Research output per year
Research output per year
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Dive into the research topics where Eamonn Maher is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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Paediatric research sets new standards for therapy in paediatric and adult cholestasis
Jeyaraj, R., Maher, E. R. & Kelly, D., Jan 2024, In: The Lancet. Child & adolescent health. 8, 1, p. 75-84 10 p.Research output: Contribution to journal › Review article › peer-review
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Wilms tumour resulting from paternal transmission of a TRIM28 pathogenic variant - A first report
Whitworth, J., Armstrong, R. & Maher, E. R., Mar 2024, In: European Journal of Human Genetics. 32, 3, p. 361-364 4 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile -
Clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants
Taïeb, D., Wanna, G. B., Ahmad, M., Lussey-Lepoutre, C., Perrier, N. D., Nölting, S., Amar, L., Timmers, H. J. L. M., Schwam, Z. G., Estrera, A. L., Lim, M., Pollom, E. L., Vitzthum, L., Bourdeau, I., Casey, R. T., Castinetti, F., Corssmit, E. P. M., Clifton-Bligh, R., de Krijger, R. R., Del Rivero, J., & 23 others, May 2023, In: The Lancet Diabetes and Endocrinology. 11, 5, p. 345-361 17 p.Research output: Contribution to journal › Review article › peer-review
Open Access -
Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders
Lee, S., Menzies, L., Hay, E., Ochoa, E., Docquier, F., Rodger, F., Deshpande, C., Foulds, N. C., Jacquemont, S., Jizi, K., Kiep, H., Kraus, A., Löhner, K., Morrison, P. J., Popp, B., Richardson, R., van Haeringen, A., Martin, E., Toribio, A., Li, F., & 3 others, 15 Nov 2023, In: Human Molecular Genetics. 32, 22, p. 3123-3134 12 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile -
Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome
Lee, S., Ochoa, E., Badura-Stronka, M., Donnelly, D., Lederer, D., Lynch, S. A., Gardham, A., Morton, J., Stewart, H., Docquier, F., Rodger, F., Martin, E., Toribio, A., Maher, E. R. & Balasubramanian, M., Sept 2023, In: European Journal of Human Genetics. 31, 9, p. 1040-1047 8 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile