Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants von Brunelli, Luca, Jenkins, Sabrina M., Gudgeon, James M., Bleyl, Steven B., Miller, Christine E., Tvrdik, Tatiana, Dames, Shale A., Ostrander, Betsy, Daboub, Josue A. F., Zielinski, Brandon A., Zinkhan, Erin K., Underhill, Hunter R., Wilson, Theodore, Bonkowsky, Joshua L., Yost, Christian C., Botto, Lorenzo D., Jenkins, Justin, Pysher, Theodore J., Bayrak‐Toydemir, Pinar, Mao, Rong

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WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome von White, Janson J., Mazzeu, Juliana F., Coban-Akdemir, Zeynep, Bayram, Yavuz, Bahrambeigi, Vahid, Hoischen, Alexander, van Bon, Bregje W.M., Gezdirici, Alper, Gulec, Elif Yilmaz, Ramond, Francis, Touraine, Renaud, Thevenon, Julien, Shinawi, Marwan, Beaver, Erin, Heeley, Jennifer, Hoover-Fong, Julie, Durmaz, Ceren D., Karabulut, Halil Gurhan, Marzioglu-Ozdemir, Ebru, Cayir, Atilla, Duz, Mehmet B., Seven, Mehmet, Price, Susan, Ferreira, Barbara Merfort, Vianna-Morgante, Angela M., Ellard, Sian, Parrish, Andrew, Stals, Karen, Flores-Daboub, Josue, Jhangiani, Shalini N., Gibbs, Richard A., Brunner, Han G., Sutton, V. Reid, Lupski, James R., Carvalho, Claudia M.B.

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Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles von Haghshenas, Sadegheh, Bout, Hidde J., Schijns, Josephine M., Kerkhof, Jennifer, Bhai, Pratibha, McConkey, Haley, Williams, Ella M., Halliday, Benjamin J., Huisman, Sylvia A., Lauffer, Peter, de Waard, Vivian, Witteveen, Laura, Hurst, Anna C.E., Kaiser, Frank J., Martinez-Monseny, Antonio F., Fergelot, Patricia, Monteiro, Fabíola P., Parenti, Ilaria, Persani, Luca, Simpson, Brittany N., Angius, Andrea, Bedoukian, Emma, Bhambhani, Vikas, Bodamer, Olaf, O’Brien, Alan, Crisponi, Laura, Cueto González, Anna María, the DDD study, Devriendt, Koenraad, van Eerde, Albertien, van den Elzen, Annette P.M., Faivre, Laurence, Fisher, Laura, Flores-Daboub, Josue A., Foster, Alison, Friedman, Jennifer, Gabau, Elisabeth, Galazzi, Elena, García-Miñaúr, Sixto, Garavelli, Livia, Gardeitchik, Thatjana, Gerkes, Erica H., van Gils, Julien, Garcia, Aixa Gonzalez, Heimdal, Ketil Riddervold, Houge, Gunnar, Hufnagel, Sophia B., Ilencikova, Denisa, Julia, Sophie, Kant, Sarina G., Klee, Eric W., Kovačević, Maja, Lachmeijer, A.M.A. (Guus), Lanpher, Brendan, Lebrun, Marine, Leon, Eyby, Lichty, Angie Ward, Lin, Ruth, Llano-Rivas, Isabel, Lynch, Sally Ann, Maas, Saskia M., Maitz, Silvia B., McKee, Shane, Melis, Daniela, Merati, Elisabetta, Merla, Giuseppe, Newbury-Ecob, Ruth, Park, Soo-Mi, Patterson, Jennifer, Peeters, Hilde, Persico, Ivana, Pes, Valentina, Pollazzon, Marzia, Potjer, Thomas, Potocki, Lorraine, Pottinger, Carrie, Prasad, Chitra, Prijoles, Eloise J., Ragge, Nicola K., Rea, Gillian, Ruivenkamp, Claudia, Rutz, Audrey, Russo, Rossana Sanchez, Santen, Gijs W.E., Schaefer, Elise, Shashi, Vandana, Sluga, Andrea, Sotgiu, Stefano, Steichen-Gersdorf, Elisabeth, Sullivan, Jennifer A., Sun, Yu, Suri, Mohnish, Tedder, Matt, Terhal, Paulien, Tully, Ian, White, Susan M., Xiao, Bing, Robertson, Stephen P., Sadikovic, Bekim, Menke, Leonie A.

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