A Case Report of Immunotherapy-Resistant MSI-H Gastric Cancer with Significant Intrapatient Tumoral Heterogeneity Characterized by Histologic Dedifferentiation by Nikhila Kethireddy, Leonidas Arvanitis, Janine LoBello, Yanghee Woo, Szabolcs Szelinger, Joseph Chao

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P077: Have we considered mosaicism? A nearly missed molecular diagnosis of von Hippel-Lindau by Wai Park, Elyssa Zukin, Rachelle Manookian, Kevin McDonnell, Szabolcs Szelinger, Ali Zhumkhawala, Stacy Gray

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Underreporting of SMARCB1 alteration by clinical sequencing: Integrative patho-genomic analysis captured SMARCB1/INI-1 deficiency in a vulvar yolk sac tumor by Christina H. Wei, Edward Wang, Evita Sadimin, Lorna Rodriguez-Rodriguez, Mark Agulnik, Janet Yoon, Janine LoBello, Szabolcs Szelinger, Clarke Anderson

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Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays. by Nils Homer, Szabolcs Szelinger, Margot Redman, David Duggan, Waibhav Tembe, Jill Muehling, John V Pearson, Dietrich A Stephan, Stanley F Nelson, David W Craig

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Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations by Keri Ramsey, Newell Belnap, Anna Bonfitto, Wayne Jepsen, Marcus Naymik, Meredith Sanchez‐Castillo, David W. Craig, Szabolcs Szelinger, Matthew J. Huentelman, Vinodh Narayanan, Sampath Rangasamy

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Characterization of X chromosome inactivation using integrated analysis of whole-exome and mRNA sequencing. by Szabolcs Szelinger, Ivana Malenica, Jason J Corneveaux, Ashley L Siniard, Ahmet A Kurdoglu, Keri M Ramsey, Isabelle Schrauwen, Jeffrey M Trent, Vinodh Narayanan, Matthew J Huentelman, David W Craig

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A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome. by Isabelle Schrauwen, Szabolcs Szelinger, Ashley L Siniard, Ahmet Kurdoglu, Jason J Corneveaux, Ivana Malenica, Ryan Richholt, Guy Van Camp, Matt De Both, Shanker Swaminathan, Mari Turk, Keri Ramsey, David W Craig, Vinodh Narayanan, Matthew J Huentelman

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Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disabilit... by Erika Banuelos, Keri Ramsey, Newell Belnap, Malavika Krishnan, Chris Balak, Szabolcs Szelinger, Ashley L. Siniard, Megan Russell, Ryan Richholt, Matt De Both, Ignazio Piras, Marcus Naymik, Ana M. Claasen, Sampathkumar Rangasamy, Matthew J. Huentelman, David W. Craig, Philippe M. Campeau, Vinodh Narayanan, Isabelle Schrauwen

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Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders by Eric Frankel, Avijit Podder, Megan Sharifi, Roshan Pillai, Newell Belnap, Keri Ramsey, Julius Dodson, Pooja Venugopal, Molly Brzezinski, Lorida Llaci, Brittany Gerald, Gabrielle Mills, Meredith Sanchez-Castillo, Chris D. Balak, Szabolcs Szelinger, Wayne M. Jepsen, Ashley L. Siniard, Ryan Richholt, Marcus Naymik, Isabelle Schrauwen, David W. Craig, Ignazio S. Piras, Matthew J. Huentelman, Nicholas J. Schork, Vinodh Narayanan, Sampathkumar Rangasamy

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Genome-wide association of bipolar disorder suggests an enrichment of replicable associations in regions near genes. by Erin N Smith, Daniel L Koller, Corrie Panganiban, Szabolcs Szelinger, Peng Zhang, Judith A Badner, Thomas B Barrett, Wade H Berrettini, Cinnamon S Bloss, William Byerley, William Coryell, Howard J Edenberg, Tatiana Foroud, Elliot S Gershon, Tiffany A Greenwood, Yiran Guo, Maria Hipolito, Brendan J Keating, William B Lawson, Chunyu Liu, Pamela B Mahon, Melvin G McInnis, Francis J McMahon, Rebecca McKinney, Sarah S Murray, Caroline M Nievergelt, John I Nurnberger, Evaristus A Nwulia, James B Potash, John Rice, Thomas G Schulze, William A Scheftner, Paul D Shilling, Peter P Zandi, Sebastian Zöllner, David W Craig, Nicholas J Schork, John R Kelsoe

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Genetic Overlap Between Alzheimer’s Disease and Bipolar Disorder Implicates the MARK2 and VAC14 Genes by Ole Kristian Drange, Ole Kristian Drange, Olav Bjerkehagen Smeland, Olav Bjerkehagen Smeland, Alexey A. Shadrin, Per Ivar Finseth, Aree Witoelar, Aree Witoelar, Oleksandr Frei, Psychiatric Genomics Consortium Bipolar Disorder Working Group, Yunpeng Wang, Yunpeng Wang, Sahar Hassani, Sahar Hassani, Srdjan Djurovic, Srdjan Djurovic, Anders M. Dale, Anders M. Dale, Anders M. Dale, Ole A. Andreassen, Ole A. Andreassen, Eli A Stahl, Eli A Stahl, Eli A Stahl, Eli A Stahl, Gerome Breen, Gerome Breen, Gerome Breen, Andreas J Forstner, Andreas J Forstner, Andreas J Forstner, Andreas J Forstner, Andreas J Forstner, Andreas J Forstner, Andrew McQuillin, Andrew McQuillin, Stephan Ripke, Stephan Ripke, Stephan Ripke, Stephan Ripke, Vassily Trubetskoy, Manuel Mattheisen, Manuel Mattheisen, Manuel Mattheisen, Manuel Mattheisen, Manuel Mattheisen, Yunpeng Wang, Yunpeng Wang, Jonathan R I Coleman, Jonathan R I Coleman, Heìleìna A Gaspar, Heìleìna A Gaspar, Christiaan A de Leeuw, Stacy Steinberg, Jennifer M Whitehead Pavlides, Maciej Trzaskowski, Tune H Pers, Tune H Pers, Peter A Holmans, Liam Abbott, Esben Agerbo, Esben Agerbo, Esben Agerbo, Huda Akil, Diego Albani, Ney Alliey-Rodriguez, Thomas D Als, Thomas D Als, Thomas D Als, Adebayo Anjorin, Verneri Antilla, Swapnil Awasthi, Judith A Badner, Marie Bækvad-Hansen, Marie Bækvad-Hansen, Jack D Barchas, Nicholas Bass, Michael Bauer, Richard Belliveau, Sarah E Bergen, Carsten Bøcker Pedersen, Carsten Bøcker Pedersen, Carsten Bøcker Pedersen, Erlend Bøen, Marco Boks, James Boocock, Monika Budde, William Bunney, Margit Burmeister, Jonas Bybjerg-Grauholm, Jonas Bybjerg-Grauholm, William Byerley, Miquel Casas, Miquel Casas, Miquel Casas, Miquel Casas, Felecia Cerrato, Pablo Cervantes, Kimberly Chambert, Alexander W Charney, Danfeng Chen, Claire Churchhouse, Claire Churchhouse, Toni-Kim Clarke, William Coryell, David W Craig, Cristiana Cruceanu, Cristiana Cruceanu, David Curtis, David Curtis, Piotr M Czerski, Anders M Dale, Anders M Dale, Anders M Dale, Anders M Dale, Simone de Jong, Simone de Jong, Franziska Degenhardt, Franziska Degenhardt, Jurgen Del-Favero, J Raymond DePaulo, Srdjan Djurovic, Srdjan Djurovic, Amanda L Dobbyn, Amanda L Dobbyn, Ashley Dumont, Torbjørn Elvsåshagen, Torbjørn Elvsåshagen, Valentina Escott-Price, Chun Chieh Fan, Sascha B Fischer, Sascha B Fischer, Matthew Flickinger, Tatiana M Foroud, Liz Forty, Josef Frank, Christine Fraser, Nelson B Freimer, Louise Friseìn, Louise Friseìn, Louise Friseìn, Katrin Gade, Katrin Gade, Diane Gage, Julie Garnham, Claudia Giambartolomei, Marianne Giørtz Pedersen, Marianne Giørtz Pedersen, Marianne Giørtz Pedersen, Jaqueline Goldstein, Scott D Gordon, Katherine Gordon-Smith, Elaine K Green, Melissa J Green, Tiffany A Greenwood, Jakob Grove, Jakob Grove, Jakob Grove, Jakob Grove, Weihua Guan, Joseì Guzman Parra, Marian L Hamshere, Martin Hautzinger, Urs Heilbronner, Stefan Herms, Stefan Herms, Stefan Herms, Stefan Herms, Maria Hipolito, Per Hoffmann, Per Hoffmann, Per Hoffmann, Per Hoffmann, Dominic Holland, Dominic Holland, Laura Huckins, Laura Huckins, Steìphane Jamain, Steìphane Jamain, Jessica S Johnson, Jessica S Johnson, Anders Jureìus, Radhika Kandaswamy, Robert Karlsson, James L Kennedy, James L Kennedy, James L Kennedy, James L Kennedy, Sarah Kittel-Schneider, Sarah V Knott, James A Knowles, James A Knowles, Manolis Kogevinas, Anna C Koller, Anna C Koller, Ralph Kupka, Ralph Kupka, Ralph Kupka, Catharina Lavebratt, Jacob Lawrence, William B Lawson, Markus Leber, Phil H Lee, Phil H Lee, Phil H Lee, Shawn E Levy, Jun Z Li, Chunyu Liu, Susanne Lucae, Anna Maaser, Anna Maaser, Donald J MacIntyre, Donald J MacIntyre, Pamela B Mahon, Pamela B Mahon, Wolfgang Maier, Lina Martinsson, Steve McCarroll, Steve McCarroll, Peter McGuffin, Melvin G McInnis, James D McKay, Helena Medeiros, Sarah E Medland, Fan Meng, Fan Meng, Lili Milani, Grant W Montgomery, Derek W Morris, Derek W Morris, Thomas W Mühleisen, Thomas W Mühleisen, Niamh Mullins, Hoang Nguyen, Hoang Nguyen, Caroline M Nievergelt, Caroline M Nievergelt, Annelie Nordin Adolfsson, Evaristus A Nwulia, Claire O’Donovan, Loes M Olde Loohuis, Anil P S Ori, Lilijana Oruc, Urban Ösby, Roy H Perlis, Roy H Perlis, Amy Perry, Andrea Pfennig, James B Potash, Shaun M Purcell, Shaun M Purcell, Eline J Regeer, Andreas Reif, Ceìline S Reinbold, Ceìline S Reinbold, John P Rice, Fabio Rivas, Margarita Rivera, Margarita Rivera, Panos Roussos, Panos Roussos, Panos Roussos, Douglas M Ruderfer, Euijung Ryu, Cristina Saìnchez-Mora, Cristina Saìnchez-Mora, Cristina Saìnchez-Mora, Alan F Schatzberg, William A Scheftner, Nicholas J Schork, Cynthia Shannon Weickert, Cynthia Shannon Weickert, Tatyana Shehktman, Paul D Shilling, Engilbert Sigurdsson, Claire Slaney, Olav B Smeland, Olav B Smeland, Olav B Smeland, Janet L Sobell, Christine Søholm Hansen, Christine Søholm Hansen, Anne T Spijker, David St Clair, Michael Steffens, John S Strauss, John S Strauss, Fabian Streit, Jana Strohmaier, Szabolcs Szelinger, Robert C Thompson, Thorgeir E Thorgeirsson, Jens Treutlein, Helmut Vedder, Weiqing Wang, Weiqing Wang, Stanley J Watson, Thomas W Weickert, Thomas W Weickert, Stephanie H Witt, Simon Xi, Wei Xu, Wei Xu, Allan H Young, Peter Zandi, Peng Zhang, Sebastian Zollner, Rolf Adolfsson, Ingrid Agartz, Ingrid Agartz, Ingrid Agartz, Martin Alda, Martin Alda, Lena Backlund, Bernhard T Baune, Frank Bellivier, Frank Bellivier, Frank Bellivier, Frank Bellivier, Wade H Berrettini, Joanna M Biernacka, Douglas H R Blackwood, Michael Boehnke, Anders D Børglum, Anders D Børglum, Anders D Børglum, Aiden Corvin, Nicholas Craddock, Mark J Daly, Mark J Daly, Udo Dannlowski, ToÞnu Esko, ToÞnu Esko, ToÞnu Esko, ToÞnu Esko, Bruno Etain, Bruno Etain, Bruno Etain, Bruno Etain, Mark Frye, Janice M Fullerton, Janice M Fullerton, Elliot S Gershon, Elliot S Gershon, Michael Gill, Fernando Goes, Maria Grigoroiu-Serbanescu, Joanna Hauser, David M Hougaard, David M Hougaard, Christina M Hultman, Ian Jones, Lisa A Jones, Reneì S Kahn, Reneì S Kahn, George Kirov, Mikael Landeìn, Mikael Landeìn, Marion Leboyer, Marion Leboyer, Marion Leboyer, Cathryn M Lewis, Cathryn M Lewis, Cathryn M Lewis, Qingqin S Li, Jolanta Lissowska, Nicholas G Martin, Nicholas G Martin, Fermin Mayoral, Susan L McElroy, Andrew M McIntosh, Andrew M McIntosh, Francis J McMahon, Ingrid Melle, Ingrid Melle, Andres Metspalu, Andres Metspalu, Philip B Mitchell, Gunnar Morken, Gunnar Morken, Ole Mors, Ole Mors, Preben Bo Mortensen, Preben Bo Mortensen, Preben Bo Mortensen, Preben Bo Mortensen, Bertram Müller-Myhsok, Bertram Müller-Myhsok, Bertram Müller-Myhsok, Richard M Myers, Benjamin M Neale, Benjamin M Neale, Benjamin M Neale, Vishwajit Nimgaonkar, Merete Nordentoft, Merete Nordentoft, Markus M Nöthen, Markus M Nöthen, Michael C O’Donovan, Ketil J Oedegaard, Ketil J Oedegaard, Michael J Owen, Sara A Paciga, Carlos Pato, Carlos Pato, Michele T Pato, Danielle Posthuma, Danielle Posthuma, Josep Antoni Ramos-Quiroga, Josep Antoni Ramos-Quiroga, Josep Antoni Ramos-Quiroga, Josep Antoni Ramos-Quiroga, Marta Ribaseìs, Marta Ribaseìs, Marta Ribaseìs, Marcella Rietschel, Guy A Rouleau, Guy A Rouleau, Martin Schalling, Peter R Schofield, Peter R Schofield, Thomas G Schulze, Thomas G Schulze, Thomas G Schulze, Thomas G Schulze, Thomas G Schulze, Alessandro Serretti, Jordan W Smoller, Jordan W Smoller, Jordan W Smoller, Hreinn Stefansson, Kari Stefansson, Kari Stefansson, Eystein Stordal, Eystein Stordal, Patrick F Sullivan, Patrick F Sullivan, Patrick F Sullivan, Gustavo Turecki, Arne E Vaaler, Eduard Vieta, John B Vincent, Thomas Werge, Thomas Werge, Thomas Werge, John I Nurnberger, Naomi R Wray, Naomi R Wray, Arianna Di Florio, Arianna Di Florio, Howard J Edenberg, Sven Cichon, Sven Cichon, Sven Cichon, Sven Cichon, Roel A Ophoff, Roel A Ophoff, Roel A Ophoff, Laura J Scott, Ole A Andreassen, Ole A Andreassen, John Kelsoe, John Kelsoe, Pamela Sklar, Pamela Sklar, Pamela Sklar, Pamela Sklar

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