THE ROLE OF WHOLE GENOME SEQUENCING AS A DIAGNOSTIC TOOL FOR CHILDREN WITH MEDICAL COMPLEXITY

著者: Marano, Maria, Orkin, Julia, Hayeems, Robin, Meyn, Stephen, Snell, Meaghan, Costain, Gregory
出版年 Paediatr Child Health (2018)

Diagnostic practices and disease surveillance in Canadian children with congenital central hypoventilation syndrome

著者: Amin, Reshma, Moraes, Theo J, Skitch, Amy, Irwin, Meredith S, Meyn, Stephen, Witmans, Manisha
出版事項 2013

Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome

著者: Weksberg, Rosanna, Stachon, Andrea C., Squire, Jeremy A., Moldovan, Laura, Bayani, Jane, Meyn, Stephen, Chow, Eva, Bassett, Anne S.
出版事項 2006

Northern lights assay: a versatile method for comprehensive detection of DNA damage

著者: Gudmundsson, Bjarki, Thormar, Hans G, Sigurdsson, Albert, Dankers, Wendy, Steinarsdottir, Margret, Hermanowicz, Stefan, Sigurdsson, Stefan, Olafsson, David, Halldorsdottir, Anna M, Meyn, Stephen, Jonsson, Jon J
出版年 Nucleic Acids Res (2018)

PDTM-21. LARGE SCALE TUMOR MUTATIONAL BURDEN ANALYSIS OF PEDIATRIC TUMORS PROVIDES A DIAGNOSTIC TOOL FOR GERMLINE PREDISPOSITION AND REVEALS NOVEL CANDIDATES FOR IMMUNE CHECKPOINT...

著者: Campbell, Brittany B, Angelini, Paola, Light, Nicholas, Bouffet, Eric, Larouche, Valerie, Samuel, David, Stearns, Duncan, Cole, Kristina A, Opocher, Enrico, Sabel, Magnus, George, Ben, Ziegler, David, Laperriere, Normand, Meyn, Stephen, Malkin, David, Shlien, Adam, Tabori, Uri
出版年 Neuro Oncol (2017)

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

著者: Nellåker, Christoffer, Alkuraya, Fowzan S., Baynam, Gareth, Bernier, Raphael A., Bernier, Francois P.J., Boulanger, Vanessa, Brudno, Michael, Brunner, Han G., Clayton-Smith, Jill, Cogné, Benjamin, Dawkins, Hugh J.S., deVries, Bert B.A., Douzgou, Sofia, Dudding-Byth, Tracy, Eichler, Evan E., Ferlaino, Michael, Fieggen, Karen, Firth, Helen V., FitzPatrick, David R., Gration, Dylan, Groza, Tudor, Haendel, Melissa, Hallowell, Nina, Hamosh, Ada, Hehir-Kwa, Jayne, Hitz, Marc-Phillip, Hughes, Mark, Kini, Usha, Kleefstra, Tjitske, Kooy, R Frank, Krawitz, Peter, Küry, Sébastien, Lees, Melissa, Lyon, Gholson J., Lyonnet, Stanislas, Marcadier, Julien L., Meyn, Stephen, Moslerová, Veronika, Politei, Juan M., Poulton, Cathryn C., Raymond, F Lucy, Reijnders, Margot R.F., Robinson, Peter N., Romano, Corrado, Rose, Catherine M., Sainsbury, David C.G., Schofield, Lyn, Sutton, Vernon R., Turnovec, Marek, Van Dijck, Anke, Van Esch, Hilde, Wilkie, Andrew O.M.
出版年 Front Genet (2019)

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

著者: Rots, Dmitrijs, Chater-Diehl, Eric, Dingemans, Alexander J.M., Goodman, Sarah J., Siu, Michelle T., Cytrynbaum, Cheryl, Choufani, Sanaa, Hoang, Ny, Walker, Susan, Awamleh, Zain, Charkow, Joshua, Meyn, Stephen, Pfundt, Rolph, Rinne, Tuula, Gardeitchik, Thatjana, de Vries, Bert B.A., Deden, A. Chantal, Leenders, Erika, Kwint, Michael, Stumpel, Constance T.R.M., Stevens, Servi J.C., Vermeulen, Jeroen R., van Harssel, Jeske V.T., Bosch, Danielle G.M., van Gassen, Koen L.I., van Binsbergen, Ellen, de Geus, Christa M., Brackel, Hein, Hempel, Maja, Lessel, Davor, Denecke, Jonas, Slavotinek, Anne, Strober, Jonathan, Crunk, Amy, Folk, Leandra, Wentzensen, Ingrid M., Yang, Hui, Zou, Fanggeng, Millan, Francisca, Person, Richard, Xie, Yili, Liu, Shuxi, Ousager, Lilian B., Larsen, Martin, Schultz-Rogers, Laura, Morava, Eva, Klee, Eric W., Berry, Ian R., Campbell, Jennifer, Lindstrom, Kristin, Pruniski, Brianna, Neumeyer, Ann M., Radley, Jessica A., Phornphutkul, Chanika, Schmidt, Berkley, Wilson, William G., Õunap, Katrin, Reinson, Karit, Pajusalu, Sander, van Haeringen, Arie, Ruivenkamp, Claudia, Cuperus, Roos, Santos-Simarro, Fernando, Palomares-Bralo, María, Pacio-Míguez, Marta, Ritter, Alyssa, Bhoj, Elizabeth, Tønne, Elin, Tveten, Kristian, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Rowe, Leah, Bunn, Jason, Saenz, Margarita, Platzer, Konrad, Mertens, Mareike, Caluseriu, Oana, Nowaczyk, Małgorzata J.M., Cohn, Ronald D., Kannu, Peter, Alkhunaizi, Ebba, Chitayat, David, Scherer, Stephen W., Brunner, Han G., Vissers, Lisenka E.L.M., Kleefstra, Tjitske, Koolen, David A., Weksberg, Rosanna
出版年 Am J Hum Genet (2021)