By Professor Sally Dunwoodie

Preprints

, 2025, Impaired yolk sac NAD metabolism disrupts murine embryogenesis with relevance to human birth defects, http://dx.doi.org/10.7554/eLife.97649

Bozon K; Cuny H; Sheng DZ; Martin EMMA; Sipka A; Young P; Humphreys DT; Dunwoodie SL, 2025, Impaired yolk sac NAD metabolism disrupts murine embryogenesis with relevance to human birth defects, http://dx.doi.org/10.7554/elife.97649.2

Bozon K; Cuny H; Sheng DZ; Martin EMMA; Young P; Humphreys DT; Dunwoodie SL, 2024, Impaired yolk sac NAD metabolism disrupts murine embryogenesis with relevance to human birth defects, http://dx.doi.org/10.7554/elife.97649.1

Page DJ; Miossec MJ; Williams SG; Fotiou E; Monaghan RM; Cordell HJ; Sutcliffe L; Topf A; Bourgey M; Bourque G; Eveleigh R; Dunwoodie SL; Winlaw DS; Bhattacharya S; Breckpot J; Devriendt K; Gewillig M; Brook D; Setchfield K; Bu’Lock FA; O’Sullivan J; Stuart G; Bezzina C; Mulder BJM; Postma AV; Bentham JR; Baron M; Bhaskar SS; Black GC; Newman WG; Hentges KE; Lathrop M; Santibanez-Koref M; Keavney BD, 2018, Deleterious genetic variants in NOTCH1 are a major contributor to the incidence of non-syndromic Tetralogy of Fallot, http://dx.doi.org/10.1101/300905

Shen S; Werner T; Lukowski SW; Andersen S; Sun Y; Shim WJ; Mizikovsky D; Kobayashi S; Outhwaite J; Chiu HS; Chen X; Chapman G; Martin EMMA; Xia D; Pham D; Su Z; Kim D; Yang P; Tan MC; Sinniah E; Zhao Q; Negi S; Redd MA; Powell JE; Dunwoodie SL; Tam PPL; Bodén M; Ho JWK; Nguyen Q; Palpant NJ, A pluripotent stem cell atlas of multilineage differentiation reveals TMEM88 as a developmental regulator of mammalian blood pressure, http://dx.doi.org/10.1101/2022.10.12.511862

Gudkov M; Thibaut L; Monger S; Das D; group CHDSS; Winlaw DS; Dunwoodie SL; Giannoulatou E, Benchmarking of variant pathogenicity prediction methods using a population genetics approach, http://dx.doi.org/10.1101/2025.03.16.643565

Thompson J-L; Das D; Dunwoodie SL; Giannoulatou E, HeartVar: An LLM-Assisted Tool for Clinical Classification of Variants in Cardiovascular Disease Cohorts, http://dx.doi.org/10.64898/2026.09.10.750569

Bozon K; Cuny H; Sheng DZ; Martin EMMA; Sipka A; Young P; Humphreys DT; Dunwoodie SL, Impaired yolk sac NAD metabolism disrupts murine embryogenesis with relevance to human birth defects, http://dx.doi.org/10.1101/2024.05.07.592899

Wiszniak S; Alankarage D; Lohraseb I; Marchant C; Secker G; Parker W; Toubia J; White M; Piltz S; Tondl M; Giannoulatou E; Winlaw D; Blue GM; Group CHDS; Tam PPL; Thomas P; Harvey N; Dunwoodie SL; Schwarz Q, Neural crest cell derived DKK1 modulates Wnt signalling in the second heart field to orchestrate cardiac outflow tract development, http://dx.doi.org/10.1101/2025.03.27.645622

Ward AO; Schonrock N; McCann AJ; Phanor SK; Kock KH; Kurland JV; Wu F; Murray NJ; Walshe J; Alankarage D; Dunwoodie SL; Meunier FA; Francois M; Bulyk ML; Ramialison M; Harvey RP, NKX2-5 congenital heart disease mutations show diverse loss and gain of epigenomic, biochemical and chromatin search functions underpinning pathogenicity, http://dx.doi.org/10.1101/2025.06.20.659510

Marjaneh M; Kirk EP; Patrick R; Alankerage D; Humphreys DT; Del Monte-Nieto G; Cornejo-Paramo P; Janbandhu V; Doan TB; Dunwoodie SL; Wong ES; Moran C; Martin ICA; Thomson PC; Harvey RP, Quantitative trait and transcriptome analysis of genetic complexity underpinning cardiac interatrial septation in mice using an advanced intercross line, http://dx.doi.org/10.1101/2022.10.31.514499

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