Hypoxia, Hypoxia-inducible Transcription Factors, and Renal Cancer
Schödel, Johannes, Grampp, Steffen, Maher, Eamonn R, Moch, Holger, Ratcliffe, Peter J, Russo, Paul, Mole, David R
Published in European urology (01.04.2016)
Published in European urology (01.04.2016)
Get full text
Journal Article
The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity
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
Published in Cell (25.08.2016)
Published in Cell (25.08.2016)
Get full text
Journal Article
Familial Kidney Cancer: Implications of New Syndromes and Molecular Insights
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.
Published in European urology (01.12.2019)
Published in European urology (01.12.2019)
Get full text
Journal Article
OTULIN deficiency in ORAS causes cell type‐specific LUBAC degradation, dysregulated TNF signalling and cell death
Damgaard, Rune Busk, Elliott, Paul R, Swatek, Kirby N, Maher, Eamonn R, Stepensky, Polina, Elpeleg, Orly, Komander, David, Berkun, Yackov
Published in EMBO molecular medicine (01.03.2019)
Published in EMBO molecular medicine (01.03.2019)
Get full text
Journal Article
Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment
Menko, Fred H., Maher, Eamonn R., Schmidt, Laura S., Middelton, Lindsay A., Aittomäki, Kristiina, Tomlinson, Ian, Richard, Stéphane, Linehan, W. Marston
Published in Familial cancer (01.12.2014)
Published in Familial cancer (01.12.2014)
Get full text
Journal Article
Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups
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.
Published in American journal of medical genetics. Part A (01.09.2016)
Published in American journal of medical genetics. Part A (01.09.2016)
Get full text
Journal Article
Elongin C (ELOC/TCEB1)-associated von Hippel–Lindau disease
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
Published in Human molecular genetics (23.08.2022)
Published in Human molecular genetics (23.08.2022)
Get full text
Journal Article
Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad
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
Published in Endocrine-related cancer (01.08.2014)
Published in Endocrine-related cancer (01.08.2014)
Get full text
Journal Article
CDKN1C mutations: two sides of the same coin
Eggermann, Thomas, Binder, Gerhard, Brioude, Frédéric, Maher, Eamonn R, Lapunzina, Pablo, Cubellis, Maria Vittoria, Bergadá, Ignacio, Prawitt, Dirk, Begemann, Matthias
Published in Trends in molecular medicine (01.11.2014)
Published in Trends in molecular medicine (01.11.2014)
Get full text
Journal Article
Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome)
Meyer, Esther, Lim, Derek, Pasha, Shanaz, Tee, Louise J, Rahman, Fatimah, Yates, John R W, Woods, C Geoffrey, Reik, Wolf, Maher, Eamonn R
Published in PLoS genetics (01.03.2009)
Published in PLoS genetics (01.03.2009)
Get full text
Journal Article
Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes
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
Published in Nature communications (21.08.2017)
Published in Nature communications (21.08.2017)
Get full text
Journal Article
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 burden in the family
Evans, D Gareth, Shenton, Andrew, Woodward, Emma, Lalloo, Fiona, Howell, Anthony, Maher, Eamonn R
Published in BMC cancer (30.05.2008)
Published in BMC cancer (30.05.2008)
Get full text
Journal Article
Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility
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
Published in Nature genetics (01.03.2012)
Published in Nature genetics (01.03.2012)
Get full text
Journal Article
Predisposition to cancer in children and adolescents
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
Published in The lancet child & adolescent health (01.02.2021)
Published in The lancet child & adolescent health (01.02.2021)
Get full text
Journal Article
EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome
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
Published in European journal of human genetics : EJHG (01.10.2016)
Published in European journal of human genetics : EJHG (01.10.2016)
Get full text
Journal Article
ImprintSeq, a novel tool to interrogate DNA methylation at human imprinted regions and diagnose multilocus imprinting disturbance
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.
Published in Genetics in medicine (01.02.2022)
Published in Genetics in medicine (01.02.2022)
Get full text
Journal Article
Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review
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
Published in The journal of clinical endocrinology and metabolism (01.11.2017)
Published in The journal of clinical endocrinology and metabolism (01.11.2017)
Get full text
Journal Article