; Siggs OM, Sequential mosaic variants in KRAS and STAT5B associated with a mixed phenotype of two acquired errors of immunity, http://dx.doi.org/10.1101/2024.08.07.24311150

Li M; Safavi A; Samir J; Louie R; Roohparvar Basmenj E; Bonomi M; Adikari T; Gloss B; Xing J; Jackson K; Calcino A; Suan D; Vaira V; Milthorpe C; Hardy M; Masle-Farquhar E; Read S; Field M; Elli L; Lenti MV; Di Sabatino A; Ciccocioppo R; Tye-Din JA; Ahlenstiel G; Goodnow CC; Singh M; Luciani F, Single-cell multi-omics maps clonal IEL expansion and epithelial remodelling in refractory coeliac disease, http://dx.doi.org/10.64898/2026.08.30.747985

Masle-Farquhar E; Jackson KJL; Peters TJ; Al-Eryani G; Singh M; Payne KJ; Rao G; Apps G; Kingham J; Jara CJ; Skvortsova K; Swarbrick A; S. C; Suan D; Uzel G; Chua I; Leiding JW; Heiskanen K; Preece K; Kainulainen L; O’Sullivan M; Cooper MA; Seppänen MRJ; Mustjoki S; Brothers S; Vogel TP; Brink R; Tangye SG; Reed JH; Goodnow CC, STAT3 gain-of-function mutations connect leukemia with autoimmune disease by pathological dysregulation of NKG2Dhi CD8 killer T cells, http://dx.doi.org/10.1101/2022.02.11.480027

Masle-Farquhar E; Peters TJ; Miosge LA; Parish IA; Weigel C; Oakes CC; Reed JH; Goodnow CC, Uncontrolled CD21low age-associated and B1 B cell accumulation caused by failure of an EGR2/3 tolerance checkpoint, http://dx.doi.org/10.1101/2021.07.01.450650


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