NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability by Bosch, Daniëlle G.M., Boonstra, F. Nienke, Gonzaga-Jauregui, Claudia, Xu, Mafei, de Ligt, Joep, Jhangiani, Shalini, Wiszniewski, Wojciech, Muzny, Donna M., Yntema, Helger G., Pfundt, Rolph, Vissers, Lisenka E.L.M., Spruijt, Liesbeth, Blokland, Ellen A.W., Chen, Chun-An, Lewis, Richard A., Tsai, Sophia Y., Gibbs, Richard A., Tsai, Ming-Jer, Lupski, James R., Zoghbi, Huda Y., Cremers, Frans P.M., de Vries, Bert B.A., Schaaf, Christian P.

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Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease by Guo, Dong-chuan, Duan, Xue-Yan, Regalado, Ellen S., Mellor-Crummey, Lauren, Kwartler, Callie S., Kim, Dong, Lieberman, Kenneth, de Vries, Bert B.A., Pfundt, Rolph, Schinzel, Albert, Kotzot, Dieter, Shen, Xuetong, Yang, Min-Lee, Bamshad, Michael J., Nickerson, Deborah A., Gornik, Heather L., Ganesh, Santhi K., Braverman, Alan C., Grange, Dorothy K., Milewicz, Dianna M.

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Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel-Van der Aa syndrome by D'Incal, Claudio Peter, Annear, Dale John, Elinck, Ellen, van der Smagt, Jasper J, Alders, Mariëlle, Dingemans, Alexander J M, Mateiu, Ligia, de Vries, Bert B A, Vanden Berghe, Wim, Kooy, R Frank

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Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability by Monroe, Glen R, Frederix, Gerardus W, Savelberg, Sanne M C, de Vries, Tamar I, Duran, Karen J, van der Smagt, Jasper J, Terhal, Paulien A, van Hasselt, Peter M, Kroes, Hester Y, Verhoeven-Duif, Nanda M, Nijman, Isaäc J, Carbo, Ellen C, van Gassen, Koen L, Knoers, Nine V, Hövels, Anke M, van Haelst, Mieke M, Visser, Gepke, van Haaften, Gijs

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De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders by Reynhout, Sara, Jansen, Sandra, Haesen, Dorien, van Belle, Siska, de Munnik, Sonja A., Bongers, Ernie M.H.F., Schieving, Jolanda H., Marcelis, Carlo, Amiel, Jeanne, Rio, Marlène, Mclaughlin, Heather, Ladda, Roger, Sell, Susan, Kriek, Marjolein, Peeters-Scholte, Cacha M.P.C.D., Terhal, Paulien A., van Gassen, Koen L., Verbeek, Nienke, Henry, Sonja, Scott Schwoerer, Jessica, Malik, Saleem, Revencu, Nicole, Ferreira, Carlos R., Macnamara, Ellen, Braakman, Hilde M.H., Brimble, Elise, Ruzhnikov, Maura R.Z., Wagner, Matias, Harrer, Philip, Wieczorek, Dagmar, Kuechler, Alma, Tziperman, Barak, Barel, Ortal, de Vries, Bert B.A., Gordon, Christopher T., Janssens, Veerle, Vissers, Lisenka E.L.M.

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De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders by Nabais Sá, Maria J., El Tekle, Geniver, de Brouwer, Arjan P.M., Sawyer, Sarah L., del Gaudio, Daniela, Parker, Michael J., Kanani, Farah, van den Boogaard, Marie-José H., van Gassen, Koen, Van Allen, Margot I., Wierenga, Klaas, Purcarin, Gabriela, Elias, Ellen Roy, Begtrup, Amber, Keller-Ramey, Jennifer, Bernasocchi, Tiziano, van de Wiel, Laurens, Gilissen, Christian, Venselaar, Hanka, Pfundt, Rolph, Vissers, Lisenka E.L.M., Theurillat, Jean-Philippe P., de Vries, Bert B.A.

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Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine by Goddard, Katrina A.B., Bernhardt, Barbara A., Biswas, Sawona, Bowling, Kevin M., Caga-anan, Charlisse F., Chinnaiyan, Arul M., Clayton, Ellen W., East, Kelly, Garraway, Levi A., Garrett, Jeremy R., Gray, Stacy W., Hindorff, Lucia A., Lewis, Michelle Huckaby, Hutter, Carolyn M., Janne, Pasi A., Knoppers, Bartha M., Krantz, Ian D., Manolio, Teri A., Nickerson, Deborah A., Ou, Jeffrey, Parsons, Donald W., Petersen, Gloria M., Plon, Sharon E., Rehm, Heidi L., Robinson, Dan, Salama, Joseph S., Scollon, Sarah, Shirts, Brian, Tabor, Holly K., Tarczy-Hornoch, Peter, Appelbaum, Paul S., Arora, Shubhangi, Brothers, Kyle B., Brown, Brian L., Caga-anan, Charlisse F., Calikoglu, Muge G., Christensen, Kurt D., Cirino, Allison L., Conlin, Laura K., Crosslin, David R., Davis, James V., Dorschner, Michael O., Dugan, Noreen P., Exe, Nicole, Fishler, Kristen, Ghrundmeier, Bob, Gordon, Adam S., Gray, David E., Gray, Stacy W., Gutierrez, Amanda M., Hensman, Naomi, Hiatt, Susan M., Himes, Patricia, Horike-Pyne, Martha J., Hull, Sara, Jensen, Brian C., Joffe, Steve, Kaufman, Dave, Kim, Jerry H., Klein, William, Lambert, Michele P., Leo, Michael C., Lewis, Katie, Lonigro, Bob, Machini, Kalotina, Manolio, Teri A., McCullough, Laurence, McMullen, Carmit, Mooney, Sean D., Moore, Elizabeth G., Muzny, Donna, Ng, David, Nickerson, Deborah A., Oliver, Nelly M., Parsons, Will, Plon, Sharon, Powell, Bradford C., Raesz-Martinez, Robin A., Raskind, Wendy H., Rehm, Heidi L., Reiss, Jacob A., Robertson, Peggy D., Robinson, Dan, Salama, Joseph, Scarano, Maria I., Sholl, Lynette M., Silverman, Elian, Simmons, Shirley, Spinner, Nancy B., Stoffel, Elena, Tilley, Christian R., Trinidad, Susan, Ubel, Peter, Vassy, Jason L., Vries, Raymond D., Weck, Karen, Wolf, Susan M., Wynn, Julia, Yu, Joon-Ho, Zikmund-Fisher, Brian J.

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Comparative genomics reveals high biological diversity and specific adaptations in the industrially and medically important fungal genus Aspergillus by de Vries, Ronald P, Riley, Robert, Wiebenga, Ad, Aguilar-Osorio, Guillermo, Amillis, Sotiris, Uchima, Cristiane Akemi, Asadollahi, Mojtaba, Askin, Marion, Barry, Kerrie, Battaglia, Evy, Bayram, Özgür, Benocci, Tiziano, Braus-Stromeyer, Susanna A, Caldana, Camila, Cánovas, David, Cerqueira, Gustavo C, Chen, Fusheng, Clum, Alicia, Dos Santos, Renato Augusto Corrêa, Damásio, André Ricardo de Lima, Diallinas, George, Emri, Tamás, Fekete, Erzsébet, Flipphi, Michel, Freyberg, Susanne, Habgood, Rob, Hainaut, Matthieu, Harispe, María Laura, Henrissat, Bernard, Hildén, Kristiina S, Hope, Ryan, Hossain, Abeer, Karabika, Eugenia, Karaffa, Levente, Karányi, Zsolt, Kraševec, Nada, Kuo, Alan, Kusch, Harald, LaButti, Kurt, Lagendijk, Ellen L, Lapidus, Alla, Levasseur, Anthony, Lindquist, Erika, Lipzen, Anna, MacCabe, Andrew, Melin, Petter, Meyer, Vera, Mielnichuk, Natalia, Miskei, Márton, Molnár, Ákos P, Mulé, Giuseppina, Ngan, Chew Yee, Orejas, Margarita, Orosz, Erzsébet, Ouedraogo, Jean Paul, Overkamp, Karin M, Park, Hee-Soo, Perrone, Giancarlo, Ram, Arthur F J, Ramón, Ana, Rauscher, Stefan, Record, Eric, Riaño-Pachón, Diego Mauricio, Röhrig, Julian, Ruller, Roberto, Salamov, Asaf, Salih, Nadhira S, Samson, Rob A, Sándor, Erzsébet, Sanguinetti, Manuel, Schütze, Tabea, Sepčić, Kristina, Shelest, Ekaterina, Sherlock, Gavin, Squina, Fabio M, Sun, Hui, Susca, Antonia, Todd, Richard B, Tsang, Adrian, Unkles, Shiela E, van de Wiele, Nathalie, van Rossen-Uffink, Diana, Oliveira, Juliana Velasco de Castro, Visser, Jaap, Yu, Jae-Hyuk, Zhou, Miaomiao, Archer, David B, Baker, Scott E, Benoit, Isabelle, Braus, Gerhard H, Fischer, Reinhard, Frisvad, Jens C, Goldman, Gustavo H, Houbraken, Jos, Oakley, Berl, Pócsi, István, Scazzocchio, Claudio, Seiboth, Bernhard, Wortman, Jennifer, Grigoriev, Igor V

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De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions by Fregeau, Brieana, Kim, Bum Jun, Hernández-García, Andrés, Jordan, Valerie K., Cho, Megan T., Schnur, Rhonda E., Monaghan, Kristin G., Juusola, Jane, Rosenfeld, Jill A., Bhoj, Elizabeth, Zackai, Elaine H., Sacharow, Stephanie, Barañano, Kristin, Bosch, Daniëlle G.M., de Vries, Bert B.A., Lindstrom, Kristin, Schroeder, Audrey, James, Philip, Kulch, Peggy, Lalani, Seema R., van Haelst, Mieke M., van Gassen, Koen L.I., van Binsbergen, Ellen, Barkovich, A. James, Scott, Daryl A., Sherr, Elliott H.

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De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders by Reynhout, Sara, Jansen, Sandra, Haesen, Dorien, van Belle, Siska, de Munnik, Sonja A., Bongers, Ernie M.H.F., Schieving, Jolanda H., Marcelis, Carlo, Amiel, Jeanne, Rio, Marlène, Mclaughlin, Heather, Ladda, Roger, Sell, Susan, Kriek, Marjolein, Peeters-Scholte, Cacha M.P.C.D., Terhal, Paulien A., van Gassen, Koen L., Verbeek, Nienke, Henry, Sonja, Schwoerer, Jessica Scott, Malik, Saleem, Revencu, Nicole, Ferreira, Carlos R., Macnamara, Ellen, Braakman, Hilde M.H., Brimble, Elise, Ruzhnikov, Maura R.Z., Wagner, Matias, Harrer, Philip, Wieczorek, Dagmar, Kuechler, Alma, Tziperman, Barak, Barel, Ortal, de Vries, Bert B.A., Gordon, Christopher T., Janssens, Veerle, Vissers, Lisenka E.L.M.

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Somatic embryogenesis in Arabidopsis thaliana is facilitated by mutations in genes repressing meristematic cell divisions by Mordhorst, A.P, Voermann, K.J, Hartog, M.V, Meijer, E.A, Went, J. van, Koornneef, M, Vries, S.C. de

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POU3F3‐related disorder: Defining the phenotype and expanding the molecular spectrum by Rossi, Alessandra, Blok, Lot Snijders, Neuser, Sonja, Klöckner, Chiara, Platzer, Konrad, Faivre, Laurence Olivier, Weigand, Heike, Dentici, Maria L., Tartaglia, Marco, Niceta, Marcello, Alfieri, Paolo, Srivastava, Siddharth, Coulter, David, Smith, Lacey, Vinorum, Kristin, Cappuccio, Gerarda, Brunetti‐Pierri, Nicola, Torun, Deniz, Arslan, Mutluay, Lauridsen, Mathilde F., Murch, Oliver, Irving, Rachel, Lynch, Sally A., Mehta, Sarju G., Carmichael, Jenny, Zonneveld‐Huijssoon, Evelien, Vries, Bert, Kleefstra, Tjitske, Johannesen, Katrine M., Westphall, Ian T., Hughes, Susan S., Smithson, Sarah, Evans, Julie, Dudding‐Byth, Tracy, Simon, Marleen, Binsbergen, Ellen, Herkert, Johanna C., Beunders, Gea, Oppermann, Henry, Bakal, Mert, Møller, Rikke S., Rubboli, Guido, Bayat, Allan

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Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine by Goddard, Katrina A.B., Jarvik, Gail P., Amendola, Laura M., Berg, Jonathan S., Blout, Carrie L., Brothers, Kyle B., Caga-anan, Charlisse F., Clayton, Ellen W., East, Kelly, Evans, James P., Fullerton, Stephanie M., Holm, Ingrid A., Kaufman, David, Knoppers, Bartha M., McCullough, Laurence, McGuire, Amy, Myers, Richard M., Nickerson, Deborah A., Robinson, Dan, Salama, Joseph S., Scollon, Sarah, Shirts, Brian, Tabor, Holly K., Tarczy-Hornoch, Peter, Veenstra, David L., Wagle, Nikhil, Wynn, Julia, Amendola, Laura, Aronson, Samuel J., Arora, Shubhangi, Azzariti, Danielle R., Biesecker, Barbara B., Byers, Peter H., Calikoglu, Muge G., Cirino, Allison L., Conlin, Laura K., Cooper, Greg M., Crosslin, David R., Davis, James V., Dugan, Noreen P., Exe, Nicole, Fan, Zheng, Filipski, Kelly, Fishler, Kristen, Ghrundmeier, Bob, Gilmore, Marian J., Gordon, Adam S., Gornick, Michele C., Grady, William M., Gutierrez, Amanda M., Hensman, Naomi, Himes, Patricia, Hisama, Fuki M., Hull, Sara, Joffe, Steve, Karavite, Dean, Kauffman, Tia L., Kaufman, Dave, Kim, Jerry H., Klein, William, Krantz, Ian, Le, Lan Q., Lebo, Matthew S., Leo, Michael C., Lewis, Katie, Lewis, Michelle, Lindeman, Neal I., Lonigro, Bob, Lose, Edward J., Lupo, Philip J., Machini, Kalotina, Marchuk, Daniel S., McMullen, Carmit, Miller, Victoria A., Moore, Elizabeth G., Ng, David, Oliver, Nelly M., Parsons, Will, Patrick, Donald L., Plon, Sharon, Powell, Bradford C., Breitkopf, Carmen Radecki, Raskind, Wendy H., Rini, Christine, Robertson, Peggy D., Salama, Joseph, Shirts, Brian H., Siddiqui, Javed, Silverman, Elian, Simmons, Shirley, Simons, Janae V., Stoffel, Elena, Tilley, Christian R., Tomlinson, Ashley, Trinidad, Susan, Ubel, Peter, Walsh, Rebecca C., Wilfond, Ben, Wilhelmsen, Kirk C., Young, Carol

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Complement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosis by Kerick, Martin, Acosta-Herrera, Marialbert, Simeón-Aznar, Carmen Pilar, Callejas, José Luis, Assassi, Shervin, Proudman, Susanna M, Nikpour, Mandana, Hunzelmann, Nicolas, Moroncini, Gianluca, de Vries-Bouwstra, Jeska K, Orozco, Gisela, Barton, Anne, Herrick, Ariane L, Terao, Chikashi, Allanore, Yannick, Fonseca, Carmen, Alarcón-Riquelme, Marta Eugenia, Radstake, Timothy R D J, Beretta, Lorenzo, Denton, Christopher P, Mayes, Maureen D, Martin, Javier

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A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology by Migliavacca, Eugenia, Golzio, Christelle, Männik, Katrin, Blumenthal, Ian, Oh, Edwin C, Harewood, Louise, Kosmicki, Jack A, Loviglio, Maria Nicla, Giannuzzi, Giuliana, Hippolyte, Loyse, Maillard, Anne M, Alfaiz, Ali Abdullah, van Haelst, Mieke M, Andrieux, Joris, Gusella, James F, Daly, Mark J, Beckmann, Jacques S, Jacquemont, Sébastien, Talkowski, Michael E, Katsanis, Nicholas, Reymond, Alexandre

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Hypersociability in the behavioral phenotype of 17q21.31 microdeletion syndrome by Egger, Jos I.M., Wingbermühle, Ellen, Verhoeven, Willem M.A., Dijkman, Marije, Radke, Sina, de Bruijn, Ellen R.A., de Vries, Bert, Kessels, Roy P.C., Koolen, David

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Molecular evolution of multiple recurrent cancers of the bladder by VAN TILBORG, Angela A. G, DE VRIES, Annie, DE BONT, Maarten, GROENFELD, Lilian E, VAN DER KWAST, Theo H, ZWARTHOFF, Ellen C

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Draft genome sequence of Francisella tularensis subsp. holarctica BD11-00177 by Coolen, Jordy P M, Sjödin, Andreas, Maraha, Boulos, Hajer, Gerard F, Forsman, Mats, Verspui, Ellen, Frenay, Hendrina M E, Notermans, Daan W, de Vries, Maaike C, Reubsaet, Frans A G, Paauw, Armand, Roeselers, Guus

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