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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Recurrent triploid and dispermic conceptions in patients with NLRP7 mutations von Slim, R, Ao, A, Surti, U, Zhang, L, Hoffner, L, Arseneau, J, Cheung, A, Chebaro, W, Wischmeijer, A

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Mandibuloacral dysplasia type A in childhood von Garavelli, L., D'Apice, M.R., Rivieri, F., Bertoli, M., Wischmeijer, A., Gelmini, C., De Nigris, V., Albertini, E., Rosato, S., Virdis, R., Bacchini, E., Dal Zotto, R., Banchini, G., Iughetti, L., Bernasconi, S., Superti‐Furga, A., Novelli, G.

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22q11.2 Distal Deletion Syndrome: Description of a New Case with Truncus Arteriosus Type 2 and Review von Garavelli, L., Rosato, S., Wischmeijer, A., Gelmini, C., Esposito, A., Mazzanti, L., Franchi, F., De Crescenzo, A., Palumbo, O., Carella, M., Riccio, A.

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Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype von Wischmeijer, A., Magini, P., Giorda, R., Gnoli, M., Ciccone, R., Cecconi, I., Franzoni, E., Mazzanti, L., Romeo, G., Zuffardi, O., Seri, M.

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Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations von Ritelli, Marco, Dordoni, Chiara, Venturini, Marina, Chiarelli, Nicola, Quinzani, Stefano, Traversa, Michele, Zoppi, Nicoletta, Vascellaro, Annalisa, Wischmeijer, Anita, Manfredini, Emanuela, Garavelli, Livia, Calzavara-Pinton, Piergiacomo, Colombi, Marina

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EEC- and ADULT-Associated TP63 Mutations Exhibit Functional Heterogeneity Toward P63 Responsive Sequences von Monti, Paola, Russo, Debora, Bocciardi, Renata, Foggetti, Giorgia, Menichini, Paola, Divizia, Maria T., Lerone, Margherita, Graziano, Claudio, Wischmeijer, Anita, Viadiu, Hector, Ravazzolo, Roberto, Inga, Alberto, Fronza, Gilberto

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De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction von Zampatii, S, Castori, M, Fischer, B, Ferrari, P, Garavelli, L, Dionisi-Vici, C, Agolini, E, Wischmeijer, A, Morava, Eva, Novelli, G, Häberle, J, Kornak, U, Brancanti, F

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NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation von Deveault, Catherine, Qian, Jian Hua, Chebaro, Wafaa, Ao, Asangla, Gilbert, Lucy, Mehio, Amira, Khan, Rabia, Tan, Seang Lin, Wischmeijer, Anita, Coullin, Philippe, Xie, Xing, Slim, Rima

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Supplementary Material for: Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype von Wischmeijer, A., Magini, P., Giorda, R., Gnoli, M., Ciccone, R., Cecconi, I., Franzoni, E., Mazzanti, L., Romeo, G., Zuffardi, O.

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Mandibuloacral dysplasia type A in childhood von Garavelli, L., D'Apice, M.R., Rivieri, F., Bertoli, M., Wischmeijer, A., Gelmini, C., De Nigris, V., Albertini, E., Rosato, S., Virdis, R., Bacchini, E., Dal Zotto, R., Banchini, G., Iughetti, L., Bernasconi, S., Superti-Furga, A., Novelli, G.

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Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) syndrome in humans and mice

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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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Olfactory bulb anomalies in KBG syndrome mouse model and patients von Goodkey, Kara, Wischmeijer, Anita, Perrin, Laurence, Watson, Adrianne E S, Qureshi, Leenah, Cordelli, Duccio Maria, Toni, Francesco, Gnazzo, Maria, Benedicenti, Francesco, Elmaleh-Bergès, Monique, Low, Karen J, Voronova, Anastassia

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Correction: Olfactory bulb anomalies in KBG syndrome mouse model and patients von Goodkey, Kara, Wischmeijer, Anita, Perrin, Laurence, Watson, Adrianne E S, Qureshi, Leenah, Cordelli, Duccio Maria, Toni, Francesco, Gnazzo, Maria, Benedicenti, Francesco, Elmaleh-Berges, Monique, Low, Karen J, Voronova, Anastassia

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Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Cha... von Mantovani, Vilma, Bin, Sofia, Graziano, Claudio, Capelli, Irene, Minardi, Raffaella, Aiello, Valeria, Ambrosini, Enrico, Cristalli, Carlotta Pia, Mattiaccio, Alessandro, Pariali, Milena, De Fanti, Sara, Faletra, Flavio, Grosso, Enrico, Cantone, Rachele, Mancini, Elena, Mencarelli, Francesca, Pasini, Andrea, Wischmeijer, Anita, Sciascia, Nicola, Seri, Marco, La Manna, Gaetano

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“Spot diagnosis” or “spot the diagnosis”? von Benedicenti, Francesco, Stanzial, Franco, Wischmeijer, Anita, Inzana, Francesca

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Syndromic intellectual disability: A new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant von Graziano, Claudio, Wischmeijer, Anita, Pippucci, Tommaso, Fusco, Carlo, Diquigiovanni, Chiara, Nõukas, Margit, Sauk, Martin, Kurg, Ants, Rivieri, Francesca, Blau, Nenad, Hoffmann, Georg F., Chaubey, Alka, Schwartz, Charles E., Romeo, Giovanni, Bonora, Elena, Garavelli, Livia, Seri, Marco

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Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice von Rainger, Joe, van Beusekom, Ellen, Ramsay, Jacqueline K, McKie, Lisa, Al-Gazali, Lihadh, Pallotta, Rosanna, Saponari, Anita, Branney, Peter, Fisher, Malcolm, Morrison, Harris, Bicknell, Louise, Gautier, Philippe, Perry, Paul, Sokhi, Kishan, Sexton, David, Bardakjian, Tanya M, Schneider, Adele S, Elcioglu, Nursel, Ozkinay, Ferda, Koenig, Rainer, Mégarbané, Andre, Semerci, C Nur, Khan, Ayesha, Zafar, Saemah, Hennekam, Raoul, Sousa, Sérgio B, Ramos, Lina, Garavelli, Livia, Furga, Andrea Superti, Wischmeijer, Anita, Jackson, Ian J, Gillessen-Kaesbach, Gabriele, Brunner, Han G, Wieczorek, Dagmar, van Bokhoven, Hans, Fitzpatrick, David R

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A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism von Diquigiovanni, Chiara, Bergamini, Christian, Diaz, Rebeca, Liparulo, Irene, Bianco, Francesca, Masin, Luca, Baldassarro, Vito Antonio, Rizzardi, Nicola, Tranchina, Antonia, Buscherini, Francesco, Wischmeijer, Anita, Pippucci, Tommaso, Scarano, Emanuela, Cordelli, Duccio Maria, Fato, Romana, Seri, Marco, Paracchini, Silvia, Bonora, Elena

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