Tibia hemimelia in a patient with CHARGE syndrome: A rare but recurrent phenomenon by Aukema, Sietse M., Geus, Christa M., Robben, Simon G. F., Kaam, Kim J. A. F., Staal, Heleen M., Witlox, Adhiambo M., Haye, Nicole A. J., Klaassens, Merel, Coumans, Audrey, Stegmann, Alexander P. A., Paley, Dror, Stumpel, Constance T. R. M.

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The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands by Zazo Seco, Celia, Wesdorp, Mieke, Feenstra, Ilse, Pfundt, Rolph, Hehir-Kwa, Jayne Y, Lelieveld, Stefan H, Castelein, Steven, Gilissen, Christian, de Wijs, Ilse J, Admiraal, Ronald Jc, Pennings, Ronald Je, Kunst, Henricus Pm, van de Kamp, Jiddeke M, Tamminga, Saskia, Houweling, Arjan C, Plomp, Astrid S, Maas, Saskia M, de Koning Gans, Pia Am, Kant, Sarina G, de Geus, Christa M, Frints, Suzanna Gm, Vanhoutte, Els K, van Dooren, Marieke F, van den Boogaard, Marie-José H, Scheffer, Hans, Nelen, Marcel, Kremer, Hannie, Hoefsloot, Lies, Schraders, Margit, Yntema, Helger G

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Guidelines in CHARGE syndrome and the missing link: Cranial imaging by de Geus, Christa M., Free, Rolien H., Verbist, Berit M., Sival, Deborah A., Blake, Kim D., Meiners, Linda C., van Ravenswaaij‐Arts, Conny M. A.

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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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The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8 by Dingemans, Alexander J. M., Truijen, Kim M. G., van de Ven, Sam, Bernier, Raphael, Bongers, Ernie M. H. F., Bouman, Arjan, de Graaff – Herder, Laura, Eichler, Evan E., Gerkes, Erica H., De Geus, Christa M., van Hagen, Johanna M., Jansen, Philip R., Kerkhof, Jennifer, Kievit, Anneke J. A., Kleefstra, Tjitske, Maas, Saskia M., de Man, Stella A., McConkey, Haley, Patterson, Wesley G., Dobson, Amy T., Prijoles, Eloise J., Sadikovic, Bekim, Relator, Raissa, Stevenson, Roger E., Stumpel, Connie T. R. M., Heijligers, Malou, Stuurman, Kyra E., Löhner, Katharina, Zeidler, Shimriet, Lee, Jennifer A., Lindy, Amanda, Zou, Fanggeng, Tedder, Matthew L., Vissers, Lisenka E. L. M., de Vries, Bert B. A.

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Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype by Wade, Emma M., Jenkins, Zandra A., Daniel, Philip B., Morgan, Tim, Addor, Marie C., Adés, Lesley C., Bertola, Debora, Bohring, Axel, Carter, Erin, Cho, Tae‐Joon, de Geus, Christa M., Duba, Hans‐Christoph, Fletcher, Elaine, Hadzsiev, Kinga, Hennekam, Raoul C. M., Kim, Chong A., Krakow, Deborah, Morava, Eva, Neuhann, Teresa, Sillence, David, Superti‐Furga, Andrea, Veenstra‐Knol, Hermine E., Wieczorek, Dagmar, Wilson, Louise C., Markie, David M., Robertson, Stephen P.

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Genome-wide association study (GWAS)-identified disease risk alleles do not compromise human longevity by Beekman, Marian, Nederstigt, Christa, Suchiman, H. Eka D., Kremer, Dennis, van der Breggen, Ruud, Lakenberg, Nico, Alemayehu, Wendimagegn Ghidey, de Craen, Anton J. M., Westendorp, Rudi G. J., Boomsma, Dorret I., de Geus, Eco J. C., Houwing-Duistermaat, Jeanine J., Heijmans, Bastiaan T., Slagboom, P. Eline, Cantor, Charles R.

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GRIN2A-related disorders: genotype and functional consequence predict phenotype by Strehlow, Vincent, Heyne, Henrike O, Vlaskamp, Danique R M, Marwick, Katie F M, Rudolf, Gabrielle, de Bellescize, Julitta, Biskup, Saskia, Brilstra, Eva H, Brouwer, Oebele F, Callenbach, Petra M C, Hentschel, Julia, Hirsch, Edouard, Kind, Peter C, Mignot, Cyril, Platzer, Konrad, Rump, Patrick, Skehel, Paul A, Wyllie, David J A, Hardingham, Giles E, van Ravenswaaij-Arts, Conny M A, Lesca, Gaetan, Lemke, Johannes R

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Data driven criteria for genetic testing result in an efficient selection of patients with genetic dementia in a clinical setting by Lee, Sven J, Hulsman, Marc, van Spaendonk, Rosalina M.L., Schaar, Jetske, Dijkstra, Janna I.R., van der Flier, Wiesje M., Elting, Mariet, Reinders, Marcel JT, Rojas, Itziar, Haelst, Mieke M., Geus, Christa, Pijnenburg, Yolande A.L., Holstege, Henne

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A genome-wide association search for type 2 diabetes genes in African Americans by Palmer, Nicholette D, Cooke, Jessica N, Bostrom, Meredith A, Ferrara, Assiamira, Ziegler, Julie T, Freedman, Barry I, Scott, Laura J, Morris, Andrew P, Thorleifsson, Gudmar, Ferreira, Teresa, Dupuis, Josée, Segrè, Ayellet V, van Hoek, Mandy, Bennett, Amanda J, Boström, Kristina Bengtsson, Couper, David J, Elliott, Katherine S, Elliott, Amanda L, Erdos, Michael R, Franklin, Christopher S, Ganser, Martha, Grarup, Niels, Guiducci, Candace, Kuusisto, Johanna, Lauritzen, Torsten, Lyssenko, Valeriya, Payne, Felicity, Prokopenko, Inga, Robertson, Neil R, Rocheleau, Ghislain, Roden, Michael, Saxena, Richa, Sigurdsson, Gunnar, Thorand, Barbara, Tichet, Jean, Weedon, Michael N, Hunter, David J, Hveem, Kristian, Pramstaller, Peter P, Sijbrands, Eric, Walker, Mark, Wareham, Nicholas J, Hattersley, Andrew T, Hu, Frank B, Pedersen, Oluf, Thorsteinsdottir, Unnur, Wilson, James F, van Duijn, Cornelia M, Altshuler, David, McCarthy, Mark I, Elliott, Paul, Dehghan, Abbas, Lajunen, Taina, Kanoni, Stavroula, Zabena, Carina, O'Connell, Jeffrey, Luan, Jian'an, Roccasecca, Rosa Maria, Bochud, Murielle, Clarke, Robert, Coin, Lachlan J M, Cooper, Matthew N, Crisponi, Laura, Frants, Rune, Galan, Pilar, Graessler, Jürgen, Grundy, Scott, Gwilliam, Rhian, Hartikainen, Anna-Liisa, Hercberg, Serge, Hicks, Andrew A, Hui, Jennie, Kovacs, Peter, Manning, Alisa K, McAteer, Jarred B, Melzer, David, Meyre, David, Naitza, Silvia, Orrù, Marco, Pattaro, Cristian, Peden, John F, Pichler, Irene, Psaty, Bruce M, Rayner, Nigel W, van Dijk, Ko Willems, Waeber, Gérard, Yarnell, John W G, Zethelius, Björn, Loos, Ruth J F, Smith, George Davey, Karpe, Fredrik, Serrano-Ríos, Manuel, Ebrahim, Shah, Pramstaller, Peter Paul, Wright, Alan F, Stumvoll, Michael, Hamsten, Anders, Buchanan, Thomas A, Peltonen, Leena, Mooser, Vincent

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Cerebellar Vermis and Midbrain Hypoplasia Upon Conditional Deletion of Chd7 from the Embryonic Mid-Hindbrain Region by Donovan, Alex P A, Yu, Tian, Ellegood, Jacob, Riegman, Kimberley L H, de Geus, Christa, van Ravenswaaij-Arts, Conny, Fernandes, Cathy, Lerch, Jason P, Basson, M Albert

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Maps of open chromatin highlight cell type-restricted patterns of regulatory sequence variation at hematological trait loci by Paul, Dirk S, Albers, Cornelis A, Rendon, Augusto, Voss, Katrin, Stephens, Jonathan, van der Harst, Pim, Chambers, John C, Soranzo, Nicole, Ouwehand, Willem H, Deloukas, Panos

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