Protocol for a Prospective, Observational Cost-effectiveness Analysis of Returning Secondary Findings of Genome Sequencing for Unexplained Suspected Genetic Conditions von Ungar, Wendy J., Hayeems, Robin Z., Marshall, Christian R., Gillespie, Meredith K., Szuto, Anna, Chisholm, Caitlin, James Stavropoulos, D., Huang, Lijia, Jarinova, Olga, Wu, Vercancy, Tsiplova, Kate, Lau, Lynnette, Lee, Whiwon, Venkataramanan, Viji, Sawyer, Sarah, Mendoza-Londono, Roberto, Somerville, Martin J., Boycott, Kym M.

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Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability von Heidari, Abolfazl, Tongsook, Chanakan, Najafipour, Reza, Musante, Luciana, Vasli, Nasim, Garshasbi, Masoud, Hu, Hao, Mittal, Kirti, McNaughton, Amy J M, Sritharan, Kumudesh, Hudson, Melissa, Stehr, Henning, Talebi, Saeid, Moradi, Mohammad, Darvish, Hossein, Arshad Rafiq, Muhammad, Mozhdehipanah, Hossein, Rashidinejad, Ali, Samiei, Shahram, Ghadami, Mohsen, Windpassinger, Christian, Gillessen-Kaesbach, Gabriele, Tzschach, Andreas, Ahmed, Iltaf, Mikhailov, Anna, Stavropoulos, D James, Carter, Melissa T, Keshavarz, Soraya, Ayub, Muhammad, Najmabadi, Hossein, Liu, Xudong, Ropers, Hans Hilger, Macheroux, Peter, Vincent, John B

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Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability von Borlot, Felippe, Regan, Brigid M, Bassett, Anne S, Stavropoulos, D. James, Andrade, Danielle M

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Severe intellectual disability and autistic features associated with microduplication 2q23.1 von CHUNG, Brian Hy, MULLEGAMA, Sureni, JAMES STAVROPOULOS, D, ELSEA, Sarah H, MENDOZA-LONDONO, Roberto, MARSHALL, Christian R, LIONEL, Anath C, WEKSBERG, Rosanna, DUPUIS, Lucie, BRICK, Lauren, CHUMEI LI, SCHERER, Stephen W, ARADHYA, Swaroop

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Developmental implications of genetic testing for physical indications von Baribeau, Danielle A, Hoang, Ny, Selvanayagam, Thanuja, Stavropoulos, D James, Costain, Gregory, Scherer, Stephen W, Vorstman, Jacob

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Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders von Costain, Gregory, Walker, Susan, Argiropoulos, Bob, Baribeau, Danielle A, Bassett, Anne S, Boot, Erik, Devriendt, Koen, Kellam, Barbara, Marshall, Christian R, Prasad, Aparna, Serrano, Moises A, Stavropoulos, D James, Twede, Hope, Vermeesch, Joris R, Vorstman, Jacob A S, Scherer, Stephen W

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Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray von Hayeems, Robin Z, Bhawra, Jasmin, Tsiplova, Kate, Meyn, M Stephen, Monfared, Nasim, Bowdin, Sarah, Stavropoulos, D James, Marshall, Christian R, Basran, Raveen, Shuman, Cheryl, Ito, Shinya, Cohn, Iris, Hum, Courtney, Girdea, Marta, Brudno, Michael, Cohn, Ronald D, Scherer, Stephen W, Ungar, Wendy J

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Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity von Costain, Gregory, Walker, Susan, Marano, Maria, Veenma, Danielle, Snell, Meaghan, Curtis, Meredith, Luca, Stephanie, Buera, Jason, Arje, Danielle, Reuter, Miriam S, Thiruvahindrapuram, Bhooma, Trost, Brett, Sung, Wilson W L, Yuen, Ryan K C, Chitayat, David, Mendoza-Londono, Roberto, Stavropoulos, D James, Scherer, Stephen W, Marshall, Christian R, Cohn, Ronald D, Cohen, Eyal, Orkin, Julia, Meyn, M Stephen, Hayeems, Robin Z

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16q22.1 microdeletion and anticipatory guidance von Abdullah, Sarah, Helal, Mayada, Dupuis, Lucie, Stavropoulos, D. James, Louro, Pedro, Ramos, Lina, Mendoza‐Londono, Roberto

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Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia von Elkadri, Abdul, Thoeni, Cornelia, Deharvengt, Sophie J, Murchie, Ryan, Guo, Conghui, Stavropoulos, James D, Marshall, Christian R, Wales, Paul, Bandsma, Robert H.J, Cutz, Ernest, Roifman, Chaim M, Chitayat, David, Avitzur, Yaron, Stan, Radu V, Muise, Aleixo M

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Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage von Dale, Breanne, Modi, Bonnie MacKinnon, Jilderda, Sanne, McConnell, Beth, Hoang, Ny, Swaroop, Pooja, Falcon, Jhoan, Thiruvahindrapuram, Bhooma, Walker, Susan, Scherer, Stephen W., Stavropoulos, D. James, Drmic, Irene E., Carter, Melissa T.

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New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder von Szot, Justin O., Slavotinek, Anne, Chong, Karen, Brandau, Oliver, Nezarati, Marjan, Cueto‐González, Anna M., Patel, Millan S., Devine, Walter P., Rego, Shannon, Acyinena, Alicia P., Shannon, Patrick, Myles‐Reid, Diane, Blaser, Susan, Mieghem, Tim V., Yavuz‐Kienle, Halenur, Skladny, Heyko, Miller, Kristen, Riera, Miereia D. T., Martínez, Silvia A., Tizzano, Eduardo F., Dupuis, Lucie, James Stavropoulos, Dimitri, McNiven, Vanda, Mendoza‐Londono, Roberto, Elliott, Alison M., Phillips, Robert S., Chapman, Gavin, Dunwoodie, Sally L.

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Recommendations for the integration of genomics into clinical practice von Bowdin, Sarah, Gilbert, Adel, Bedoukian, Emma, Carew, Christopher, Adam, Margaret P., Belmont, John, Bernhardt, Barbara, Biesecker, Leslie, Bjornsson, Hans T., Blitzer, Miriam, D’Alessandro, Lisa C.A., Deardorff, Matthew A., Demmer, Laurie, Elliott, Alison, Feldman, Gerald L., Glass, Ian A., Herman, Gail, Hindorff, Lucia, Hisama, Fuki, Hudgins, Louanne, Innes, A. Micheil, Jackson, Laird, Jarvik, Gail, Kim, Raymond, Korf, Bruce, Ledbetter, David H., Li, Mindy, Liston, Eriskay, Marshall, Christian, Medne, Livija, Meyn, M. Stephen, Monfared, Nasim, Morton, Cynthia, Mulvihill, John J., Plon, Sharon E., Rehm, Heidi, Roberts, Amy, Shuman, Cheryl, Spinner, Nancy B., Stavropoulos, D. James, Valverde, Kathleen, Waggoner, Darrel J., Wilkens, Alisha, Cohn, Ronald D., Krantz, Ian D.

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MG-108 Agenesis of the corpus callosum and autism associated with zeb1 gene deletion – a case report von Inbar-Feigenberg, Michal, Chung, Brian HY, Marshall, Christian R, Merico, Daniele, Stavropoulos, D James, Chitayat, David

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MG-106 Global developmental delay and characteristic facial features associated with pacs1 gene mutation – report of two cases von Chad, Lauren, Chung, Brian HY, Marshall, Christian R, Merico, Daniele, Babul-Hirji, Riyana, Stavropoulos, D James, Chitayat, David

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Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder von Mullegama, Sureni V, Rosenfeld, Jill A, Orellana, Carmen, van Bon, Bregje W M, Halbach, Sara, Repnikova, Elena A, Brick, Lauren, Li, Chumei, Dupuis, Lucie, Rosello, Monica, Aradhya, Swaroop, Stavropoulos, D James, Manickam, Kandamurugu, Mitchell, Elyse, Hodge, Jennelle C, Talkowski, Michael E, Gusella, James F, Keller, Kory, Zonana, Jonathan, Schwartz, Stuart, Pyatt, Robert E, Waggoner, Darrel J, Shaffer, Lisa G, Lin, Angela E, de Vries, Bert B A, Mendoza-Londono, Roberto, Elsea, Sarah H

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Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders von Costain, Gregory, Walker, Susan, Argiropoulos, Bob, Baribeau, Danielle A, Bassett, Anne S, Boot, Erik, Devriendt, Koen, Kellam, Barbara, Marshall, Christian R, Prasad, Aparna, Serrano, Moises A, Stavropoulos, D. James, Twede, Hope, Vermeesch, Joris R, Vorstman, Jacob A.S, Scherer, Stephen W

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Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and HypertriglyceridemiaSummary von Abdul Elkadri, Cornelia Thoeni, Sophie J. Deharvengt, Ryan Murchie, Conghui Guo, James D. Stavropoulos, Christian R. Marshall, Paul Wales, Robert H.J. Bandsma, Ernest Cutz, Chaim M. Roifman, David Chitayat, Yaron Avitzur, Radu V. Stan, Aleixo M. Muise

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Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage von Dale, Breanne, Modi, Bonnie MacKinnon, Jilderda, Sanne, McConnell, Beth, Hoang, Ny, Swaroop, Pooja, Falcon, Jhoan, Thiruvahindrapuram, Bhooma, Walker, Susan, Scherer, Stephen W, Stavropoulos, D James, Drmic, Irene E, Carter, Melissa T

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A comparative study of barrier membranes as graft protectors in the treatment of localized bone defects. An experimental study in a canine model von Stavropoulos, Franci, Dahlin, Christer, Ruskin, James D, Johansson, Carina

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