1,726 results on '"Maher, Eamonn R"'
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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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- View/download PDF
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
- Full Text
- View/download PDF
5. 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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6. 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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7. 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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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
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- 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
- Full Text
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10. 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
- Published
- 2023
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11. 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
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12. 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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13. 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
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- 2023
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14. 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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15. 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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16. 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.
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- 2022
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17. 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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18. 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
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- 2022
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19. 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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20. 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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21. 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
- Published
- 2024
- Full Text
- View/download PDF
22. A systematic review assessing the existence of pneumothorax-only variants of FLCN. Implications for lifelong surveillance of renal tumours
- Author
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Matsumoto, Kenki, Lim, Derek, Pharoah, Paul D., Maher, Eamonn R., and Marciniak, Stefan J.
- Published
- 2021
- Full Text
- View/download PDF
23. Wilms tumour surveillance in at-risk children: Literature review and recommendations from the SIOP-Europe Host Genome Working Group and SIOP Renal Tumour Study Group
- Author
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Hol, Janna A., Jewell, Rosalyn, Chowdhury, Tanzina, Duncan, Catriona, Nakata, Kayo, Oue, Takaharu, Gauthier-Villars, Marion, Littooij, Annemieke S., Kaneko, Yasuhiko, Graf, Norbert, Bourdeaut, Franck, van den Heuvel-Eibrink, Marry M., Pritchard-Jones, Kathy, Maher, Eamonn R., Kratz, Christian P., and Jongmans, Marjolijn C.J.
- Published
- 2021
- Full Text
- View/download PDF
24. Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind, randomised, placebo-controlled trial
- Author
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Boussioutas, Alex, Brewer, Carole, Cook, Jackie, Eccles, Diana, Ellis, Anthony, Hodgson, Shirley V, Lubinski, Jan, Maher, Eamonn R, Porteous, Mary EM, Sampson, Julian, Scott, Rodney J, Side, Lucy, Burn, John, Sheth, Harsh, Elliott, Faye, Reed, Lynn, Macrae, Finlay, Mecklin, Jukka-Pekka, Möslein, Gabriela, McRonald, Fiona E, Bertario, Lucio, Evans, D Gareth, Gerdes, Anne-Marie, Ho, Judy W C, Lindblom, Annika, Morrison, Patrick J, Rashbass, Jem, Ramesar, Raj, Seppälä, Toni, Thomas, Huw J W, Pylvänäinen, Kirsi, Borthwick, Gillian M, Mathers, John C, and Bishop, D Timothy
- Published
- 2020
- Full Text
- View/download PDF
25. Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort
- Author
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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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- View/download PDF
26. Germline selection shapes human mitochondrial DNA diversity
- Author
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NIHR BioResource-Rare Diseases, 1001000 Genomes Project-Rare Diseases Pilot, Wei, Wei, Tuna, Salih, Keogh, Michael J., Smith, Katherine R., Aitman, Timothy J., Beales, Phil L., Bennett, David L., Gale, Daniel P., Bitner-Glindzicz, Maria A. K., Black, Graeme C., Brennan, Paul, Elliott, Perry, Flinter, Frances A., Floto, R. Andres, Houlden, Henry, Irving, Melita, Koziell, Ania, Maher, Eamonn R., Markus, Hugh S., Morrell, Nicholas W., Newman, William G., Roberts, Irene, Sayer, John A., Smith, Kenneth G. C., Taylor, Jenny C., Watkins, Hugh, Webster, Andrew R., Wilkie, Andrew O. M., Williamson, Catherine, Ashford, Sofie, Penkett, Christopher J., Stirrups, Kathleen E., Rendon, Augusto, Ouwehand, Willem H., Bradley, John R., Raymond, F. Lucy, Caulfield, Mark, Turro, Ernest, and Chinnery, Patrick F.
- Published
- 2019
27. Familial Syndromes and Genetic Causes of Paraganglioma and Phaeochromocytoma
- Author
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Maher, Eamonn R., additional and Casey, Ruth T., additional
- Published
- 2021
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28. Genetics of Phaeochromocytomas, Paragangliomas, and Neuroblastoma
- Author
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Maher, Eamonn R., additional and Casey, Ruth T., additional
- Published
- 2021
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- View/download PDF
29. Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert Consensus statement
- Author
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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
30. Wilms tumour resulting from paternal transmission of a TRIM28 pathogenic variant - A first report
- Author
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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
31. Dysregulation at multiple points of the kynurenine pathway is a ubiquitous feature of renal cancer: implications for tumour immune evasion
- Author
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Hornigold, Nick, Dunn, Karen R., Craven, Rachel A., Zougman, Alexandre, Trainor, Sebastian, Shreeve, Rebecca, Brown, Joanne, Sewell, Helen, Shires, Michael, Knowles, Margaret, Fukuwatari, Tsutomu, Maher, Eamonn R., Burns, Julie, Bhattarai, Selina, Menon, Mini, Brazma, Alvis, Scelo, Ghislaine, Feulner, Lara, Riazalhosseini, Yasser, Lathrop, Mark, Harris, Adrian, Selby, Peter J., Banks, Rosamonde E., and Vasudev, Naveen S.
- Published
- 2020
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32. The role of [68 Ga]Ga-DOTATATE PET/CT in wild-type KIT/PDGFRA gastrointestinal stromal tumours (GIST)
- Author
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Aloj, Luigi, Giger, Olivier, Mendichovszky, Iosif A., Challis, Ben G., Ronel, Meytar, Harper, Ines, Cheow, Heok, Hoopen, Rogier ten, Pitfield, Deborah, Gallagher, Ferdia A., Attili, Bala, McLean, Mary, Jones, Robin L., Dileo, Palma, Bulusu, Venkata Ramesh, Maher, Eamonn R., and Casey, Ruth T.
- Published
- 2021
- Full Text
- View/download PDF
33. Familial Kidney Cancer: Implications of New Syndromes and Molecular Insights
- Author
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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, and Coleman, Jonathan A.
- Published
- 2019
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34. Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies
- Author
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Quinlan-Jones, Elizabeth, Lord, Jenny, Williams, Denise, Hamilton, Sue, Marton, Tamas, Eberhardt, Ruth Y., Rinck, Gabriele, Prigmore, Elena, Keelagher, Rebecca, McMullan, Dominic J., Maher, Eamonn R., Hurles, Matthew E., and Kilby, Mark D.
- Published
- 2019
- Full Text
- View/download PDF
35. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
- Author
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Bateman, Mark, Berry, Ian R, Best, Sunayna K, Campbell, Carolyn, Campbell, Jenni, Carey, Georgina, Chandler, Kate E, Chitty, Lyn S, Cilliers, Deirdre, Cohen, Kelly, Collingwood, Emma, Constantinou, Panayiotis, Cresswell, Lara, Delmege, Catherine, Eberhardt, Ruth Y, Edwards, Sandra L, Ellis, Richard, Evans, Jerry, Everett, Thomas, Pinto, Clare F, Forrester, Natalie, Fowler, Emma, Gardiner, Carol, Hamilton, Susan, Healey, Karen, Henderson, Alex, Holden, Simon T, Homfray, Tessa, Hudson, Rebecca, Hurles, Matthew E, Jenkins, Lucy, Keelagher, Rebecca, Kilby, Mark D, Lester, Tracey, Lewis, Rebecca, Lord, Jenny, Maher, Eamonn R, Marton, Tamas, McMullan, Dominic J, Mehta, Sarju, Mellis, Rhiannon, Newbury-Ecob, Ruth, Park, Soo-Mi, Parker, Michael, Prescott, Katrina, Prigmore, Elena, Quarrell, Oliver W, Quinlan-Jones, Elizabeth, Ramsden, Simon C, Rinck, Gabriele, Robart, Sarah, Roberts, Eileen, Rowland, Jayne, Scott, Richard H, Steer, James, Tapon, Dagmar, Taylor, Emma J, Tooley, Madeleine J, Vasudevan, Pradeep C, Weber, Astrid P, Wellesley, Diana G, Westwood, Paul, White, Helen, Williams, Denise, Wilson, Elizabeth, Hamilton, Susan J, Carey, Georgina K, Lester, Tracy, and Lewis, Rebecca A
- Published
- 2019
- Full Text
- View/download PDF
36. When should we offer antenatal sequencing for urinary tract malformations? A systematic review, cohort study and meta‐analysis
- Author
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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
- Full Text
- View/download PDF
37. Paediatric research sets new standards for therapy in paediatric and adult cholestasis
- Author
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Jeyaraj, Rebecca, primary, Maher, Eamonn R, additional, and Kelly, Deirdre, additional
- Published
- 2023
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- View/download PDF
38. Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes
- Author
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Aitman, Timothy, Alachkar, Hana, Ali, Sonia, Allen, Louise, Allsup, David, Ambegaonkar, Gautum, Anderson, Julie, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Arumugakani, Gururaj, Ashford, Sofie, Astle, William, Attwood, Antony, Austin, Steve, Bacchelli, Chiara, Bakchoul, Tamam, Bariana, Tadbir K., Baxendale, Helen, Bennett, David, Bethune, Claire, Bibi, Shahnaz, Bitner-Glindzicz, Maria, Bleda, Marta, Boggard, Harm, Bolton-Maggs, Paula, Booth, Claire, Bradley, John R., Brady, Angie, Brown, Matthew, Browning, Michael, Bryson, Christine, Burns, Siobhan, Calleja, Paul, Canham, Natalie, Carmichael, Jenny, Carss, Keren, Caulfield, Mark, Chalmers, Elizabeth, Chandra, Anita, Chinnery, Patrick, Chitre, Manali, Church, Colin, Clement, Emma, Clements-Brod, Naomi, Clowes, Virginia, Coghlan, Gerry, Collins, Peter, Cookson, Victoria, Cooper, Nichola, Corris, Paul, Creaser-Myers, Amanda, DaCosta, Rosa, Daugherty, Louise, Davies, Sophie, Davis, John, De Vries, Minka, Deegan, Patrick, Deevi, Sri V.V., Deshpande, Charu, Devlin, Lisa, Dewhurst, Eleanor, Dixon, Peter, Doffinger, Rainer, Dormand, Natalie, Drewe, Elizabeth, Edgar, David, Egner, William, Erber, Wendy N., Erwood, Marie, Everington, Tamara, Favier, Remi, Firth, Helen, Fletcher, Debra, Flinter, Frances, Frary, Amy, Freson, Kathleen, Furie, Bruce, Furnell, Abigail, Gale, Daniel, Gardham, Alice, Gattens, Michael, Ghali, Neeti, Ghataorhe, Pavandeep K., Ghurye, Rohit, Gibbs, Simon, Gilmour, Kimberley, Gissen, Paul, Goddard, Sarah, Gomez, Keith, Gordins, Pavel, Graf, Stefan, Gräf, Stefan, Greene, Daniel, Greenhalgh, Alan, Greinacher, Andreas, Grigoriadou, Sofia, Grozeva, Detelina, Hackett, Scott, Hadinnapola, Charaka, Hague, Rosie, Haimel, Matthias, Halmagyi, Csaba, Hammerton, Tracey, Hart, Daniel, Hayman, Grant, Heemskerk, Johan W.M., Henderson, Robert, Hensiek, Anke, Henskens, Yvonne, Herwadkar, Archana, Holden, Simon, Holder, Muriel, Holder, Susan, Hu, Fengyuan, Huis in’t Veld, Anna, Huissoon, Aarnoud, Humbert, Marc, Hurst, Jane, James, Roger, Jolles, Stephen, Josifova, Dragana, Kazmi, Rashid, Keeling, David, Kelleher, Peter, Kelly, Anne M., Kennedy, Fiona, Kiely, David, Kingston, Nathalie, Koziell, Ania, Krishnakumar, Deepa, Kuijpers, Taco W., Kuijpers, Taco, Kumararatne, Dinakantha, Kurian, Manju, Laffan, Michael A., Lambert, Michele P., Allen, Hana Lango, Lango-Allen, Hana, Lawrie, Allan, Lear, Sara, Lees, Melissa, Lentaigne, Claire, Liesner, Ri, Linger, Rachel, Longhurst, Hilary, Lorenzo, Lorena, Louka, Eleni, Machado, Rajiv, Ross, Rob Mackenzie, MacLaren, Robert, Maher, Eamonn, Maimaris, Jesmeen, Mangles, Sarah, Manson, Ania, Mapeta, Rutendo, Markus, Hugh S., Martin, Jennifer, Masati, Larahmie, Mathias, Mary, Matser, Vera, Maw, Anna, McDermott, Elizabeth, McJannet, Coleen, Meacham, Stuart, Meehan, Sharon, Megy, Karyn, Mehta, Sarju, Michaelides, Michel, Millar, Carolyn M., Moledina, Shahin, Moore, Anthony, Morrell, Nicholas, Mumford, Andrew, Murng, Sai, Murphy, Elaine, Nejentsev, Sergey, Noorani, Sadia, Nurden, Paquita, Oksenhendler, Eric, Othman, Shokri, Ouwehand, Willem H., Papadia, Sofia, Park, Soo-Mi, Parker, Alasdair, Pasi, John, Patch, Chris, Paterson, Joan, Payne, Jeanette, Peacock, Andrew, Peerlinck, Kathelijne, Penkett, Christopher J., Pepke-Zaba, Joanna, Perry, David, Perry, David J., Pollock, Val, Polwarth, Gary, Ponsford, Mark, Qasim, Waseem, Quinti, Isabella, Rankin, Stuart, Rankin, Julia, Raymond, F. Lucy, Rayner-Matthews, Paula, Rehnstrom, Karola, Reid, Evan, Rhodes, Christopher J., Richards, Michael, Richardson, Sylvia, Richter, Alex, Roberts, Irene, Rondina, Matthew, Rosser, Elisabeth, Roughley, Catherine, Roy, Noémi, Rue-Albrecht, Kevin, Samarghitean, Crina, Sanchis-Juan, Alba, Sandford, Richard, Santra, Saikat, Sargur, Ravishankar, Savic, Sinisa, Schotte, Gwen, Schulman, Sol, Schulze, Harald, Scott, Richard, Scully, Marie, Seneviratne, Suranjith, Sewell, Carrock, Shamardina, Olga, Shipley, Debbie, Simeoni, Ilenia, Sivapalaratnam, Suthesh, Smith, Kenneth G.C., Sohal, Aman, Southgate, Laura, Staines, Simon, Staples, Emily, Stark, Hannah, Stauss, Hans, Stein, Penelope, Stephens, Jonathan, Stirrups, Kathleen, Stock, Sophie, Suntharalingam, Jay, Talks, Kate, Tan, Yvonne, Thachil, Jecko, Thaventhiran, James, Thomas, Ellen, Thomas, Moira, Thompson, Dorothy, Thrasher, Adrian, Tischkowitz, Marc, Titterton, Catherine, Toh, Cheng-Hock, Toshner, Mark, Treacy, Carmen, Trembath, Richard, Tuna, Salih, Turek, Wojciech, Turro, Ernest, Van Geet, Chris, Veltman, Marijke, Vogt, Julie, von Ziegenweldt, Julie, Vonk Noordegraaf, Anton, Wakeling, Emma, Wanjiku, Ivy, Warner, Timothy Q., Wassmer, Evangeline, Watkins, Hugh, Watt, Christopher, Webster, ndrew, Welch, Steve, Westbury, Sarah, Wharton, John, Whitehorn, Deborah, Wilkins, Martin, Willcocks, Lisa, Williamson, Catherine, Woods, Geoffrey, Woods, Geoff, Wort, John, Yeatman, Nigel, Yong, Patrick, Young, Tim, Yu, Ping, Whitworth, James, Smith, Philip S., Martin, Jose-Ezequiel, West, Hannah, Luchetti, Andrea, Rodger, Faye, Clark, Graeme, Penkett, Chris, Shakeel, Hassan, Ahmed, Munaza, Adlard, Julian, Barwell, Julian, Brewer, Carole, Casey, Ruth T., Cole, Trevor, Evans, Dafydd Gareth, Fostira, Florentia, Greenhalgh, Lynn, Hanson, Helen, Henderson, Alex, Hoffman, Jonathan, Izatt, Louise, Kumar, Ajith, Kwong, Ava, Lalloo, Fiona, Ong, Kai Ren, Chen-Shtoyerman, Rakefet, Searle, Claire, Side, Lucy, Skytte, Anne-Bine, Snape, Katie, Woodward, Emma R., Tischkowitz, Marc D., and Maher, Eamonn R.
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- 2018
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39. von Hippel-Lindau Disease: an Update
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Maher, Eamonn R and Sandford, Richard N
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- 2019
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40. Genomic imprinting disorders: lessons on how genome, epigenome and environment interact
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Monk, David, Mackay, Deborah J. G., Eggermann, Thomas, Maher, Eamonn R., and Riccio, Andrea
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- 2019
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41. Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33
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Houlston, Richard S, Cheadle, Jeremy, Dobbins, Sara E, Tenesa, Albert, Jones, Angela M, Howarth, Kimberley, Spain, Sarah L, Broderick, Peter, Domingo, Enric, Farrington, Susan, Prendergast, James GD, Pittman, Alan M, Theodoratou, Evi, Smith, Christopher G, Olver, Bianca, Walther, Axel, Barnetson, Rebecca A, Churchman, Michael, Jaeger, Emma EM, Penegar, Steven, Barclay, Ella, Martin, Lynn, Gorman, Maggie, Mager, Rachel, Johnstone, Elaine, Midgley, Rachel, Niittymäki, Iina, Tuupanen, Sari, Colley, James, Idziaszczyk, Shelley, Thomas, Huw JW, Lucassen, Anneke M, Evans, D Gareth R, Maher, Eamonn R, Maughan, Timothy, Dimas, Antigone, Dermitzakis, Emmanouil, Cazier, Jean-Baptiste, Aaltonen, Lauri A, Pharoah, Paul, Kerr, David J, Carvajal-Carmona, Luis G, Campbell, Harry, Dunlop, Malcolm G, and Tomlinson, Ian PM
- Subjects
Prevention ,Cancer ,Genetics ,Colo-Rectal Cancer ,Human Genome ,Digestive Diseases ,Chromosome Mapping ,Chromosomes ,Human ,Pair 1 ,Chromosomes ,Human ,Pair 12 ,Chromosomes ,Human ,Pair 13 ,Chromosomes ,Human ,Pair 3 ,Colorectal Neoplasms ,Female ,Genetic Predisposition to Disease ,Genome-Wide Association Study ,Genotype ,Humans ,Male ,Meta-Analysis as Topic ,Odds Ratio ,Oligonucleotide Array Sequence Analysis ,Polymorphism ,Single Nucleotide ,Risk Assessment ,COGENT Consortium ,CORGI Consortium ,COIN Collaborative Group ,COINB Collaborative Group ,Biological Sciences ,Medical and Health Sciences ,Developmental Biology - Abstract
Genome-wide association studies (GWAS) have identified ten loci harboring common variants that influence risk of developing colorectal cancer (CRC). To enhance the power to identify additional CRC risk loci, we conducted a meta-analysis of three GWAS from the UK which included a total of 3,334 affected individuals (cases) and 4,628 controls followed by multiple validation analyses including a total of 18,095 cases and 20,197 controls. We identified associations at four new CRC risk loci: 1q41 (rs6691170, odds ratio (OR) = 1.06, P = 9.55 × 10⁻¹⁰ and rs6687758, OR = 1.09, P = 2.27 × 10⁻⁹, 3q26.2 (rs10936599, OR = 0.93, P = 3.39 × 10⁻⁸), 12q13.13 (rs11169552, OR = 0.92, P = 1.89 × 10⁻¹⁰ and rs7136702, OR = 1.06, P = 4.02 × 10⁻⁸) and 20q13.33 (rs4925386, OR = 0.93, P = 1.89 × 10⁻¹⁰). In addition to identifying new CRC risk loci, this analysis provides evidence that additional CRC-associated variants of similar effect size remain to be discovered.
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- 2010
42. X-linked cataract and Nance-Horan syndrome are allelic disorders
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Coccia, Margherita, Brooks, Simon P, Webb, Tom R, Christodoulou, Katja, Wozniak, Izabella O, Murday, Victoria, Balicki, Martha, Yee, Harris A, Wangensteen, Teresia, Riise, Ruth, Saggar, Anand K, Park, Soo-Mi, Kanuga, Naheed, Francis, Peter J, Maher, Eamonn R, Moore, Anthony T, Russell-Eggitt, Isabelle M, and Hardcastle, Alison J
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Rare Diseases ,Brain Disorders ,Human Genome ,Congenital Structural Anomalies ,Pediatric ,Biotechnology ,Intellectual and Developmental Disabilities (IDD) ,Genetics ,Aetiology ,2.1 Biological and endogenous factors ,Congenital ,Good Health and Well Being ,Adult ,Base Sequence ,Cataract ,Child ,Child ,Preschool ,Female ,Gene Dosage ,Genes ,X-Linked ,Genetic Diseases ,X-Linked ,Humans ,Infant ,Newborn ,Male ,Membrane Proteins ,Middle Aged ,Molecular Sequence Data ,Nuclear Proteins ,Pedigree ,Young Adult ,Biological Sciences ,Medical and Health Sciences ,Genetics & Heredity - Abstract
Nance-Horan syndrome (NHS) is an X-linked developmental disorder characterized by congenital cataract, dental anomalies, facial dysmorphism and, in some cases, mental retardation. Protein truncation mutations in a novel gene (NHS) have been identified in patients with this syndrome. We previously mapped X-linked congenital cataract (CXN) in one family to an interval on chromosome Xp22.13 which encompasses the NHS locus; however, no mutations were identified in the NHS gene. In this study, we show that NHS and X-linked cataract are allelic diseases. Two CXN families, which were negative for mutations in the NHS gene, were further analysed using array comparative genomic hybridization. CXN was found to be caused by novel copy number variations: a complex duplication-triplication re-arrangement and an intragenic deletion, predicted to result in altered transcriptional regulation of the NHS gene. Furthermore, we also describe the clinical and molecular analysis of seven families diagnosed with NHS, identifying four novel protein truncation mutations and a novel large deletion encompassing the majority of the NHS gene, all leading to no functional protein. We therefore show that different mechanisms, aberrant transcription of the NHS gene or no functional NHS protein, lead to different diseases. Our data highlight the importance of copy number variation and non-recurrent re-arrangements leading to different severity of disease and describe the potential mechanisms involved.
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- 2009
43. Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract.
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Meyer, Esther, Rahman, Fatimah, Owens, Jessica, Pasha, Shanaz, Morgan, Neil V, Trembath, Richard C, Stone, Edwin M, Moore, Anthony T, and Maher, Eamonn R
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Humans ,Cataract ,beta-Crystallin B Chain ,Codon ,Initiator ,Oligonucleotide Array Sequence Analysis ,DNA Mutational Analysis ,Family ,Microsatellite Repeats ,Genes ,Recessive ,Polymorphism ,Single Nucleotide ,Codon ,Initiator ,Genes ,Recessive ,Polymorphism ,Single Nucleotide ,Ophthalmology & Optometry ,Opthalmology and Optometry - Abstract
PurposeTo identify the molecular basis for autosomal recessively inherited congenital non-syndromic pulverulent cataracts in a consanguineous family with four affected children.MethodsAn autozygosity mapping strategy using high density SNP microarrays and microsatellite markers was employed to detect regions of homozygosity. Subsequently good candidate genes were screened for mutations by direct sequencing.ResultsThe SNP microarray data demonstrated a 24.96 Mb region of homozygosity at 22q11.21-22q13.2 which was confirmed by microsatellite marker analysis. The candidate target region contained the beta-crystallin gene cluster and direct sequencing in affected family members revealed a novel mutation in CRYBB1 (c.2T>A; p.Met1Lys).ConclusionsTo our knowledge this is the first case of an initiation codon mutation in a human crystallin gene, and only the second report of a CRYBB1 mutation associated with autosomal recessive congenital cataracts. In addition, although a number of genetic causes of autosomal dominant pulverulent cataracts have been identified (including CRYBB1) this is the first gene to have been implicated in autosomal recessive nuclear pulverulent cataract.
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- 2009
44. The Novel Rho-GTPase Activating Gene MEGAP/srGAP3 Has a Putative Role in Severe Mental Retardation
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Endris, Volker, Wogatzky, Birgit, Leimer, Uwe, Bartsch, Dusan, Zatyka, Malgorzata, Latif, Farida, Maher, Eamonn R., Tariverdian, Gholamali, Kirsch, Stefan, Karch, Dieter, and Rappold, Gudrun A.
- Published
- 2002
45. PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins
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Hall, Emma A., Nahorski, Michael S., Murray, Lyndsay M., Shaheen, Ranad, Perkins, Emma, Dissanayake, Kosala N., Kristaryanto, Yosua, Jones, Ross A., Vogt, Julie, Rivagorda, Manon, Handley, Mark T., Mali, Girish R., Quidwai, Tooba, Soares, Dinesh C., Keighren, Margaret A., McKie, Lisa, Mort, Richard L., Gammoh, Noor, Garcia-Munoz, Amaya, Davey, Tracey, Vermeren, Matthieu, Walsh, Diana, Budd, Peter, Aligianis, Irene A., Faqeih, Eissa, Quigley, Alan J., Jackson, Ian J., Kulathu, Yogesh, Jackson, Mandy, Ribchester, Richard R., von Kriegsheim, Alex, Alkuraya, Fowzan S., Woods, C. Geoffrey, Maher, Eamonn R., and Mill, Pleasantine
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- 2017
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46. 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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47. A Maternally Methylated CpG Island in KvLQT1 Is Associated with an Antisense Paternal Transcript and Loss of Imprinting in Beckwith-Wiedemann Syndrome
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Smilinich, Nancy J., Day, Colleen D., Fitzpatrick, Galina V., Caldwell, Germaine M., Lossie, Amy C., Cooper, P. R., Smallwood, Allan C., Joyce, Johanna A., Schofield, Paul N., Reik, Wolf, Nicholls, Robert D., Weksberg, Rosanna, Driscoll, D. J., Maher, Eamonn R., Shows, Thomas B., and Higgins, Michael J.
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- 1999
48. Eye
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Hodgson, Shirley V., Foulkes, William D., Eng, Charis, Maher, Eamonn R., Hodgson, Shirley V., Foulkes, William D., Eng, Charis, and Maher, Eamonn R.
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- 2014
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49. Musculoskeletal System
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Hodgson, Shirley V., Foulkes, William D., Eng, Charis, Maher, Eamonn R., Hodgson, Shirley V., Foulkes, William D., Eng, Charis, and Maher, Eamonn R.
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- 2014
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50. Skin
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Hodgson, Shirley V., Foulkes, William D., Eng, Charis, Maher, Eamonn R., Hodgson, Shirley V., Foulkes, William D., Eng, Charis, and Maher, Eamonn R.
- Published
- 2014
- Full Text
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Catalog
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