Endovascular ultrasound renal denervation to treat hypertension (RADIANCE-HTN SOLO): a multicentre, international, single-blind, randomised, sham-controlled trial

by Azizi, Michel, Schmieder, Roland E, Mahfoud, Felix, Weber, Michael A, Davies, Justin, Basile, Jan, Kirtane, Ajay J, Wang, Yale, Lobo, Melvin D, Saxena, Manish, Rader, Florian, Levy, Terry, Sanghvi, Kintur, Fisher, Naomi D L, Bloch, Michael J, Coleman, Leslie, Mauri, Laura, Jay, Desmond, Schwartz, Robert, Victor, Ronald, Sanghvi, Kintur, Costello, Josh, Walsh, Courtney, Owan, Theophilus, Abraham, Anu, Williams, Jonathan, Bloch, Michael J., Roongsritong, Chanwit, Basile, Jan, Powers, Eric, Fong, Pete, Laffer, Cheryl, Reilly, John P., Cash, Michael, Goldman, Jessie, Aggarwal, Sandeep, Martin, Scott, Portnay, Edward, McElderry, Thomas, Maddox, William, Oparil, Suzanne, Huang, Pei-Hsiu, Jose, Powell, Barb, Ilie, Garasic, Joseph, Rosenfield, Kenneth, Lea, Janice, Wells, Bryan, Stouffer, Rick, Hinderliter, Alan, Pauley, Eric, Shishehbor, Mehdi, Costa, Marco, Kirtane, Ajay J., Radhakrishnan, Jai, Lobo, Melvin D., Mathur, Anthony, Jain, Ajay, Sayer, Jeremy, Iyer, Sudha Ganesh, Robinson, Nicholas, Edroos, Sadat Ali, Levy, Terry, Beckett, David, Bent, Clare, Davies, Justin, Chapman, Neil, Howard, James, Sharp, Andrew S.P., Joseph, Anil, D'Souza, Richard, Gerber, Robert, Faris, Mohamad, Lurz, Philipp, Höllriegel, Robert, Mahfoud, Felix, Böhm, Michael, Lucic, Jelena, Schmieder, Roland E., Ott, Christian, Schmid, Axel, Rump, L. Christian, Stegbauer, Johannes, Kröpil, Patric, Azizi, Michel, Sapoval, Marc, Cornu, Erika, Fouassier, David, Gosse, Philippe, Cremer, Antoine, Papadopoulos, Panteleimon, Pathak, Atul, Honton, Benjamin, Courand, Pierre-Yves, Daemen, Joost, Feyz, Lida, Blankestijn, Peter J., Rittersma, Zwaantina, Kroon, A.A., Renkin, Jean
Published in The Lancet (British edition)

Cryptic transmission of SARS-CoV-2 in Washington state

by Bedford, Trevor, Greninger, Alexander L, Roychoudhury, Pavitra, Starita, Lea M, Famulare, Michael, Huang, Meei-Li, Nalla, Arun, Pepper, Gregory, Reinhardt, Adam, Xie, Hong, Shrestha, Lasata, Nguyen, Truong N, Adler, Amanda, Brandstetter, Elisabeth, Cho, Shari, Giroux, Danielle, Han, Peter D, Fay, Kairsten, Frazar, Chris D, Ilcisin, Misja, Lacombe, Kirsten, Lee, Jover, Kiavand, Anahita, Richardson, Matthew, Sibley, Thomas R, Truong, Melissa, Wolf, Caitlin R, Nickerson, Deborah A, Rieder, Mark J, Englund, Janet A, Hadfield, James, Hodcroft, Emma B, Huddleston, John, Moncla, Louise H, Müller, Nicola F, Neher, Richard A, Deng, Xianding, Gu, Wei, Federman, Scot, Chiu, Charles, Duchin, Jeffrey S, Gautom, Romesh, Melly, Geoff, Hiatt, Brian, Dykema, Philip, Lindquist, Scott, Queen, Krista, Tao, Ying, Uehara, Anna, Tong, Suxiang, MacCannell, Duncan, Armstrong, Gregory L, Baird, Geoffrey S, Chu, Helen Y, Shendure, Jay, Jerome, Keith R
Published in Science

Revealing the complex genetic architecture of obsessive-compulsive disorder using meta-analysis

by Arnold, Paul D, Askland, Kathleen D, Barlassina, Cristina, Bellodi, Laura, Bienvenu, O J, Black, Donald, Bloch, Michael, Brentani, Helena, Burton, Christie L, Camarena, Beatriz, Cappi, Carolina, Cath, Danielle, Cavallini, Maria, Conti, David, Cook, Edwin, Coric, Vladimir, Cullen, Bernadette A, Cusi, Danielle, Davis, Lea K, Delorme, Richard, Denys, Damiaan, Derks, Eske, Eapen, Valsamma, Edlund, Christopher, Erdman, Lauren, Falkai, Peter, Figee, Ma, Fyer, Abigail J, Geller, Daniel A, Goes, Fernando S, Grabe, Hans, Grados, Marcos A, Greenberg, Benjamin D, Grünblatt, Edna, Guo, Wei, Hanna, Gregory L, Hemmings, Sian, Hounie, Ana G, Jenicke, Michael, Keenan, Clare, Kennedy, James, Khramtsova, Ekaterina A, Konkashbaev, Anuar, Knowles, James A, Krasnow, Janice, Lange, Cristophe, Lanzagorta, Nuria, Leboyer, Marion, Lennertz, Leonhard, Li, Bingbin, Liang, K-Y, Lochner, Christine, Macciardi, Fabio, Maher, Brion, Maier, Wolfgang, Marconi, Maurizio, Mathews, Carol A, Matthesien, Manuel, McCracken, James T, McLaughlin, Nicole C, Miguel, Euripedes C, Moessner, Rainald, Murphy, Dennis L, Neale, Benjamin, Nestadt, Gerald, Nestadt, Paul, Nicolini, Humberto, Nurmi, Ericka, Osiecki, Lisa, Pauls, David L, Piacentini, John, Posthuma, Danielle, Pulver, Ann E, Qin, H-D, Rasmussen, Steven A, Rauch, Scott, Richter, Margaret A, Riddle, Mark A, Ripke, Stephan, Ruhrmann, Stephan, Sampaio, Aline S, Samuels, Jack F, Scharf, Jeremiah M, Shugart, Yin Yao, Smit, Jan, Stein, Daniel, Stewart, S Evelyn, Turiel, Maurizio, Vallada, Homero, Veenstra-VanderWeele, Jeremy, Wagner, Michael, Walitza, Susanne, Wang, Y, Wendland, Jens, Vulink, Nienke, Yu, Dongmei, Zai, Gwyneth
Published in Molecular psychiatry

Effect of a 24-Month Physical Activity Intervention vs Health Education on Cognitive Outcomes in Sedentary Older Adults: The LIFE Randomized Trial

by Sink, Kaycee M, Espeland, Mark A, Castro, Cynthia M, Church, Timothy, Cohen, Ron, Dodson, John A, Guralnik, Jack, Hendrie, Hugh C, Jennings, Janine, Katula, Jeffery, Lopez, Oscar L, McDermott, Mary M, Pahor, Marco, Reid, Kieran F, Rushing, Julia, Verghese, Joe, Rapp, Stephen, Williamson, Jeff D
Published in JAMA : the journal of the American Medical Association

Discovering dominant tumor immune archetypes in a pan-cancer census

by Combes, Alexis J., Samad, Bushra, Tsui, Jessica, Chew, Nayvin W., Yan, Peter, Reeder, Gabriella C., Kushnoor, Divyashree, Shen, Alan, Davidson, Brittany, Barczak, Andrea J., Adkisson, Michael, Edwards, Austin, Naser, Mohammad, Barry, Kevin C., Courau, Tristan, Hammoudi, Taymour, Argüello, Rafael J., Rao, Arjun Arkal, Olshen, Adam B., Spitzer, Matthew, Fong, Lawrence, Nelson, Amanda, Kumar, Raj, Lee, Justin, Burra, Arun, Hsu, Joy, Hackett, Caroline, Tolentino, Karen, Sjarif, Jasmine, Johnson, Peter, Shao, Evans, Abrau, Darrell, Lupin, Leonard, Shaw, Cole, Collins, Zachary, Lea, Tasha, Corvera, Carlos, Nakakura, Eric, Carnevale, Julia, Alvarado, Michael, Loo, Kimberley, Chen, Lawrence, Chow, Melissa, Grandis, Jennifer, Ryan, Will, El-Sayed, Ivan, Jablons, David, Woodard, Gavitt, Meng, Maxwell W., Porten, Sima P., Okada, Hideho, Tempero, Margaret, Ko, Andrew, Kirkwood, Kim, Vandenberg, Scott, Guevarra, Denise, Oropeza, Erica, Cyr, Chris, Glenn, Pat, Bolen, Jennifer, Morton, Amanda, Eckalbar, Walter, Cai, Cathy, Zhan, Jenny, Davis, Katelyn C., Kelley, Robin K., Chapman, Jocelyn S., Atreya, Chloe E., Patel, Amar, Daud, Adil I., Ha, Patrick, Diaz, Aaron A., Kratz, Johannes R., Collisson, Eric A., Fragiadakis, Gabriela K., Erle, David J., Boissonnas, Alexandre, Asthana, Saurabh, Chan, Vincent, Krummel, Matthew F.
Published in Cell

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

by Ibañez, Kristina, Polke, James, Hagelstrom, R Tanner, Dolzhenko, Egor, Pasko, Dorota, Thomas, Ellen Rachel Amy, Smith, Katherine R, McDonagh, Ellen M, Polychronopoulos, Dimitris, Chan, Georgia, Davison, James E, Festenstein, Richard, Fratta, Pietro, Giunti, Paola, Howard, Robin, Venkata, Laxmi, Laurá, Matilde, Morris, Huw, Robinson, Robert, Rosser, Elisabeth, Faravelli, Francesca, Schrag, Anette, Schott, Jonathan M, Wood, Nicholas W, Bourn, David, Eggleton, Kelly, Twiss, Philip, Almheiri, Ghareesa, Sheikh, Isabella, Vandrovcova, Jana, Brittain, Helen, Baple, Emma, Moutsianas, Loukas, Deshpande, Viraj, Perry, Denise L, Ajay, Subramanian S., Rajan, Vani, Oprych, Kathryn, Chinnery, Patrick F, Wilson, Gill, Ellard, Sian, Temple, I Karen, McMullan, Dom, Naresh, Kikkeri, Flinter, Frances A, Taylor, Jenny C, Greenhalgh, Lynn, Newman, William, Brennan, Paul, Sayer, John A, Raymond, F Lucy, Deans, Zandra C, Hill, Sue, Fowler, Tom, Scott, Richard H, Chinnery, Patrick F, Rendon, Augusto, Eberle, Michael A, Taft, Ryan J, Arumugam, Prabhu, Bleda, Marta, Boardman-Pretty, Freya, Boissiere, Jeanne M., Devereau, Andrew, Elgar, Greg, Foulger, Rebecca E., Furió-Tarí, Pedro, Hackett, Joanne, Hamblin, Angela, Holman, James, Hubbard, Tim J.P., Jones, Louise J., Kayikci, Melis, Lawson, Kay, Leigh, Sarah E.A., Leong, Ivonne U.S., Maleady-Crowe, Fiona, Mason, Joanne, Mueller, Michael, Murugaesu, Nirupa, Odhams, Chris A., Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Riesgo-Ferreiro, Pablo, Ryten, Mina, Savage, Kevin, Sawant, Kushmita, Sieghart, Alexander, Smedley, Damian, Sosinsky, Alona, Spooner, William, Stevens, Helen E., Stuckey, Alexander, Sultana, Razvan, Tregidgo, Carolyn, Walsh, Emma, Watters, Sarah A., Williams, Eleanor, Zarowiecki, Magdalena
Published in Lancet neurology

A Polygenic and Phenotypic Risk Prediction for Polycystic Ovary Syndrome Evaluated by Phenome-Wide Association Studies

by Joo, Yoonjung Yoonie, Actkins, Ky’Era, Pacheco, Jennifer A, Basile, Anna O, Carroll, Robert, Crosslin, David R, Day, Felix, Denny, Joshua C, Velez Edwards, Digna R, Hakonarson, Hakon, Harley, John B, Hebbring, Scott J, Ho, Kevin, Jarvik, Gail P, Jones, Michelle, Karaderi, Tugce, Mentch, Frank D, Meun, Cindy, Namjou, Bahram, Pendergrass, Sarah, Ritchie, Marylyn D, Stanaway, Ian B, Urbanek, Margrit, Walunas, Theresa L, Smith, Maureen, Chisholm, Rex L, Kho, Abel N, Davis, Lea, Hayes, M Geoffrey
Published in The journal of clinical endocrinology and metabolism

Signatures of TOP1 transcription-associated mutagenesis in cancer and germline

by Reijns, Martin A M, Parry, David A, Williams, Thomas C, Nadeu, Ferran, Hindshaw, Rebecca L, Rios Szwed, Diana O, Nicholson, Michael D, Carroll, Paula, Boyle, Shelagh, Royo, Romina, Cornish, Alex J, Xiang, Hang, Ridout, Kate, Schuh, Anna, Aden, Konrad, Palles, Claire, Campo, Elias, Stankovic, Tatjana, Taylor, Martin S, Jackson, Andrew P
Published in Nature (London)

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study

by Schon, Katherine R, Horvath, Rita, Wei, Wei, Calabrese, Claudia, Tucci, Arianna, Ibañez, Kristina, Ratnaike, Thiloka, Pitceathly, Robert D S, Bugiardini, Enrico, Quinlivan, Rosaline, Hanna, Michael G, Clement, Emma, Ashton, Emma, Sayer, John A, Brennan, Paul, Josifova, Dragana, Izatt, Louise, Fratter, Carl, Nesbitt, Victoria, Barrett, Timothy, McMullen, Dominic J, Smith, Audrey, Deshpande, Charulata, Smithson, Sarah F, Festenstein, Richard, Canham, Natalie, Caulfield, Mark, Houlden, Henry, Rahman, Shamima, Chinnery, Patrick F, Ambrose, John C, Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R, Brittain, Helen, Caulfield, Mark J, Chan, Georgia C, Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J P, Jackson, Rob, Jones, Louise J, Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E A, Leong, Ivonne U S, Lopez, Javier F, Maleady-Crowe, Fiona, McEntegart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C, O’Donovan, Peter, Odhams, Chris A, Patch, Christine, Buonerimo Pereira, Mariana, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H, Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C, Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R A, Thompson, Simon R, Tucci, Arianna, Welland, Matthew J, Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M
Published in BMJ (Online)

Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition

by Martins Custodio, Helena, Clayton, Lisa M, Bellampalli, Ravishankara, Pagni, Susanna, Silvennoinen, Katri, Caswell, Richard, Brunklaus, Andreas, Guerrini, Renzo, Koeleman, Bobby P C, Lemke, Johannes R, Møller, Rikke S, Scheffer, Ingrid E, Weckhuysen, Sarah, Zara, Federico, Zuberi, Sameer, Kuchenbaecker, Karoline, Balestrini, Simona, Mills, James D, Sisodiya, Sanjay M
Published in Brain (London, England : 1878)

The Lifestyle Interventions and Independence for Elders Study: Design and Methods

by Fielding, Roger A, Rejeski, W. Jack, Blair, Steven, Church, Tim, Espeland, Mark A, Gill, Thomas M, Guralnik, Jack M, Hsu, Fang-Chi, Katula, Jeffrey, King, Abby C, Kritchevsky, Stephen B, McDermott, Mary M, Miller, Michael E, Nayfield, Susan, Newman, Anne B, Williamson, Jeff D, Bonds, Denise, Romashkan, Sergei, Hadley, Evan, Pahor, Marco
Published in The journals of gerontology. Series A, Biological sciences and medical sciences

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

by Vetro, Annalisa, Pelorosso, Cristiana, Balestrini, Simona, Masi, Alessio, Hambleton, Sophie, Argilli, Emanuela, Giubbolini, Simone, Barrick, Rebekah, Bergant, Gaber, Writzl, Karin, Bijlsma, Emilia K., Cacheiro, Pilar, Mei, Davide, Devlin, Anita, Machol, Keren, Mannaioni, Guido, Sakamoto, Masamune, Menezes, Manoj P., Courtin, Thomas, Sherr, Elliott, Parra, Riccardo, Richardson, Ruth, Roscioli, Tony, Scala, Marcello, von Stülpnagel, Celina, Smedley, Damian, Pochiero, Francesca, Ramesh, Venkateswaran, Capra, Valeria, Mancardi, Margherita, Keren, Boris, Mignot, Cyiril, Lulli, Matteo, Parks, Kendall, Griffin, Helen, Nigro, Vincenzo, Hirata, Yuko, Koichihara, Reiko, Peterlin, Borut, Maki, Ryuto, Nitta, Yohei, Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boustred, Christopher R., Brittain, Helen, Brown, Matthew A., Caulfield, Mark J., Chan, Georgia C., Giess, Adam, Griffin, John N., Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Lakey, Anna, Lopez, Javier F., Maleady-Crowe, Fiona, Minneci, Federico, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Rahim, Tahrima, Rendon, Augusto, Sawant, Kushmita, Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena, Torella, Annalaura, Tohyama, Jun, Hamada, Keisuke, Ogata, Kazuhiro, Sugie, Atsushi, van der Smagt, Jasper J., van Gassen, Koen, Valence, Stephanie, Vittery, Emma, Malone, Stephen, Kato, Mitsuhiro, Ratto, Gian Michele, Guerrini, Renzo
Published in American journal of human genetics

Spectrum of mutational signatures in T-cell lymphoma reveals a key role for UV radiation in cutaneous T-cell lymphoma

by Jones, Christine L, Degasperi, Andrea, Grandi, Vieri, Amarante, Tauanne D, Mitchell, Tracey J, Nik-Zainal, Serena, Whittaker, Sean J
Published in Scientific reports

Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease

by Claus, Laura R, Chen, Chuan, Stallworth, Jennifer, Turner, Joshua L, Slaats, Gisela G, Hawks, Alexandra L, Mabillard, Holly, Senum, Sarah R, Srikanth, Sujata, Flanagan-Steet, Heather, Louie, Raymond J, Silver, Josh, Lerner-Ellis, Jordan, Morel, Chantal, Mighton, Chloe, Sleutels, Frank, van Slegtenhorst, Marjon, van Ham, Tjakko, Brooks, Alice S, Dorresteijn, Eiske M, Barakat, Tahsin Stefan, Dahan, Karin, Demoulin, Nathalie, Goffin, Eric Jean, Olinger, Eric, Larsen, Martin, Hertz, Jens Michael, Lilien, Marc R, Obeidová, Lena, Seeman, Tomas, Stone, Hillarey K, Kerecuk, Larissa, Gurgu, Mihai, Yousef Yengej, Fjodor A, Ammerlaan, Carola M E, Rookmaaker, Maarten B, Hanna, Christian, Rogers, R Curtis, Duran, Karen, Peters, Edith, Sayer, John A, van Haaften, Gijs, Harris, Peter C, Ling, Kun, Mason, Jennifer M, van Eerde, Albertien M, Steet, Richard
Published in Kidney international

Machine learning algorithm improves the detection of NASH (NAS-based) and at-risk NASH: A development and validation study

by Lee, Jenny, Westphal, Max, Vali, Yasaman, Boursier, Jerome, Petta, Salvatorre, Ostroff, Rachel, Alexander, Leigh, Chen, Yu, Fournier, Celine, Geier, Andreas, Francque, Sven, Wonders, Kristy, Tiniakos, Dina, Bedossa, Pierre, Allison, Mike, Papatheodoridis, Georgios, Cortez-Pinto, Helena, Pais, Raluca, Dufour, Jean-Francois, Leeming, Diana Julie, Harrison, Stephen, Cobbold, Jeremy, Holleboom, Adriaan G, Yki-Järvinen, Hannele, Crespo, Javier, Ekstedt, Mattias, Aithal, Guruprasad P, Bugianesi, Elisabetta, Romero-Gomez, Manuel, Torstenson, Richard, Karsdal, Morten, Yunis, Carla, Schattenberg, Jörn M, Schuppan, Detlef, Ratziu, Vlad, Brass, Clifford, Duffin, Kevin, Zwinderman, Koos, Pavlides, Michael, Anstee, Quentin M, Bossuyt, Patrick M
Published in Hepatology (Baltimore, Md.)

Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population

by Zanovello, Matteo, Ibáñez, Kristina, Brown, Anna-Leigh, Sivakumar, Prasanth, Bombaci, Alessandro, Santos, Liana, van Vugt, Joke J F A, Narzisi, Giuseppe, Karra, Ramita, Scholz, Sonja W, Ding, Jinhui, Gibbs, J Raphael, Chiò, Adriano, Dalgard, Clifton, Weisburd, Ben, Hanna, Michael G, Greensmith, Linda, Phatnani, Hemali, Veldink, Jan H, Traynor, Bryan J, Polke, James, Houlden, Henry, Fratta, Pietro, Tucci, Arianna
Published in Brain (London, England : 1878)

Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease

by Sadeghi-Alavijeh, Omid, Chan, Melanie M Y, Moochhala, Shabbir H, Howles, Sarah, Gale, Daniel P, Böckenhauer, Detlef
Published in Kidney international

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

by Pagnamenta, Alistair T, Kaiyrzhanov, Rauan, Zou, Yaqun, Da'as, Sahar I, Maroofian, Reza, Donkervoort, Sandra, Dominik, Natalia, Lauffer, Marlen, Ferla, Matteo P, Orioli, Andrea, Giess, Adam, Tucci, Arianna, Beetz, Christian, Sedghi, Maryam, Ansari, Behnaz, Barresi, Rita, Basiri, Keivan, Cortese, Andrea, Elgar, Greg, Fernandez-Garcia, Miguel A, Yip, Janice, Foley, A Reghan, Gutowski, Nicholas, Jungbluth, Heinz, Lassche, Saskia, Lavin, Tim, Marcelis, Carlo, Marks, Peter, Marini-Bettolo, Chiara, Medne, Livija, Moslemi, Ali-Reza, Sarkozy, Anna, Reilly, Mary M, Muntoni, Francesco, Millan, Francisca, Muraresku, Colleen C, Need, Anna C, Nemeth, Andrea H, Neuhaus, Sarah B, Norwood, Fiona, O'Donnell, Marie, O'Driscoll, Mary, Rankin, Julia, Yum, Sabrina W, Zolkipli-Cunningham, Zarazuela, Brusius, Isabell, Wunderlich, Gilbert, Karakaya, Mert, Wirth, Brunhilde, Fakhro, Khalid A, Tajsharghi, Homa, Bönnemann, Carsten G, Taylor, Jenny C, Houlden, Henry
Published in Brain (London, England : 1878)

Abstract B35: Australian Ovarian Cancer Assortment Trial–Allocating ovarian cancer patients into clinical trials based on molecular profiling

by Kondrashova, Olga, Au-Yeung, George, Leas, Leakhena, Ho, Gwo-Yaw, Lunke, Sebastian, Alsop, Kathryn, Scott, Clare, Hamilton, Anne, Ananda, Sumitra, Freimund, Alison, Quinn, Michael, McNally, Orla, Traficante, Nadia, Cowie, Tiffany, Wakefield, Matthew, Hsu, Arthur, Dobrovic, Alex, Christie, Michael, Taylor, Graham, Bowtell, David, Mileshkin, Linda, Waring, Paul
Published in Clinical cancer research

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile

by Al-Jawahiri, Reem, Foroutan, Aidin, McConkey, Haley, Levy, Michael, Haghshenas, Sadegheh, Rooney, Kathleen, Turner, Jasmin, Shears, Debbie, Holder, Muriel, Lefroy, Henrietta, Castle, Bruce, Reis, Linda M., Semina, Elena V., Nickerson, Deborah, Bamshad, Michael, Leal, Suzanne, Lachlan, Katherine, Chandler, Kate, Clayton-Smith, Jill, Hug, Franziska Phan, Pitteloud, Nelly, Bartoloni, Lucia, Hoffjan, Sabine, Park, Soo-Mi, Thankamony, Ajay, Lees, Melissa, Wakeling, Emma, Naik, Swati, Hanker, Britta, Girisha, Katta M., Agolini, Emanuele, Giuseppe, Zampino, Alban, Ziegler, Tessarech, Marine, Keren, Boris, Afenjar, Alexandra, Zweier, Christiane, Smol, Thomas, Nobuhiko, Okamoto, Sekiguchi, Futoshi, Tsuchida, Naomi, Matsumoto, Naomichi, Kou, Ikuyo, Yonezawa, Yoshiro, Ikegawa, Shiro, Callewaert, Bert, Ambrose, John C., Arumugam, Prabhu, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Caulfield, Mark J., Chan, Georgia C., Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., FionaMaleady-Crowe, McEntagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., Odhams, Chris A., Patch, Christine, Perez-Gil, Daniel, Pullinger, John, Rendon, Augusto, TimRogers, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Williams, Eleanor, Kleinendorst, Lotte, Donaldson, Alan, Alders, Marielle, De Paepe, Anne, Sadikovic, Bekim, McNeill, Alisdair
Published in Genetics in medicine