Showing 1 - 20 results of 31 for search '"Racher, Hilary"', query time: 2.91s Refine Results  

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

by Wheway, Gabrielle, Schmidts, Miriam, Mans, Dorus A., Szymanska, Katarzyna, Nguyen, Thanh-Minh T., Racher, Hilary, Phelps, Ian G., Toedt, Grischa, Kennedy, Julie, Wunderlich, Kirsten A., Sorusch, Nasrin, Abdelhamed, Zakia A., Natarajan, Subaashini, Herridge, Warren, van Reeuwijk, Jeroen, Horn, Nicola, Boldt, Karsten, Parry, David A., Letteboer, Stef J. F., Roosing, Susanne, Adams, Matthew, Bell, Sandra M., Bond, Jacquelyn, Higgins, Julie, Morrison, Ewan E., Tomlinson, Darren C., Slaats, Gisela G., van Dam, Teunis J. P., Huang, Lijia, Kessler, Kristin, Giessl, Andreas, Logan, Clare V., Boyle, Evan A., Shendure, Jay, Anazi, Shamsa, Aldahmesh, Mohammed, Al Hazzaa, Selwa, Hegele, Robert A., Ober, Carole, Frosk, Patrick, Mhanni, Aizeddin A., Chodirker, Bernard N., Chudley, Albert E., Lamont, Ryan, Bernier, Francois P., Beaulieu, Chandree L., Gordon, Paul, Pon, Richard T., Donahue, Clem, Barkovich, A. James, Wolf, Louis, Toomes, Carmel, Thiel, Christian T., Boycott, Kym M., McKibbin, Martin, Inglehearn, Chris F., Stewart, Fiona, Omran, Heymut, Huynen, Martijn A., Sergouniotis, Panagiotis I., Alkuraya, Fowzan S., Parboosingh, Jillian S., Innes, A. Micheil, Willoughby, Colin E., Giles, Rachel H., Webster, Andrew R., Ueffing, Marius, Blacque, Oliver, Gleeson, Joseph G., Wolfrum, Uwe, Beales, Philip L., Gibson, Toby, Doherty, Dan, Mitchison, Hannah M., Roepman, Ronald, Johnson, Colin A.
Published in Nature cell biology (01.08.2015)

Get full text
Journal Article

Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide

by Walpole, Sebastian, Pritchard, Antonia L, Cebulla, Colleen M, Pilarski, Robert, Stautberg, Meredith, Davidorf, Frederick H, de la Fouchardière, Arnaud, Cabaret, Odile, Golmard, Lisa, Stoppa-Lyonnet, Dominique, Garfield, Erin, Njauw, Ching-Ni, Cheung, Mitchell, Turunen, Joni A, Repo, Pauliina, Järvinen, Reetta-Stiina, van Doorn, Remco, Jager, Martine J, Luyten, Gregorius P M, Marinkovic, Marina, Chau, Cindy, Potrony, Miriam, Höiom, Veronica, Helgadottir, Hildur, Pastorino, Lorenza, Bruno, William, Andreotti, Virginia, Dalmasso, Bruna, Ciccarese, Giulia, Queirolo, Paola, Mastracci, Luca, Wadt, Karin, Kiilgaard, Jens Folke, Speicher, Michael R, van Poppelen, Natasha, Kilic, Emine, Al-Jamal, Rana'a T, Dianzani, Irma, Betti, Marta, Bergmann, Carsten, Santagata, Sandro, Dahiya, Sonika, Taibjee, Saleem, Burke, Jo, Poplawski, Nicola, O'Shea, Sally J, Newton-Bishop, Julia, Adlard, Julian, Adams, David J, Lane, Anne-Marie, Kim, Ivana, Klebe, Sonja, Racher, Hilary, Harbour, J William, Nickerson, Michael L, Murali, Rajmohan, Palmer, Jane M, Howlie, Madeleine, Symmons, Judith, Hamilton, Hayley, Warrier, Sunil, Glasson, William, Johansson, Peter, Robles-Espinoza, Carla Daniela, Ossio, Raul, de Klein, Annelies, Puig, Susana, Ghiorzo, Paola, Nielsen, Maartje, Kivelä, Tero T, Tsao, Hensin, Testa, Joseph R, Gerami, Pedram, Stern, Marc-Henri, Paillerets, Brigitte Bressac-de, Abdel-Rahman, Mohamed H, Hayward, Nicholas K
Published in JNCI : Journal of the National Cancer Institute (01.12.2018)

Get full text
Journal Article

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

by Snijders Blok, Lot, Madsen, Erik, Juusola, Jane, Gilissen, Christian, Baralle, Diana, Reijnders, Margot R.F., Venselaar, Hanka, Helsmoortel, Céline, Cho, Megan T., Hoischen, Alexander, Vissers, Lisenka E.L.M., Koemans, Tom S., Wissink-Lindhout, Willemijn, Eichler, Evan E., Romano, Corrado, Van Esch, Hilde, Stumpel, Connie, Vreeburg, Maaike, Smeets, Eric, Oberndorff, Karin, van Bon, Bregje W.M., Shaw, Marie, Gecz, Jozef, Haan, Eric, Bienek, Melanie, Jensen, Corinna, Loeys, Bart L., Van Dijck, Anke, Innes, A. Micheil, Racher, Hilary, Vermeer, Sascha, Di Donato, Nataliya, Rump, Andreas, Tatton-Brown, Katrina, Parker, Michael J., Henderson, Alex, Lynch, Sally A., Fryer, Alan, Ross, Alison, Vasudevan, Pradeep, Kini, Usha, Newbury-Ecob, Ruth, Chandler, Kate, Male, Alison, Dijkstra, Sybe, Schieving, Jolanda, Giltay, Jacques, van Gassen, Koen L.I., Schuurs-Hoeijmakers, Janneke, Tan, Perciliz L., Pediaditakis, Igor, Haas, Stefan A., Retterer, Kyle, Reed, Patrick, Monaghan, Kristin G., Haverfield, Eden, Natowicz, Marvin, Myers, Angela, Kruer, Michael C., Stein, Quinn, Strauss, Kevin A., Brigatti, Karlla W., Keating, Katherine, Burton, Barbara K., Kim, Katherine H., Charrow, Joel, Norman, Jennifer, Foster-Barber, Audrey, Kline, Antonie D., Kimball, Amy, Zackai, Elaine, Harr, Margaret, Fox, Joyce, McLaughlin, Julie, Lindstrom, Kristin, Haude, Katrina M., van Roozendaal, Kees, Brunner, Han, Chung, Wendy K., Kooy, R. Frank, Pfundt, Rolph, Kalscheuer, Vera, Mehta, Sarju G., Katsanis, Nicholas, Kleefstra, Tjitske
Published in American journal of human genetics (06.08.2015)

Get full text
Journal Article

A second update on mapping the human genetic architecture of COVID-19

by Jansen, Philip, Nakanishi, Tomoko, Priest, James, Turebayeva, Gulsimzhan, Bouab, Meriem, Bourque, Guillaume, Tse, Sze Man, Faucon, Annika B, Jensen, Björn-Erik Ole, Bals, Robert, Noor, Abdul, Liontos, Angelos, Azuure, Clinton, Blanco-Grau, Albert, Casalone, Elisabetta, Bellelli, Giuseppe, Kurihara, Hayato, Farré, Xavier, Hunkapiller, Julie, Kim, Jin Yong, Lee, Ji Yeon, Jung, Keum Ji, Bretherick, Andrew D, Ostermann, Marlies, Ryan, Lucy, Briton, Kate, Cutler, Sean, Springle, Philippa, Goodwin, Emma, Tibke, Clare, Farley, Sean, Bradley-Potts, Joanne, Whileman, Amanda, Kaye, Callum, Preston, Stephen, Cupitt, Jason, Jakkula, Srinivas, Lamb, Thomas, Hudson, Anne, Clark, Richard, Hudig, Lisa, Roberts, Abigail, Slevin, Kathryn, Thomas, Vicky, Chisholm, Catherine, Scanlon, Jeremy, Jones, Helen, Riches, Joanne, Anderson, Susan, Davies, Rhys, Tebbutt, Julie, Conyngham, Jo-Anna, Hobden, Gillian, Collier, Dawn, Durga, Latha, Wilson, Alison, Finnell, Jez, Serrano-Ruiz, Alfredo, Turner, Patricia, Turney, Sharon, Tutt, Gabriella, Varghese, Mathew, Stuart, Carmel, Wood, Stephen, Cother, Naiara, Brady, Ailbhe, Arden, Tracie, Capps, Nigel, Lennon, Liz, Joseph, Sibet, Jennings, Claire, Revill, Adam, Fletcher, Jo, Sutherland, Isobel, Kaye, Duncan, Whitbread, Jennifer, Hector, Gemma, Goddard, Peter, Lauder, Christen, Oosthuyzen, Wilna, Szoor-Mcelhinney, Helen, Upadhyay, Kamlesh J, Joshi, Chaitanya G, Kabata, Hiroki, Mikami, Yohei, Sonobe, Kazunari, Tateno, Hiroki, Yoshihara, Tomoyuki, Kuwahara, Naota, Sugiura, Hisatoshi, Ishihara, Sayoko, Ismail, Said I, Feng, Yen-Chen Anne, Castano, Luis, Ceballos, Francisco C, Aguado, Jose María, Carbonell, Cristina, Werge, Thomas, Wilson, Daniel J, Serra-Llovich, Alex
Published in Nature (London) (07.09.2023)

Get full text
Journal Article Web Resource

Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository

by Mighton, Chloe, Smith, Amanda C, Mayers, Justin, Tomaszewski, Robert, Taylor, Sherryl, Hume, Stacey, Agatep, Ron, Spriggs, Elizabeth, Feilotter, Harriet E, Semenuk, Laura, Wong, Henry, Silver, Talia, Charames, George S, Di Gioacchino, Vanessa, Watkins, Nicholas, Foulkes, William D, Clavier, Marcos, Hamel, Nancy, Chong, George, Lamont, Ryan E, Parboosingh, Jillian, Young, Sean S, Akbari, Mohammad Reza, Speevak, Marsha D, Lebo, Matthew S, Agatep, Ron, Ainsworth, Peter, Akbari, Mohammad R., Aronson, Melyssa, Basran, Raveen, Blumenthal, Andrea, Bombard, Yvonne, Buckley, Kathleen, Campbell, Jodi, Care, Melanie, Carson, Nancy, Chang, Martin C., Carter, Ronald, Charames, George, Chitayat, David, Chong, George, Chouinard, Edmond, Craddock, Kenneth J., Docking, Rod, Eisen, Andrea, Faghfoury, Hanna, Farrell, Sandra, Feilotter, Harriet, Fernandez, Bridget, Fiume, Marc, Friedman, Jan, Foulkes, William, Goodhand, Peter, Hegele, Robert, Holter, Spring, Horsburgh, Sheri, Hughes, Lauren, Hume, Stacey, Jarinova, Olga, Junker, Anne, Karsan, Aly, Khalouei, Sam, Kim, Raymond H., Knoppers, Bartha, Lamont, Ryan, Lebo, Matthew, Lerner-Ellis, Jordan, Maire, Georges, Mitchell, Grant, Morel, Chantal, Nelson, Tanya, Noor, Abdul, O’Rielly, Darren, Ouellette, Francis, Parboosingh, Jillian, Rehm, Heidi, Riddell, Christie, Riviere, Jean-Baptiste, Rosenblatt, David S., Rouleau, Guy, Ruchon, Andrea, Sabatini, Peter, Sadikovic, Bekim, Semotiuk, Kara, Scherer, Stephen W., Shuman, Cheryl, Silver, Josh, Solomon-Izsak, Lesley, Speevak, Marsha, Taylor, Sherryl, Terespolsky, Deborah, Tomaszewski, Robert, Wong, Nora, Wang, Marina, Watkins, Nicholas, Waye, John S., White, Shana, Woods, Michael O., Young, Sean, Zakoor, Kathleen-Rose
Published in Journal of medical genetics (01.06.2022)

Get full text
Journal Article