Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy von Hildebrand, Michael S., Griffin, Nicole G., Damiano, John A., Cops, Elisa J., Burgess, Rosemary, Ozturk, Ezgi, Jones, Nigel C., Leventer, Richard J., Freeman, Jeremy L., Harvey, A. Simon, Sadleir, Lynette G., Scheffer, Ingrid E., Major, Heather, Darbro, Benjamin W., Allen, Andrew S., Goldstein, David B., Kerrigan, John F., Berkovic, Samuel F., Heinzen, Erin L.

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The tissue-type plasminogen activator― plasminogen activator inhibitor 1 complex promotes neurovascular injury in brain trauma: evidence from mice and humans von SASHINDRANATH, Maithili, SALES, Eunice, ROSENFELD, Jeffrey V, MADANI, Rime, VASSALLI, Jean-Dominique, SU, Enming J, LAWRENCE, Daniel A, MEDCALF, Robert L, DAGLAS, Maria, FREEMAN, Roxann, SAMSON, Andre L, COPS, Elisa J, BECKHAM, Simone, GALLE, Adam, MCLEAN, Catriona, MORGANTI-KOSSMANN, Cristina

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Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres von Fortuno, Cristina, Cops, Elisa J, Davidson, Aimee L, Hadler, Johanna, Innella, Giovanni, McKenzie, Maddison E, Parsons, Michael, Campbell, Ainsley M, Dubowsky, Andrew, Fargas, Verna, Field, Michael J, Mar Fan, Helen G, Nichols, Cassandra B, Poplawski, Nicola K, Warwick, Linda, Williams, Rachel, Beshay, Victoria, Edwards, Caitlin, Johns, Andrea, McPhillips, Mary, Kumar, Vanessa Siva, Scott, Rodney, Williams, Mark, Scott, Hamish, James, Paul A, Spurdle, Amanda B

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Nucleocytoplasmic Coagulation: An Injury-Induced Aggregation Event that Disulfide Crosslinks Proteins and Facilitates Their Removal by Plasmin von Samson, Andre L., Knaupp, Anja S., Sashindranath, Maithili, Borg, Rachael J., Au, Amanda E.-L., Cops, Elisa J., Saunders, Helen M., Cody, Stephen H., McLean, Catriona A., Nowell, Cameron J., Hughes, Victoria A., Bottomley, Stephen P., Medcalf, Robert L.

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Exploring the impact of the reclassification of a hereditary cancer syndrome gene variant: emerging themes from a qualitative study von Wedd, Laura, Gleeson, Margaret, Meiser, Bettina, O’Shea, Rosie, Barlow-Stewart, Kristine, Spurdle, Amanda B., James, Paul, Fleming, Jane, Nichols, Cassandra, Austin, Rachel, Cops, Elisa, Monnik, Melissa, Do, Judy, Kaur, Rajneesh

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Stakeholder attitudes towards establishing a national genomics registry of inherited cancer predisposition: a qualitative study von Meiser, Bettina, Monnik, Melissa, Austin, Rachel, Nichols, Cassandra, Cops, Elisa, Salmon, Lucinda, Spurdle, Amanda B., Macrae, Finlay, Taylor, Natalie, Pachter, Nicholas, James, Paul, Kaur, Rajneesh

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Antiproliferative actions of the synthetic androgen, mibolerone, in breast cancer cells are mediated by both androgen and progesterone receptors von Cops, Elisa J., Bianco-Miotto, Tina, Moore, Nicole L., Clarke, Christine L., Birrell, Stephen N., Butler, Lisa M., Tilley, Wayne D.

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Tissue-type plasminogen activator is an extracellular mediator of Purkinje cell damage and altered gait von Cops, Elisa J., Sashindranath, Maithili, Daglas, Maria, Short, Kieran M., da Fonseca Pereira, Candida, Pang, Terence Y., Lijnen, Roger H., Smyth, Ian M., Hannan, Anthony J., Samson, Andre L., Medcalf, Robert L.

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The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study von Davidson, Aimee L, Dressel, Uwe, Norris, Sarah, Canson, Daffodil M, Glubb, Dylan M, Fortuno, Cristina, Hollway, Georgina E, Parsons, Michael T, Vidgen, Miranda E, Holmes, Oliver, Koufariotis, Lambros T, Lakis, Vanessa, Leonard, Conrad, Wood, Scott, Xu, Qinying, McCart Reed, Amy E, Pickett, Hilda A, Al-Shinnag, Mohammad K, Austin, Rachel L, Burke, Jo, Cops, Elisa J, Nichols, Cassandra B, Goodwin, Annabel, Harris, Marion T, Higgins, Megan J, Ip, Emilia L, Kiraly-Borri, Catherine, Lau, Chiyan, Mansour, Julia L, Millward, Michael W, Monnik, Melissa J, Pachter, Nicholas S, Ragunathan, Abiramy, Susman, Rachel D, Townshend, Sharron L, Trainer, Alison H, Troth, Simon L, Tucker, Katherine M, Wallis, Mathew J, Walsh, Maie, Williams, Rachel A, Winship, Ingrid M, Newell, Felicity, Tudini, Emma, Pearson, John V, Poplawski, Nicola K, Mar Fan, Helen G, James, Paul A, Spurdle, Amanda B, Waddell, Nicola, Ward, Robyn L

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Decreased androgen receptor levels and receptor function in breast cancer contribute to the failure of response to medroxyprogesterone acetate von BUCHANAN, Grant, BIRRELL, Stephen N, BENTEL, Jacqueline M, RICCIARDELLI, Carmella, HORSFALL, David J, BUTLER, Lisa M, TILLEY, Wayne D, PETERS, Amelia A, BIANCO-MIOTTO, Tina, RAMSAY, Katrina, COPS, Elisa J, MIAO YANG, HARRIS, Jonathan M, SIMILA, Henry A, MOORE, Nicole L

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Impact of national guidelines on use of BRCA1/2 germline testing, risk management advice given to women with pathogenic BRCA1/2 variants and uptake of advice von Meiser, Bettina, Kaur, Rajneesh, Morrow, April, Peate, Michelle, Wong, W. K. Tim, McPike, Emily, Cops, Elisa, Nichols, Cassandra, Austin, Rachel, Fine, Miriam, Thrupp, Letitia, Ward, Robyn, Macrae, Finlay, Hiller, Janet E., Trainer, Alison H., Mitchell, Gillian

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Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study von Dowty, James G., Lee, Grant, Templeton, Allyson S., Alvarez, Karin, Ankathil, Ravindran, Austin, Rachel, Barca-Tierno, Verónica, Berthet, Pascaline, Boisjoli, Talya, Briollais, Laurent, Brunet, Joan, Bucksch, Karolin, Buettner, Reinhard, Burn, John, Caldés, Trinidad, Casey, Graham, Chew, Min H., Choi, Yun-hee, Church, James, Clendenning, Mark, Colas, Chrystelle, Coupier, Isabelle, de la Chapelle, Albert, Dębniak, Tadeusz, Della Valle, Adriana, Dominguez-Valentin, Mev, Engel, Christoph, Esperon, Patricia, Foulkes, William, Frebourg, Thierry, Gallinger, Steven, Garre, Pilar, Genuardi, Maurizio, Giraud, Sophie, Goodwin, Annabel, Green, Kate, Guindalini, Rodrigo S.C., Half, Elizabeth E., Hampel, Heather, Ho, Judy W.C., Hoogerbrugge, Nicoline, Hüneburg, Robert, Huntley, Vanessa, Jensen, Uffe B, Juhari, Wan K.W., Kloor, Matthias, Kupfer, Sonia S., Lagerstedt-Robinson, Kristina, Lalloo, Fiona, Lautrup, Charlotte K., Leggett, Barbara A., Lejeune, Sophie, Lindor, Noralane, Loeffler, Markus, Lucassen, Anneke M, Lynch, Patrick M., Møller, Pål, Navarro, Matilde, Neffa, Florencia, Neklason, Deborah, Nixon, Dawn M., Palmero, Edenir I., Pande, Mala, Parry, Susan, Pineda, Marta, Qiu, Jay, Ramesar, Raj, Rasmussen, Lene J., Redler, Silke, Ricciardiello, Luigi, Schulmann, Karsten, Schuster, Helène, Senter, Leigha, Seppälä, Toni T, Shtoyerman, Rakefet, Sijmons, Rolf H., Soto, Jose Luis, Spigelman, Allan, Steinke-Lange, Verena, Stoffel, Elena M., Strassburg, Christian P., Sunde, Lone, Therkildsen, Christina, Thibodeau, Steve, Tucker, Katherine M., Tunca, Berrin, Uhrhammer, Nancy, Vaccaro, Carlos, van Duijnhoven, Fränzel J.B., van Wanzeele, Meghan J., Vasen, Hans F.A., von Knebel Doeberitz, Magnus, von Salomé, Jenny, Ward, Robyn L., Wise, Paul E., Yamaguchi, Tatsuro, Zahary, Mohd N., Hopper, John L., Haile, Robert W., Jenkins, Mark A.

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Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification von Parsons, Michael T., Tudini, Emma, Li, Hongyan, Hahnen, Eric, Wappenschmidt, Barbara, Feliubadaló, Lidia, Aalfs, Cora M., Agata, Simona, Aittomäki, Kristiina, Reis, R. M.

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Long-term clinical and psychosocial outcomes of surveillance in Li Fraumeni syndrome von Zaheed, Milita, Napier, Christine E, Cops, Elisa J, Ferris, Nick, Moodie, Kate, Milner, Brad, Moses, Daniel, Poplawski, Nicola, Dow, Eryn Gaye, Harris, Marion, Tucker, Kathy, Trainer, Alison, James, Paul, Thomas, David Morgan, Ballinger, Mandy L.

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Phenotypic analysis of 303 multiplex families with common epilepsies

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Tissue-type plasminogen activator is an extracellular mediator of Purkinje cell damage and altered gait von Cops, Elisa J, Sashindranath, Maithili, Daglas, Maria, Short, Kieran M, Pereira, Candida da Fonseca, Pang, Terence Y, Lijnen, Roger, Smyth, Ian M, Hannan, Anthony J, Samson, Andre L, Medcalf, Robert L

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Additional file 1 of The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study von Davidson, Aimee L, Dressel, Uwe, Norris, Sarah, Canson, Daffodil M, Glubb, Dylan M, Fortuno, Cristina, Hollway, Georgina E, Parsons, Michael T, Vidgen, Miranda E, Holmes, Oliver, Koufariotis, Lambros T, Lakis, Vanessa, Leonard, Conrad, Wood, Scott, Xu, Qinying, McCart Reed, Amy E, Pickett, Hilda A, Al-Shinnag, Mohammad K, Austin, Rachel L, Burke, Jo, Cops, Elisa J, Nichols, Cassandra B, Goodwin, Annabel, Harris, Marion T, Higgins, Megan J, Ip, Emilia L, Kiraly-Borri, Catherine, Lau, Chiyan, Mansour, Julia L, Millward, Michael W, Monnik, Melissa J, Pachter, Nicholas S, Ragunathan, Abiramy, Susman, Rachel D, Townshend, Sharron L, Trainer, Alison H, Troth, Simon L, Tucker, Katherine M, Wallis, Mathew J, Walsh, Maie, Williams, Rachel A, Winship, Ingrid M, Newell, Felicity, Tudini, Emma, Pearson, John V, Poplawski, Nicola K, Mar Fan, Helen G, James, Paul A, Spurdle, Amanda B, Waddell, Nicola, Ward, Robyn L

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Abstract 5367: Medroxyprogesterone acetate impedes 5α-dihydrotesterone induced androgen receptor signaling in normal and malignant human breast epithelial cells von Ochnik, Aleksandra M., Jankovic-Karasoulos, Tanja, Cops, Elisa J., Birrell, Stephen N., Butler, Lisa M., Jindall, Shalini, Bianco-Miotto, Tina, Thomas, Mervyn, Tilley, Wayne D., Hickey, Theresa E.

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Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification von Parsons, Michael T, Tudini, Emma, Li, Hongyan, Wappenschmidt, Barbara, Aittomäki, Kristiina, Alonso Cerezo, María Concepción, Hauke, Jan, Arnold, Norbert, Seggewiß, Jochen, Caldés, Trinidad, Rump, Andreas, Horvath, Judit, Poplawski, Nicola K, Houdayer, Claude, Brunet, Joan, Steinemann, Doris, Barbieri, Elena, James, Paul A, Torres Esquius, Sara, Janssen, Linda A.M, Kruse, Torben A, Kölbl, Alexandra, Ledig, Susanne, Cops, Elisa J, Kaulfuß, Silke, Porfirio, Berardino, Auber, Bernd, Carrasco, Estela, Nathanson, Katherine L, Tucker, Katherine M, Bucksch, Karolin, Navarro, Matilde, Faust, Ulrike, Nevanlinna, Heli, Cortesi, Laura, Wiesmüller, Lisa, Pachter, Nicholas, Galvao, Henrique C.R, Couch, Fergus J, Palmero, Edenir I, Cagnoli, Giulia, Asperen, Christi J, Darder, Esther, Reis, Rui M, Wieland, Kerstin, Blümcke, Britta, Zachariae, Silke, Stiller, Mathias, Feroce, Irene, Keupp, Katharina, Hoya, Miguel, Lucci Cordisco, Emanuela, Sullivan, Kelly J, Susman, Rachel, Zampiga, Valentina, Gómez, Carolina, Tavtigian, Sean V, Lewis, Alexandra L, Montagna, Marco, Debatin, Irmgard, Thomassen, Mads, Gutiérrez Enríquez, Sara, Meindl, Alfons, Fine, Miriam, Blanco, Ana, Caligo, Maria A, Gensini, Francesca, Loeffler, Markus, Peissel, Bernard, Lázaro García, Conxi, Nicolo, Arcangela, Engel, Christoph, Schmutzler, Rita K, Goldgar, David E, Austin, Rachel, Borg, Åke, Salinas, Monica, Gehrig, Andrea, Grill, Sabine, Moserle, Lidia, Hansen, Thomas V.O, Rhiem, Kerstin, Lattimore, Vanessa L, Del Valle, Jesús, Lalloo, Fiona, Toland, Amanda E, Diez, Orland, Monteiro, Alvaro N, Maass, Nicolai, Dutrannoy, Véronique, Eccles, Diana, Ehrencrona, Hans, Schmidt, Gunnar, Walker, Logan C, Foulkes, William D, Gerdes, Anne Marie, Ritter, Julia, Tornero, Eva, Schoenwiese, Ulrike, Vega, Ana

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Additional file 1 of The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study von Davidson, Aimee L, Dressel, Uwe, Norris, Sarah, Canson, Daffodil M, Glubb, Dylan M, Fortuno, Cristina, Hollway, Georgina E, Parsons, Michael T, Vidgen, Miranda E, Holmes, Oliver, Koufariotis, Lambros T, Lakis, Vanessa, Leonard, Conrad, Wood, Scott, Xu, Qinying, McCart Reed, Amy E, Pickett, Hilda A, Al-Shinnag, Mohammad K, Austin, Rachel L, Burke, Jo, Cops, Elisa J, Nichols, Cassandra B, Goodwin, Annabel, Harris, Marion T, Higgins, Megan J, Ip, Emilia L, Kiraly-Borri, Catherine, Lau, Chiyan, Mansour, Julia L, Millward, Michael W, Monnik, Melissa J, Pachter, Nicholas S, Ragunathan, Abiramy, Susman, Rachel D, Townshend, Sharron L, Trainer, Alison H, Troth, Simon L, Tucker, Katherine M, Wallis, Mathew J, Walsh, Maie, Williams, Rachel A, Winship, Ingrid M, Newell, Felicity, Tudini, Emma, Pearson, John V, Poplawski, Nicola K, Mar Fan, Helen G, James, Paul A, Spurdle, Amanda B, Waddell, Nicola, Ward, Robyn L

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