Exome/Genome Sequencing in Undiagnosed Syndromes

por Sullivan, Jennifer A., Schoch, Kelly, Spillmann, Rebecca C., Shashi, Vandana
Publicado 2023

Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network

por Cope, Heidi, Spillmann, Rebecca, Rosenfeld, Jill A., Brokamp, Elly, Signer, Rebecca, Schoch, Kelly, Kelley, Emily G., Sullivan, Jennifer A., Macnamara, Ellen, Lincoln, Sharyn, Golden‐Grant, Katie, Orengo, James P., Clark, Gary, Burrage, Lindsay C., Posey, Jennifer E., Punetha, Jaya, Robertson, Amy, Cogan, Joy, Phillips, John A., Martinez‐Agosto, Julian, Shashi, Vandana
Publicado 2020

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

por Pena, Loren DM, Jiang, Yong-Hui, Schoch, Kelly, Spillmann, Rebecca C., Walley, Nicole, Stong, Nicholas, Horn, Sarah Rapisardo, Sullivan, Jennifer A., McConkie-Rosell, Allyn, Kansagra, Sujay, Smith, Edward C., El-Dairi, Mays, Bellet, Jane, Ann Keels, Martha, Jasien, Joan, Kranz, Peter G., Noel, Richard, Nagaraj, Shashi K., Lark, Robert K., Wechsler, Daniel SG, del Gaudio, Daniela, Leung, Marco L., Hendon, Laura G., Parker, Collette C., Jones, Kelly L., Goldstein, David B., Shashi, Vandana
Publicado 2017

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

por Lenaerts, Lisa, Reynhout, Sara, Verbinnen, Iris, Laumonnier, Frédéric, Toutain, Annick, Bonnet-Brilhault, Frédérique, Hoorne, Yana, Joss, Shelagh, Chassevent, Anna K., Smith-Hicks, Constance, Loeys, Bart, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mehta, Sarju G., Chung, Wendy K., Devriendt, Koenraad, Holder, Susan E., Jewett, Tamison, Baldwin, Lauren M., Wilson, William G., Towner, Shelley, Srivastava, Siddharth, Johnson, Hannah F., Daumer-Haas, Cornelia, Baethmann, Martina, Ruiz, Anna, Gabau, Elisabeth, Jain, Vani, Varghese, Vinod, Al-Beshri, Ali, Fulton, Stephen, Wechsberg, Oded, Orenstein, Naama, Prescott, Katrina, Childs, Anne-Marie, Faivre, Laurence, Moutton, Sébastien, Sullivan, Jennifer A., Shashi, Vandana, Koudijs, Suzanne M., Heijligers, Malou, Kivuva, Emma, McTague, Amy, Male, Alison, van Ierland, Yvette, Plecko, Barbara, Maystadt, Isabelle, Hamid, Rizwan, Hannig, Vickie L., Houge, Gunnar, Janssens, Veerle
Publicado 2020

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

por Brunet, Theresa, McWalter, Kirsty, Mayerhanser, Katharina, Anbouba, Grace M., Armstrong-Javors, Amy, Bader, Ingrid, Baugh, Evan, Begtrup, Amber, Bupp, Caleb P., Callewaert, Bert L., Cereda, Anna, Cousin, Margot A., Del Rey Jimenez, Juan C., Demmer, Laurie, Dsouza, Nikita R., Fleischer, Nicole, Gavrilova, Ralitza H., Ghate, Sumedha, Graf, Elisabeth, Green, Andrew, Green, Sarah R., Iascone, Maria, Kdissa, Ameni, Klee, Dirk, Klee, Eric W., Lancaster, Emily, Lindstrom, Kristin, Mayr, Johannes A., McEntagart, Meriel, Meeks, Naomi J. L., Mittag, Dana, Moore, Harrison, Olsen, Anne K., Ortiz, Damara, Parsons, Gretchen, Pena, Loren D. M., Person, Richard E., Punj, Sumit, Ramos-Rivera, Gonzalo Alonso, Sacoto, Maria J. Guillen, Bradley Schaefer, G., Schnur, Rhonda E., Scott, Tiana M., Scott, Daryl A., Serbinski, Carolyn R., Shashi, Vandana, Siu, Victoria M., Stadheim, Barbro Fossøy, Sullivan, Jennifer A., Švantnerová, Jana, Velsher, Lea, Wargowski, David S., Wentzensen, Ingrid M., Wieczorek, Dagmar, Winkelmann, Juliane, Yap, Patrick, Zech, Michael, Zimmermann, Michael T., Meitinger, Thomas, Distelmaier, Felix, Wagner, Matias
Publicado 2020

Canadian Society of Allergy and Clinical Immunology annual scientific meeting 2016

por Alsayegh, Mohammad A., Alshamali, Hanan, Khadada, Mousa, Ciccolini, Amanda, Ellis, Anne K., Quint, Diana, Powley, William, Lee, Laurie, Fiteih, Yahya, Baksh, Shairaz, Vliagoftis, Harissios, Gerega, Sebastien K., Millson, Brad, Charland, Katia, Barakat, Stephane, Sun, Xichun, Jimenez, Ricardo, Waserman, Susan, FitzGerald, Mark J., Hébert, Jacques, Cognet-Sicé, Josiane, Renahan, Kevin E., Huq, Saiful, Chooniedass, Rishma, Sawyer, Scott, Pasterkamp, Hans, Becker, Allan, Smith, Steven G., Zhang, Shiyuan, Jayasundara, Kavisha, Tacon, Claire, Simidchiev, Alex, Nadeau, Gilbert, Gunsoy, Necdet, Mullerova, Hana, Albers, Frank, Kim, Young Woong, Shannon, Casey P., Singh, Amrit, Neighbour, Helen, Larché, Mark, Tebbutt, Scott J., Klopp, Annika, Vehling, Lorena, Becker, Allan B., Subbarao, Padmaja, Mandhane, Piushkumar J., Turvey, Stuart E., Sears, Malcolm R., Azad, Meghan B., Loewen, Keely, Monchka, Barret, Mahmud, Salaheddin M., Jong, Geert ‘t, Longo, Cristina, Bartlett, Gillian, Ducharme, Francine M., Schuster, Tibor, MacGibbon, Brenda, Barnett, Tracie, North, Michelle L., Brook, Jeff, Lee, Elizabeth, Omana, Vanessa, Thiele, Jenny, Steacy, Lisa M., Evans, Greg, Diamond, Miriam, Sussman, Gordon L., Amistani, Yann, Abiteboul, Kathy, Tenn, Mark W., Yang, ChenXi, Carlsten, Christopher, Conway, Edward M., Mack, Douglas, Othman, Yasmin, Barber, Colin M., Kalicinsky, Chrystyna, Burke, Andrea E., Messieh, Mary, Nair, Parameswaran, Che, Chun T., Douglas, Lindsay, Liem, Joel, Duan, Lucy, Miller, Charlotte, Dupuis, Pascale, Connors, Lori A., Fein, Michael N., Shuster, Joseph, Hadi, Hani, Polk, Brooke, Raje, Nikita, Labrosse, Roxane, Bégin, Philippe, Paradis, Louis, Roches, Anne Des, Lacombe-Barrios, Jonathan, Mishra, Sanju, Lacuesta, Gina, Chiasson, Meredith, Haroon, Babar, Robertson, Kara, Issekutz, Thomas, Leddin, Desmond, Couban, Stephen, Connors, Lori, Roos, Adrienne, Kanani, Amin, Chan, Edmond S., Schellenberg, Robert, Rosenfield, Lana, Cvetkovic, Anna, Woodward, Kevin, Quirt, Jaclyn, Watson, Wade T. A., Castilho, Edson, Sullivan, Jennifer A., Temple, Beverley, Martin, Donna, Cook, Victoria E., Mills, Christopher, Portales-Casamar, Elodie, Fu, Lisa W., Ho, Alexander, Zaltzman, Jeffrey, Chen, Lucy, Vadas, Peter, Gabrielli, Sofianne, Clarke, Ann, Eisman, Harley, Morris, Judy, Joseph, Lawrence, LaVieille, Sebastien, Ben-Shoshan, Moshe, Graham, François, Barnes, Charles, Portnoy, Jay, Stagg, Vincent, Simons, Elinor, Lefebvre, Diana, Dai, David, Mandhane, Piushkumar, Sears, Malcolm, Tam, Herman, Simons, F. Estelle R., Alotaibi, Dhaifallah, Dawod, Bassel, Tunis, Matthew C., Marshall, Jean, Desjardins, Marylin, Béland, Marianne, Lejtenyi, Duncan, Drolet, Jean-Phillipe, Lemire, Martine, Tsoukas, Christos, Noya, Francisco J.D., Alizadehfar, Reza, McCusker, Christine T., Mazer, Bruce D., Maestre-Batlle, Danay, Gunawan, Evelyn, Rider, Christopher F., Bølling, Anette K., Pena, Olga M., Suez, Daniel, Melamed, Isaac, Hussain, Iftikhar, Stein, Mark, Gupta, Sudhir, Paris, Kenneth, Fritsch, Sandor, Bourgeois, Christelle, Leibl, Heinz, McCoy, Barbara, Noel, Martin, Yel, Leman, Scott, Ori, Reid, Brenda, Atkinson, Adelle, Kim, Vy Hong-Diep, Roifman, Chaim M., Grunebaum, Eyal, AlSelahi, Eiman, Aleman, Fernando, Oberle, Amber, Trus, Mike, Sussman, Gordon, Kanani, Amin S., Chambenoi, Olivier, Chiva-Razavi, Sima, Grodecki, Savannah, Joshi, Nikhil, Menikefs, Peter, Holt, David, Pun, Teresa, Tworek, Damian, Hanna, Raphael, Heroux, Delia, Rosenberg, Elli, Stiemsma, Leah, Turvey, Stuart, Denburg, Judah, Mill, Christopher, Teoh, Timothy, Zimmer, Preeti, Avinashi, Vishal, Paina, Mihaela, Darwish Hassan, Ahmed A., Oliveria, John Paul, Olesovsky, Chris, Gauvreau, Gail, Pedder, Linda, Keith, Paul K., Plunkett, Greg, Bolner, Michelle, Pourshahnazari, Persia, Stark, Donald, Vostretsova, Kateryna, Moses, Andrew, Wakeman, Andrew, Singer, Alexander, Gerstner, Thomas, Abrams, Elissa, Johnson, Sara F., Woodgate, Roberta L.
Publicado 2017