Browse by Aston Author

2024

Casey, Ruth T., Hendriks, Emile, Deal, Cheri, Waguespack, Steven G., Wiegering, Verena, Redlich, Antje, Akker, Scott, Prasad, Rathi, Fassnacht, Martin, Clifton-Bligh, Roderick, Amar, Laurence, Bornstein, Stefan, Canu, Letizia, Charmandari, Evangelia, Chrisoulidou, Alexandra, Freixes, Maria Currás, de Krijger, Ronald, de Sanctis, Luisa, Fojo, Antonio, Ghia, Amol J., Huebner, Angela, Kosmoliaptsis, Vasilis, Kuehlen, Michaela, Raffaelli, Marco, Lussey-Lepoutre, Charlotte, Marks, Stephen D., Nilubol, Naris, Parasiliti-Caprino, Mirko, Timmers, Henri H.J.L.M., Zietlow, Anna Lena, Robledo, Mercedes, Gimenez-Roqueplo, Anne Paule, Grossman, Ashley B., Taïeb, David, Maher, Eamonn R., Lenders, Jacques W.M., Eisenhofer, Graeme, Jimenez, Camilo, Pacak, Karel and Pamporaki, Christina (2024). International consensus statement on the diagnosis and management of phaeochromocytoma and paraganglioma in children and adolescents. Nature Reviews Endocrinology, 20 (12), pp. 729-748.

Mackay, Deborah J. G., Gazdagh, Gabriella, Monk, David, Brioude, Frederic, Giabicani, Eloise, Krzyzewska, Izabela M., Kalish, Jennifer M., Maas, Saskia M., Kagami, Masayo, Beygo, Jasmin, Kahre, Tiina, Tenorio-Castano, Jair, Ambrozaitytė, Laima, Burnytė, Birutė, Cerrato, Flavia, Davies, Justin H., Ferrero, Giovanni Battista, Fjodorova, Olga, Manero-Azua, Africa, Pereda, Arrate, Russo, Silvia, Tannorella, Pierpaola, Temple, Karen I., Õunap, Katrin, Riccio, Andrea, de Nanclares, Guiomar Perez, Maher, Eamonn R., Lapunzina, Pablo, Netchine, Irène, Eggermann, Thomas, Bliek, Jet and Tümer, Zeynep (2024). Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis. Clinical epigenetics, 16 (1),

Zhang, Huairen, Andreou, Avgi, Bhatt, Rupesh, Whitworth, James, Yngvadottir, Bryndis and Maher, Eamonn R. (2024). Characteristics, aetiology and implications for management of multiple primary renal tumours: a systematic review. European Journal of Human Genetics, 32 (8), pp. 887-894.

Geilswijk, Marianne, Genuardi, Maurizio, Woodward, Emma R., Nightingale, Katie, Huber, Jazzmin, Madsen, Mia Gebauer, Liekelema-van der Heij, Dieke, Lisseman, Ian, Marlé-Ballangé, Jenny, McCarthy, Cormac, Menko, Fred H., van Moorselaar, R Jeroen A., Radzikowska, Elzbieta, Richard, Stéphane, Rajan, Neil, Sommerlund, Mette, Wetscherek, Maria T. A., Di Donato, Nataliya, Maher, Eamonn R. and Brunet, Joan (2024). ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome. European Journal of Human Genetics ,

Maher, Eamonn R. and RaDaR consortium (2024). Description and Cross-Sectional Analyses of 25,880 Adults and Children in the UK National Registry of Rare Kidney Diseases Cohort. Kidney International Reports, 9 (7), pp. 2067-2083.

Wong, Katie, Pitcher, David, Braddon, Fiona, Downward, Lewis, Steenkamp, Retha, Annear, Nicholas, Barratt, Jonathan, Bingham, Coralie, Chrysochou, Constantina, Coward, Richard J., Game, David, Griffin, Sian, Hall, Matt, Johnson, Sally, Kanigicherla, Durga, Karet Frankl, Fiona, Kavanagh, David, Kerecuk, Larissa, Maher, Eamonn, Moochhala, Shabbir, Pinney, Jenny, Sayer, John A., Simms, Roslyn, Sinha, Smeeta, Srivastava, Shalabh, Tam, Frederick W.K., Turner, Andrew Neil, Walsh, Stephen B., Waters, Aoife, Wilson, Patricia, Wong, Edwin, Taylor, Christopher Mark, Nitsch, Dorothea, Saleem, Moin, Bockenhauer, Detlef, Bramham, Kate and Gale, Daniel P. (2024). Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort. The Lancet, 403 (10433), pp. 1279-1289.

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.

Sonner, Sarah, Reilly, Kelly, Woolf, Adrian S., Chandler, Natalie, Kilby, Mark D., Maher, Eamonn R., Flanagan, Cheryl, McKnight, Amy Jayne and Mone, Fionnuala (2024). When should we offer antenatal sequencing for urinary tract malformations? A systematic review, cohort study and meta-analysis. Prenatal diagnosis, 44 (2), pp. 187-195.

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.

2023

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.

2022

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.