The use of whole-exome sequencing to disentangle complex phenotypes

por 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
Publicado 2016

The PI3K/mTOR Pathway Is Targeted by Rare Germline Variants in Patients with Both Melanoma and Renal Cell Carcinoma

por Hubert, Jean-Noël, Suybeng, Voreak, Vallée, Maxime, Delhomme, Tiffany M., Maubec, Eve, Boland, Anne, Bacq, Delphine, Deleuze, Jean-François, Jouenne, Fanélie, Brennan, Paul, McKay, James D., Avril, Marie-Françoise, Bressac-de Paillerets, Brigitte, Chanudet, Estelle
Publicado 2021

Multiple Congenital Melanocytic Nevi and Neurocutaneous Melanosis Are Caused by Postzygotic Mutations in Codon 61 of NRAS

por 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
Publicado 2013

Mutation of SALL2 causes recessive ocular coloboma in humans and mice

por Kelberman, Daniel, Islam, Lily, Lakowski, Jörn, Bacchelli, Chiara, Chanudet, Estelle, Lescai, Francesco, Patel, Aara, Stupka, Elia, Buck, Anja, Wolf, Stephan, Beales, Philip L., Jacques, Thomas S., Bitner-Glindzicz, Maria, Liasis, Alki, Lehmann, Ordan J., Kohlhase, Jürgen, Nischal, Ken K., Sowden, Jane C.
Publicado 2014

Acute Inhibition of MEK Suppresses Congenital Melanocytic Nevus Syndrome in a Murine Model Driven by Activated NRAS and Wnt Signaling

por 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
Publicado 2015

Morphological findings in frozen non-neoplastic kidney tissues of patients with kidney cancer from large-scale multicentric studies on renal cancer

por 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
Publicado 2021

Identification of Circulating Tumor DNA for the Early Detection of Small-cell Lung Cancer

por 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
Publicado 2016

Sexual dimorphism in cancer: insights from transcriptional signatures in kidney tissue and renal cell carcinoma

por 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
Publicado 2021

Characterisation and Validation of Insertions and Deletions in 173 Patient Exomes

por 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
Publicado 2012

The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes

por 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
Publicado 2015

Application of Genomic Sequencing to Refine Patient Stratification for Adjuvant Therapy in Renal Cell Carcinoma

por 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.
Publicado 2023