Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1

por Lopes, Alexandra M., Aston, Kenneth I., Thompson, Emma, Carvalho, Filipa, Gonçalves, João, Huang, Ni, Matthiesen, Rune, Noordam, Michiel J., Quintela, Inés, Ramu, Avinash, Seabra, Catarina, Wilfert, Amy B., Dai, Juncheng, Downie, Jonathan M., Fernandes, Susana, Guo, Xuejiang, Sha, Jiahao, Amorim, António, Barros, Alberto, Carracedo, Angel, Hu, Zhibin, Hurles, Matthew E., Moskovtsev, Sergey, Ober, Carole, Paduch, Darius A., Schiffman, Joshua D., Schlegel, Peter N., Sousa, Mário, Carrell, Douglas T., Conrad, Donald F.
Publicado 2013

High throughput exome coverage of clinically relevant cardiac genes

por Manase, Dorin, D’Alessandro, Lisa CA, Manickaraj, Ashok Kumar, Al Turki, Saeed, Hurles, Matthew E, Mital, Seema
Publicado 2014

Autophagy resolves early retinal inflammation in Igf1-deficient mice

por Arroba, Ana I., Rodríguez-de la Rosa, Lourdes, Murillo-Cuesta, Silvia, Vaquero-Villanueva, Laura, Hurlé, Juan M., Varela-Nieto, Isabel, Valverde, Ángela M.
Publicado 2016

Clinical and molecular consequences of disease-associated de novo mutations in SATB2

por Bengani, Hemant, Handley, Mark, Alvi, Mohsan, Ibitoye, Rita, Lees, Melissa, Lynch, Sally Ann, Lam, Wayne, Fannemel, Madeleine, Nordgren, Ann, Malmgren, H., Kvarnung, M., Mehta, Sarju, McKee, Shane, Whiteford, Margo, Stewart, Fiona, Connell, Fiona, Clayton-Smith, Jill, Mansour, Sahar, Mohammed, Shehla, Fryer, Alan, Morton, Jenny, Grozeva, Detelina, Asam, Tara, Moore, David, Sifrim, Alejandro, McRae, Jeremy, Hurles, Matthew E., Firth, Helen V., Raymond, F. Lucy, Kini, Usha, Nellåker, Christoffer, DDD study, FitzPatrick, David R.
Publicado 2017

Targeted 11C–choline PET-CT/TRUS software fusion-guided prostate biopsy in men with persistently elevated PSA and negative mpMRI after previous negative biopsy

por Lazzeri, Massimo, Lopci, Egesta, Lughezzani, Giovanni, Colombo, Piergiuseppe, Casale, Paolo, Hurle, Rodolfo, Saita, Alberto, Leonardi, Lorenzo, Lista, Giuliana, Peschechera, Roberto, Pasini, Luisa, Rodari, Marcello, Zandegiacomo, Silvia, Benetti, Alessio, Cardone, Pasquale, Mrakic, Federica, Balzarini, Luca, Chiti, Arturo, Guazzoni, Giorgio, Buffi, Nicolò Maria
Publicado 2017

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

por Sifrim, Alejandro, Hitz, Marc-Phillip, Wilsdon, Anna, Breckpot, Jeroen, Al Turki, Saeed H., Thienpont, Bernard, McRae, Jeremy, Fitzgerald, Tomas W, Singh, Tarjinder, Swaminathan, Ganesh Jawahar, Prigmore, Elena, Rajan, Diana, Abdul-Khaliq, Hashim, Banka, Siddharth, Bauer, Ulrike M. M., Bentham, Jamie, Berger, Felix, Bhattacharya, Shoumo, Bu'Lock, Frances, Canham, Natalie, Colgiu, Irina-Gabriela, Cosgrove, Catherine, Cox, Helen, Daehnert, Ingo, Daly, Allan, Danesh, John, Fryer, Alan, Gewillig, Marc, Hobson, Emma, Hoff, Kirstin, Homfray, Tessa, Kahlert, Anne-Karin, Ketley, Ami, Kramer, Hans-Heiner, Lachlan, Katherine, Lampe, Anne Katrin, Louw, Jacoba J., Manickara, Ashok Kumar, Manase, Dorin, McCarthy, Karen P., Metcalfe, Kay, Moore, Carmel, Newbury-Ecob, Ruth, Omer, Seham Osman, Ouwehand, Willem H., Park, Soo-Mi, Parker, Michael J., Pickardt, Thomas, Pollard, Martin O., Robert, Leema, Roberts, David J., Sambrook, Jennifer, Setchfield, Kerry, Stiller, Brigitte, Thornborough, Chris, Toka, Okan, Watkins, Hugh, Williams, Denise, Wright, Michael, Mital, Seema, Daubeney, Piers E. F., Keavney, Bernard, Goodship, Judith, Abu-Sulaiman, Riyadh Mahdi, Klaassen, Sabine, Wright, Caroline F., Firth, Helen V., Barrett, Jeffrey C., Devriendt, Koenraad, FitzPatrick, David R., Brook, J. David, Hurles, Matthew
Publicado 2016

Predictors of Residual T1 High Grade on Re-Transurethral Resection in a Large Multi-Institutional Cohort of Patients with Primary T1 High-Grade/Grade 3 Bladder Cancer

por Ferro, Matteo, Di Lorenzo, Giuseppe, Buonerba, Carlo, Lucarelli, Giuseppe, Russo, Giorgio Ivan, Cantiello, Francesco, Farhan, Abdal Rahman Abu, Di Stasi, Savino, Musi, Gennaro, Hurle, Rodolfo, Vincenzo, Serretta, Busetto, Gian Maria, De Berardinis, Ettore, Perdonà, Sisto, Borghesi, Marco, Schiavina, Riccardo, Almeida, Gilberto L., Bove, Pierluigi, Lima, Estevao, Grimaldi, Giovanni, Matei, Deliu Victor, Mistretta, Francesco Alessandro, Crisan, Nicolae, Terracciano, Daniela, Paolo, Verze, Battaglia, Michele, Guazzoni, Giorgio, Autorino, Riccardo, Morgia, Giuseppe, Damiano, Rocco, Muto, Matteo, Rocca, Roberto La, Mirone, Vincenzo, de Cobelli, Ottavio, Vartolomei, Mihai Dorin
Publicado 2018

Predicting clinically promising therapeutic hypotheses using tensor factorization

por Yao, Jin, Hurle, Mark R., Nelson, Matthew R., Agarwal, Pankaj
Publicado 2019

UHRF genes regulate programmed interdigital tissue regression and chondrogenesis in the embryonic limb

por Sanchez-Fernandez, Cristina, Lorda-Diez, Carlos I., García-Porrero, Juan A., Montero, Juan A., Hurlé, Juan M.
Publicado 2019

Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease

por Audain, Enrique, Wilsdon, Anna, Breckpot, Jeroen, Izarzugaza, Jose M. G., Fitzgerald, Tomas W., Kahlert, Anne-Karin, Sifrim, Alejandro, Wünnemann, Florian, Perez-Riverol, Yasset, Abdul-Khaliq, Hashim, Bak, Mads, Bassett, Anne S., Benson, Woodrow D., Berger, Felix, Daehnert, Ingo, Devriendt, Koenraad, Dittrich, Sven, Daubeney, Piers EF, Garg, Vidu, Hackmann, Karl, Hoff, Kirstin, Hofmann, Philipp, Dombrowsky, Gregor, Pickardt, Thomas, Bauer, Ulrike, Keavney, Bernard D., Klaassen, Sabine, Kramer, Hans-Heiner, Marshall, Christian R., Milewicz, Dianna M., Lemaire, Scott, Coselli, Joseph S., Mitchell, Michael E., Tomita-Mitchell, Aoy, Prakash, Siddharth K., Stamm, Karl, Stewart, Alexandre F. R., Silversides, Candice K., Siebert, Reiner, Stiller, Brigitte, Rosenfeld, Jill A., Vater, Inga, Postma, Alex V., Caliebe, Almuth, Brook, J. David, Andelfinger, Gregor, Hurles, Matthew E., Thienpont, Bernard, Larsen, Lars Allan, Hitz, Marc-Phillip
Publicado 2021

Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty

por Duckett, Katie, Williamson, Alice, Kincaid, John W R, Rainbow, Kara, Corbin, Laura J, Martin, Hilary C, Eberhardt, Ruth Y, Huang, Qin Qin, Hurles, Matthew E, He, Wen, Brauner, Raja, Delaney, Angela, Dunkel, Leo, Grinspon, Romina P, Hall, Janet E, Hirschhorn, Joel N, Howard, Sasha R, Latronico, Ana C, Jorge, Alexander A L, McElreavey, Ken, Mericq, Verónica, Merino, Paulina M, Palmert, Mark R, Plummer, Lacey, Rey, Rodolfo A, Rezende, Raíssa C, Seminara, Stephanie B, Salnikov, Kathryn, Banerjee, Indraneel, Lam, Brian Y H, Perry, John R B, Timpson, Nicholas J, Clayton, Peter, Chan, Yee-Ming, Ong, Ken K, O’Rahilly, Stephen
Publicado 2023

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

por Wright, Caroline F, Fitzgerald, Tomas W, Jones, Wendy D, Clayton, Stephen, McRae, Jeremy F, van Kogelenberg, Margriet, King, Daniel A, Ambridge, Kirsty, Barrett, Daniel M, Bayzetinova, Tanya, Bevan, A Paul, Bragin, Eugene, Chatzimichali, Eleni A, Gribble, Susan, Jones, Philip, Krishnappa, Netravathi, Mason, Laura E, Miller, Ray, Morley, Katherine I, Parthiban, Vijaya, Prigmore, Elena, Rajan, Diana, Sifrim, Alejandro, Swaminathan, G Jawahar, Tivey, Adrian R, Middleton, Anna, Parker, Michael, Carter, Nigel P, Barrett, Jeffrey C, Hurles, Matthew E, FitzPatrick, David R, Firth, Helen V
Publicado 2015

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73

por Jinks, Robert N., Puffenberger, Erik G., Baple, Emma, Harding, Brian, Crino, Peter, Fogo, Agnes B., Wenger, Olivia, Xin, Baozhong, Koehler, Alanna E., McGlincy, Madeleine H., Provencher, Margaret M., Smith, Jeffrey D., Tran, Linh, Al Turki, Saeed, Chioza, Barry A., Cross, Harold, Harlalka, Gaurav V., Hurles, Matthew E., Maroofian, Reza, Heaps, Adam D., Morton, Mary C., Stempak, Lisa, Hildebrandt, Friedhelm, Sadowski, Carolin E., Zaritsky, Joshua, Campellone, Kenneth, Morton, D. Holmes, Wang, Heng, Crosby, Andrew, Strauss, Kevin A.
Publicado 2015

De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects

por Priest, James R., Osoegawa, Kazutoyo, Mohammed, Nebil, Nanda, Vivek, Kundu, Ramendra, Schultz, Kathleen, Lammer, Edward J., Girirajan, Santhosh, Scheetz, Todd, Waggott, Daryl, Haddad, Francois, Reddy, Sushma, Bernstein, Daniel, Burns, Trudy, Steimle, Jeffrey D., Yang, Xinan H., Moskowitz, Ivan P., Hurles, Matthew, Lifton, Richard P., Nickerson, Debbie, Bamshad, Michael, Eichler, Evan E., Mital, Seema, Sheffield, Val, Quertermous, Thomas, Gelb, Bruce D., Portman, Michael, Ashley, Euan A.
Publicado 2016

Whole genome sequencing of a sporadic primary immunodeficiency cohort

por Thaventhiran, James E. D., Allen, Hana Lango, Burren, Oliver S., Rae, William, Greene, Daniel, Staples, Emily, Zhang, Zinan, Farmery, James H. R., Simeoni, Ilenia, Rivers, Elizabeth, Maimaris, Jesmeen, Penkett, Christopher J, Stephens, Jonathan, Deevi, Sri V.V., Sanchis-Juan, Alba, Gleadall, Nicholas S, Thomas, Moira J., Sargur, Ravishankar B., Gordins, Pavels, Baxendale, Helen E., Brown, Matthew, Tuijnenburg, Paul, Worth, Austen, Hanson, Steven, Linger, Rachel, Buckland, Matthew S., Rayner-Matthews, Paula J., Gilmour, Kimberly C., Samarghitean, Crina, Seneviratne, Suranjith L., Sansom, David M., Lynch, Andy G., Megy, Karyn, Ellinghaus, Eva, Ellinghaus, David, Jorgensen, Silje F., Karlsen, Tom H, Stirrups, Kathleen E., Cutler, Antony J., Kumararatne, Dinakantha S., Chandra, Anita, Edgar, J. David M., Herwadkar, Archana, Cooper, Nichola, Grigoriadou, Sofia, Huissoon, Aarnoud, Goddard, Sarah, Jolles, Stephen, Schuetz, Catharina, Boschann, Felix, Lyons, Paul A., Hurles, Matthew E., Savic, Sinisa, Burns, Siobhan O., Kuijpers, Taco W., Turro, Ernest, Ouwehand, Willem H., Thrasher, Adrian J., Smith, Kenneth G. C.
Publicado 2020

Modified Glasgow Prognostic Score as a Predictor of Recurrence in Patients with High Grade Non-Muscle Invasive Bladder Cancer Undergoing Intravesical Bacillus Calmette–Guerin Immun...

por Ferro, Matteo, Tătaru, Octavian Sabin, Musi, Gennaro, Lucarelli, Giuseppe, Abu Farhan, Abdal Rahman, Cantiello, Francesco, Damiano, Rocco, Hurle, Rodolfo, Contieri, Roberto, Busetto, Gian Maria, Carrieri, Giuseppe, Cormio, Luigi, Del Giudice, Francesco, Sciarra, Alessandro, Perdonà, Sisto, Borghesi, Marco, Terrone, Carlo, La Civita, Evelina, Bove, Pierluigi, Autorino, Riccardo, Muto, Matteo, Crisan, Nicolae, Marchioni, Michele, Schips, Luigi, Soria, Francesco, Terracciano, Daniela, Papalia, Rocco, Crocetto, Felice, Barone, Biagio, Russo, Giorgio Ivan, Luzzago, Stefano, Ludovico, Giuseppe Mario, Vartolomei, Mihai Dorin, Mistretta, Francesco Alessandro, Mirone, Vincenzo, de Cobelli, Ottavio
Publicado 2022

Radical Nephroureterectomy Tetrafecta: A Proposal Reporting Surgical Strategy Quality at Surgery

por Soria, Francesco, Pradere, B., Hurle, R., D'Andrea, D., Albisinni, S., Diamand, R., Laukhtina, E., Di Trapani, E., Aziz, A., Krajewski, W., Teoh, J.Y., Mari, A., Moschini, M., Chiancone, F., Autorino, R., Porreca, A., Marchioni, M., Liguori, G., Lucarelli, G., Busetto, G.M., Foschi, N., Antonelli, A., Bove, P., Russo, G.I., Crisan, N., Borghesi, M., Boeri, L., Veccia, A., Greco, F., Longo, N., De Cobelli, O., Shariat, S.F., Gontero, P., Ferro, M.
Publicado 2022

Prospective Validation of the ROL System in Substaging pT1 High-Grade Urothelial Carcinoma: Results from a Mono-Institutional Confirmatory Analysis in BCG Treated Patients

por Valeri, Marina, Contieri, Roberto, Fasulo, Vittorio, Iuzzolino, Martina, Cieri, Miriam, Elefante, Grazia M., De Carlo, Camilla, Bressan, Alessandra, Saitta, Cesare, Gobbo, Andrea, Avolio, Pier Paolo, Dacrema, Valerio, Lazzeri, Massimo, Taverna, Gianluigi, Terracciano, Luigi M., Hurle, Rodolfo, Colombo, Piergiuseppe
Publicado 2023

Systemic combining inflammatory score (SCIS): a new score for prediction of oncologic outcomes in patients with high-risk non-muscle-invasive urothelial bladder cancer

por Ferro, Matteo, Di Mauro, Marina, Cimino, Sebastiano, Morgia, Giuseppe, Lucarelli, Giuseppe, Abu Farhan, Abdal Rahman, Vartolomei, Mihai Dorin, Porreca, Angelo, Cantiello, Francesco, Damiano, Rocco, Busetto, Gian Maria, Del Giudice, Francesco, Hurle, Rodolfo, Perdonà, Sisto, Borghesi, Marco, Bove, Pierluigi, Autorino, Riccardo, Crisan, Nicolae, Marchioni, Michele, Schips, Luigi, Soria, Francesco, Mari, Andrea, Minervini, Andrea, Veccia, Alessandro, Battaglia, Michele, Terracciano, Daniela, Musi, Gennaro, Cordima, Giovanni, Muto, Matteo, Mirone, Vincenzo, de Cobelli, Ottavio, Russo, Giorgio Ivan
Publicado 2021

Assessing the Role of High-resolution Microultrasound Among Naïve Patients with Negative Multiparametric Magnetic Resonance Imaging and a Persistently High Suspicion of Prostate Ca...

por Avolio, Pier Paolo, Lughezzani, Giovanni, Fasulo, Vittorio, Maffei, Davide, Sanchez-Salas, Rafael, Paciotti, Marco, Saitta, Cesare, De Carne, Fabio, Saita, Alberto, Hurle, Rodolfo, Lazzeri, Massimo, Guazzoni, Giorgio, Buffi, Nicolò Maria, Casale, Paolo
Publicado 2022