Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling von Rice, Gillian I, del Toro Duany, Yoandris, Jenkinson, Emma M, Forte, Gabriella M A, Anderson, Beverley H, Ariaudo, Giada, Bader-Meunier, Brigitte, Baildam, Eileen M, Battini, Roberta, Beresford, Michael W, Casarano, Manuela, Chouchane, Mondher, Cimaz, Rolando, Collins, Abigail E, Cordeiro, Nuno J V, Dale, Russell C, Davidson, Joyce E, De Waele, Liesbeth, Desguerre, Isabelle, Faivre, Laurence, Fazzi, Elisa, Isidor, Bertrand, Lagae, Lieven, Latchman, Andrew R, Lebon, Pierre, Li, Chumei, Livingston, John H, Lourenço, Charles M, Mancardi, Maria Margherita, Masurel-Paulet, Alice, McInnes, Iain B, Menezes, Manoj P, Mignot, Cyril, O'Sullivan, James, Orcesi, Simona, Picco, Paolo P, Riva, Enrica, Robinson, Robert A, Rodriguez, Diana, Salvatici, Elisabetta, Scott, Christiaan, Szybowska, Marta, Tolmie, John L, Vanderver, Adeline, Vanhulle, Catherine, Vieira, Jose Pedro, Webb, Kate, Whitney, Robyn N, Williams, Simon G, Wolfe, Lynne A, Zuberi, Sameer M, Hur, Sun, Crow, Yanick J

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B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability von Houge, Gunnar, Haesen, Dorien, Vissers, Lisenka E L M, Mehta, Sarju, Parker, Michael J, Wright, Michael, Vogt, Julie, McKee, Shane, Tolmie, John L, Cordeiro, Nuno, Kleefstra, Tjitske, Willemsen, Marjolein H, Reijnders, Margot R F, Berland, Siren, Hayman, Eli, Lahat, Eli, Brilstra, Eva H, van Gassen, Koen L I, Zonneveld-Huijssoon, Evelien, de Bie, Charlotte I, Hoischen, Alexander, Eichler, Evan E, Holdhus, Rita, Steen, Vidar M, Døskeland, Stein Ove, Hurles, Matthew E, FitzPatrick, David R, Janssens, Veerle

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Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B von Méhes, Károly, Shannon, Nora, FitzPatrick, David, Reid, Sarah, Douglas, Jenny, Firth, Helen, Plaja, Alberto, Robin, Nathanial, Irrthum, Alexandre, Nash, Richard, Tolmie, John, Kidd, Alexa, Swansbury, John, Coleman, Kim, Hanks, Sandra, Rahman, Nazneen

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Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients von Rendtorff, Nanna Dahl, Karstensen, Helena Gásdal, Lodahl, Marianne, Tolmie, John, McWilliam, Catherine, Bak, Mads, Tommerup, Niels, Nazaryan-Petersen, Lusine, Kunst, Henricus, Wong, Melanie, Joss, Shelagh, Carelli, Valerio, Tranebjærg, Lisbeth

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Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome von Le Goff, Carine, Mahaut, Clémentine, Abhyankar, Avinash, Le Goff, Wilfried, Serre, Valérie, Afenjar, Alexandra, Destrée, Anne, di Rocco, Maja, Héron, Delphine, Jacquemont, Sébastien, Marlin, Sandrine, Simon, Marleen, Tolmie, John, Verloes, Alain, Casanova, Jean-Laurent, Munnich, Arnold, Cormier-Daire, Valérie

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Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, an... von Pasutto, Francesca, Sticht, Heinrich, Hammersen, Gerhard, Gillessen-Kaesbach, Gabriele, FitzPatrick, David R., Nürnberg, Gudrun, Brasch, Frank, Schirmer-Zimmermann, Heidemarie, Tolmie, John L., Chitayat, David, Houge, Gunnar, Fernández-Martínez, Lorena, Keating, Sarah, Mortier, Geert, Hennekam, Raoul C.M., von der Wense, Axel, Slavotinek, Anne, Meinecke, Peter, Bitoun, Pierre, Becker, Christian, Nürnberg, Peter, Reis, André, Rauch, Anita

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Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies von Southgate, Laura, Sukalo, Maja, Karountzos, Anastasios S V, Taylor, Edward J, Collinson, Claire S, Ruddy, Deborah, Snape, Katie M, Dallapiccola, Bruno, Tolmie, John L, Joss, Shelagh, Brancati, Francesco, Digilio, M Cristina, Graul-Neumann, Luitgard M, Salviati, Leonardo, Coerdt, Wiltrud, Jacquemin, Emmanuel, Wuyts, Wim, Zenker, Martin, Machado, Rajiv D, Trembath, Richard C

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Mosaic structural variation in children with developmental disorders von King, Daniel A, Jones, Wendy D, Crow, Yanick J, Dominiczak, Anna F, Foster, Nicola A, Gaunt, Tom R, Harris, Jade, Hellens, Stephen W, Homfray, Tessa, Innes, Josie, Jones, Elizabeth A, Joss, Shelagh, Kulkarni, Abhijit, Mansour, Sahar, Morris, Andrew D, Parker, Michael J, Porteous, David J, Shihab, Hashem A, Smith, Blair H, Tatton-Brown, Katrina, Tolmie, John L, Trzaskowski, Maciej, Vasudevan, Pradeep C, Wakeling, Emma, Wright, Michael, Plomin, Robert, Timpson, Nicholas J, Hurles, Matthew E

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Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection von Bonthron, David T, Goizet, Cyril, Déry, Catherine, Woods, C Geoffrey, Ali, Manir, Weschke, Bernhard, Jackson, Andrew P, Voit, Thomas, King, Mary D, Baumann, Clarisse, Till, Marianne, Quarrell, Oliver W, Crow, Yanick J, Cau, Daniel, Lacombe, Didier, Lyall, Hermione, Lanzi, Giovanni, Stephenson, John B P, Griffith, Elen, Garner, Anna, Parmar, Rekha, Lebon, Pierre, McKeown, Carole, Rogers, R Curtis, Hayward, Bruce E, Babul-Hirji, Riyana, Bertini, Enrico, Martínez-Frías, María Luisa, Monier, Anne, Leitch, Andrea, Rittey, Christopher D, Semple, Colin, Aicardi, Jean, Chitayat, David, Tolmie, John L, Ponting, Chris P, Baxter, Peter, Tacke, Uta, Mathieu, Michèle, Sanchis, Amparo, Tomlin, Pam, Oade, Yvette, Klepper, Joerg, Fazzi, Elisa, Chandler, Kate E

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DNA copy number variations are important in the complex genetic architecture of müllerian disorders von McGowan, Ruth, M.B.Ch.B, Tydeman, Graham, B.Sc, Shapiro, David, Ph.D, Craig, Tracey, M.Sc, Morrison, Norma, Ph.D, Logan, Susan, M.D, Balen, Adam H., M.D, Ahmed, S. Faisal, M.D, Deeny, Miriam, B.Sc, Tolmie, John, B.Sc, Tobias, Edward S., Ph.D

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Mutations in the Embryonal Subunit of the Acetylcholine Receptor ( CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome von Morgan, Neil V., Brueton, Louise A., Cox, Phillip, Greally, Marie T., Tolmie, John, Pasha, Shanaz, Aligianis, Irene A., van Bokhoven, Hans, Marton, Tamas, Al-Gazali, Lihadh, Morton, Jenny E.V., Oley, Christine, Johnson, Colin A., Trembath, Richard C., Brunner, Han G., Maher, Eamonn R.

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Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model von NEMETH, Andrea H, KWASNIEWSKA, Alexandra C, TALBOT, Kevin, DE SILVA, Rajith, FLETCHER, Nicholas, HASTINGS, Rob, JAYAWANT, Sandeep, MORRISON, Patrick J, WORTH, Paul, TAYLOR, Malcolm, TOLMIE, John, O'REGAN, Mary, LISE, Stefano, VALENTINE, Ruth, PACKHAM, Emily, EVANS, Julie, SELLER, Anneke, RAGOUSSIS, Jiannis, SCHNEKENBERG, Ricardo Parolin, BECKER, Esther B. E, BERA, Katarzyna D, SHANKS, Morag E, GREGORY, Lorna, BUCK, David, ZAMEEL CADER, M

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The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P von Woods, Christopher Geoffrey, Babiker, Mohamed Osman Eltahir, Horrocks, Iain, Tolmie, John, Kurth, Ingo

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Results of Duchenne muscular dystrophy family screening in practice: leaks rather than cascades? von McGowan, Ruth, Challoner, Benjamin R., Ross, Sarah, Holloway, Susan, Joss, Shelagh, Wilcox, Douglas, Holden, Simon T., Tolmie, John, Longman, Cheryl

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WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations von Suri, Mohnish, Kelehan, Peter, O'Neill, David, Vadeyar, Shantala, Grant, Judith, Ahmed, S. Faisal, Tolmie, John, McCann, Emma, Lam, Wayne, Smith, Shirley, FitzPatrick, David, Hastie, Nicholas D., Reardon, William

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Mutations in the general transcription factor TFIIH result in β-thalassaemia in individuals with trichothiodystrophy von VIPRAKASIT, Vip, GIBBONS, Richard J, LEHMANN, Alan R, HIGGS, Douglas R, BROUGHTON, Bernard C, TOLMIE, John L, BROWN, Donald, LUNT, Peter, WINTER, Robin M, MARINONI, Stefano, STEFANINI, Miria, BRUETON, Louise

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The movement disorders of Coffin–Lowry syndrome von Stephenson, John B.P., Hoffman, Mary C., Russell, Aline J.C., Falconer, Jane, Beach, Richard C., Tolmie, John L., McWilliam, Robert C., Zuberi, Sameer M.

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Phenotypic Comparison of Two Scottish Families with Mutations in Different Genes Causing Autosomal Dominant Nocturnal Frontal Lobe Epilepsy von McLellan, Ailsa, Phillips, Hilary A., Rittey, Christopher, Kirkpatrick, Martin, Mulley, John C., Goudie, David, Stephenson, John B. P., Tolmie, John, Scheffer, Ingrid E., Berkovic, Samuel F., Zuberi, Sameer M.

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Functional and Structural Studies of Wild Type SOX9 and Mutations Causing Campomelic Dysplasia von McDowall, Sharon, Argentaro, Anthony, Ranganathan, Shoba, Weller, Polly, Mertin, Sabine, Mansour, Sahar, Tolmie, John, Harley, Vincent

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Electro-clinical phenotypes of chromosome disorders associated with epilepsy in the absence of dysmorphism von Macleod, Stewart, Mallik, Arup, Tolmie, John L., Stephenson, John B.P, O'Regan, Mary E., Zuberi, Sameer M.

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