Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate von Laumonnier, F, Holbert, S, Ronce, N, Faravelli, F, Lenzner, S, Schwartz, C E, Lespinasse, J, Van Esch, H, Lacombe, D, Goizet, C, Phan-Dinh Tuy, F, van Bokhoven, H, Fryns, J-P, Chelly, J, Ropers, H-H, Moraine, C, Hamel, B C J, Briault, S

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Mowat–Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature von Garavelli, L., Zollino, M., Mainardi, P. Cerruti, Gurrieri, F., Rivieri, F., Soli, F., Verri, R., Albertini, E., Favaron, E., Zignani, M., Orteschi, D., Bianchi, P., Faravelli, F., Forzano, F., Seri, M., Wischmeijer, A., Turchetti, D., Pompilii, E., Gnoli, M., Cocchi, G., Mazzanti, L., Bergamaschi, R., De Brasi, D., Sperandeo, M.P., Mari, F., Uliana, V., Mostardini, R., Cecconi, M., Grasso, M, Sassi, S., Sebastio, G., Renieri, A., Silengo, M., Bernasconi, S., Wakamatsu, N., Neri, G.

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Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene von Gentilin, B., Forzano, F., Bedeschi, M. F., Rizzuti, T., Faravelli, F., Izzi, C., Lituania, M., Rodriguez‐Perez, C., Bondioni, M. P., Savoldi, G., Grosso, E., Botta, G., Viora, E., Baffico, A. M., Lalatta, F.

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Severe fluoropyrimidine-related toxicity: clinical implications of DPYD analysis and UH2/U ratio evaluation von Giorgio, E., Caroti, C., Mattioli, F., Uliana, V., Parodi, M. I., D’Amico, Mauro, Fucile, C., Marini, V., Forzano, F., Cassola, G., Martelli, A., Faravelli, F., Di Maria, E.

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Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients von Pastorino, L., Cusano, R., Nasti, S., Faravelli, F., Forzano, F., Baldo, C., Barile, M., Gliori, S., Muggianu, M., Ghigliotti, G., Lacaita, M.G., Lo Muzio, L., Bianchi-Scarra, G.

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Chromosomal microarray as first‐tier approach in low‐risk pregnancies: detection rate should not be the only criterion for its application von Baroncini, A., Sinibaldi, L., Bernardini, L., Cavalli, P., Faravelli, F., Gentile, M., Lituania, M., Volpe, P., Camurri, L., Novelli, A., Dallapiccola, B.

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Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations von Rossi, Elena, Piccini, Flavia, Zollino, Marcella, Neri, Giovanni, Caselli, Desirée, Tenconi, Romano, Castellan, Claudio, Carrozzo, Romeo, Danesino, Cesare, Zuffardi, Orsetta, Ragusa, Angela, Castiglia, Lucia, Galesi, Ornella, Greco, Donatella, Romano, Corrado, Pierluigi, Mauro, Perfumo, Chiara, Di Rocco, Maia, Faravelli, Francesca, Bricarelli, Franca Dagna, Bonaglia, MariaClara, Bedeschi, MariaFrancesca, Borgatti, Renato

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Is Hardikar syndrome distinct from Kabuki (Niikawa-Kuroki) syndrome? von Ejarque, I, Uliana, V, Forzano, F, Marciano, C, Merla, G, Zelante, L, Di Maria, E, Faravelli, F

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Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome von Tatton-Brown, K, Douglas, J, Coleman, K, Baujat, G, Chandler, K, Clarke, A, Collins, A, Davies, S, Faravelli, F, Firth, H, Garrett, C, Hughes, H, Kerr, B, Liebelt, J, Reardon, W, Schaefer, G B, Splitt, M, Temple, I K, Waggoner, D, Weaver, D D, Wilson, L, Cole, T, Cormier-Daire, V, Irrthum, A, Rahman, N

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Crisponi syndrome: Report of a further patient von Accorsi, P., Giordano, L., Faravelli, F.

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Joubert syndrome with bilateral polymicrogyria: Clinical and neuropathological findings in two brothers von Giordano, L., Vignoli, A., Pinelli, L., Brancati, F., Accorsi, P., Faravelli, F., Gasparotti, R., Granata, T., Giaccone, G., Inverardi, F., Frassoni, C., Dallapiccola, B., Valente, E.M., Spreafico, R.

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Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability von Grozeva, Detelina, Carss, Keren, Spasic-Boskovic, Olivera, Tejada, Maria-Isabel, Gecz, Jozef, Shaw, Marie, Corbett, Mark, Haan, Eric, Thompson, Elizabeth, Friend, Kathryn, Hussain, Zaamin, Hackett, Anna, Field, Michael, Renieri, Alessandra, Stevenson, Roger, Schwartz, Charles, Floyd, James A.B., Bentham, Jamie, Cosgrove, Catherine, Keavney, Bernard, Bhattacharya, Shoumo, Hurles, Matthew, Raymond, F. Lucy

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A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and “patchy” expression in the mosaic father von Forzano, F., Lituania, M., Viassolo, A., Superti‐Furga, V., Wildhardt, G., Zabel, B., Faravelli, F.

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Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases von Verloes, Alain, Di Donato, Nataliya, Masliah-Planchon, Julien, Jongmans, Marjolijn, Abdul-Raman, Omar A, Albrecht, Beate, Allanson, Judith, Brunner, Han, Bertola, Debora, Chassaing, Nicolas, David, Albert, Devriendt, Koen, Eftekhari, Pirayeh, Drouin-Garraud, Valérie, Faravelli, Francesca, Faivre, Laurence, Giuliano, Fabienne, Guion Almeida, Leina, Juncos, Jorge, Kempers, Marlies, Eker, Hatice Koçak, Lacombe, Didier, Lin, Angela, Mancini, Grazia, Melis, Daniela, Lourenço, Charles Marques, Siu, Victoria Mok, Morin, Gilles, Nezarati, Marjan, Nowaczyk, Malgorzata J M, Ramer, Jeanette C, Osimani, Sara, Philip, Nicole, Pierpont, Mary Ella, Procaccio, Vincent, Roseli, Zeichi-Seide, Rossi, Massimiliano, Rusu, Cristina, Sznajer, Yves, Templin, Ludivine, Uliana, Vera, Klaus, Mirjam, Van Bon, Bregje, Van Ravenswaaij, Conny, Wainer, Bruce, Fry, Andrew E, Rump, Andreas, Hoischen, Alexander, Drunat, Séverine, Rivière, Jean-Baptiste, Dobyns, William B, Pilz, Daniela T

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Prenatal diagnosis of Gollop-Wolfgang Complex von Forzano, Francesca, Viassolo, V., Castagnetta, M., Cavani, S., Battistuzzi, L., Garbati, E., Emiliozzi, M.C., Cecchi, A., Faravelli, F., Lituania, M.

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Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations von Tatton-Brown, Katrina, Douglas, Jenny, Coleman, Kim, Baujat, Geneviève, Cole, Trevor R.P., Das, Soma, Horn, Denise, Hughes, Helen E., Temple, I. Karen, Faravelli, Francesca, Waggoner, Darrel, Türkmen, Seval, Cormier-Daire, Valérie, Irrthum, Alexandre, Rahman, Nazneen

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Mapping the Wolf-Hirschhorn Syndrome Phenotype Outside the Currently Accepted WHS Critical Region and Defining a New Critical Region, WHSCR-2 von Zollino, Marcella, Lecce, Rosetta, Fischetto, Rita, Murdolo, Marina, Faravelli, Francesca, Selicorni, Angelo, Buttè, Cinzia, Memo, Luigi, Capovilla, Giuseppe, Neri, Giovanni

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Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype von Tatton-Brown, Katrina, Murray, Anne, Hanks, Sandra, Douglas, Jenny, Armstrong, Ruth, Banka, Siddharth, Bird, Lynne M., Clericuzio, Carol L., Cormier-Daire, Valerie, Cushing, Tom, Flinter, Frances, Jacquemont, Marie-Line, Joss, Shelagh, Kinning, Esther, Lynch, Sally Ann, Magee, Alex, McConnell, Vivienne, Medeira, Ana, Ozono, Keiichi, Patton, Michael, Rankin, Julia, Shears, Debbie, Simon, Marleen, Splitt, Miranda, Strenger, Volker, Stuurman, Kyra, Taylor, Clare, Titheradge, Hannah, Van Maldergem, Lionel, Temple, I. Karen, Cole, Trevor, Seal, Sheila, Rahman, Nazneen

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Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX): report of the first prenatal mutation testing von Perroni, L., Faravelli, F., Cusano, R., Forzano, F., De Cassan, P., Baldo, C., Bricarelli, F. Dagna

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794 Postzygotic dominant-negative mutations of RHOA cause a mosaic neuroectodermal syndrome von Vabres, P., Sorlin, A., Kholmanskikh, S., Duffourd, Y., Kuentz, P., Carmignac, V., Bessis, D., Dobyns, W., Polubothu, S., Faravelli, F., Kinsler, V., Faivre, L., Ross, M., Rivière, J.

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