Hypoxia, Hypoxia-inducible Transcription Factors, and Renal Cancer von Schödel, Johannes, Grampp, Steffen, Maher, Eamonn R, Moch, Holger, Ratcliffe, Peter J, Russo, Paul, Mole, David R

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The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity von Damgaard, Rune Busk, Walker, Jennifer A., Marco-Casanova, Paola, Morgan, Neil V., Titheradge, Hannah L., Elliott, Paul R., McHale, Duncan, Maher, Eamonn R., McKenzie, Andrew N.J., Komander, David

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Familial Kidney Cancer: Implications of New Syndromes and Molecular Insights von Carlo, Maria I., Hakimi, A. Ari, Stewart, Grant D., Bratslavsky, Gennady, Brugarolas, James, Chen, Ying-Bei, Linehan, W. Marston, Maher, Eamonn R., Merino, Maria J., Offit, Kenneth, Reuter, Victor E., Shuch, Brian, Coleman, Jonathan A.

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Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment von Menko, Fred H., Maher, Eamonn R., Schmidt, Laura S., Middelton, Lindsay A., Aittomäki, Kristiina, Tomlinson, Ian, Richard, Stéphane, Linehan, W. Marston

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OTULIN deficiency in ORAS causes cell type‐specific LUBAC degradation, dysregulated TNF signalling and cell death von Damgaard, Rune Busk, Elliott, Paul R, Swatek, Kirby N, Maher, Eamonn R, Stepensky, Polina, Elpeleg, Orly, Komander, David, Berkun, Yackov

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VHL, the story of a tumour suppressor gene von Gossage, Lucy, Eisen, Tim, Maher, Eamonn R.

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Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups von Maas, Saskia M., Vansenne, Fleur, Kadouch, Daniel J. M., Ibrahim, Abdulla, Bliek, Jet, Hopman, Saskia, Mannens, Marcel M., Merks, Johannes H. M., Maher, Eamonn R., Hennekam, Raoul C.

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Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome) von Meyer, Esther, Lim, Derek, Pasha, Shanaz, Tee, Louise J, Rahman, Fatimah, Yates, John R W, Woods, C Geoffrey, Reik, Wolf, Maher, Eamonn R

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Hereditary renal cell carcinoma syndromes: diagnosis, surveillance and management von Maher, Eamonn R.

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Elongin C (ELOC/TCEB1)-associated von Hippel–Lindau disease von Andreou, Avgi, Yngvadottir, Bryndis, Bassaganyas, Laia, Clark, Graeme, Martin, Ezequiel, Whitworth, James, Cornish, Alex J, Houlston, Richard S, Rich, Philip, Egan, Catherine, Hodgson, Shirley V, Warren, Anne Y, Snape, Katie, Maher, Eamonn R

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Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad von Haller, Florian, Moskalev, Evgeny A, Faucz, Fabio R, Barthelmeß, Sarah, Wiemann, Stefan, Bieg, Matthias, Assie, Guillaume, Bertherat, Jerome, Schaefer, Inga-Marie, Otto, Claudia, Rattenberry, Eleanor, Maher, Eamonn R, Ströbel, Philipp, Werner, Martin, Carney, J Aidan, Hartmann, Arndt, Stratakis, Constantine A, Agaimy, Abbas

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Imprinting and assisted reproductive technology von Maher, Eamonn R

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CDKN1C mutations: two sides of the same coin von Eggermann, Thomas, Binder, Gerhard, Brioude, Frédéric, Maher, Eamonn R, Lapunzina, Pablo, Cubellis, Maria Vittoria, Bergadá, Ignacio, Prawitt, Dirk, Begemann, Matthias

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Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes von Narasimhan, Vagheesh M., Rahbari, Raheleh, Scally, Aylwyn, Wuster, Arthur, Mason, Dan, Xue, Yali, Wright, John, Trembath, Richard C., Maher, Eamonn R., van Heel, David A., Auton, Adam, Hurles, Matthew E., Tyler-Smith, Chris, Durbin, Richard

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Penetrance estimates for BRCA1 and BRCA2 based on genetic testing in a Clinical Cancer Genetics service setting: risks of breast/ovarian cancer quoted should reflect the cancer bur... von Evans, D Gareth, Shenton, Andrew, Woodward, Emma, Lalloo, Fiona, Howell, Anthony, Maher, Eamonn R

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Predisposition to cancer in children and adolescents von Kratz, Christian P, Jongmans, Marjolijn C, Cavé, Hélène, Wimmer, Katharina, Behjati, Sam, Guerrini-Rousseau, Lea, Milde, Till, Pajtler, Kristian W, Golmard, Lisa, Gauthier-Villars, Marion, Jewell, Rosalyn, Duncan, Catriona, Maher, Eamonn R, Brugieres, Laurence, Pritchard-Jones, Kathy, Bourdeaut, Franck

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Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility von Astuti, Dewi, Morris, Mark R, Cooper, Wendy N, Staals, Raymond H J, Wake, Naomi C, Fews, Graham A, Gill, Harmeet, Gentle, Dean, Shuib, Salwati, Ricketts, Christopher J, Cole, Trevor, van Essen, Anthonie J, van Lingen, Richard A, Neri, Giovanni, Opitz, John M, Rump, Patrick, Stolte-Dijkstra, Irene, Müller, Ferenc, Pruijn, Ger J M, Latif, Farida, Maher, Eamonn R

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EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome von Eggermann, Katja, Bliek, Jet, Brioude, Frédéric, Algar, Elizabeth, Buiting, Karin, Russo, Silvia, Tümer, Zeynep, Monk, David, Moore, Gudrun, Antoniadi, Thalia, Macdonald, Fiona, Netchine, Irène, Lombardi, Paolo, Soellner, Lukas, Begemann, Matthias, Prawitt, Dirk, Maher, Eamonn R, Mannens, Marcel, Riccio, Andrea, Weksberg, Rosanna, Lapunzina, Pablo, Grønskov, Karen, Mackay, Deborah Jg, Eggermann, Thomas

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ImprintSeq, a novel tool to interrogate DNA methylation at human imprinted regions and diagnose multilocus imprinting disturbance von Ochoa, Eguzkine, Lee, Sunwoo, Lan-Leung, Benoit, Dias, Renuka P., Ong, Ken K., Radley, Jessica A., Pérez de Nanclares, Gustavo, Martinez, Rosa, Clark, Graeme, Martin, Ezequiel, Castaño, Luis, Bottolo, Leonardo, Maher, Eamonn R.

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Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review von Casey, Ruth T, Warren, Anne Y, Martin, Jose Ezequiel, Challis, Benjamin G, Rattenberry, Eleanor, Whitworth, James, Andrews, Katrina A, Roberts, Thomas, Clark, Graeme R, West, Hannah, Smith, Philip S, Docquier, France M, Rodger, Fay, Murray, Vicki, Simpson, Helen L, Wallis, Yvonne, Giger, Olivier, Tran, Maxine, Tomkins, Susan, Stewart, Grant D, Park, Soo-Mi, Woodward, Emma R, Maher, Eamonn R

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