Multiple Congenital Melanocytic Nevi and Neurocutaneous Melanosis Are Caused by Postzygotic Mutations in Codon 61 of NRAS
Kinsler, Veronica A., Thomas, Anna C., Ishida, Miho, Bulstrode, Neil W., Loughlin, Sam, Hing, Sandra, Chalker, Jane, McKenzie, Kathryn, Abu-Amero, Sayeda, Slater, Olga, Chanudet, Estelle, Palmer, Rodger, Morrogh, Deborah, Stanier, Philip, Healy, Eugene, Sebire, Neil J., Moore, Gudrun E.
Published in Journal of investigative dermatology (01.09.2013)
Published in Journal of investigative dermatology (01.09.2013)
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Identification of Circulating Tumor DNA for the Early Detection of Small-cell Lung Cancer
Fernandez-Cuesta, Lynnette, Perdomo, Sandra, Avogbe, Patrice H., Leblay, Noemie, Delhomme, Tiffany M., Gaborieau, Valerie, Abedi-Ardekani, Behnoush, Chanudet, Estelle, Olivier, Magali, Zaridze, David, Mukeria, Anush, Vilensky, Marta, Holcatova, Ivana, Polesel, Jerry, Simonato, Lorenzo, Canova, Cristina, Lagiou, Pagona, Brambilla, Christian, Brambilla, Elisabeth, Byrnes, Graham, Scelo, Ghislaine, Le Calvez-Kelm, Florence, Foll, Matthieu, McKay, James D., Brennan, Paul
Published in EBioMedicine (01.08.2016)
Published in EBioMedicine (01.08.2016)
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Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome
Thomas, Anna C., Williams, Hywel, Setó-Salvia, Núria, Bacchelli, Chiara, Jenkins, Dagan, O’Sullivan, Mary, Mengrelis, Konstantinos, Ishida, Miho, Ocaka, Louise, Chanudet, Estelle, James, Chela, Lescai, Francesco, Anderson, Glenn, Morrogh, Deborah, Ryten, Mina, Duncan, Andrew J., Pai, Yun Jin, Saraiva, Jorge M., Ramos, Fabiana, Farren, Bernadette, Saunders, Dawn, Vernay, Bertrand, Gissen, Paul, Straatmaan-Iwanowska, Anna, Baas, Frank, Wood, Nicholas W., Hersheson, Joshua, Houlden, Henry, Hurst, Jane, Scott, Richard, Bitner-Glindzicz, Maria, Moore, Gudrun E., Sousa, Sérgio B., Stanier, Philip
Published in American journal of human genetics (06.11.2014)
Published in American journal of human genetics (06.11.2014)
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The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes
Waters, Aoife M, Asfahani, Rowan, Carroll, Paula, Bicknell, Louise, Lescai, Francesco, Bright, Alison, Chanudet, Estelle, Brooks, Anthony, Christou-Savina, Sonja, Osman, Guled, Walsh, Patrick, Bacchelli, Chiara, Chapgier, Ariane, Vernay, Bertrand, Bader, David M, Deshpande, Charu, O’ Sullivan, Mary, Ocaka, Louise, Stanescu, Horia, Stewart, Helen S, Hildebrandt, Friedhelm, Otto, Edgar, Johnson, Colin A, Szymanska, Katarzyna, Katsanis, Nicholas, Davis, Erica, Kleta, Robert, Hubank, Mike, Doxsey, Stephen, Jackson, Andrew, Stupka, Elia, Winey, Mark, Beales, Philip L
Published in Journal of medical genetics (01.03.2015)
Published in Journal of medical genetics (01.03.2015)
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Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome
Sousa, Sérgio B, Jenkins, Dagan, Chanudet, Estelle, Tasseva, Guergana, Ishida, Miho, Anderson, Glenn, Docker, James, Ryten, Mina, Sa, Joaquim, Saraiva, Jorge M, Barnicoat, Angela, Scott, Richard, Calder, Alistair, Wattanasirichaigoon, Duangrurdee, Chrzanowska, Krystyna, Simandlová, Martina, Van Maldergem, Lionel, Stanier, Philip, Beales, Philip L, Vance, Jean E, Moore, Gudrun E
Published in Nature genetics (01.01.2014)
Published in Nature genetics (01.01.2014)
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Morphological findings in frozen non-neoplastic kidney tissues of patients with kidney cancer from large-scale multicentric studies on renal cancer
Abedi-Ardekani, Behnoush, Nasrollahzadeh, Dariush, Egevad, Lars, Banks, Rosamonde E., Vasudev, Naveen, Holcatova, Ivana, Povysil, Ctibor, Foretova, Lenka, Janout, Vladimir, Mates, Dana, Jinga, Viorel, Petrescu, Amelia, Milosavljevic, Sasa, Ognjanovic, Miodrag, Ognjanovic, Simona, Viksna, Juris, Warren, Anne Y., Lathrop, Mark, Riazalhosseini, Yasser, Carreira, Christine, Chanudet, Estelle, McKay, James, Brennan, Paul, Scélo, Ghislaine
Published in Virchows Archiv : an international journal of pathology (01.06.2021)
Published in Virchows Archiv : an international journal of pathology (01.06.2021)
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Primary effusion lymphoma: genomic profiling revealed amplification of SELPLG and CORO1C encoding for proteins important for cell migration
Luan, Shi-Lu, Boulanger, Emmanuelle, Ye, Hongtao, Chanudet, Estelle, Johnson, Nicola, Hamoudi, Rifat A, Bacon, Chris M, Liu, Hongxiang, Huang, Yuanxue, Said, Jonathan, Chu, Peiguo, Clemen, Christoph S, Cesarman, Ethel, Chadburn, Amy, Isaacson, Peter G, Du, Ming-Qing
Published in The Journal of pathology (01.10.2010)
Published in The Journal of pathology (01.10.2010)
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Journal Article
A20 inactivation in ocular adnexal MALT lymphoma
BI, Yingwen, NAIYAN ZENG, RONGJIA CHEN, XIONGZENG ZHU, DU, Ming-Qing, CHANUDET, Estelle, YUANXUE HUANG, HAMOUDI, Rifat A, HONGXIANG LIU, GEHONG DONG, JAMES WATKINS, A, LEY, Steven C, LIFEN ZOU
Published in Haematologica (Roma) (01.06.2012)
Published in Haematologica (Roma) (01.06.2012)
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Splenic marginal zone lymphoma: characterization of 7q deletion and its value in diagnosis
Watkins, A. James, Huang, Yuanxue, Ye, Hongtao, Chanudet, Estelle, Johnson, Nicola, Hamoudi, Rifat, Liu, Hongxiang, Dong, Gehong, Attygalle, Ayoma, McPhail, Ellen D, Law, Mark E, Isaacson, Peter G, de Leval, Laurence, Wotherspoon, Andrew, Du, Ming-Qing
Published in The Journal of pathology (01.03.2010)
Published in The Journal of pathology (01.03.2010)
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Acute Inhibition of MEK Suppresses Congenital Melanocytic Nevus Syndrome in a Murine Model Driven by Activated NRAS and Wnt Signaling
Pawlikowski, Jeffrey S., Brock, Claire, Chen, Sheau-Chiann, Al-Olabi, Lara, Nixon, Colin, McGregor, Fiona, Paine, Simon, Chanudet, Estelle, Lambie, Wendy, Holmes, William M., Mullin, James M., Richmond, Ann, Wu, Hong, Blyth, Karen, King, Ayala, Kinsler, Veronica A., Adams, Peter D.
Published in Journal of investigative dermatology (01.11.2015)
Published in Journal of investigative dermatology (01.11.2015)
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Journal Article
Characterisation and validation of insertions and deletions in 173 patient exomes
Lescai, Francesco, Bonfiglio, Silvia, Bacchelli, Chiara, Chanudet, Estelle, Waters, Aoife, Sisodiya, Sanjay M, Kasperavičiūtė, Dalia, Williams, Julie, Harold, Denise, Hardy, John, Kleta, Robert, Cirak, Sebahattin, Williams, Richard, Achermann, John C, Anderson, John, Kelsell, David, Vulliamy, Tom, Houlden, Henry, Wood, Nicholas, Sheerin, Una, Tonini, Gian Paolo, Mackay, Donna, Hussain, Khalid, Sowden, Jane, Kinsler, Veronica, Osinska, Justyna, Brooks, Tony, Hubank, Mike, Beales, Philip, Stupka, Elia
Published in PloS one (14.12.2012)
Published in PloS one (14.12.2012)
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Mutational signatures in esophageal squamous cell carcinoma from eight countries with varying incidence
Moody, Sarah, Senkin, Sergey, Islam, S. M. Ashiqul, Wang, Jingwei, Nasrollahzadeh, Dariush, Cortez Cardoso Penha, Ricardo, Fitzgerald, Stephen, Bergstrom, Erik N., Atkins, Joshua, He, Yudou, Khandekar, Azhar, Smith-Byrne, Karl, Carreira, Christine, Gaborieau, Valerie, Latimer, Calli, Thomas, Emily, Abnizova, Irina, Bucciarelli, Pauline E., Jones, David, Teague, Jon W., Abedi-Ardekani, Behnoush, Serra, Stefano, Scoazec, Jean-Yves, Saffar, Hiva, Azmoudeh-Ardalan, Farid, Sotoudeh, Masoud, Nikmanesh, Arash, Poustchi, Hossein, Niavarani, Ahmadreza, Gharavi, Samad, Eden, Michael, Richman, Paul, Campos, Lia S., Fitzgerald, Rebecca C., Ribeiro, Luis Felipe, Soares-Lima, Sheila Coelho, Dzamalala, Charles, Mmbaga, Blandina Theophil, Shibata, Tatsuhiro, Menya, Diana, Goldstein, Alisa M., Hu, Nan, Malekzadeh, Reza, Fazel, Abdolreza, McCormack, Valerie, McKay, James, Perdomo, Sandra, Scelo, Ghislaine, Chanudet, Estelle, Humphreys, Laura, Alexandrov, Ludmil B., Brennan, Paul, Stratton, Michael R.
Published in Nature genetics (01.11.2021)
Published in Nature genetics (01.11.2021)
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Variability of Sex Disparities in Cancer Incidence over 30 Years: The Striking Case of Kidney Cancer
Scelo, Ghislaine, Li, Peng, Chanudet, Estelle, Muller, David C
Published in European urology focus (01.07.2018)
Published in European urology focus (01.07.2018)
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Large‐scale genome‐wide screening of circulating microRNAs in clear cell renal cell carcinoma reveals specific signatures in late‐stage disease
Chanudet, Estelle, Wozniak, Magdalena B., Bouaoun, Liacine, Byrnes, Graham, Mukeriya, Anush, Zaridze, David, Brennan, Paul, Muller, David C., Scelo, Ghislaine
Published in International journal of cancer (01.11.2017)
Published in International journal of cancer (01.11.2017)
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Journal Article
Exome sequencing identifies variants in FKBP4 that are associated with recurrent fetal loss in humans
Demetriou, Charalambos, Chanudet, Estelle, Joseph, Agnel, Topf, Maya, Thomas, Anna C, Bitner-Glindzicz, Maria, Regan, Lesley, Stanier, Philip, Moore, Gudrun E
Published in Human molecular genetics (15.10.2019)
Published in Human molecular genetics (15.10.2019)
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Journal Article
Geographic variation of mutagenic exposures in kidney cancer genomes
Senkin, Sergey, Moody, Sarah, Díaz-Gay, Marcos, Abedi-Ardekani, Behnoush, Cattiaux, Thomas, Ferreiro-Iglesias, Aida, Wang, Jingwei, Fitzgerald, Stephen, Kazachkova, Mariya, Vangara, Raviteja, Le, Anh Phuong, Bergstrom, Erik N., Khandekar, Azhar, Otlu, Burçak, Cheema, Saamin, Latimer, Calli, Thomas, Emily, Atkins, Joshua Ronald, Smith-Byrne, Karl, Cortez Cardoso Penha, Ricardo, Carreira, Christine, Chopard, Priscilia, Gaborieau, Valérie, Keski-Rahkonen, Pekka, Jones, David, Teague, Jon W., Ferlicot, Sophie, Asgari, Mojgan, Sangkhathat, Surasak, Attawettayanon, Worapat, Świątkowska, Beata, Jarmalaite, Sonata, Sabaliauskaite, Rasa, Shibata, Tatsuhiro, Fukagawa, Akihiko, Mates, Dana, Jinga, Viorel, Rascu, Stefan, Mijuskovic, Mirjana, Savic, Slavisa, Milosavljevic, Sasa, Bartlett, John M. S., Albert, Monique, Phouthavongsy, Larry, Ashton-Prolla, Patricia, Botton, Mariana R., Silva Neto, Brasil, Bezerra, Stephania Martins, Curado, Maria Paula, Zequi, Stênio de Cássio, Reis, Rui Manuel, Faria, Eliney Ferreira, de Menezes, Nei Soares, Ferrari, Renata Spagnoli, Banks, Rosamonde E., Vasudev, Naveen S., Zaridze, David, Mukeriya, Anush, Shangina, Oxana, Matveev, Vsevolod, Foretova, Lenka, Navratilova, Marie, Holcatova, Ivana, Hornakova, Anna, Janout, Vladimir, Purdue, Mark P., Rothman, Nathaniel, Chanock, Stephen J., Ueland, Per Magne, Johansson, Mattias, McKay, James, Scelo, Ghislaine, Chanudet, Estelle, Humphreys, Laura, de Carvalho, Ana Carolina, Perdomo, Sandra, Alexandrov, Ludmil B., Stratton, Michael R., Brennan, Paul
Published in Nature (London) (23.05.2024)
Published in Nature (London) (23.05.2024)
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Sexual dimorphism in cancer: insights from transcriptional signatures in kidney tissue and renal cell carcinoma
Laskar, Ruhina S, Li, Peng, Ecsedi, Szilvia, Abedi-Ardekani, Behnoush, Durand, Geoffroy, Robinot, Nivonirina, Hubert, Jean-Noël, Janout, Vladimir, Zaridze, David, Mukeria, Anush, Mates, Dana, Holcatova, Ivana, Foretova, Lenka, Swiatkowska, Beata, Dzamic, Zoran, Milosavljevic, Sasa, Olaso, Robert, Boland, Anne, Deleuze, Jean-François, Muller, David C, McKay, James D, Brennan, Paul, Le Calvez-Kelm, Florence, Scelo, Ghislaine, Chanudet, Estelle
Published in Human molecular genetics (27.04.2021)
Published in Human molecular genetics (27.04.2021)
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Journal Article
Application of Genomic Sequencing to Refine Patient Stratification for Adjuvant Therapy in Renal Cell Carcinoma
Vasudev, Naveen S, Scelo, Ghislaine, Glennon, Kate I, Wilson, Michelle, Letourneau, Louis, Eveleigh, Robert, Nourbehesht, Nazanin, Arseneault, Madeleine, Paccard, Antoine, Egevad, Lars, Viksna, Juris, Celms, Edgars, Jackson, Sharon M, Abedi-Ardekani, Behnoush, Warren, Anne Y, Selby, Peter J, Trainor, Sebastian, Kimuli, Michael, Cartledge, Jon, Soomro, Naeem, Adeyoju, Adebanji, Patel, Poulam M, Wozniak, Magdalena B, Holcatova, Ivana, Brisuda, Antonin, Janout, Vladimir, Chanudet, Estelle, Zaridze, David, Moukeria, Anush, Shangina, Oxana, Foretova, Lenka, Navratilova, Marie, Mates, Dana, Jinga, Viorel, Bogdanovic, Ljiljana, Kovacevic, Bozidar, Cambon-Thomsen, Anne, Bourque, Guillaume, Brazma, Alvis, Tost, Jörg, Brennan, Paul, Lathrop, Mark, Riazalhosseini, Yasser, Banks, Rosamonde E
Published in Clinical cancer research (03.04.2023)
Published in Clinical cancer research (03.04.2023)
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ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies
Webb, Emma A., AlMutair, Angham, Kelberman, Daniel, Bacchelli, Chiara, Chanudet, Estelle, Lescai, Francesco, Andoniadou, Cynthia L., Banyan, Abdul, Alsawaid, Al, Alrifai, Muhammad T., Alahmesh, Mohammed A., Balwi, M., Mousavy-Gharavy, Seyedeh N., Lukovic, Biljana, Burke, Derek, McCabe, Mark J., Kasia, Tessa, Kleta, Robert, Stupka, Elia, Beales, Philip L., Thompson, Dorothy A., Chong, W. Kling, Alkuraya, Fowzan S., Martinez-Barbera, Juan-Pedro, Sowden, Jane C., Dattani, Mehul T.
Published in Brain (London, England : 1878) (01.10.2013)
Published in Brain (London, England : 1878) (01.10.2013)
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The use of whole-exome sequencing to disentangle complex phenotypes
Williams, Hywel J, Hurst, John R, Ocaka, Louise, James, Chela, Pao, Caroline, Chanudet, Estelle, Lescai, Francesco, Stanescu, Horia C, Kleta, Robert, Rosser, Elisabeth, Bacchelli, Chiara, Beales, Philip
Published in European journal of human genetics : EJHG (01.02.2016)
Published in European journal of human genetics : EJHG (01.02.2016)
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