A nonsense mutation in CEP55 defines a new locus for a Meckel‐like syndrome, an autosomal recessive lethal fetal ciliopathy von Bondeson, M.‐L., Ericson, K., Gudmundsson, S., Ameur, A., Pontén, F., Wesström, J., Frykholm, C., Wilbe, M.

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Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders von Nyström, A-M, Ekvall, S, Berglund, E, Björkqvist, M, Braathen, G, Duchen, K, Enell, H, Holmberg, E, Holmlund, U, Olsson-Engman, M, Annerén, G, Bondeson, M-L

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A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features von Molin, A-M, Andrieux, J, Koolen, D A, Malan, V, Carella, M, Colleaux, L, Cormier-Daire, V, David, A, de Leeuw, N, Delobel, B, Duban-Bedu, B, Fischetto, R, Flinter, F, Kjaergaard, S, Kok, F, Krepischi, A C, Le Caignec, C, Ogilvie, C Mackie, Maia, S, Mathieu-Dramard, M, Munnich, A, Palumbo, O, Papadia, F, Pfundt, R, Reardon, W, Receveur, A, Rio, M, Ronsbro Darling, L, Rosenberg, C, Sá, J, Vallee, L, Vincent-Delorme, C, Zelante, L, Bondeson, M-L, Annerén, G

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Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis von Flex, Elisabetta, Jaiswal, Mamta, Pantaleoni, Francesca, Martinelli, Simone, Strullu, Marion, Fansa, Eyad K, Caye, Aurélie, De Luca, Alessandro, Lepri, Francesca, Dvorsky, Radovan, Pannone, Luca, Paolacci, Stefano, Zhang, Si-Cai, Fodale, Valentina, Bocchinfuso, Gianfranco, Rossi, Cesare, Burkitt-Wright, Emma M M, Farrotti, Andrea, Stellacci, Emilia, Cecchetti, Serena, Ferese, Rosangela, Bottero, Lisabianca, Castro, Silvana, Fenneteau, Odile, Brethon, Benoît, Sanchez, Massimo, Roberts, Amy E, Yntema, Helger G, Van Der Burgt, Ineke, Cianci, Paola, Bondeson, Marie-Louise, Cristina Digilio, Maria, Zampino, Giuseppe, Kerr, Bronwyn, Aoki, Yoko, Loh, Mignon L, Palleschi, Antonio, Di Schiavi, Elia, Carè, Alessandra, Selicorni, Angelo, Dallapiccola, Bruno, Cirstea, Ion C, Stella, Lorenzo, Zenker, Martin, Gelb, Bruce D, Cavé, Hélène, Ahmadian, Mohammad R, Tartaglia, Marco

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Candidate Gene Association Study for Noise‐induced Hearing Loss in Two Independent Noise‐exposed Populations von Konings, A., Van Laer, L., Wiktorek‐Smagur, A., Rajkowska, E., Pawelczyk, M., Carlsson, P. I., Bondeson, M. L., Dudarewicz, A., Vandevelde, A., Fransen, E., Huyghe, J., Borg, E., Sliwinska‐Kowalska, M., Van Camp, G.

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Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1 von Nyström, AM, Ekvall, S, Allanson, J, Edeby, C, Elinder, M, Holmström, G, Bondeson, ML, Annerén, G

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Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancer von Baliakas, Panagiotis, Munters, Arielle R, Kämpe, Anders, Tesi, Bianca, Bondeson, Marie-Louise, Ladenvall, Claes, Eriksson, Daniel

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Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions von Johansson, Josefin, Lidéus, Sarah, Frykholm, Carina, Gunnarsson, Cecilia, Mihalic, Filip, Gudmundsson, Sanna, Ekvall, Sara, Molin, Anna-Maja, Pham, Mai, Vihinen, Mauno, Lagerstedt-Robinson, Kristina, Nordgren, Ann, Jemth, Per, Ameur, Adam, Annerén, Göran, Wilbe, Maria, Bondeson, Marie-Louise

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Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation von Thuresson, A.-C., Bondeson, M.-L., Edeby, C., Ellis, P., Langford, C., Dumanski, J.P., Annerén, G.

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A novel approach using long‐read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders von Wilbe, Maria, Gudmundsson, Sanna, Johansson, Josefin, Ameur, Adam, Stattin, Eva‐Lena, Annerén, Göran, Malmgren, Helena, Frykholm, Carina, Bondeson, Marie‐Louise

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A Novel Nonsense Mutation of the Mineralocorticoid Receptor Gene in a Swedish Family with Pseudohypoaldosteronism Type I (PHA1) von Nyström, A.-M., Bondeson, M.-L., Skanke, N., Mårtensson, J., Strömberg, B., Gustafsson, J., Annerén, G.

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Michelangelo's divine goitre von Bondeson, L., Bondeson, A.-G.

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Inversion of the IDS gene resulting from recombination with IDS-related sequences in a common cause of the Hunter syndrome von Bondeson, Maire-Louise, Dahl, Niklas, Malmgren, Helena, Kleijer, Wim J., Tönnesen, Tönne, Carlberg, Britt-Marie, Pettersson, Ulf

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Histopathological variables and DNA cytometry in parathyroid carcinoma von BONDESON, L, SANDELIN, K, GRIMELIUS, L

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Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype von Ekvall, Sara, Hagenäs, Lars, Allanson, Judith, Annerén, Göran, Bondeson, Marie-Louise

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Analysis of a 43.6 kb deletion in a patient with Hunter syndrome (MPSII): Identification of a fusion transcript including sequences from the gene W and the IDS gene von Lagerstedt, K., Carlberg, B.-M., Karimi-Nejad, R., Kleijer, W.J., Bondeson, M.-L.

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Molecular and phenotypic variation in patients with severe Hunter syndrome von TIMMS, K. M, BONDESON, M.-L, ALL ANSARI-LARI, M, LAGERSTEDT, K, MUZNY, D. M, DUGAN-ROCHA, S. P, NELSON, D. L, PETTERSSON, U, GIBBS, R. A

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Chimerism resulting from parthenogenetic activation and dispermic fertilization von Winberg, Johanna, Gustavsson, Peter, Lagerstedt-Robinson, Kristina, Blennow, Elisabeth, Lundin, Johanna, Iwarsson, Erik, Nordenström, Anna, Anderlid, Britt-Marie, Bondeson, Marie-Louise, Nordenskjöld, Agneta, Nordgren, Ann

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Double-Strand Breaks May Initiate the Inversion Mutation Causing the Hunter Syndrome von Lagerstedt, Kristina, Karsten, Stanislav L., Carlberg, Britt-Marie, Kleijer, Wim J., Tönnesen, Tönne, Pettersson, Ulf, Bondeson, Marie-Louise

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A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report von Körberg, Izabella, Nowinski, Daniel, Bondeson, Marie-Louise, Melin, Malin, Kölby, Lars, Stattin, Eva-Lena

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