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Publications

LoFTK: a framework for fully automated calculation of predicted Loss-of-Function variants and genes.

Alasiri A, Karczewski KJ, Cole B, et al. LoFTK: a framework for fully automated calculation of predicted Loss-of-Function variants and genes. BioData mining. 2023;16(1):3. doi:10.1186/s13040-023-00321-5

Plasma protein and venous thromboembolism: prospective cohort and mendelian randomisation analyses.

Yuan S, Titova OE, Zhang K, et al. Plasma protein and venous thromboembolism: prospective cohort and mendelian randomisation analyses. British journal of haematology. 2023. doi:10.1111/bjh.18679

Arginine metabolism regulates human erythroid differentiation through hypusination of eIF5A.

Gonzalez-Menendez P, Phadke I, Olive ME, et al. Arginine metabolism regulates human erythroid differentiation through hypusination of eIF5A. Blood. 2023. doi:10.1182/blood.2022017584

Exploiting somatic mutations to decipher human blood production: a natural lineage-tracing strategy.

Bloom M, Malouf C, Rodriguez-Fraticelli A, Wilkinson AC, Sankaran VG, Cvejic A. Exploiting somatic mutations to decipher human blood production: a natural lineage-tracing strategy. Experimental hematology. 2023;121:2-5. doi:10.1016/j.exphem.2023.01.005

Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies.

Lekstrom-Himes J, Brooks PJ, Koeberl DD, et al. Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies. American journal of medical genetics. Part C, Seminars in medical genetics. 2023;193(1):30-43. doi:10.1002/ajmg.c.32031

Genome-wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome.

Tsetsos F, Topaloudi A, Jain P, et al. Genome-wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome. Biological psychiatry. 2023. doi:10.1016/j.biopsych.2023.01.023

Circulating citric acid cycle metabolites and risk of cardiovascular disease in the PREDIMED study.

Santos JL, Ruiz-Canela M, Razquin C, et al. Circulating citric acid cycle metabolites and risk of cardiovascular disease in the PREDIMED study. Nutrition, metabolism, and cardiovascular diseases : NMCD. 2023;33(4):835-843. doi:10.1016/j.numecd.2023.01.002

Interpreting variants in genes affected by clonal hematopoiesis in population data.

Gudmundsson S, Carlston CM, O’Donnell-Luria A. Interpreting variants in genes affected by clonal hematopoiesis in population data. Human genetics. 2023. doi:10.1007/s00439-023-02526-4

Mitochondrial fusion is a therapeutic vulnerability of acute myeloid leukemia.

Larrue C, Mouche S, Lin S, et al. Mitochondrial fusion is a therapeutic vulnerability of acute myeloid leukemia. Leukemia. 2023;37(4):765-775. doi:10.1038/s41375-023-01835-x

Oxytocin vs. placebo effects on intrusive memory consolidation using a trauma film paradigm: a randomized, controlled experimental study in healthy women.

Maslahati T, Wingenfeld K, Hellmann-Regen J, et al. Oxytocin vs. placebo effects on intrusive memory consolidation using a trauma film paradigm: a randomized, controlled experimental study in healthy women. Translational psychiatry. 2023;13(1):42. doi:10.1038/s41398-023-02339-z