Anatomy of DNA methylation signatures: Emerging insights and applications by Chater-Diehl, Eric, Goodman, Sarah J., Cytrynbaum, Cheryl, Turinsky, Andrei L., Choufani, Sanaa, Weksberg, Rosanna

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Development of a storytelling communication facilitation tool (SCFT) to facilitate discussion of complex genetic diagnoses between parents and their children: A pilot study using 2... by Bogatan, Simina, Shugar, Andrea, Wasim, Syed, Ball, Susan, Schmidt, Cathryn, Chitayat, David, Shuman, Cheryl, Cytrynbaum, Cheryl

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New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome by Chater-Diehl, Eric, Ejaz, Resham, Cytrynbaum, Cheryl, Siu, Michelle T, Turinsky, Andrei, Choufani, Sanaa, Goodman, Sarah J, Abdul-Rahman, Omar, Bedford, Melanie, Dorrani, Naghmeh, Engleman, Kendra, Flores-Daboub, Josue, Genevieve, David, Mendoza-Londono, Roberto, Meschino, Wendy, Perrin, Laurence, Safina, Nicole, Townshend, Sharron, Scherer, Stephen W, Anagnostou, Evdokia, Piton, Amelie, Deardorff, Matthew, Brudno, Michael, Chitayat, David, Weksberg, Rosanna

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The mental health and traumatic experiences of mothers of children with 22q11DS by Finless, Alexandra, Rideout, Andrea L, Xiong, Ting, Carbyn, Holly, Lingley-Pottie, Patricia, Palmer, Lisa D, Shugar, Andrea, McDonald-McGinn, Donna M, McGrath, Patrick J, Bassett, Anne S, Cytrynbaum, Cheryl, Orr, Matt, Swillen, Ann, Meier, Sandra

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Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell-Silver syndrome by Cytrynbaum, Cheryl, Chong, Karen, Hannig, Vickie, Choufani, Sanaa, Shuman, Cheryl, Steele, Leslie, Morgan, Thomas, Scherer, Stephen W., Stavropoulos, Dimitri J., Basran, Raveen K., Weksberg, Rosanna

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Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome by Zampino, Giuseppe, Pantaleoni, Francesca, Carta, Claudio, Cobellis, Gilda, Vasta, Isabella, Neri, Cinzia, Pogna, Edgar A., De Feo, Emma, Delogu, Angelica, Sarkozy, Anna, Atzeri, Francesca, Selicorni, Angelo, Rauen, Katherine A., Cytrynbaum, Cheryl S., Weksberg, Rosanna, Dallapiccola, Bruno, Ballabio, Andrea, Gelb, Bruce D., Neri, Giovanni, Tartaglia, Marco

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Communicating complex genomic information: A counselling approach derived from research experience with Autism Spectrum Disorder by Hoang, Ny, Cytrynbaum, Cheryl, Scherer, Stephen W.

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Epigenetic signatures in overgrowth syndromes: Translational opportunities by Cytrynbaum, Cheryl, Choufani, Sanaa, Weksberg, Rosanna

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Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test by Lionel, Anath C, Costain, Gregory, Monfared, Nasim, Walker, Susan, Reuter, Miriam S, Hosseini, S Mohsen, Thiruvahindrapuram, Bhooma, Merico, Daniele, Jobling, Rebekah, Nalpathamkalam, Thomas, Pellecchia, Giovanna, Sung, Wilson W L, Wang, Zhuozhi, Bikangaga, Peter, Boelman, Cyrus, Carter, Melissa T, Cordeiro, Dawn, Cytrynbaum, Cheryl, Dell, Sharon D, Dhir, Priya, Dowling, James J, Heon, Elise, Hewson, Stacy, Hiraki, Linda, Inbar-Feigenberg, Michal, Klatt, Regan, Kronick, Jonathan, Laxer, Ronald M, Licht, Christoph, MacDonald, Heather, Mercimek-Andrews, Saadet, Mendoza-Londono, Roberto, Piscione, Tino, Schneider, Rayfel, Schulze, Andreas, Silverman, Earl, Siriwardena, Komudi, Snead, O Carter, Sondheimer, Neal, Sutherland, Joanne, Vincent, Ajoy, Wasserman, Jonathan D, Weksberg, Rosanna, Shuman, Cheryl, Carew, Chris, Szego, Michael J, Hayeems, Robin Z, Basran, Raveen, Stavropoulos, Dimitri J, Ray, Peter N, Bowdin, Sarah, Meyn, M Stephen, Cohn, Ronald D, Scherer, Stephen W, Marshall, Christian R

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Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification by Stachon, Andrea C., Baskin, Berivan, Smith, Adam C., Shugar, Andrea, Cytrynbaum, Cheryl, Fishman, Leona, Mendoza-Londono, Roberto, Klatt, Regan, Teebi, Ahmed, Ray, Peter N., Weksberg, Rosanna

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CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions by Butcher, Darci T., Cytrynbaum, Cheryl, Turinsky, Andrei L., Siu, Michelle T., Inbar-Feigenberg, Michal, Mendoza-Londono, Roberto, Chitayat, David, Walker, Susan, Machado, Jerry, Caluseriu, Oana, Dupuis, Lucie, Grafodatskaya, Daria, Reardon, William, Gilbert-Dussardier, Brigitte, Verloes, Alain, Bilan, Frederic, Milunsky, Jeff M., Basran, Raveen, Papsin, Blake, Stockley, Tracy L., Scherer, Stephen W., Choufani, Sanaa, Brudno, Michael, Weksberg, Rosanna

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The health risks of ART by Grafodatskaya, Daria, Cytrynbaum, Cheryl, Weksberg, Rosanna

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Practical guidelines for managing adults with 22q11.2 deletion syndrome by Fung, Wai Lun Alan, Butcher, Nancy J, Costain, Gregory, Andrade, Danielle M, Boot, Erik, Chow, Eva W C, Chung, Brian, Cytrynbaum, Cheryl, Faghfoury, Hanna, Fishman, Leona, García-Miñaúr, Sixto, George, Susan, Lang, Anthony E, Repetto, Gabriela, Shugar, Andrea, Silversides, Candice, Swillen, Ann, van Amelsvoort, Therese, McDonald-McGinn, Donna M, Bassett, Anne S

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ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome by Awamleh, Zain, Choufani, Sanaa, Cytrynbaum, Cheryl, Alkuraya, Fowzan S, Scherer, Stephen, Fernandes, Sofia, Rosas, Catarina, Louro, Pedro, Dias, Patricia, Neves, Mariana Tomásio, Sousa, Sérgio B, Weksberg, Rosanna

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Sirolimus for vascular anomalies associated with PTEN hamartoma tumor syndrome by Zabeida, Alexandra, Brzezinski, Jack J, Wasserman, Jonathan D, Cytrynbaum, Cheryl, Weksberg, Rosanna, Zwicker, Kelley, Zbuk, Kevin, Gasparetto, Alessandro, Willis, Laura, Fantauzzi, Michelle, Carcao, Manuel

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

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DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes by Choufani, Sanaa, Gibson, William T., Turinsky, Andrei L., Chung, Brian H.Y., Wang, Tianren, Garg, Kopal, Vitriolo, Alessandro, Cohen, Ana S.A., Cyrus, Sharri, Goodman, Sarah, Chater-Diehl, Eric, Brzezinski, Jack, Brudno, Michael, Ming, Luk Ho, White, Susan M., Lynch, Sally Ann, Clericuzio, Carol, Temple, I. Karen, Flinter, Frances, McConnell, Vivienne, Cushing, Tom, Bird, Lynne M., Splitt, Miranda, Kerr, Bronwyn, Scherer, Stephen W., Machado, Jerry, Imagawa, Eri, Okamoto, Nobuhiko, Matsumoto, Naomichi, Testa, Guiseppe, Iascone, Maria, Tenconi, Romano, Caluseriu, Oana, Mendoza-Londono, Roberto, Chitayat, David, Cytrynbaum, Cheryl, Tatton-Brown, Katrina, Weksberg, Rosanna

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De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism by Guillen Sacoto, Maria J., Tchasovnikarova, Iva A., Torti, Erin, Forster, Cara, Andrew, E. Hallie, Anselm, Irina, Baranano, Kristin W., Briere, Lauren C., Cohen, Julie S., Craigen, William J., Cytrynbaum, Cheryl, Ekhilevitch, Nina, Elrick, Matthew J., Fatemi, Ali, Fraser, Jamie L., Gallagher, Renata C., Guerin, Andrea, Haynes, Devon, High, Frances A., Inglese, Cara N., Kiss, Courtney, Koenig, Mary Kay, Krier, Joel, Lindstrom, Kristin, Marble, Michael, Meddaugh, Hannah, Moran, Ellen S., Morel, Chantal F., Mu, Weiyi, Muller, Eric A., Nance, Jessica, Natowicz, Marvin R., Numis, Adam L., Ostrem, Bridget, Pappas, John, Stafstrom, Carl E., Streff, Haley, Sweetser, David A., Szybowska, Marta, Walker, Melissa A., Wang, Wei, Weiss, Karin, Weksberg, Rosanna, Wheeler, Patricia G., Yoon, Grace, Kingston, Robert E., Juusola, Jane

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RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation by Revencu, Nicole, Boon, Laurence M., Mendola, Antonella, Cordisco, Maria Rosa, Dubois, Josée, Clapuyt, Philippe, Hammer, Frank, Amor, David J., Irvine, Alan D., Baselga, Eulalia, Dompmartin, Anne, Syed, Samira, Martin-Santiago, Ana, Ades, Lesley, Collins, Felicity, Smith, Janine, Sandaradura, Sarah, Barrio, Victoria R., Burrows, Patricia E., Blei, Francine, Cozzolino, Mariarosaria, Brunetti-Pierri, Nicola, Vicente, Asuncion, Abramowicz, Marc, Désir, Julie, Vilain, Catheline, Chung, Wendy K., Wilson, Ashley, Gardiner, Carol A., Dwight, Yim, Lord, David J.E., Fishman, Leona, Cytrynbaum, Cheryl, Chamlin, Sarah, Ghali, Fred, Gilaberte, Yolanda, Joss, Shelagh, Boente, Maria del C., Léauté-Labrèze, Christine, Delrue, Marie-Ange, Bayliss, Susan, Martorell, Loreto, González-Enseñat, Maria-Antonia, Mazereeuw-Hautier, Juliette, O'Donnell, Brid, Bessis, Didier, Pyeritz, Reed E., Salhi, Aicha, Tan, Oon T., Wargon, Orli, Mulliken, John B., Vikkula, Miikka

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Novel heterozygous variants in PXDN cause different anterior segment dysgenesis phenotypes in monozygotic twins by Zhu, Angela Y, Costain, Gregory, Cytrynbaum, Cheryl, Weksberg, Rosanna, Cohn, Ronald D, Ali, Asim

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