Breast cancer polygenic risk scores in the clinical cancer genetic counseling setting: Current practices and impact on patient management
McGuinness, Molly, Fassi, Emily, Wang, Catharine, Hacking, Claire, Ellis, Victoria
Published in Journal of genetic counseling (01.04.2021)
Published in Journal of genetic counseling (01.04.2021)
Get full text
Journal Article
The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results
Baldridge, Dustin, Heeley, Jennifer, Vineyard, Marisa, Manwaring, Linda, Toler, Tomi L., Fassi, Emily, Fiala, Elise, Brown, Sarah, Goss, Charles W., Willing, Marcia, Grange, Dorothy K., Kozel, Beth A., Shinawi, Marwan
Published in Genetics in medicine (01.09.2017)
Published in Genetics in medicine (01.09.2017)
Get full text
Journal Article
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons
Bell, Scott, Rousseau, Justine, Peng, Huashan, Aouabed, Zahia, Priam, Pierre, Theroux, Jean-Francois, Jefri, Malvin, Tanti, Arnaud, Wu, Hanrong, Kolobova, Ilaria, Silviera, Heika, Manzano-Vargas, Karla, Ehresmann, Sophie, Hamdan, Fadi F., Hettige, Nuwan, Zhang, Xin, Antonyan, Lilit, Nassif, Christina, Ghaloul-Gonzalez, Lina, Sebastian, Jessica, Vockley, Jerry, Begtrup, Amber G., Wentzensen, Ingrid M., Crunk, Amy, Nicholls, Robert D., Herman, Kristin C., Deignan, Joshua L., Al-Hertani, Walla, Efthymiou, Stephanie, Salpietro, Vincenzo, Miyake, Noriko, Makita, Yoshio, Matsumoto, Naomichi, Østern, Rune, Houge, Gunnar, Hafström, Maria, Fassi, Emily, Houlden, Henry, Klein Wassink-Ruiter, Jolien S., Nelson, Dominic, Goldstein, Amy, Dabir, Tabib, van Gils, Julien, Bourgeron, Thomas, Delorme, Richard, Cooper, Gregory M., Martinez, Jose E., Finnila, Candice R., Carmant, Lionel, Lortie, Anne, Oegema, Renske, van Gassen, Koen, Mehta, Sarju G., Huhle, Dagmar, Abou Jamra, Rami, Martin, Sonja, Brunner, Han G., Lindhout, Dick, Au, Margaret, Graham, John M., Coubes, Christine, Turecki, Gustavo, Gravel, Simon, Mechawar, Naguib, Rossignol, Elsa, Michaud, Jacques L., Lessard, Julie, Ernst, Carl, Campeau, Philippe M.
Published in American journal of human genetics (02.05.2019)
Published in American journal of human genetics (02.05.2019)
Get full text
Journal Article
De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene
Chemin, Jean, Siquier-Pernet, Karine, Nicouleau, Michaël, Barcia, Giulia, Ahmad, Ali, Medina-Cano, Daniel, Hanein, Sylvain, Altin, Nami, Hubert, Laurence, Bole-Feysot, Christine, Fourage, Cécile, Nitschké, Patrick, Thevenon, Julien, Rio, Marlène, Blanc, Pierre, vidal, Céline, Bahi-Buisson, Nadia, Desguerre, Isabelle, Munnich, Arnold, Lyonnet, Stanislas, Boddaert, Nathalie, Fassi, Emily, Shinawi, Marwan, Zimmerman, Holly, Amiel, Jeanne, Faivre, Laurence, Colleaux, Laurence, Lory, Philippe, Cantagrel, Vincent
Published in Brain (London, England : 1878) (01.07.2018)
Published in Brain (London, England : 1878) (01.07.2018)
Get full text
Journal Article
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum
Konrad, Enrico D. H., Nardini, Niels, Caliebe, Almuth, Nagel, Inga, Young, Dana, Horvath, Gabriella, Santoro, Stephanie L., Shuss, Christine, Ziegler, Alban, Bonneau, Dominique, Kempers, Marlies, Pfundt, Rolph, Legius, Eric, Bouman, Arjan, Stuurman, Kyra E., Õunap, Katrin, Pajusalu, Sander, Wojcik, Monica H., Vasileiou, Georgia, Le Guyader, Gwenaël, Schnelle, Hege M., Berland, Siren, Zonneveld-Huijssoon, Evelien, Kersten, Simone, Gupta, Aditi, Blackburn, Patrick R., Ellingson, Marissa S., Ferber, Matthew J., Dhamija, Radhika, Klee, Eric W., McEntagart, Meriel, Lichtenbelt, Klaske D., Kenney, Amy, Vergano, Samantha A., Abou Jamra, Rami, Platzer, Konrad, Ella Pierpont, Mary, Khattar, Divya, Hopkin, Robert J., Martin, Richard J., Jongmans, Marjolijn C. J., Chang, Vivian Y., Martinez-Agosto, Julian A., Kuismin, Outi, Kurki, Mitja I., Pietiläinen, Olli, Palotie, Aarno, Maarup, Timothy J., Johnson, Diana S., Venborg Pedersen, Katja, Laulund, Lone W., Lynch, Sally A., Blyth, Moira, Prescott, Katrina, Canham, Natalie, Ibitoye, Rita, Brilstra, Eva H., Shinawi, Marwan, Fassi, Emily, Sticht, Heinrich, Gregor, Anne, Van Esch, Hilde, Zweier, Christiane
Published in Genetics in medicine (01.12.2019)
Published in Genetics in medicine (01.12.2019)
Get full text
Journal Article
Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity
Cheng, Hanyin, Capponi, Simona, Wakeling, Emma, Marchi, Elaine, Li, Quan, Zhao, Mengge, Weng, Chunhua, Stefan, Piatek G., Ahlfors, Helena, Kleyner, Robert, Rope, Alan, Lumaka, Aimé, Lukusa, Prosper, Devriendt, Koenraad, Vermeesch, Joris, Posey, Jennifer E., Palmer, Elizabeth E., Murray, Lucinda, Leon, Eyby, Diaz, Jullianne, Worgan, Lisa, Mallawaarachchi, Amali, Vogt, Julie, Munnik, Sonja A., Dreyer, Lauren, Baynam, Gareth, Ewans, Lisa, Stark, Zornitza, Lunke, Sebastian, Gonçalves, Ana R., Soares, Gabriela, Oliveira, Jorge, Fassi, Emily, Willing, Marcia, Waugh, Jeff L., Faivre, Laurence, Riviere, Jean‐Baptiste, Moutton, Sebastien, Mohammed, Shehla, Payne, Katelyn, Walsh, Laurence, Begtrup, Amber, Guillen Sacoto, Maria J., Douglas, Ganka, Alexander, Nora, Buckley, Michael F., Mark, Paul R., Adès, Lesley C., Sandaradura, Sarah A., Lupski, James R., Roscioli, Tony, Agrawal, Pankaj B., Kline, Antonie D., Wang, Kai, Timmers, H. T. Marc, Lyon, Gholson J.
Published in Human mutation (01.02.2020)
Published in Human mutation (01.02.2020)
Get full text
Journal Article
Web Resource
Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity
Published in Human mutation
(01.05.2020)
Get full text
Journal Article
Mutations in the PH Domain of DNM1 are associated with a nonepileptic phenotype characterized by developmental delay and neurobehavioral abnormalities
Brereton, Emily, Fassi, Emily, Araujo, Gabriel C., Dodd, Jonathan, Telegrafi, Aida, Pathak, Sheel J., Shinawi, Marwan
Published in Molecular genetics & genomic medicine (01.03.2018)
Published in Molecular genetics & genomic medicine (01.03.2018)
Get full text
Journal Article
Widening of the genetic and clinical spectrum of Lamb–Shaffersyndrome, a neurodevelopmental disorder due to SOX5haploinsufficiency
Ash, Zawerton, Mignot Cyril, Sigafoos Ashley, Blackburn, Patrick R, Haseeb Abdul, McWalter Kirsty, Ichikawa Shoji, Nava, Caroline, Keren, Boris, Perrine, Charles, Marey Isabelle, Tabet Anne-Claude, Levy, Jonathan, Perrin, Laurence, Hartmann, Andreas, Lesca Gaetan, Schluth-Bolard Caroline, Monin, Pauline, Dupuis-Girod, Sophie, Guillen Sacoto Maria J, Schnur, Rhonda E, Zhu Zehua, Poisson, Alice, Salima, El Chehadeh, Alembik Yves, Ange-Line, Bruel, Lehalle Daphné, Nambot Sophie, Moutton Sébastien, Odent Sylvie, Jaillard Sylvie, Dubourg Christèle, Hilhorst-Hofstee Yvonne, Barbaro-Dieber Tina, Ortega, Lucia, Bhoj, Elizabeth J, Masser-Frye, Diane, Bird, Lynne M, Lindstrom, Kristin, Ramsey, Keri M, Narayanan Vinodh, Fassi, Emily, Willing, Marcia, Cole, Trevor, Salter, Claire G, Akilapa Rhoda, Vandersteen, Anthony, Canham, Natalie, Rump, Patrick, Gerkes, Erica H, Klein Wassink-Ruiter Jolien S, Bijlsma Emilia, Hoffer, Mariëtte J, Vargas, Marcelo, Wojcik Antonina, Cherik Florian, Francannet Christine, Rosenfeld, Jill A, Machol Keren, Scott, Daryl A, Bacino, Carlos A, Wang, Xia, Clark, Gary D, Bertoli, Marta, Zwolinski, Simon, Thomas, Rhys H, Akay Ela, Chang, Richard C, Bressi Rebekah, Sanchez Russo Rossana, Srour Myriam, Russell, Laura, Goyette, Anne-Marie E, Dupuis Lucie, Mendoza-Londono, Roberto, Karimov, Catherine, Maries, Joseph, Nizon Mathilde, Cogné Benjamin, Kuechler Alma, Piton Amélie, Klee, Eric W, Lefebvre Véronique, Clark, Karl J, Depienne Christel
Published in Genetics in medicine (01.03.2020)
Published in Genetics in medicine (01.03.2020)
Get full text
Journal Article
Mutations in the PH Domain of DNM 1 are associated with a nonepileptic phenotype characterized by developmental delay and neurobehavioral abnormalities
Brereton, Emily, Fassi, Emily, Araujo, Gabriel C., Dodd, Jonathan, Telegrafi, Aida, Pathak, Sheel J., Shinawi, Marwan
Published in Molecular genetics & genomic medicine (01.03.2018)
Published in Molecular genetics & genomic medicine (01.03.2018)
Get full text
Journal Article