263 results on '"Maher, Eamonn"'
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2. International consensus statement on the diagnosis and management of phaeochromocytoma and paraganglioma in children and adolescents
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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, Kuhlen, 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
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- 2024
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3. Characteristics, aetiology and implications for management of multiple primary renal tumours: a systematic review
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Zhang, Huairen, Andreou, Avgi, Bhatt, Rupesh, Whitworth, James, Yngvadottir, Bryndis, and Maher, Eamonn R.
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- 2024
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4. Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis
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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
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- 2024
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5. PD-1 Inhibitor Induced Hypertrophic Lichen Planus: A Case Report
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Lim, Olivia, Maher, Eamonn, and Miller, Daniel D.
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- 2024
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6. Author Correction: International consensus statement on the diagnosis and management of phaeochromocytoma and paraganglioma in children and adolescents
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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, Kuhlen, 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
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- 2024
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7. Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert Consensus statement
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Taïeb, David, Nölting, Svenja, Perrier, Nancy D., Fassnacht, Martin, Carrasquillo, Jorge A., Grossman, Ashley B., Clifton-Bligh, Roderick, Wanna, George B., Schwam, Zachary G., Amar, Laurence, Bourdeau, Isabelle, Casey, Ruth T., Crona, Joakim, Deal, Cheri L., Del Rivero, Jaydira, Duh, Quan-Yang, Eisenhofer, Graeme, Fojo, Tito, Ghayee, Hans K., Gimenez-Roqueplo, Anne-Paule, Gill, Antony J., Hicks, Rodney, Imperiale, Alessio, Jha, Abhishek, Kerstens, Michiel N., de Krijger, Ronald R., Lacroix, André, Lazurova, Ivica, Lin, Frank I., Lussey-Lepoutre, Charlotte, Maher, Eamonn R., Mete, Ozgur, Naruse, Mitsuhide, Nilubol, Naris, Robledo, Mercedes, Sebag, Frédéric, Shah, Nalini S., Tanabe, Akiyo, Thompson, Geoffrey B., Timmers, Henri J. L. M., Widimsky, Jiri, Young, Jr, William J., Meuter, Leah, Lenders, Jacques W. M., and Pacak, Karel
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- 2024
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8. Description and Cross-Sectional Analyses of 25,880 Adults and Children in the UK National Registry of Rare Kidney Diseases Cohort
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Abat, Sharirose, Adalat, Shazia, Agbonmwandolor, Joy, Ahmad, Zubaidah, Alejmi, Abdulfattah, Almasarwah, Rashid, Annear, Nicholas, Asgari, Ellie, Ayers, Amanda, Baharani, Jyoti, Balasubramaniam, Gowrie, Kpodo, Felix Jo-Bamba, Bansal, Tarun, Barratt, Alison, Barratt, Jonathan, Bates, Megan, Bayne, Natalie, Bendle, Janet, Benyon, Sarah, Bergmann, Carsten, Bhandari, Sunil, Bingham, Coralie, Boddana, Preetham, Bond, Sally, Braddon, Fiona, Bramham, Kate, Branson, Angela, Brearey, Stephen, Brocklebank, Vicky, Budwal, Sharanjit, Byrne, Conor, Cairns, Hugh, Camilleri, Brian, Campbell, Gary, Capell, Alys, Carmody, Margaret, Carson, Marion, Cathcart, Tracy, Catley, Christine, Cesar, Karine, Chan, Melanie, Chea, Houda, Chess, James, Cheung, Chee Kay, Chick, Katy-Jane, Chitalia, Nihil, Christian, Martin, Chrysochou, Tina, Clark, Katherine, Clayton, Christopher, Clissold, Rhian, Cockerill, Helen, Coelho, Joshua, Colby, Elizabeth, Colclough, Viv, Conway, Eileen, Cook, H. Terence, Cook, Wendy, Cooper, Theresa, Coward, Richard J., Crosbie, Sarah, Cserep, Gabor, Date, Anjali, Davidson, Katherine, Davies, Amanda, Dhaun, Neeraj, Dhaygude, Ajay, Diskin, Lynn, Dixit, Abhijit, Doctolero, Eunice Ann, Dorey, Suzannah, Downard, Lewis, Drayson, Mark, Dreyer, Gavin, Dutt, Tina, Etuk, Kufreabasi, Evans, Dawn, Finch, Jenny, Flinter, Frances, Fotheringham, James, Francis, Lucy, Gale, Daniel P., Gallagher, Hugh, Game, David, Garcia, Eva Lozano, Gavrila, Madita, Gear, Susie, Geddes, Colin, Gilchrist, Mark, Gittus, Matt, Goggolidou, Paraskevi, Goldsmith, Christopher, Gooden, Patricia, Goodlife, Andrea, Goodwin, Priyanka, Grammatikopoulos, Tassos, Gray, Barry, Griffith, Megan, Gumus, Steph, Gupta, Sanjana, Hamilton, Patrick, Harper, Lorraine, Harris, Tess, Haskell, Louise, Hayward, Samantha, Hegde, Shivaram, Hendry, Bruce, Hewins, Sue, Hewitson, Nicola, Hillman, Kate, Hiremath, Mrityunjay, Howson, Alexandra, Htet, Zay, Huish, Sharon, Hull, Richard, Humphries, Alister, Hunt, David P.J., Hunter, Karl, Hunter, Samantha, Ijeomah-Orji, Marilyn, Inston, Nick, Jayne, David, Jenfa, Gbemisola, Jenkins, Alison, Johnson, Sally, Jones, Caroline A., Jones, Colin, Jones, Amanda, Jones, Rachel, Kamesh, Lavanya, Kanigicherla, Durga, Frankl, Fiona Karet, Karim, Mahzuz, Kaur, Amrit, Kavanagh, David, Kearley, Kelly, Kerecuk, Larissa, Khwaja, Arif, King, Garry, King, Grant, Kislowska, Ewa, Klata, Edyta, Kokocinska, Maria, Lambie, Mark, Lawless, Laura, Ledson, Thomas, Lennon, Rachel, Levine, Adam P., Maggie Lai, Ling Wai, Lipkin, Graham, Lovitt, Graham, Lyons, Paul, Mabillard, Holly, Mackintosh, Katherine, Mahdi, Khalid, Maher, Eamonn, Marchbank, Kevin J., Mark, Patrick B., Masoud, Sherry, Masunda, Bridgett, Mavani, Zainab, Mayfair, Jake, McAdoo, Stephen, Mckinnell, Joanna, Melhem, Nabil, Meyrick, Simon, Moochhala, Shabbir, Morgan, Putnam, Morgan, Ann, Muhammad, Fawad, Murray, Shona, Novobritskaya, Kristina, Ong, Albert CM., Oni, Louise, Osmaston, Kate, Padmanabhan, Neal, Parkes, Sharon, Patrick, Jean, Pattison, James, Paul, Riny, Percival, Rachel, Perkins, Stephen J., Persu, Alexandre, Petchey, William G., Pickering, Matthew C., Pinney, Jennifer, Pitcher, David, Plumb, Lucy, Plummer, Zoe, Popoola, Joyce, Post, Frank, Power, Albert, Pratt, Guy, Pusey, Charles, Rabara, Ria, Rabuya, May, Raju, Tina, Javier, Chadd, Roberts, Ian SD., Roufosse, Candice, Rumjon, Adam, Salama, Alan, Saleem, Moin, Sandford, R.N., Sandu, Kanwaljit S., Sarween, Nadia, Sayer, John A., Sebire, Neil, Selvaskandan, Haresh, Shah, Sapna, Sharma, Asheesh, Sharples, Edward J., Sheerin, Neil, Shetty, Harish, Shroff, Rukshana, Simms, Roslyn, Sinha, Manish, Sinha, Smeeta, Smith, Kerry, Smith, Lara, Srivastava, Shalabh, Steenkamp, Retha, Stott, Ian, Stroud, Katerina, Swift, Pauline, Szklarzewicz, Justyna, Tam, Fred, Tan, Kay, Taylor, Robert, Tischkowitz, Marc, Thomas, Kay, Tse, Yincent, Turnbull, Alison, Turner, A. Neil, Tyerman, Kay, Usher, Miranda, Venkat-Raman, Gopalakrishnan, Walker, Alycon, Walsh, Stephen B., Waters, Aoife, Watt, Angela, Webster, Phil, Wechalekar, Ashutosh, Welsh, Gavin Iain, West, Nicol, Wheeler, David, Wiles, Kate, Willcocks, Lisa, Williams, Angharad, Williams, Emma, Williams, Karen, Wilson, Deborah H., Wilson, Patricia D., Winyard, Paul, Wong, Edwin, Wong, Katie, Wood, Grahame, Woodward, Emma, Woodward, Len, Woolf, Adrian, Wright, David, Downward, Lewis, Griffin, Sian, Hall, Matt, Karet Frankl, Fiona, Maher, Eamonn R., Pinney, Jenny, Tam, Frederick W.K., Wilson, Patricia, Sy, Karla Therese L., Huang, Kui, Ye, Jamie, Nitsch, Dorothea, and Bockenhauer, Detlef
- Published
- 2024
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9. Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort
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Abat, Sharirose, Adalat, Shazia, Agbonmwandolor, Joy, Ahmad, Zubaidah, Alejmi, Abdulfattah, Almasarwah, Rashid, Annear, Nicholas, Asgari, Ellie, Ayers, Amanda, Baharani, Jyoti, Balasubramaniam, Gowrie, Kpodo, Felix, Bansal, Tarun, Barratt, Alison, Barratt, Jonathan, Bates, Megan, Bayne, Natalie, Bendle, Janet, Benyon, Sarah, Bergmann, Carsten, Bhandari, Sunil, Bingham, Coralie, Boddana, Preetham, Bond, Sally, Braddon, Fiona, Bramham, Kate, Branson, Angela, Brearey, Stephen, Brocklebank, Vicky, Budwal, Sharanjit, Byrne, Conor, Cairns, Hugh, Camilleri, Brian, Campbell, Gary, Capell, Alys, Carmody, Margaret, Carson, Marion, Cathcart, Tracy, Catley, Christine, Cesar, Karine, Chan, Melanie, Chea, Houda, Chess, James, Cheung, Chee Kay, Chick, Katy-Jane, Chitalia, Nihil, Christian, Martin, Chrysochou, Tina, Clark, Katherine, Clayton, Christopher, Clissold, Rhian, Cockerill, Helen, Coelho, Joshua, Colby, Elizabeth, Colclough, Viv, Conway, Eileen, Cook, H Terence, Cook, Wendy, Cooper, Theresa, Coward, Richard J, Crosbie, Sarah, Cserep, Gabor, Date, Anjali, Davidson, Katherine, Davies, Amanda, Dhaun, Neeraj, Dhaygude, Ajay, Diskin, Lynn, Dixit, Abhijit, Doctolero, Eunice, Dorey, Suzannah, Downard, Lewis, Drayson, Mark, Dreyer, Gavin, Dutt, Tina, Etuk, Kufreabasi, Evans, Dawn, Finch, Jenny, Flinter, Frances, Fotheringham, James, Francis, Lucy, Gale, Daniel P, Gallagher, Hugh, Game, David, Garcia, Eva, Gavrila, Madita, Gear, Susie, Geddes, Colin, Gilchrist, Mark, Gittus, Matt, Goggolidou, Paraskevi, Goldsmith, Christopher, Gooden, Patricia, Goodlife, Andrea, Goodwin, Priyanka, Grammatikopoulos, Tassos, Gray, Barry, Griffith, Megan, Gumus, Steph, Gupta, Sanjana, Hamilton, Patrick, Harper, Lorraine, Harris, Tess, Haskell, Louise, Hayward, Samantha, Hegde, Shivaram, Hendry, Bruce, Hewins, Sue, Hewitson, Nicola, Hillman, Kate, Hiremath, Mrityunjay, Howson, Alexandra, Htet, Zay, Huish, Sharon, Hull, Richard, Humphries, Alister, Hunt, David P J, Hunter, Karl, Hunter, Samantha, Ijeomah-Orji, Marilyn, Inston, Nick, Jayne, David, Jenfa, Gbemisola, Jenkins, Alison, Johnson, Sally, Jones, Caroline A, Jones, Colin, Jones, Amanda, Jones, Rachel, Kamesh, Lavanya, Kanigicherla, Durga, Karet Frankl, Fiona, Karim, Mahzuz, Kaur, Amrit, Kavanagh, David, Kearley, Kelly, Kerecuk, Larissa, Khwaja, Arif, King, Garry, King, Grant, Kislowska, Ewa, Klata, Edyta, Kokocinska, Maria, Lambie, Mark, Lawless, Laura, Ledson, Thomas, Lennon, Rachel, Levine, Adam P, Lai, Ling Wai Maggie, Lipkin, Graham, Lovitt, Graham, Lyons, Paul, Mabillard, Holly, Mackintosh, Katherine, Mahdi, Khalid, Maher, Eamonn, Marchbank, Kevin J, Mark, Patrick B, Masoud, Sherry, Masunda, Bridgett, Mavani, Zainab, Mayfair, Jake, McAdoo, Stephen, Mckinnell, Joanna, Melhem, Nabil, Meyrick, Simon, Moochhala, Shabbir, Morgan, Putnam, Morgan, Ann, Muhammad, Fawad, Murray, Shona, Novobritskaya, Kristina, Ong, Albert CM, Oni, Louise, Osmaston, Kate, Padmanabhan, Neal, Parkes, Sharon, Patrick, Jean, Pattison, James, Paul, Riny, Percival, Rachel, Perkins, Stephen J, Persu, Alexandre, Petchey, William G, Pickering, Matthew C, Pinney, Jennifer, Pitcher, David, Plumb, Lucy, Plummer, Zoe, Popoola, Joyce, Post, Frank, Power, Albert, Pratt, Guy, Pusey, Charles, Rabara, Ria, Rabuya, May, Raju, Tina, Javier, Chadd, Roberts, Ian S D, Roufosse, Candice, Rumjon, Adam, Salama, Alan, Saleem, Moin, Sandford, Richard, Sandu, Kanwaljit S, Sarween, Nadia, Sayer, John A, Sebire, Neil, Selvaskandan, Haresh, Sharma, Asheesh, Sharples, Edward J, Sheerin, Neil, Shetty, Harish, Shroff, Rukshana, Simms, Roslyn, Sinha, Manish, Sinha, Smeeta, Smith, Kerry, Smith, Lara, Srivastava, Shalabh, Steenkamp, Retha, Stott, Ian, Stroud, Katerina, Swift, Pauline, Szklarzewicz, Justyna, Tam, Fred, Tan, Kay, Taylor, Robert, Tischkowitz, Marc, Thomas, Kay, Tse, Yincent, Turnbull, Alison, Turner, A Neil, Tyerman, Kay, Usher, Miranda, Venkat-Raman, Gopalakrishnan, Walker, Alycon, Walsh, Stephen B, Waters, Aoife, Watt, Angela, Webster, Phil, Wechalekar, Ashutosh, Welsh, Gavin I, West, Nicol, Wheeler, David, Wiles, Kate, Willcocks, Lisa, Williams, Angharad, Williams, Emma, Williams, Karen, Wilson, Deborah H, Wilson, Patricia D, Winyard, Paul, Wong, Edwin, Wong, Katie, Wood, Grahame, Woodward, Emma, Woodward, Len, Woolf, Adrian, Wright, David, Downward, Lewis, Chrysochou, Constantina, Griffin, Sian, Hall, Matt, Maher, Eamonn R, Pinney, Jenny, Tam, Frederick W K, Turner, Andrew Neil, Wilson, Patricia, Taylor, Christopher Mark, Nitsch, Dorothea, and Bockenhauer, Detlef
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- 2024
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10. Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome
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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
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- 2023
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11. Imprinting disorders
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Eggermann, Thomas, Monk, David, de Nanclares, Guiomar Perez, Kagami, Masayo, Giabicani, Eloïse, Riccio, Andrea, Tümer, Zeynep, Kalish, Jennifer M., Tauber, Maithé, Duis, Jessica, Weksberg, Rosanna, Maher, Eamonn R., Begemann, Matthias, and Elbracht, Miriam
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- 2023
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12. Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach
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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
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- 2023
- Full Text
- View/download PDF
13. Paediatric research sets new standards for therapy in paediatric and adult cholestasis
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Jeyaraj, Rebecca, Maher, Eamonn R, and Kelly, Deirdre
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- 2024
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14. Clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants
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Taïeb, David, Wanna, George B, Ahmad, Maleeha, Lussey-Lepoutre, Charlotte, Perrier, Nancy D, Nölting, Svenja, Amar, Laurence, Timmers, Henri J L M, Schwam, Zachary G, Estrera, Anthony L, Lim, Michael, Pollom, Erqi Liu, Vitzthum, Lucas, Bourdeau, Isabelle, Casey, Ruth T, Castinetti, Frédéric, Clifton-Bligh, Roderick, Corssmit, Eleonora P M, de Krijger, Ronald R, Del Rivero, Jaydira, Eisenhofer, Graeme, Ghayee, Hans K, Gimenez-Roqueplo, Anne-Paule, Grossman, Ashley, Imperiale, Alessio, Jansen, Jeroen C, Jha, Abhishek, Kerstens, Michiel N, Kunst, Henricus P M, Liu, James K, Maher, Eamonn R, Marchioni, Daniele, Mercado-Asis, Leilani B, Mete, Ozgur, Naruse, Mitsuhide, Nilubol, Naris, Pandit-Taskar, Neeta, Sebag, Frédéric, Tanabe, Akiyo, Widimsky, Jiri, Meuter, Leah, Lenders, Jacques W M, and Pacak, Karel
- Published
- 2023
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15. ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1
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Brunet, Joan, Van Calenbergh, Frank, Cassiman, Catherine, Czech, Thomas, Gavarrete de León, María José, Giele, Henk, Henley, Susie, Lazaro, Conxi, Lipkovskaya, Vera, Maher, Eamonn R., Martin, Vanessa, Mathijssen, Irene, Opocher, Enrico, Pires, Ana Elisabete, Pletschko, Thomas, Poupaki, Eirene, Ridola, Vita, Rietman, Andre, Rosenbaum, Thorsten, Santhouse, Alastair, Sehested, Astrid, Simmons, Ian, Taal, Walter, Wagner, Anja, Carton, Charlotte, Evans, D. Gareth, Blanco, Ignacio, Friedrich, Reinhard E., Ferner, Rosalie E., Farschtschi, Said, Salvador, Hector, Azizi, Amedeo A., Mautner, Victor, Röhl, Claas, Peltonen, Sirkku, Stivaros, Stavros, Legius, Eric, and Oostenbrink, Rianne
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- 2023
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16. Description and cross-sectional analyses of 25,880 adults and children in the UK National Registry of Rare Kidney Diseases cohort
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Wong, Katie, primary, Pitcher, David, additional, Braddon, Fiona, additional, Downward, Lewis, additional, Steenkamp, Retha, additional, Masoud, Sherry, additional, Annear, Nicholas, additional, Barratt, Jonathan, additional, Bingham, Coralie, additional, Coward, Richard J., additional, Chrysochou, Tina, additional, Game, David, additional, Griffin, Sian, additional, Hall, Matt, additional, Johnson, Sally, additional, Kanigicherla, Durga, additional, Karet Frankl, Fiona, additional, Kavanagh, David, additional, Kerecuk, Larissa, additional, Maher, Eamonn R., additional, Moochhala, Shabbir, additional, Pinney, Jenny, additional, Sayer, John A., additional, Simms, Roslyn, additional, Sinha, Smeeta, additional, Srivastava, Shalabh, additional, Tam, Frederick W.K., additional, Thomas, Kay, additional, Turner, A. Neil, additional, Walsh, Stephen B., additional, Waters, Aoife, additional, Wilson, Patricia, additional, Wong, Edwin, additional, Abat, Sharirose, additional, Adalat, Shazia, additional, Agbonmwandolor, Joy, additional, Ahmad, Zubaidah, additional, Alejmi, Abdulfattah, additional, Almasarwah, Rashid, additional, Asgari, Ellie, additional, Ayers, Amanda, additional, Baharani, Jyoti, additional, Balasubramaniam, Gowrie, additional, Jo-Bamba Kpodo, Felix, additional, Bansal, Tarun, additional, Barratt, Alison, additional, Bates, Megan, additional, Bayne, Natalie, additional, Bendle, Janet, additional, Benyon, Sarah, additional, Bergmann, Carsten, additional, Bhandari, Sunil, additional, Boddana, Preetham, additional, Bond, Sally, additional, Bramham, Kate, additional, Branson, Angela, additional, Brearey, Stephen, additional, Brocklebank, Vicky, additional, Budwal, Sharanjit, additional, Byrne, Conor, additional, Cairns, Hugh, additional, Camilleri, Brian, additional, Campbell, Gary, additional, Capell, Alys, additional, Carmody, Margaret, additional, Carson, Marion, additional, Cathcart, Tracy, additional, Catley, Christine, additional, Cesar, Karine, additional, Chan, Melanie, additional, Chea, Houda, additional, Chess, James, additional, Cheung, Chee Kay, additional, Chick, Katy-Jane, additional, Chitalia, Nihil, additional, Christian, Martin, additional, Clark, Katherine, additional, Clayton, Christopher, additional, Clissold, Rhian, additional, Cockerill, Helen, additional, Coelho, Joshua, additional, Colby, Elizabeth, additional, Colclough, Viv, additional, Conway, Eileen, additional, Cook, H. Terence, additional, Cook, Wendy, additional, Cooper, Theresa, additional, Crosbie, Sarah, additional, Cserep, Gabor, additional, Date, Anjali, additional, Davidson, Katherine, additional, Davies, Amanda, additional, Dhaun, Neeraj, additional, Dhaygude, Ajay, additional, Diskin, Lynn, additional, Dixit, Abhijit, additional, Doctolero, Eunice Ann, additional, Dorey, Suzannah, additional, Downard, Lewis, additional, Drayson, Mark, additional, Dreyer, Gavin, additional, Dutt, Tina, additional, Etuk, Kufreabasi, additional, Evans, Dawn, additional, Finch, Jenny, additional, Flinter, Frances, additional, Fotheringham, James, additional, Francis, Lucy, additional, Gale, Daniel P., additional, Gallagher, Hugh, additional, Garcia, Eva Lozano, additional, Gavrila, Madita, additional, Gear, Susie, additional, Geddes, Colin, additional, Gilchrist, Mark, additional, Gittus, Matt, additional, Goggolidou, Paraskevi, additional, Goldsmith, Christopher, additional, Gooden, Patricia, additional, Goodlife, Andrea, additional, Goodwin, Priyanka, additional, Grammatikopoulos, Tassos, additional, Gray, Barry, additional, Griffith, Megan, additional, Gumus, Steph, additional, Gupta, Sanjana, additional, Hamilton, Patrick, additional, Harper, Lorraine, additional, Harris, Tess, additional, Haskell, Louise, additional, Hayward, Samantha, additional, Hegde, Shivaram, additional, Hendry, Bruce, additional, Hewins, Sue, additional, Hewitson, Nicola, additional, Hillman, Kate, additional, Hiremath, Mrityunjay, additional, Howson, Alexandra, additional, Htet, Zay, additional, Huish, Sharon, additional, Hull, Richard, additional, Humphries, Alister, additional, Hunt, David P.J., additional, Hunter, Karl, additional, Hunter, Samantha, additional, Ijeomah-Orji, Marilyn, additional, Inston, Nick, additional, Jayne, David, additional, Jenfa, Gbemisola, additional, Jenkins, Alison, additional, Jones, Caroline A., additional, Jones, Colin, additional, Jones, Amanda, additional, Jones, Rachel, additional, Kamesh, Lavanya, additional, Frankl, Fiona Karet, additional, Karim, Mahzuz, additional, Kaur, Amrit, additional, Kearley, Kelly, additional, Khwaja, Arif, additional, King, Garry, additional, King, Grant, additional, Kislowska, Ewa, additional, Klata, Edyta, additional, Kokocinska, Maria, additional, Lambie, Mark, additional, Lawless, Laura, additional, Ledson, Thomas, additional, Lennon, Rachel, additional, Levine, Adam P., additional, Maggie Lai, Ling Wai, additional, Lipkin, Graham, additional, Lovitt, Graham, additional, Lyons, Paul, additional, Mabillard, Holly, additional, Mackintosh, Katherine, additional, Mahdi, Khalid, additional, Maher, Eamonn, additional, Marchbank, Kevin J., additional, Mark, Patrick B., additional, Masunda, Bridgett, additional, Mavani, Zainab, additional, Mayfair, Jake, additional, McAdoo, Stephen, additional, Mckinnell, Joanna, additional, Melhem, Nabil, additional, Meyrick, Simon, additional, Morgan, Putnam, additional, Morgan, Ann, additional, Muhammad, Fawad, additional, Murray, Shona, additional, Novobritskaya, Kristina, additional, Ong, Albert CM., additional, Oni, Louise, additional, Osmaston, Kate, additional, Padmanabhan, Neal, additional, Parkes, Sharon, additional, Patrick, Jean, additional, Pattison, James, additional, Paul, Riny, additional, Percival, Rachel, additional, Perkins, Stephen J., additional, Persu, Alexandre, additional, Petchey, William G., additional, Pickering, Matthew C., additional, Pinney, Jennifer, additional, Plumb, Lucy, additional, Plummer, Zoe, additional, Popoola, Joyce, additional, Post, Frank, additional, Power, Albert, additional, Pratt, Guy, additional, Pusey, Charles, additional, Rabara, Ria, additional, Rabuya, May, additional, Raju, Tina, additional, Javier, Chadd, additional, Roberts, Ian SD., additional, Roufosse, Candice, additional, Rumjon, Adam, additional, Salama, Alan, additional, Saleem, Moin, additional, Sandford, R.N., additional, Sandu, Kanwaljit S., additional, Sarween, Nadia, additional, Sebire, Neil, additional, Selvaskandan, Haresh, additional, Shah, Sapna, additional, Sharma, Asheesh, additional, Sharples, Edward J., additional, Sheerin, Neil, additional, Shetty, Harish, additional, Shroff, Rukshana, additional, Sinha, Manish, additional, Smith, Kerry, additional, Smith, Lara, additional, Stott, Ian, additional, Stroud, Katerina, additional, Swift, Pauline, additional, Szklarzewicz, Justyna, additional, Tam, Fred, additional, Tan, Kay, additional, Taylor, Robert, additional, Tischkowitz, Marc, additional, Tse, Yincent, additional, Turnbull, Alison, additional, Turner, A Neil, additional, Tyerman, Kay, additional, Usher, Miranda, additional, Venkat-Raman, Gopalakrishnan, additional, Walker, Alycon, additional, Watt, Angela, additional, Webster, Phil, additional, Wechalekar, Ashutosh, additional, Welsh, Gavin Iain, additional, West, Nicol, additional, Wheeler, David, additional, Wiles, Kate, additional, Willcocks, Lisa, additional, Williams, Angharad, additional, Williams, Emma, additional, Williams, Karen, additional, Wilson, Deborah H., additional, Wilson, Patricia D., additional, Winyard, Paul, additional, Wong, Katie, additional, Wood, Grahame, additional, Woodward, Emma, additional, Woodward, Len, additional, Woolf, Adrian, additional, Wright, David, additional, Sy, Karla Therese L., additional, Huang, Kui, additional, Ye, Jamie, additional, Nitsch, Dorothea, additional, and Bockenhauer, Detlef, additional
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- 2024
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17. Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study
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Wolstencroft, Jeanne, Wicks, Francesca, Srinivasan, Ramya, Erwood, Marie, Lafont, Amy, Timur, Husne, Ye, Zheng, Walker, Susan, Printzlau, Frida, Juj, Manoj, Davies, Sarah, Denyer, Hayley, Watkins, Alice, Kerry, Eleanor, Coscini, Nadia, Fatih, Nasrtullah, Lucock, Anna, Denaxas, Spiros, Mandy, William, Walker, Neil, Wallwork, Sarah, Dewhurst, Eleanor, Cuthbert, Andrew, Challenger, Aimee, Andrews, Sophie, Holmans, Peter, Bowen, Samantha, Bradley, Karen, Birch, Philippa, Tong, Molly, Lewis, Nicola, Ray, Sinead, Sopp, Matthew, Moss, Hayley, Wynn, Sarah, Searle, Beverley, Robertson, Lisa, Berg, Jonathan, Lampe, Anne, Joss, Shelagh, Brennan, Paul, Kraus, Alison, Lahiri, Nayana, Weber, Astrid, Rawson, Myfanwy, Johnson, Diana, Vasudevan, Pradeep, Harrison, Rachel, Williams, Denise, Maher, Eamonn, Kini, Usha, Van Dijk, Fleur, Clowes, Virginia, Gurasashvilli, Jana, Mansour, Sahar, Holder-Espinasse, Muriel, Watford, Amy, Rankin, Julia, Baralle, Diana, Procter, Annie, Ford, Tamsin, Baker, Kate, Chawner, Samuel, Hall, Jeremy, Van den Bree, Marianne B M, Owen, Michael J, Skuse, David, Raymond, F Lucy, Chawner, Samuel J R A, and van den Bree, Marianne B M
- Published
- 2022
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18. Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service
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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.
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- 2022
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19. ImprintSeq, a novel tool to interrogate DNA methylation at human imprinted regions and diagnose multilocus imprinting disturbance
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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, and Maher, Eamonn R.
- Published
- 2022
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20. Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update
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McGuigan, Anthony, Whitworth, James, Andreou, Avgi, Hearn, Timothy, Tischkowitz, Marc, and Maher, Eamonn R.
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- 2022
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21. Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD
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Garrett, Alice, Loveday, Chey, King, Laura, Butler, Samantha, Robinson, Rachel, Horton, Carrie, Yussuf, Amal, Choi, Subin, Torr, Beth, Durkie, Miranda, Burghel, George J., Drummond, James, Berry, Ian, Wallace, Andrew, Callaway, Alison, Eccles, Diana, Tischkowitz, Marc, Tatton-Brown, Katrina, Snape, Katie, McVeigh, Terri, Izatt, Louise, Woodward, Emma R., Burnichon, Nelly, Gimenez-Roqueplo, Anne-Paule, Mazzarotto, Francesco, Whiffin, Nicola, Ware, James, Hanson, Helen, Pesaran, Tina, LaDuca, Holly, Buffet, Alexandre, Maher, Eamonn R., and Turnbull, Clare
- Published
- 2022
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22. Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences
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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
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- 2022
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23. First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders
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Mackay, Deborah, Bliek, Jet, Kagami, Masayo, Tenorio-Castano, Jair, Pereda, Arrate, Brioude, Frédéric, Netchine, Irène, Papingi, Dzhoy, de Franco, Elisa, Lever, Margaret, Sillibourne, Julie, Lombardi, Paola, Gaston, Véronique, Tauber, Maithé, Diene, Gwenaelle, Bieth, Eric, Fernandez, Luis, Nevado, Julian, Tümer, Zeynep, Riccio, Andrea, Maher, Eamonn R., Beygo, Jasmin, Tannorella, Pierpaola, Russo, Silvia, de Nanclares, Guiomar Perez, Temple, I. Karen, Ogata, Tsutomu, Lapunzina, Pablo, and Eggermann, Thomas
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- 2022
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24. Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort
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Wong, Katie, primary, Pitcher, David, additional, Braddon, Fiona, additional, Downward, Lewis, additional, Steenkamp, Retha, additional, Annear, Nicholas, additional, Barratt, Jonathan, additional, Bingham, Coralie, additional, Chrysochou, Constantina, additional, Coward, Richard J, additional, Game, David, additional, Griffin, Sian, additional, Hall, Matt, additional, Johnson, Sally, additional, Kanigicherla, Durga, additional, Karet Frankl, Fiona, additional, Kavanagh, David, additional, Kerecuk, Larissa, additional, Maher, Eamonn R, additional, Moochhala, Shabbir, additional, Pinney, Jenny, additional, Sayer, John A, additional, Simms, Roslyn, additional, Sinha, Smeeta, additional, Srivastava, Shalabh, additional, Tam, Frederick W K, additional, Turner, Andrew Neil, additional, Walsh, Stephen B, additional, Waters, Aoife, additional, Wilson, Patricia, additional, Wong, Edwin, additional, Taylor, Christopher Mark, additional, Nitsch, Dorothea, additional, Saleem, Moin, additional, Bockenhauer, Detlef, additional, Bramham, Kate, additional, Gale, Daniel P, additional, Abat, Sharirose, additional, Adalat, Shazia, additional, Agbonmwandolor, Joy, additional, Ahmad, Zubaidah, additional, Alejmi, Abdulfattah, additional, Almasarwah, Rashid, additional, Asgari, Ellie, additional, Ayers, Amanda, additional, Baharani, Jyoti, additional, Balasubramaniam, Gowrie, additional, Kpodo, Felix, additional, Bansal, Tarun, additional, Barratt, Alison, additional, Bates, Megan, additional, Bayne, Natalie, additional, Bendle, Janet, additional, Benyon, Sarah, additional, Bergmann, Carsten, additional, Bhandari, Sunil, additional, Boddana, Preetham, additional, Bond, Sally, additional, Branson, Angela, additional, Brearey, Stephen, additional, Brocklebank, Vicky, additional, Budwal, Sharanjit, additional, Byrne, Conor, additional, Cairns, Hugh, additional, Camilleri, Brian, additional, Campbell, Gary, additional, Capell, Alys, additional, Carmody, Margaret, additional, Carson, Marion, additional, Cathcart, Tracy, additional, Catley, Christine, additional, Cesar, Karine, additional, Chan, Melanie, additional, Chea, Houda, additional, Chess, James, additional, Cheung, Chee Kay, additional, Chick, Katy-Jane, additional, Chitalia, Nihil, additional, Christian, Martin, additional, Chrysochou, Tina, additional, Clark, Katherine, additional, Clayton, Christopher, additional, Clissold, Rhian, additional, Cockerill, Helen, additional, Coelho, Joshua, additional, Colby, Elizabeth, additional, Colclough, Viv, additional, Conway, Eileen, additional, Cook, H Terence, additional, Cook, Wendy, additional, Cooper, Theresa, additional, Crosbie, Sarah, additional, Cserep, Gabor, additional, Date, Anjali, additional, Davidson, Katherine, additional, Davies, Amanda, additional, Dhaun, Neeraj, additional, Dhaygude, Ajay, additional, Diskin, Lynn, additional, Dixit, Abhijit, additional, Doctolero, Eunice, additional, Dorey, Suzannah, additional, Downard, Lewis, additional, Drayson, Mark, additional, Dreyer, Gavin, additional, Dutt, Tina, additional, Etuk, Kufreabasi, additional, Evans, Dawn, additional, Finch, Jenny, additional, Flinter, Frances, additional, Fotheringham, James, additional, Francis, Lucy, additional, Gallagher, Hugh, additional, Garcia, Eva, additional, Gavrila, Madita, additional, Gear, Susie, additional, Geddes, Colin, additional, Gilchrist, Mark, additional, Gittus, Matt, additional, Goggolidou, Paraskevi, additional, Goldsmith, Christopher, additional, Gooden, Patricia, additional, Goodlife, Andrea, additional, Goodwin, Priyanka, additional, Grammatikopoulos, Tassos, additional, Gray, Barry, additional, Griffith, Megan, additional, Gumus, Steph, additional, Gupta, Sanjana, additional, Hamilton, Patrick, additional, Harper, Lorraine, additional, Harris, Tess, additional, Haskell, Louise, additional, Hayward, Samantha, additional, Hegde, Shivaram, additional, Hendry, Bruce, additional, Hewins, Sue, additional, Hewitson, Nicola, additional, Hillman, Kate, additional, Hiremath, Mrityunjay, additional, Howson, Alexandra, additional, Htet, Zay, additional, Huish, Sharon, additional, Hull, Richard, additional, Humphries, Alister, additional, Hunt, David P J, additional, Hunter, Karl, additional, Hunter, Samantha, additional, Ijeomah-Orji, Marilyn, additional, Inston, Nick, additional, Jayne, David, additional, Jenfa, Gbemisola, additional, Jenkins, Alison, additional, Jones, Caroline A, additional, Jones, Colin, additional, Jones, Amanda, additional, Jones, Rachel, additional, Kamesh, Lavanya, additional, Karim, Mahzuz, additional, Kaur, Amrit, additional, Kearley, Kelly, additional, Khwaja, Arif, additional, King, Garry, additional, King, Grant, additional, Kislowska, Ewa, additional, Klata, Edyta, additional, Kokocinska, Maria, additional, Lambie, Mark, additional, Lawless, Laura, additional, Ledson, Thomas, additional, Lennon, Rachel, additional, Levine, Adam P, additional, Lai, Ling Wai Maggie, additional, Lipkin, Graham, additional, Lovitt, Graham, additional, Lyons, Paul, additional, Mabillard, Holly, additional, Mackintosh, Katherine, additional, Mahdi, Khalid, additional, Maher, Eamonn, additional, Marchbank, Kevin J, additional, Mark, Patrick B, additional, Masoud, Sherry, additional, Masunda, Bridgett, additional, Mavani, Zainab, additional, Mayfair, Jake, additional, McAdoo, Stephen, additional, Mckinnell, Joanna, additional, Melhem, Nabil, additional, Meyrick, Simon, additional, Morgan, Putnam, additional, Morgan, Ann, additional, Muhammad, Fawad, additional, Murray, Shona, additional, Novobritskaya, Kristina, additional, Ong, Albert CM, additional, Oni, Louise, additional, Osmaston, Kate, additional, Padmanabhan, Neal, additional, Parkes, Sharon, additional, Patrick, Jean, additional, Pattison, James, additional, Paul, Riny, additional, Percival, Rachel, additional, Perkins, Stephen J, additional, Persu, Alexandre, additional, Petchey, William G, additional, Pickering, Matthew C, additional, Pinney, Jennifer, additional, Plumb, Lucy, additional, Plummer, Zoe, additional, Popoola, Joyce, additional, Post, Frank, additional, Power, Albert, additional, Pratt, Guy, additional, Pusey, Charles, additional, Rabara, Ria, additional, Rabuya, May, additional, Raju, Tina, additional, Javier, Chadd, additional, Roberts, Ian S D, additional, Roufosse, Candice, additional, Rumjon, Adam, additional, Salama, Alan, additional, Sandford, Richard, additional, Sandu, Kanwaljit S, additional, Sarween, Nadia, additional, Sebire, Neil, additional, Selvaskandan, Haresh, additional, Sharma, Asheesh, additional, Sharples, Edward J, additional, Sheerin, Neil, additional, Shetty, Harish, additional, Shroff, Rukshana, additional, Sinha, Manish, additional, Smith, Kerry, additional, Smith, Lara, additional, Stott, Ian, additional, Stroud, Katerina, additional, Swift, Pauline, additional, Szklarzewicz, Justyna, additional, Tam, Fred, additional, Tan, Kay, additional, Taylor, Robert, additional, Tischkowitz, Marc, additional, Thomas, Kay, additional, Tse, Yincent, additional, Turnbull, Alison, additional, Turner, A Neil, additional, Tyerman, Kay, additional, Usher, Miranda, additional, Venkat-Raman, Gopalakrishnan, additional, Walker, Alycon, additional, Watt, Angela, additional, Webster, Phil, additional, Wechalekar, Ashutosh, additional, Welsh, Gavin I, additional, West, Nicol, additional, Wheeler, David, additional, Wiles, Kate, additional, Willcocks, Lisa, additional, Williams, Angharad, additional, Williams, Emma, additional, Williams, Karen, additional, Wilson, Deborah H, additional, Wilson, Patricia D, additional, Winyard, Paul, additional, Wong, Katie, additional, Wood, Grahame, additional, Woodward, Emma, additional, Woodward, Len, additional, Woolf, Adrian, additional, and Wright, David, additional
- Published
- 2024
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25. The Koebner Phenomenon in Bullous Pemphigoid
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Shah, Payal, primary, Anakwe, Akonam Olivia, additional, Ingrassia, Jenne, additional, Maher, Eamonn, additional, Caplan, Avrom, additional, and Adotama, Prince, additional
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- 2024
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26. Bacterial Skin and Soft Tissue Infections in Older Adults
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Maher, Eamonn, primary and Anokhin, Anya, additional
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- 2024
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27. Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert Consensus statement
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Pathologie Pathologen staf, Cancer, Taïeb, David, Nölting, Svenja, Perrier, Nancy D., Fassnacht, Martin, Carrasquillo, Jorge A., Grossman, Ashley B., Clifton-Bligh, Roderick, Wanna, George B., Schwam, Zachary G., Amar, Laurence, Bourdeau, Isabelle, Casey, Ruth T., Crona, Joakim, Deal, Cheri L., Del Rivero, Jaydira, Duh, Quan Yang, Eisenhofer, Graeme, Fojo, Tito, Ghayee, Hans K., Gimenez-Roqueplo, Anne Paule, Gill, Antony J., Hicks, Rodney, Imperiale, Alessio, Jha, Abhishek, Kerstens, Michiel N., de Krijger, Ronald R., Lacroix, André, Lazurova, Ivica, Lin, Frank I., Lussey-Lepoutre, Charlotte, Maher, Eamonn R., Mete, Ozgur, Naruse, Mitsuhide, Nilubol, Naris, Robledo, Mercedes, Sebag, Frédéric, Shah, Nalini S., Tanabe, Akiyo, Thompson, Geoffrey B., Timmers, Henri J.L.M., Widimsky, Jiri, Young, William J., Meuter, Leah, Lenders, Jacques W.M., Pacak, Karel, Pathologie Pathologen staf, Cancer, Taïeb, David, Nölting, Svenja, Perrier, Nancy D., Fassnacht, Martin, Carrasquillo, Jorge A., Grossman, Ashley B., Clifton-Bligh, Roderick, Wanna, George B., Schwam, Zachary G., Amar, Laurence, Bourdeau, Isabelle, Casey, Ruth T., Crona, Joakim, Deal, Cheri L., Del Rivero, Jaydira, Duh, Quan Yang, Eisenhofer, Graeme, Fojo, Tito, Ghayee, Hans K., Gimenez-Roqueplo, Anne Paule, Gill, Antony J., Hicks, Rodney, Imperiale, Alessio, Jha, Abhishek, Kerstens, Michiel N., de Krijger, Ronald R., Lacroix, André, Lazurova, Ivica, Lin, Frank I., Lussey-Lepoutre, Charlotte, Maher, Eamonn R., Mete, Ozgur, Naruse, Mitsuhide, Nilubol, Naris, Robledo, Mercedes, Sebag, Frédéric, Shah, Nalini S., Tanabe, Akiyo, Thompson, Geoffrey B., Timmers, Henri J.L.M., Widimsky, Jiri, Young, William J., Meuter, Leah, Lenders, Jacques W.M., and Pacak, Karel
- Published
- 2024
28. Wilms tumour resulting from paternal transmission of a TRIM28 pathogenic variant - A first report
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Whitworth, James, Armstrong, Ruth, Maher, Eamonn R, Whitworth, James, Armstrong, Ruth, and Maher, Eamonn R
- Abstract
Wilms tumour (nephroblastoma) is a renal embryonal tumour that is frequently caused by constitutional variants in a small range of cancer predisposition genes. TRIM28 has recently been identified as one such gene. Previously, observational data strongly suggested a parent of origin effect, whereby Wilms tumour only occurred following maternal inheritance of a pathogenic genetic variant. However, here we report a child with bilateral Wilms tumour who had inherited a pathogenic TRIM28 variant from their father. This finding suggests that genetic counselling for paternally inherited pathogenic variants in TRIM28 should include discussion of a potential risk of Wilms tumour.
- Published
- 2024
29. When should we offer antenatal sequencing for urinary tract malformations? A systematic review, cohort study and meta‐analysis
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Sonner, Sarah, primary, Reilly, Kelly, additional, Woolf, Adrian S., additional, Chandler, Natalie, additional, Kilby, Mark D., additional, Maher, Eamonn R., additional, Flanagan, Cheryl, additional, McKnight, Amy Jayne, additional, and Mone, Fionnuala, additional
- Published
- 2023
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30. Wilms tumour resulting from paternal transmission of a TRIM28 pathogenic variant – A first report
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Whitworth, James, primary, Armstrong, Ruth, additional, and Maher, Eamonn, additional
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- 2023
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31. Paediatric research sets new standards for therapy in paediatric and adult cholestasis
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Jeyaraj, Rebecca, primary, Maher, Eamonn R, additional, and Kelly, Deirdre, additional
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- 2023
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32. When should we offer antenatal sequencing for urinary tract malformations? A systematic review, cohort study and meta‐analysis.
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Sonner, Sarah, Reilly, Kelly, Woolf, Adrian S., Chandler, Natalie, Kilby, Mark D., Maher, Eamonn R., Flanagan, Cheryl, McKnight, Amy Jayne, and Mone, Fionnuala
- Abstract
Objective: Determine the incremental yield of prenatal exome sequencing (PES) over chromosome microarray (CMA) and/or karyotype for urinary tract malformations (UTMs). Method: A prospective cohort study encompassing data from the English Genomic Medicine Service North Thames Laboratory Hub for fetuses with bilateral echogenic kidneys (BEKs) was combined with data from a systematic review. MEDLINE, EMBASE, Web of Science, MedRxiv and GreyLit were searched from 01/2010‐02/2023 for studies reporting on the yield of PES over CMA or karyotype in fetuses with UTMs. Pooled incremental yield was determined using a random effects model. PROSPERO CRD42023364544. Results: Fourteen studies (410 cases) were included. The incremental yield for multisystem UTMs, any isolated UTMs, and BEKs was 31% [95% CI, 18%–46%; I2 = 78%], 16% [95% CI, 6%–26%; I2 = 80%] and 51% [95% CI, 27%–75%; I2 = 34%]. The most common clinical diseases and syndromes identified, based on the variant genes detected, were Bardet‐Biedl syndrome (BBS genes), dominant and recessive polycystic kidney diseases (PKD1, PKD2 and PKHD1) and renal cysts and diabetes syndrome (HNF1B). Conclusion: There was a notable incremental genetic diagnostic yield when PES was applied to multisystem UTMs and BEKs. There was a modest incremental yield when this technique was used for UTMs other than BEKs. Key points: What's already known about this topic? Bilateral echogenic kidneys (BEKs) have a recognized association with monogenetic conditions and are an indication for prenatal exome sequencing (PES) in many healthcare systems. What does this study add? For urinary tract malformations other than BEKs, there is a modest incremental yield from PES over chromosome microarray and G‐banding karyotype. [ABSTRACT FROM AUTHOR]
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- 2024
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33. Prurigo Pigmentosa Induced by a Ketogenic Diet
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Nellore, Aditya, primary, Maher, Eamonn, additional, and Abate, Mallory, additional
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- 2023
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34. Epigenotype–genotype–phenotype correlations in SETD1A and SETD2 chromatin disorders
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Lee, Sunwoo, primary, Menzies, Lara, additional, Hay, Eleanor, additional, Ochoa, Eguzkine, additional, Docquier, France, additional, Rodger, Fay, additional, Deshpande, Charu, additional, Foulds, Nicola C, additional, Jacquemont, Sébastien, additional, Jizi, Khadije, additional, Kiep, Henriette, additional, Kraus, Alison, additional, Löhner, Katharina, additional, Morrison, Patrick J, additional, Popp, Bernt, additional, Richardson, Ruth, additional, van Haeringen, Arie, additional, Martin, Ezequiel, additional, Toribio, Ana, additional, Li, Fudong, additional, Jones, Wendy D, additional, Sansbury, Francis H, additional, and Maher, Eamonn R, additional
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- 2023
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35. P103: Operationalizing structured curated scientific literature (CIViC and Hypothesis) in developing gene-specific recommendations of the ClinGen VHL Variant Curation Expert Panel
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Ritter, Deborah, Badduke, Chansonette, Anderson, Michael, Danos, Arpad, Doonanco, Kurston, Farncombe, Kirsten, Gallinger, Bailey, Giles, Rachel, Griffith, Malachi, Griffith, Obi, Horton, Carolyn, Hruska, Kathleen, Kang, Hio Chung, Krysiak, Kilannin, Luo, Minjie, Machado, Jerry, Maher, Eamonn, McGoldrick, Kelly, Pesaran, Tina, Pipko, Neta, Ridd, Sarah, Saliba, Jason, Sheen, Clare, and Kim, Raymond
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- 2024
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- View/download PDF
36. Wilms tumour resulting from paternal transmission of a TRIM28pathogenic variant—A first report
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Whitworth, James, Armstrong, Ruth, and Maher, Eamonn R.
- Abstract
Wilms tumour (nephroblastoma) is a renal embryonal tumour that is frequently caused by constitutional variants in a small range of cancer predisposition genes. TRIM28has recently been identified as one such gene. Previously, observational data strongly suggested a parent of origin effect, whereby Wilms tumour only occurred following maternal inheritance of a pathogenic genetic variant. However, here we report a child with bilateral Wilms tumour who had inherited a pathogenic TRIM28variant from their father. This finding suggests that genetic counselling for paternally inherited pathogenic variants in TRIM28should include discussion of a potential risk of Wilms tumour.
- Published
- 2024
- Full Text
- View/download PDF
37. UK recommendations for SDHA germline genetic testing and surveillance in clinical practice
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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, Maher, Eamonn R., 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.
- Abstract
SDHA pathogenic germline variants (PGVs) are identified in up to 10% of patients with paraganglioma and phaeochromocytoma and up to 30% with wild-type gastrointestinal stromal tumours. Most SDHA PGV carriers present with an apparently sporadic tumour, but often the pathogenic variant has been inherited from parent who has the variant, but has not developed any clinical features. Studies of SDHA PGV carriers suggest that lifetime penetrance for SDHA-associated tumours is low, particularly when identified outside the context of a family history. Current recommended surveillance for SDHA PGV carriers follows an intensive protocol. With increasing implementation of tumour and germline large panel and whole-genome sequencing, it is likely more SDHA PGV carriers will be identified in patients with tumours not strongly associated with SDHA, or outside the context of a strong family history. This creates a complex situation about what to recommend in clinical practice considering low penetrance for tumour development, surveillance burden and patient anxiety. An expert SDHA working group was formed to discuss and consider this situation. This paper outlines the recommendations from this working group for testing and management of SDHA PGV carriers in clinical practice.
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- 2023
38. When should we offer antenatal sequencing for urinary tract malformations? A systematic review, cohort study and meta-analysis
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Sonner, Sarah, Reilly, Kelly, Woolf, Adrian S., Chandler, Natalie, Kilby, Mark D., Maher, Eamonn R., Flanagan, Cheryl, McKnight, Amy Jayne, Mone, Fionnuala, Sonner, Sarah, Reilly, Kelly, Woolf, Adrian S., Chandler, Natalie, Kilby, Mark D., Maher, Eamonn R., Flanagan, Cheryl, McKnight, Amy Jayne, and Mone, Fionnuala
- Abstract
OBJECTIVE: Determine the incremental yield of prenatal exome sequencing (PES) over chromosome microarray (CMA) and/or karyotype for urinary tract malformations (UTMs). METHOD: A prospective cohort study encompassing data from the English Genomic Medicine Service North Thames Laboratory Hub for fetuses with bilateral echogenic kidneys (BEKs) was combined with data from a systematic review. MEDLINE, EMBASE, Web of Science, MedRxiv and GreyLit were searched from 01/2010-02/2023 for studies reporting on the yield of PES over CMA or karyotype in fetuses with UTMs. Pooled incremental yield was determined using a random effects model. PROSPERO CRD42023364544. RESULTS: Fourteen studies (410 cases) were included. The incremental yield for multisystem UTMs, any isolated UTMs, and BEKs was 31% [95% CI, 18%-46%; I2 = 78%], 16% [95% CI, 6%-26%; I2 = 80%] and 51% [95% CI, 27%-75%; I2 = 34%]. The most common clinical diseases and syndromes identified, based on the variant genes detected, were Bardet-Biedl syndrome (BBS genes), dominant and recessive polycystic kidney diseases (PKD1, PKD2 and PKHD1) and renal cysts and diabetes syndrome (HNF1B). CONCLUSION: There was a notable incremental genetic diagnostic yield when PES was applied to multisystem UTMs and BEKs. There was a modest incremental yield when this technique was used for UTMs other than BEKs.
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- 2023
39. Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders
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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., Maher, Eamonn R., 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.
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Germline pathogenic variants in two genes encoding the lysine-specific histone methyltransferase genes SETD1A and SETD2 are associated with neurodevelopmental disorders (NDDs) characterized by developmental delay and congenital anomalies. The SETD1A and SETD2 gene products play a critical role in chromatin-mediated regulation of gene expression. Specific methylation episignatures have been detected for a range of chromatin gene-related NDDs and have impacted clinical practice by improving the interpretation of variant pathogenicity. To investigate if SETD1A and/or SETD2-related NDDs are associated with a detectable episignature, we undertook targeted genome-wide methylation profiling of > 2 M CpGs using a next-generation sequencing-based assay. A comparison of methylation profiles in patients with SETD1A variants (n = 6) did not reveal evidence of a strong methylation episignature. A review of the clinical and genetic features of the SETD2 patient group revealed that, as reported previously, there were phenotypic differences between patients with truncating mutations (n = 4, Luscan-Lumish syndrome; MIM:616831) and those with missense codon 1740 variants [p.Arg1740Trp (n = 4) and p.Arg1740Gln (n = 2)]. Both SETD2 subgroups demonstrated a methylation episignature, which was characterized by hypomethylation and hypermethylation events, respectively. Within the codon 1740 subgroup, both the methylation changes and clinical phenotype were more severe in those with p.Arg1740Trp variants. We also noted that two of 10 cases with a SETD2-NDD had developed a neoplasm. These findings reveal novel epigenotype-genotype-phenotype correlations in SETD2-NDDs and predict a gain-of-function mechanism for SETD2 codon 1740 pathogenic variants.
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- 2023
40. Update of penetrance estimates in Birt-Hogg-Dubé syndrome
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Bruinsma, Fiona Jane, Dowty, James G., Win, Aung Ko, Goddard, Laura C., Agrawal, Prachi, Attina', Domenico, Bissada, Nabil, De Luise, Monica, Eisen, Daniel B., Furuya, Mitsuko, Gasparre, Giuseppe, Genuardi, Maurizio, Gerdes, Anne Marie, Hansen, Thomas Van Overeem, Houweling, Arjan C., Johannesma, Paul Christiaan, Lencastre, André, Lim, Derek, Lindor, Noralane M., Luzzi, Valentina, Lynch, Maeve, Maffé, Antonella, Menko, Fred H., Michels, Guido, Pulido, Jose S., Ryu, Jay H., Sattler, Elke C., Steinlein, Ortrud K., Tomassetti, Sara, Tucker, Kathy, Turchetti, Daniela, Van De Beek, Irma, Van Riel, Lore, Van Steensel, Maurice, Zenone, Thierry, Zompatori, Maurizo, Walsh, Jennifer, Bondavalli, Davide, Maher, Eamonn R., Winship, Ingrid M., Bruinsma, Fiona Jane, Dowty, James G., Win, Aung Ko, Goddard, Laura C., Agrawal, Prachi, Attina', Domenico, Bissada, Nabil, De Luise, Monica, Eisen, Daniel B., Furuya, Mitsuko, Gasparre, Giuseppe, Genuardi, Maurizio, Gerdes, Anne Marie, Hansen, Thomas Van Overeem, Houweling, Arjan C., Johannesma, Paul Christiaan, Lencastre, André, Lim, Derek, Lindor, Noralane M., Luzzi, Valentina, Lynch, Maeve, Maffé, Antonella, Menko, Fred H., Michels, Guido, Pulido, Jose S., Ryu, Jay H., Sattler, Elke C., Steinlein, Ortrud K., Tomassetti, Sara, Tucker, Kathy, Turchetti, Daniela, Van De Beek, Irma, Van Riel, Lore, Van Steensel, Maurice, Zenone, Thierry, Zompatori, Maurizo, Walsh, Jennifer, Bondavalli, Davide, Maher, Eamonn R., and Winship, Ingrid M.
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Background Birt-Hogg-Dubé (BHD) syndrome is a rare genetic syndrome caused by pathogenic or likely pathogenic germline variants in the FLCN gene. Patients with BHD syndrome have an increased risk of fibrofolliculomas, pulmonary cysts, pneumothorax and renal cell carcinoma. There is debate regarding whether colonic polyps should be added to the criteria. Previous risk estimates have mostly been based on small clinical case series. Methods A comprehensive review was conducted to identify studies that had recruited families carrying pathogenic or likely pathogenic variants in FLCN. Pedigree data were requested from these studies and pooled. Segregation analysis was used to estimate the cumulative risk of each manifestation for carriers of FLCN pathogenic variants. Results Our final dataset contained 204 families that were informative for at least one manifestation of BHD (67 families informative for skin manifestations, 63 for lung, 88 for renal carcinoma and 29 for polyps). By age 70 years, male carriers of the FLCN variant have an estimated 19% (95% CI 12% to 31%) risk of renal tumours, 87% (95% CI 80% to 92%) of lung involvement and 87% (95% CI 78% to 93%) of skin lesions, while female carriers had an estimated 21% (95% CI 13% to 32%) risk of renal tumours, 82% (95% CI 73% to 88%) of lung involvement and 78% (95% CI 67% to 85%) of skin lesions. The cumulative risk of colonic polyps by age 70 years old was 21% (95% CI 8% to 45%) for male carriers and 32% (95% CI 16% to 53%) for female carriers. Conclusions These updated penetrance estimates, based on a large number of families, are important for the genetic counselling and clinical management of BHD syndrome.
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- 2023
41. Clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants
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Pathologie Pathologen staf, Taïeb, David, Wanna, George B., Ahmad, Maleeha, Lussey-Lepoutre, Charlotte, Perrier, Nancy D., Nölting, Svenja, Amar, Laurence, Timmers, Henri J.L.M., Schwam, Zachary G., Estrera, Anthony L., Lim, Michael, Pollom, Erqi Liu, Vitzthum, Lucas, Bourdeau, Isabelle, Casey, Ruth T., Castinetti, Frédéric, Clifton-Bligh, Roderick, Corssmit, Eleonora P.M., de Krijger, Ronald R., Del Rivero, Jaydira, Eisenhofer, Graeme, Ghayee, Hans K., Gimenez-Roqueplo, Anne Paule, Grossman, Ashley, Imperiale, Alessio, Jansen, Jeroen C., Jha, Abhishek, Kerstens, Michiel N., Kunst, Henricus P.M., Liu, James K., Maher, Eamonn R., Marchioni, Daniele, Mercado-Asis, Leilani B., Mete, Ozgur, Naruse, Mitsuhide, Nilubol, Naris, Pandit-Taskar, Neeta, Sebag, Frédéric, Tanabe, Akiyo, Widimsky, Jiri, Meuter, Leah, Lenders, Jacques W.M., Pacak, Karel, Pathologie Pathologen staf, Taïeb, David, Wanna, George B., Ahmad, Maleeha, Lussey-Lepoutre, Charlotte, Perrier, Nancy D., Nölting, Svenja, Amar, Laurence, Timmers, Henri J.L.M., Schwam, Zachary G., Estrera, Anthony L., Lim, Michael, Pollom, Erqi Liu, Vitzthum, Lucas, Bourdeau, Isabelle, Casey, Ruth T., Castinetti, Frédéric, Clifton-Bligh, Roderick, Corssmit, Eleonora P.M., de Krijger, Ronald R., Del Rivero, Jaydira, Eisenhofer, Graeme, Ghayee, Hans K., Gimenez-Roqueplo, Anne Paule, Grossman, Ashley, Imperiale, Alessio, Jansen, Jeroen C., Jha, Abhishek, Kerstens, Michiel N., Kunst, Henricus P.M., Liu, James K., Maher, Eamonn R., Marchioni, Daniele, Mercado-Asis, Leilani B., Mete, Ozgur, Naruse, Mitsuhide, Nilubol, Naris, Pandit-Taskar, Neeta, Sebag, Frédéric, Tanabe, Akiyo, Widimsky, Jiri, Meuter, Leah, Lenders, Jacques W.M., and Pacak, Karel
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- 2023
42. Preferential MGMT hypermethylation in SDH-deficient wild-type GIST.
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Giger, Olivier T., Hoopen, Rogier ten, Shorthouse, David, Abdullahi, Shukri, Bulusu, Venkata Ramesh, Jadhav, Saili, Maher, Eamonn R., and Casey, Ruth T.
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METHYLGUANINE ,O6-Methylguanine-DNA Methyltransferase ,P16 gene ,SINGLE-strand DNA breaks ,GENE expression - Published
- 2024
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43. Data from Therapeutic Targeting the Loss of the Birt-Hogg-Dubé Suppressor Gene
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Lu, Xiaohong, primary, Wei, Wenbin, primary, Fenton, Janine, primary, Nahorski, Michael S., primary, Rabai, Erzsebet, primary, Reiman, Anne, primary, Seabra, Laurence, primary, Nagy, Zsuzsanna, primary, Latif, Farida, primary, and Maher, Eamonn R., primary
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- 2023
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44. Data from A Randomized Placebo-Controlled Prevention Trial of Aspirin and/or Resistant Starch in Young People with Familial Adenomatous Polyposis
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Burn, John, primary, Bishop, D. Timothy, primary, Chapman, Pamela D., primary, Elliott, Faye, primary, Bertario, Lucio, primary, Dunlop, Malcolm G., primary, Eccles, Diana, primary, Ellis, Anthony, primary, Evans, D. Gareth, primary, Fodde, Riccardo, primary, Maher, Eamonn R., primary, Möslein, Gabriela, primary, Vasen, Hans F. A., primary, Coaker, Julie, primary, Phillips, Robin K. S., primary, Bülow, Steffen, primary, and Mathers, John C., primary
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- 2023
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45. Supplementary Figure 1 from Therapeutic Targeting the Loss of the Birt-Hogg-Dubé Suppressor Gene
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Lu, Xiaohong, primary, Wei, Wenbin, primary, Fenton, Janine, primary, Nahorski, Michael S., primary, Rabai, Erzsebet, primary, Reiman, Anne, primary, Seabra, Laurence, primary, Nagy, Zsuzsanna, primary, Latif, Farida, primary, and Maher, Eamonn R., primary
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- 2023
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46. Supplementary Figure Legend from Therapeutic Targeting the Loss of the Birt-Hogg-Dubé Suppressor Gene
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Lu, Xiaohong, primary, Wei, Wenbin, primary, Fenton, Janine, primary, Nahorski, Michael S., primary, Rabai, Erzsebet, primary, Reiman, Anne, primary, Seabra, Laurence, primary, Nagy, Zsuzsanna, primary, Latif, Farida, primary, and Maher, Eamonn R., primary
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- 2023
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47. Perspective on This Article from A Randomized Placebo-Controlled Prevention Trial of Aspirin and/or Resistant Starch in Young People with Familial Adenomatous Polyposis
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Burn, John, primary, Bishop, D. Timothy, primary, Chapman, Pamela D., primary, Elliott, Faye, primary, Bertario, Lucio, primary, Dunlop, Malcolm G., primary, Eccles, Diana, primary, Ellis, Anthony, primary, Evans, D. Gareth, primary, Fodde, Riccardo, primary, Maher, Eamonn R., primary, Möslein, Gabriela, primary, Vasen, Hans F. A., primary, Coaker, Julie, primary, Phillips, Robin K. S., primary, Bülow, Steffen, primary, and Mathers, John C., primary
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- 2023
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48. Supplementary Data from Analysis of VHL Gene Alterations and their Relationship to Clinical Parameters in Sporadic Conventional Renal Cell Carcinoma
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Young, Alison C., primary, Craven, Rachel A., primary, Cohen, Dena, primary, Taylor, Claire, primary, Booth, Christopher, primary, Harnden, Patricia, primary, Cairns, David A., primary, Astuti, Dewi, primary, Gregory, Walter, primary, Maher, Eamonn R., primary, Knowles, Margaret A., primary, Joyce, Adrian, primary, Selby, Peter J., primary, and Banks, Rosamonde E., primary
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- 2023
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49. Supplementary Table 2 from Genetic and Epigenetic Analysis of von Hippel-Lindau (VHL) Gene Alterations and Relationship with Clinical Variables in Sporadic Renal Cancer
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Banks, Rosamonde E., primary, Tirukonda, Prasanna, primary, Taylor, Claire, primary, Hornigold, Nick, primary, Astuti, Dewi, primary, Cohen, Dena, primary, Maher, Eamonn R., primary, Stanley, Anthea J., primary, Harnden, Patricia, primary, Joyce, Adrian, primary, Knowles, Margaret, primary, and Selby, Peter J., primary
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- 2023
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50. Supplementary Movie 4 from Depletion of the Ras Association Domain Family 1, Isoform A–Associated Novel Microtubule-Associated Protein, C19ORF5/MAP1S, Causes Mitotic Abnormalities
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Dallol, Ashraf, primary, Cooper, Wendy N., primary, Al-Mulla, Fahd, primary, Agathanggelou, Angelo, primary, Maher, Eamonn R., primary, and Latif, Farida, primary
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- 2023
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