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Whitworth, James, Armstrong, Ruth and Maher, Eamonn R (2024). Wilms tumour resulting from paternal transmission of a TRIM28 pathogenic variant - A first report. European Journal of Human Genetics, 32 (3), pp. 361-364.

Jeyaraj, Rebecca, Maher, Eamonn R. and Kelly, Deirdre (2024). Paediatric research sets new standards for therapy in paediatric and adult cholestasis. The Lancet. Child & adolescent health, 8 (1), pp. 75-84.

Sonner, Sarah, Reilly, Kelly, Woolf, Adrian S., Chandler, Natalie, Kilby, Mark D., Maher, Eamonn R., Flanagan, Cheryl, McKnight, Amy Jayne and Mone, Fionnuala (2023). When should we offer antenatal sequencing for urinary tract malformations? A systematic review, cohort study and meta-analysis. Prenatal diagnosis ,

Lee, Sunwoo, Menzies, Lara, Hay, Eleanor, Ochoa, Eguzkine, Docquier, France, Rodger, Fay, Deshpande, Charu, Foulds, Nicola C., Jacquemont, Sébastien, Jizi, Khadije, Kiep, Henriette, Kraus, Alison, Löhner, Katharina, Morrison, Patrick J., Popp, Bernt, Richardson, Ruth, van Haeringen, Arie, Martin, Ezequiel, Toribio, Ana, Li, Fudong, Jones, Wendy D., Sansbury, Francis H. and Maher, Eamonn R. (2023). Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders. Human Molecular Genetics, 32 (22), pp. 3123-3134.

Lee, Sunwoo, Ochoa, Eguzkine, Badura-Stronka, Magdalena, Donnelly, Deirdre, Lederer, Damien, Lynch, Sally A., Gardham, Alice, Morton, Jenny, Stewart, Helen, Docquier, France, Rodger, Fay, Martin, Ezequiel, Toribio, Ana, Maher, Eamonn R. and Balasubramanian, Meena (2023). Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome. European Journal of Human Genetics, 31 (9), pp. 1040-1047.

Bilo, Larissa, Ochoa, Eguzkine, Lee, Sunwoo, Dey, Daniela, Kurth, Ingo, Kraft, Florian, Rodger, Fay, Docquier, France, Toribio, Ana, Bottolo, Leonardo, Binder, Gerhard, Fekete, György, Elbracht, Miriam, Maher, Eamonn R., Begemann, Matthias and Eggermann, Thomas (2023). Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach. Clinical epigenetics, 15 (1),

Hanson, Helen, Durkie, Miranda, Lalloo, Fiona, Izatt, Louise, McVeigh, Terri P., Cook, Jackie A., Brewer, Carole, Drummond, James, Cranston, Treena, Butler, Samantha, Casey, Ruth, Tan, Tricia, Morganstein, Daniel, Eccles, Diana M., Tischkowitz, Marc, Turnbull, Clare, Woodward, Emma Roisin and Maher, Eamonn R. (2023). UK recommendations for SDHA germline genetic testing and surveillance in clinical practice. Journal of Medical Genetics, 60 (2), pp. 107-111.

Reid, Kimberly M., Spaull, Robert, Salian, Smrithi, Barwick, Katy, Meyer, Esther, Zhen, Juan, Hirata, Hiromi, Sheipouri, Diba, Benkerroum, Hind, Gorman, Kathleen M., Papandreou, Apostolos, Simpson, Michael A., Hirano, Yoshinobu, Farabella, Irene, Topf, Maya, Grozeva, Detelina, Carss, Keren, Smith, Martin, Pall, Hardev, Lunt, Peter, De Gressi, Susanna, Kamsteeg, Erik-Jan, Haack, Tobias B, Carr, Lucinda, Guerreiro, Rita, Bras, Jose, Maher, Eamonn R., Vandenberg, Robert J., Raymond, F. Lucy, Chong, Wui K, Sudhakar, Sniya, Mankad, Kshitij, Reith, Maarten E, Campeau, Philippe M., Harvey, Robert J. and Kurian, Manju A. (2022). MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia. Movement Disorders, 37 (10), pp. 2139-2146.

Yngvadottir, Bryndis, Andreou, Avgi, Bassaganyas, Laia, Larionov, Alexey, Cornish, Alex J., Chubb, Daniel, Saunders, Charlie N., Smith, Philip S., Zhang, Huairen, Cole, Yasemin, Larkin, James, Browning, Lisa, Turajlic, Samra, Litchfield, Kevin, Houlston, Richard S. and Maher, Eamonn R. (2022). Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases. Human Molecular Genetics, 31 (17), pp. 3001-3011.

Ben Aim, Laurene, Maher, Eamonn R., Cascon, Alberto, Barlier, Anne, Giraud, Sophie, Ercolino, Tonino, Pigny, Pascal, Clifton-Bligh, Roderick J., Mirebeau-Prunier, Delphine, Mohamed, Amira, Favier, Judith, Gimenez-Roqueplo, Anne-Paule, Schiavi, Francesca, Toledo, Rodrigo A., Dahia, Patricia L., Robledo, Mercedes and Burnichon, Nelly (2022). International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma. Journal of Medical Genetics, 59 (8), pp. 785-792.

Eggermann, Thomas, Maher, Eamonn R., Kratz, Christian P. and Prawitt, Dirk (2022). Molecular Basis of Beckwith-Wiedemann Syndrome Spectrum with Associated Tumors and Consequences for Clinical Practice. Cancers, 14 (13),

Maher, Eamonn R., Adlard, Julian, Barwell, Julian, Brady, Angela F., Brennan, Paul, Cook, Jackie, Crawford, Gillian S., Dabir, Tabib, Davidson, Rosemarie, Dyer, Rebecca, Harrison, Rachel, Forde, Claire, Halliday, Dorothy, Hanson, Helen, Hay, Eleanor, Higgs, Jenny, Jones, Mari, Lalloo, Fiona, Miedzybrodzka, Zosia, Ong, Kai Ren, Pelz, Frauke, Ruddy, Deborah, Snape, Katie, Whitworth, James and Sandford, Richard N. (2022). Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service. British Journal of Cancer, 126 (9), pp. 1339-1345.

Lee, Sunwoo, Ochoa, Eguzkine, Barwick, Katy, Cif, Laura, Rodger, Fay, Docquier, France, Pérez-Dueñas, Bélen, Clark, Graeme, Martin, Ezequiel, Banka, Siddharth, Kurian, Manju A. and Maher, Eamonn R. (2022). Comparison of methylation episignatures in KMT2B- and KMT2D-related human disorders. Epigenomics, 14 (9), pp. 537-547.

Eggermann, Thomas, Yapici, Elzem, Bliek, Jet, Pereda, Arrate, Begemann, Matthias, Russo, Silvia, Tannorella, Pierpaola, Calzari, Luciano, de Nanclares, Guiomar Perez, Lombardi, Paola, Temple, I. Karen, Mackay, Deborah, Riccio, Andrea, Kagami, Masayo, Ogata, Tsutomu, Lapunzina, Pablo, Monk, David, Maher, Eamonn R. and Tümer, Zeynep (2022). Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences. Clinical epigenetics, 14 (1),

McGuigan, Anthony, Whitworth, James, Andreou, Avgi, Hearn, Timothy, Tischkowitz, Marc and Maher, Eamonn R. (2022). Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update. European Journal of Human Genetics, 30 (3), pp. 265-270.