Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract von Gillespie, Rachel L., PhD, Urquhart, Jill, PhD, Anderson, Beverley, MSc, Williams, Simon, PhD, Waller, Sarah, PhD, Ashworth, Jane, FRCOphth, Biswas, Susmito, FRCOphth, Jones, Simon, MRCPCH, Stewart, Fiona, FRCPCH, Lloyd, I. Christopher, FRCOphth, Clayton-Smith, Jill, MD, FRCP, Black, Graeme C.M., DPhil, FRCOphth

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Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus von Anderson, Beverley H, Kasher, Paul R, Mayer, Josephine, Szynkiewicz, Marcin, Jenkinson, Emma M, Bhaskar, Sanjeev S, Urquhart, Jill E, Daly, Sarah B, Dickerson, Jonathan E, O'Sullivan, James, Leibundgut, Elisabeth Oppliger, Muter, Joanne, Abdel-Salem, Ghada M H, Babul-Hirji, Riyana, Baxter, Peter, Berger, Andrea, Bonafé, Luisa, Brunstom-Hernandez, Janice E, Buckard, Johannes A, Chitayat, David, Chong, Wui K, Cordelli, Duccio M, Ferreira, Patrick, Fluss, Joel, Forrest, Ewan H, Franzoni, Emilio, Garone, Caterina, Hammans, Simon R, Houge, Gunnar, Hughes, Imelda, Jacquemont, Sebastien, Jeannet, Pierre-Yves, Jefferson, Rosalind J, Kumar, Ram, Kutschke, Georg, Lundberg, Staffan, Lourenço, Charles M, Mehta, Ramesh, Naidu, Sakkubai, Nischal, Ken K, Nunes, Luís, Õunap, Katrin, Philippart, Michel, Prabhakar, Prab, Risen, Sarah R, Schiffmann, Raphael, Soh, Calvin, Stephenson, John B P, Stewart, Helen, Stone, Jon, Tolmie, John L, van der Knaap, Marjo S, Vieira, Jose P, Vilain, Catheline N, Wakeling, Emma L, Wermenbol, Vanessa, Whitney, Andrea, Lovell, Simon C, Meyer, Stefan, Livingston, John H, Baerlocher, Gabriela M, Black, Graeme C M, Rice, Gillian I, Crow, Yanick J

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Synonymous Mutations in RNASEH2A Create Cryptic Splice Sites Impairing RNase H2 Enzyme Function in Aicardi-Goutières Syndrome von Rice, Gillian I., Reijns, Martin A.M., Coffin, Stephanie R., Forte, Gabriella M.A., Anderson, Beverley H., Szynkiewicz, Marcin, Gornall, Hannah, Gent, David, Leitch, Andrea, Botella, Maria P., Fazzi, Elisa, Gener, Blanca, Lagae, Lieven, Olivieri, Ivana, Orcesi, Simona, Swoboda, Kathryn J., Perrino, Fred W., Jackson, Andrew P., Crow, Yanick J.

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Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations von Smith, Miriam J, Beetz, Christian, Williams, Simon G, Bhaskar, Sanjeev S, O'Sullivan, James, Anderson, Beverley, Daly, Sarah B, Urquhart, Jill E, Bholah, Zaynab, Oudit, Deemesh, Cheesman, Edmund, Kelsey, Anna, McCabe, Martin G, Newman, William G, Evans, D Gareth R

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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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Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome von Clayton-Smith, Jill, O'Sullivan, James, Daly, Sarah, Bhaskar, Sanjeev, Day, Ruth, Anderson, Beverley, Voss, Anne K., Thomas, Tim, Biesecker, Leslie G., Smith, Philip, Fryer, Alan, Chandler, Kate E., Kerr, Bronwyn, Tassabehji, May, Lynch, Sally-Ann, Krajewska-Walasek, Malgorzata, McKee, Shane, Smith, Janine, Sweeney, Elizabeth, Mansour, Sahar, Mohammed, Shehla, Donnai, Dian, Black, Graeme

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Tumour Suppressor Adenomatous Polyposis Coli (APC) localisation is regulated by both Kinesin-1 and Kinesin-2 von Ruane, Peter T., Gumy, Laura F., Bola, Becky, Anderson, Beverley, Wozniak, Marcin J., Hoogenraad, Casper C., Allan, Victoria J.

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Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome von Wieczorek, Dagmar, Newman, William G., Wieland, Thomas, Berulava, Tea, Kaffe, Maria, Falkenstein, Daniela, Beetz, Christian, Graf, Elisabeth, Schwarzmayr, Thomas, Douzgou, Sofia, Clayton-Smith, Jill, Daly, Sarah B., Williams, Simon G., Bhaskar, Sanjeev S., Urquhart, Jill E., Anderson, Beverley, O’Sullivan, James, Boute, Odile, Gundlach, Jasmin, Czeschik, Johanna Christina, van Essen, Anthonie J., Hazan, Filiz, Park, Sarah, Hing, Anne, Kuechler, Alma, Lohmann, Dietmar R., Ludwig, Kerstin U., Mangold, Elisabeth, Steenpaß, Laura, Zeschnigk, Michael, Lemke, Johannes R., Lourenco, Charles Marques, Hehr, Ute, Prott, Eva-Christina, Waldenberger, Melanie, Böhmer, Anne C., Horsthemke, Bernhard, O’Keefe, Raymond T., Meitinger, Thomas, Burn, John, Lüdecke, Hermann-Josef, Strom, Tim M.

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Exome Sequence Identifies RIPK4 as the Bartsocas- Papas Syndrome Locus von Mitchell, Karen, O'Sullivan, James, Missero, Caterina, Blair, Ed, Richardson, Rose, Anderson, Beverley, Antonini, Dario, Murray, Jeffrey C., Shanske, Alan L., Schutte, Brian C., Romano, Rose-Anne, Sinha, Satrajit, Bhaskar, Sanjeev S., Black, Graeme C.M., Dixon, Jill, Dixon, Michael J.

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Tumour Suppressor Adenomatous Polyposis Coli (APC) localisation is regulated by both Kinesin-1 and Kinesin-2 von Ruane, Peter T, Gumy, Laura F, Bola, Becky, Anderson, Beverley, Wozniak, Marcin J, Hoogenraad, Casper C, Allan, Victoria J

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Collaborative Planning Fosters Multiple-Benefit Restoration Projects on the Sacramento River von GOLET, GREGORY H, ANDERSON, BEVERLEY, LUSTER, RYAN A, WERNER, GREGG

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Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis von Daly, Sarah B., Shah, Hitesh, O'Sullivan, James, Anderson, Beverley, Bhaskar, Sanjeev, Williams, Simon, Al-Sheqaih, Nada, Mueed Bidchol, Abdul, Banka, Siddharth, Newman, William G., Girisha, Katta M.

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Further delineation of the KAT6B molecular and phenotypic spectrum von Gannon, Tamsin, Perveen, Rahat, Schlecht, Hélene, Ramsden, Simon, Anderson, Beverley, Kerr, Bronwyn, Day, Ruth, Banka, Siddharth, Suri, Mohnish, Berland, Siren, Gabbett, Michael, Ma, Alan, Lyonnet, Stan, Cormier-Daire, Valerie, Yilmaz, Rüstem, Borck, Guntram, Wieczorek, Dagmar, Anderlid, Britt-Marie, Smithson, Sarah, Vogt, Julie, Moore-Barton, Heather, Simsek-Kiper, Pelin Ozlem, Maystadt, Isabelle, Destrée, Anne, Bucher, Jessica, Angle, Brad, Mohammed, Shehla, Wakeling, Emma, Price, Sue, Singer, Amihood, Sznajer, Yves, Toutain, Annick, Haye, Damien, Newbury-Ecob, Ruth, Fradin, Melanie, McGaughran, Julie, Tuysuz, Beyhan, Tein, Mark, Bouman, Katelijne, Dabir, Tabib, Van den Ende, Jenneke, Luk, Ho Ming, Pilz, Daniela T, Eason, Jacqueline, Davies, Sally, Reardon, Willie, Garavelli, Livia, Zuffardi, Orsetta, Devriendt, Koenraad, Armstrong, Ruth, Johnson, Diana, Doco-Fenzy, Martine, Bijlsma, Emilia, Unger, Sheila, Veenstra-Knol, Hermine E, Kohlhase, Jürgen, Lo, Ivan Fm, DDD study, Smith, Janine, Clayton-Smith, Jill

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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 MA, 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 JV, 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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NON STRETCH, LOOP FASTENING NEO-PRENE von ANDERSON, BEVERLEY

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Non Stretch, loop fastening NEO-prene von Anderson, Beverley Hilda

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Non stretch, loop fastening NEO-prene von Anderson Beverley Hilda

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Management of the menopause in cancer survivors von Clemons, Mark, Clamp, Andrew, Anderson, Beverley

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Non stretch, loop fastening, Neo-prene von ANDERSON, BEVERLEY HILDA

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Permissive Social and Educational Inequality 40 Years After Brown von Anderson, Beverley

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