An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
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)
Published in Nature cell biology (01.08.2015)
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Reduction of Derlin activity suppresses Notch-dependent tumours in the C. elegans germ line
Singh, Ramya, Smit, Ryan B, Wang, Xin, Wang, Chris, Racher, Hilary, Hansen, Dave
Published in PLoS genetics (23.09.2021)
Published in PLoS genetics (23.09.2021)
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Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome
Bernier, Francois P., Caluseriu, Oana, Ng, Sarah, Schwartzentruber, Jeremy, Buckingham, Kati J., Innes, A. Micheil, Jabs, Ethylin Wang, Innis, Jeffrey W., Schuette, Jane L., Gorski, Jerome L., Byers, Peter H., Andelfinger, Gregor, Siu, Victoria, Lauzon, Julie, Fernandez, Bridget A., McMillin, Margaret, Scott, Richard H., Racher, Hilary, Majewski, Jacek, Nickerson, Deborah A., Shendure, Jay, Bamshad, Michael J., Parboosingh, Jillian S.
Published in American journal of human genetics (04.05.2012)
Published in American journal of human genetics (04.05.2012)
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Detection of SARS-CoV-2 from Saliva as Compared to Nasopharyngeal Swabs in Outpatients
Kandel, Christopher, Zheng, Jennifer, McCready, Janine, Serbanescu, Mihaela Anca, Racher, Hilary, Desaulnier, Melissa, Powis, Jeff E, Vojdani, Kyle, Finlay, Laura, Sheldrake, Elena, Vermeiren, Christie, Katz, Kevin, McGeer, Allison, Kozak, Robert, Goneau, Lee W
Published in Viruses (17.11.2020)
Published in Viruses (17.11.2020)
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P101: Confirmation of MYCN amplification as the cause for retinoblastoma eliminates risks for RB related cancers in proband and family members
Jessen, Jaime, Racher, Hilary, Wang, Yiming, Venier, Rosemarie, Paton, Katherine, Ramasubramanian, Aparna
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms
Jansen, Sandra, van der Werf, Ilse M, Innes, A Micheil, Afenjar, Alexandra, Agrawal, Pankaj B, Anderson, Ilse J, Atwal, Paldeep S, van Binsbergen, Ellen, van den Boogaard, Marie-José, Castiglia, Lucia, Coban-Akdemir, Zeynep H, van Dijck, Anke, Doummar, Diane, van Eerde, Albertien M, van Essen, Anthonie J, van Gassen, Koen L, Guillen Sacoto, Maria J, van Haelst, Mieke M, Iossifov, Ivan, Jackson, Jessica L, Judd, Elizabeth, Kaiwar, Charu, Keren, Boris, Klee, Eric W, Klein Wassink-Ruiter, Jolien S, Meuwissen, Marije E, Monaghan, Kristin G, de Munnik, Sonja A, Nava, Caroline, Ockeloen, Charlotte W, Pettinato, Rosa, Racher, Hilary, Rinne, Tuula, Romano, Corrado, Sanders, Victoria R, Schnur, Rhonda E, Smeets, Eric J, Stegmann, Alexander P A, Stray-Pedersen, Asbjørg, Sweetser, David A, Terhal, Paulien A, Tveten, Kristian, VanNoy, Grace E, de Vries, Petra F, Waxler, Jessica L, Willing, Marcia, Pfundt, Rolph, Veltman, Joris A, Kooy, R Frank, Vissers, Lisenka E L M, de Vries, Bert B A
Published in European journal of human genetics : EJHG (01.05.2019)
Published in European journal of human genetics : EJHG (01.05.2019)
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Metachronous, non‐pineal, trilateral retinoblastoma in a patient with a seemingly reduced‐expressivity RB1 germline deletion
Eiset, Saga Elise, Funding, Mikkel, Racher, Hilary, Heegaard, Steffen, Gallie, Brenda, Urbak, Steen Fiil, Gregersen, Pernille A.
Published in Clinical case reports (01.03.2022)
Published in Clinical case reports (01.03.2022)
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De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: Two new cases and a clinical review
Au, P.Y. Billie, Racher, Hilary E., Graham Jr, John M., Kramer, Nancy, Lowry, R. Brian, Parboosingh, Jillian S., Innes, A. Micheil
Published in American journal of medical genetics. Part A (01.03.2014)
Published in American journal of medical genetics. Part A (01.03.2014)
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Aqueous humor as a surrogate biomarker for retinoblastoma tumor tissue
Raval, Vishal, Racher, Hilary, Wrenn, Jacquelyn, Singh, Arun D.
Published in Journal of AAPOS (01.06.2022)
Published in Journal of AAPOS (01.06.2022)
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Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide
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)
Published in JNCI : Journal of the National Cancer Institute (01.12.2018)
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Detection of severe acute respiratory coronavirus virus 2 (SARS-CoV-2) in outpatients: A multicenter comparison of self-collected saline gargle, oral swab, and combined oral-anterior nasal swab to a provider collected nasopharyngeal swab
Kandel, Christopher E, Young, Matthew, Serbanescu, Mihaela Anca, Powis, Jeff E, Bulir, David, Callahan, James, Katz, Kevin, McCready, Janine, Racher, Hilary, Sheldrake, Elena, Quon, Dorothy, Vojdani, Omid Kyle, McGeer, Allison, Goneau, Lee W, Vermeiren, Christie
Published in Infection Control & Hospital Epidemiology (01.11.2021)
Published in Infection Control & Hospital Epidemiology (01.11.2021)
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Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling
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)
Published in American journal of human genetics (06.08.2015)
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A second update on mapping the human genetic architecture of COVID-19
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)
Published in Nature (London) (07.09.2023)
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Retinoblastoma caused by an RB1 variant with unusually low penetrance in a Danish family
Gregersen, Pernille A., Jensen, Peter S., Christensen, Rikke, Lohmann, Dietmar, Racher, Hilary, Gallie, Brenda, Urbak, Steen F.
Published in European journal of medical genetics (01.08.2024)
Published in European journal of medical genetics (01.08.2024)
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Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository
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)
Published in Journal of medical genetics (01.06.2022)
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