Splicing in action: assessing disease causing sequence changes by Baralle, D, Baralle, M

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A prospective study of neurofibromatosis type 1 cancer incidence in the UK by Walker, L, Thompson, D, Easton, D, Ponder, B, Ponder, M, Frayling, I, Baralle, D

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Alternative splicing: good and bad effects of translationally silent substitutions by Raponi, M, Baralle, D

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An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phe... by Upadhyaya, M., Huson, S.M., Davies, M., Thomas, N., Chuzhanova, N., Giovannini, S., Evans, D.G., Howard, E., Kerr, B., Griffiths, S., Consoli, C., Side, L., Adams, D., Pierpont, M., Hachen, R., Barnicoat, A., Li, H., Wallace, P., Van Biervliet, J.P., Stevenson, D., Viskochil, D., Baralle, D., Haan, E., Riccardi, V., Turnpenny, P., Lazaro, C., Messiaen, L.

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Human NDE1 splicing and mammalian brain development by Mosca, S., Raponi, M., Meneghello, A., Buratti, E., Woods, C. G., Baralle, D.

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Identification of a mutation that perturbs NF1 gene splicing using genomic DNA samples and a minigene assay by Baralle, M, Baralle, D, Conti, L. De, Mattocks, C, Whittaker, J, Knezevich, A, Ffrench-Constant, C, Baralle, F.E

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Functional splicing assay shows a pathogenic intronic mutation in neurofibromatosis type 1 (NF1) due to intronic sequence exonization by Raponi, M., Upadhyaya, M., Baralle, D.

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Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities by Robinson, DO, Lin, F, Lyon, M, Raponi, M, Cross, E, White, HE, Cox, H, Clayton-Smith, J, Baralle, D

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Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11–17 distinct from the GAP related domain by Mattocks, C, Baralle, D, Tarpey, P, ffrench-Constant, C, Bobrow, M, Whittaker, J

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Large-scale discovery of novel genetic causes of developmental disorders by van Kogelenberg, M, Goudie, D, Gray, E, Harrison, L, Hawkins, R, Henderson, A, Holder, S, Irving, M, Bayzetinova, T, Jones, D, Kini, U, Kinning, E, Kirby, G, Kirk, C, Kumar, D, Lachlan, K, Lees, M, Lim, D, Coomber, E L, Lowther, G, Lynch, S A, Maher, E, Mansour, S, Maye, U, McCann, E, McMullan, D J, McNerlan, S, Metcalfe, K, Mohammed, S, Jones, P, Moore, D, Morton, J, Mugalaasi, H, Newbury-Ecob, R, Ogilvie, C, Park, S, Parker, M J, Patel, C, Porteous, D, Mason, L E, Ragge, N, Rankin, J, Raymond, L, Rosser, E, Miller, R, Sarkar, A, Scott, C, Scott, R, Selby, A, Shannon, N, Simpkin, D, Singzon, R, Skitt, Z, Rajan, D, Splitt, M, Stewart, F, Swaminathan, G J, Tatton-Brown, K, Temple, I K, Torokwa, A, Turner, C, Turnpenny, P, Tysoe, C, Vandersteen, A, Walker, D, Ahmed, M, Widaa, S, Williams, N, Wragg, C, Yau, M, FitzPatrick, D R, Anjum, U, Balasubramanian, M, Banerjee, R, Baralle, D, Baty, D, Bennett, C, Berg, J, Bevan, A P, Bourdon, L, Brady, A, Burton, J, Chandler, K, Cooper, N, Cross, G, D'Alessandro, M, Dabir, T, Davidson, R, Davies, S, Dean, J, Deshpande, C, Donnelly, C, Douglas, A, Eason, J, Edkins, S, Foulds, N, Fryer, A, Gardiner, C, Pereira, S L Gomes, Goodship, J

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A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies by Nixon, Kevin C.J., Rousseau, Justine, Stone, Max H., Sarikahya, Mohammed, Ehresmann, Sophie, Mizuno, Seiji, Matsumoto, Naomichi, Miyake, Noriko, Baralle, Diana, McKee, Shane, Izumi, Kosuke, Ritter, Alyssa L., Heide, Solveig, Héron, Delphine, Depienne, Christel, Titheradge, Hannah, Kramer, Jamie M., Campeau, Philippe M.

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Unraveling GRIA1 neurodevelopmental disorders: Lessons learned from the p.(Ala636Thr) variant by Tvergaard, Nicolai Kohring, Tkemaladze, Tinatin, Stödberg, Tommy, Kvarnung, Malin, Tatton‐Brown, Katrina, Baralle, Diana, Tümer, Zeynep, Bayat, Allan

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An intronic mutation in MLH1 associated with familial colon and breast cancer by Bianchi, F., Raponi, M., Piva, F., Viel, A., Bearzi, I., Galizia, E., Bracci, R., Belvederesi, L., Loretelli, C., Brugiati, C., Corradini, F., Baralle, D., Cellerino, R.

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Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classi... by de la Hoya, Miguel, Soukarieh, Omar, López-Perolio, Irene, Vega, Ana, Walker, Logan C, van Ierland, Yvette, Baralle, Diana, Santamariña, Marta, Lattimore, Vanessa, Wijnen, Juul, Whiley, Philip, Blanco, Ana, Raponi, Michela, Hauke, Jan, Wappenschmidt, Barbara, Becker, Alexandra, Hansen, Thomas V O, Behar, Raquel, Investigators, KConFaB, Niederacher, Diether, Arnold, Norbert, Dworniczak, Bernd, Steinemann, Doris, Faust, Ulrike, Rubinstein, Wendy, Hulick, Peter J, Houdayer, Claude, Caputo, Sandrine M, Castera, Laurent, Pesaran, Tina, Chao, Elizabeth, Brewer, Carole, Southey, Melissa C, van Asperen, Christi J, Singer, Christian F, Sullivan, Jan, Poplawski, Nicola, Mai, Phuong, Peto, Julian, Johnson, Nichola, Burwinkel, Barbara, Surowy, Harald, Bojesen, Stig E, Flyger, Henrik, Lindblom, Annika, Margolin, Sara, Chang-Claude, Jenny, Rudolph, Anja, Radice, Paolo, Galastri, Laura, Olson, Janet E, Hallberg, Emily, Giles, Graham G, Milne, Roger L, Andrulis, Irene L, Glendon, Gord, Hall, Per, Czene, Kamila, Blows, Fiona, Shah, Mitul, Wang, Qin, Dennis, Joe, Michailidou, Kyriaki, McGuffog, Lesley, Bolla, Manjeet K, Antoniou, Antonis C, Easton, Douglas F, Couch, Fergus J, Tavtigian, Sean, Vreeswijk, Maaike P, Parsons, Michael, Meeks, Huong D, Martins, Alexandra, Goldgar, David E, Spurdle, Amanda B

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Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature by Gazdagh, Gabriella, Hunt, David, Gonzalez, Anna Maria Cueto, Rodriguez, Monserrat Pons, Chaudhry, Ayeshah, Madruga, Marcos, Vansenne, Fleur, Shears, Deborah, Curie, Aurore, Stattin, Eva‐Lena, Anderlid, Britt‐Marie, Trajkova, Slavica, Angelovska, Elena Sukarova, McWilliam, Catherine, Wyatt, Philip R., O'Driscoll, Mary, Atton, Giles, Bergman, Anke K., Zacher, Pia, Mewasingh, Leena D., López, Antonio Gonzalez‐Meneses, Alonso‐Luengo, Olga, Wai, Htoo A., Rohde, Ottilie, Boiroux, Pauline, Debant, Anne, Schmidt, Susanne, Baralle, Diana

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Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome by Tessadori, Federico, Duran, Karen, Knapp, Karen, Fellner, Matthias, Smithson, Sarah, Beleza Meireles, Ana, Elting, Mariet W., Waisfisz, Quinten, O’Donnell-Luria, Anne, Nowak, Catherine, Douglas, Jessica, Ronan, Anne, Brunet, Theresa, Kotzaeridou, Urania, Svihovec, Shayna, Saenz, Margarita S., Thiffault, Isabelle, Del Viso, Florencia, Devine, Patrick, Rego, Shannon, Tenney, Jessica, van Haeringen, Arie, Ruivenkamp, Claudia A.L., Koene, Saskia, Robertson, Stephen P., Deshpande, Charulata, Pfundt, Rolph, Verbeek, Nienke, van de Kamp, Jiddeke M., Weiss, Janneke M.M., Ruiz, Anna, Gabau, Elisabeth, Banne, Ehud, Pepler, Alexander, Bottani, Armand, Laurent, Sacha, Guipponi, Michel, Bijlsma, Emilia, Bruel, Ange-Line, Sorlin, Arthur, Willis, Mary, Powis, Zoe, Smol, Thomas, Vincent-Delorme, Catherine, Baralle, Diana, Colin, Estelle, Revencu, Nicole, Calpena, Eduardo, Wilkie, Andrew O.M., Chopra, Maya, Cormier-Daire, Valerie, Keren, Boris, Afenjar, Alexandra, Niceta, Marcello, Terracciano, Alessandra, Specchio, Nicola, Tartaglia, Marco, Rio, Marlene, Barcia, Giulia, Rondeau, Sophie, Colson, Cindy, Bakkers, Jeroen, Mace, Peter D., Bicknell, Louise S., van Haaften, Gijs

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Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth by Loveday, Chey, Tatton-Brown, Katrina, Clarke, Matthew, Westwood, Isaac, Renwick, Anthony, Ramsay, Emma, Nemeth, Andrea, Campbell, Jennifer, Joss, Shelagh, Gardner, McKinlay, Zachariou, Anna, Elliott, Anna, Ruark, Elise, van Montfort, Rob, Rahman, Nazneen

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Novel Tandem Duplication in Exon 1 of the SNURF/SNRPN Gene in a Child with Transient Excessive Eating Behaviour and Weight Gain by Naik, S., Thomas, N.S., Davies, J.H., Lever, M., Raponi, M., Baralle, D., Temple, I.K., Caliebe, A.

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hnRNP H binding at the 5′ splice site correlates with the pathological effect of two intronic mutations in the NF-1 and TSHβ genes by Buratti, Emanuele, Baralle, Marco, De Conti, Laura, Baralle, Diana, Romano, Maurizio, Ayala, Youhna M., Baralle, Francisco E.

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Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype by 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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