Tracing the phylogeography of human populations in Britain based on 4th-11th century mtDNA genotypes by Töpf, A L, Gilbert, M T P, Dumbacher, J P, Hoelzel, A R

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Holocene Elephant Seal Distribution Implies Warmer-Than-Present Climate in the Ross Sea by Hall, B. L., Hoelzel, A. R., Baroni, C., Denton, G. H., Le Boeuf, B. J., Overturf, B., Töpf, A. L.

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Ancient human mtDNA genotypes from England reveal lost variation over the last millennium by Töpf, A.L, Gilbert, M.T.P, Fleischer, R.C, Hoelzel, A.R

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A Romani mitochondrial haplotype in England 500 years before their recorded arrival in Britain by Töpf, Ana L, Hoelzel, A Rus

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P297 Validation of a blood-based assay for dysferlinopathy in a Latin American cohort by Barresi, R., Töpf, A., Gonzalez-Chamorro, A., Diaz-Manera, J., Emmons, S., Rufibach, L.

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POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern by Servián-Morilla, E., Cabrera-Serrano, M., Johnson, K., Pandey, A., Ito, A., Rivas, E., Chamova, T., Muelas, N., Mongini, T., Nafissi, S., Claeys, K. G., Grewal, R. P., Takeuchi, M., Hao, H., Bönnemann, C., Lopes Abath Neto, O., Medne, L., Brandsema, J., Töpf, A., Taneva, A., Vilchez, J. J., Tournev, I., Haltiwanger, R. S., Takeuchi, H., Jafar-Nejad, H., Straub, V., Paradas, Carmen

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485P Familial case of Bethlem myopathy caused by an ALU insertion in COL6A2 by Luce, L., Demidov, G., Duff, J., McFarlane, A., Segarra-Casas, A., Laurie, S., de Visser, M., van der Kooi, A., Straub, V., Töpf, A.

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Functionally significant, rare transcription factor variants in tetralogy of Fallot by Töpf, Ana, Griffin, Helen R, Glen, Elise, Soemedi, Rachel, Brown, Danielle L, Hall, Darroch, Rahman, Thahira J, Eloranta, Jyrki J, Jüngst, Christoph, Stuart, A Graham, O'Sullivan, John, Keavney, Bernard D, Goodship, Judith A

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Congenital Titinopathy: Comprehensive characterization and pathogenic insights by Oates, Emily C., Jones, Kristi J., Donkervoort, Sandra, Charlton, Amanda, Brammah, Susan, Smith, John E., Ware, James S., Yau, Kyle S., Swanson, Lindsay C., Whiffin, Nicola, Peduto, Anthony J., Bournazos, Adam, Waddell, Leigh B., Farrar, Michelle A., Sampaio, Hugo A., Teoh, Hooi Ling, Lamont, Phillipa J., Mowat, David, Fitzsimons, Robin B., Corbett, Alastair J., Ryan, Monique M., O'Grady, Gina L., Sandaradura, Sarah A., Ghaoui, Roula, Joshi, Himanshu, Marshall, Jamie L., Nolan, Melinda A., Kaur, Simranpreet, Punetha, Jaya, Töpf, Ana, Harris, Elizabeth, Bakshi, Madhura, Genetti, Casie A., Marttila, Minttu, Werlauff, Ulla, Streichenberger, Nathalie, Pestronk, Alan, Mazanti, Ingrid, Pinner, Jason R., Vuillerot, Carole, Grosmann, Carla, Camacho, Ana, Mohassel, Payam, Leach, Meganne E., Foley, A. Reghan, Bharucha‐Goebel, Diana, Collins, James, Connolly, Anne M., Gilbreath, Heather R., Iannaccone, Susan T., Castro, Diana, Cummings, Beryl B., Webster, Richard I., Lazaro, Leïla, Vissing, John, Coppens, Sandra, Deconinck, Nicolas, Luk, Ho‐Ming, Thomas, Neil H., Foulds, Nicola C., Illingworth, Marjorie A., Ellard, Sian, McLean, Catriona A., Phadke, Rahul, Ravenscroft, Gianina, Witting, Nanna, Hackman, Peter, Richard, Isabelle, Cooper, Sandra T., Kamsteeg, Erik‐Jan, Hoffman, Eric P., Bushby, Kate, Straub, Volker, Udd, Bjarne, Ferreiro, Ana, North, Kathryn N., Clarke, Nigel F., Lek, Monkol, Beggs, Alan H., Bönnemann, Carsten G., MacArthur, Daniel G., Granzier, Henk, Davis, Mark R., Laing, Nigel G.

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Molecular characterization of congenital myasthenic syndromes in Spain by Natera-de Benito, D., Töpf, A., Vilchez, J.J., González-Quereda, L., Domínguez-Carral, J., Díaz-Manera, J., Ortez, C., Bestué, M., Gallano, P., Dusl, M., Abicht, A., Müller, J.S., Senderek, J., García-Ribes, A., Muelas, N., Evangelista, T., Azuma, Y., McMacken, G., Paipa Merchan, A., Rodríguez Cruz, P.M., Camacho, A., Jiménez, E., Miranda-Herrero, M.C., Santana-Artiles, A., García-Campos, O., Dominguez-Rubio, R., Olivé, M., Colomer, J., Beeson, D., Lochmüller, H., Nascimento, A.

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253P International Centre for Genomic Medicine in Neuromuscular Diseases: analysis and characterization of the muscular dystrophy cohort from India by Luce, L., Vengalil, S., Nashi, S., Srivastava, K., Manoj, R., Reyaz, A., Chaudhary, N., Ahmad, T., Naveena, M., Vandrovcova, J., Yareeda, S., Bhatia, R., Y, V. Venugopalan, Srivastava, P., Nalini, A., Töpf, A., Straub, V.

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50P Monoallelic DAG1 truncating variants in patients with hyperCKemia by Segarra-Casas, A., Trainor, C., Polavarapu, K., Díaz-Manera, J., Gonzalez-Quereda, L., Kirschner, J., de Munain, A. López, Nascimento, A., Roos, A., Dowling, J., Muntoni, F., Töpf, A., Straub, V.

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495P Genetic mosaicism, an underestimated event in genetically unsolved neuromuscular patients: study of two families by Estévez-Arias, B., Segarra-Casas, A., Ortez, C., Matalonga, L., Carrera-García, L., Expósito-Escudero, J., Jou, C., Codina, A., Jiménez-Mallebrera, C., Martorell, L., Lochmüller, H., Töpf, A., Beltran, S., Hoenicka, J., Palau, F., Martí, I., Gallano, P., Nascimento, A., Natera-de Benito, D., González-Quereda, L.

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LIMB GIRDLE MUSCULAR DYSTROPHIES: P.156 Differences in demographic and phenotypic spectrum of genetically solved and unsolved cases in a large cohort of patients with limb girdle w... by Mroczek, M., Töpf, A., Specht, S., Johnson, K., Philips, L., England, E., Chao, K., MacArthur, D., Straub, V.

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LIMB GIRDLE MUSCULAR DYSTROPHIES by Mroczek, M., Töpf, A., Specht, S., Johnson, K., Philips, L., England, E., Chao, K., MacArthur, D., Straub, V.

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Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease by Lemire, Gabrielle, Sanchis-Juan, Alba, Russell, Kathryn, Baxter, Samantha, Chao, Katherine R., Singer-Berk, Moriel, Groopman, Emily, Wong, Isaac, England, Eleina, Goodrich, Julia, Pais, Lynn, Austin-Tse, Christina, DiTroia, Stephanie, O’Heir, Emily, Ganesh, Vijay S., Wojcik, Monica H., Evangelista, Emily, Snow, Hana, Osei-Owusu, Ikeoluwa, Fu, Jack, Singh, Mugdha, Mostovoy, Yulia, Huang, Steve, Garimella, Kiran, Kirkham, Samantha L., Neil, Jennifer E., Shao, Diane D., Walsh, Christopher A., Argilli, Emanuela, Le, Carolyn, Sherr, Elliott H., Gleeson, Joseph G., Shril, Shirlee, Schneider, Ronen, Hildebrandt, Friedhelm, Sankaran, Vijay G., Madden, Jill A., Genetti, Casie A., Beggs, Alan H., Agrawal, Pankaj B., Bujakowska, Kinga M., Place, Emily, Pierce, Eric A., Donkervoort, Sandra, Bönnemann, Carsten G., Gallacher, Lyndon, Stark, Zornitza, Tan, Tiong Yang, White, Susan M., Töpf, Ana, Straub, Volker, Fleming, Mark D., Pollak, Martin R., Õunap, Katrin, Pajusalu, Sander, Donald, Kirsten A., Bruwer, Zandre, Ravenscroft, Gianina, Laing, Nigel G., MacArthur, Daniel G., Rehm, Heidi L., Talkowski, Michael E., Brand, Harrison, O’Donnell-Luria, Anne

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Neuromuscular disease genetics in under-represented populations: increasing data diversity by Wilson, Lindsay A, Macken, William L, Perry, Luke D, Record, Christopher J, Schon, Katherine R, Frezatti, Rodrigo S S, Raga, Sharika, Naidu, Kireshnee, Köken, Özlem Yayıcı, Polat, Ipek, Kapapa, Musambo M, Dominik, Natalia, Efthymiou, Stephanie, Morsy, Heba, Nel, Melissa, Fassad, Mahmoud R, Gao, Fei, Patel, Krutik, Schoonen, Maryke, Bisschoff, Michelle, Vorster, Armand, Jonvik, Hallgeir, Human, Ronel, Lubbe, Elsa, Nonyane, Malebo, Vengalil, Seena, Nashi, Saraswati, Srivastava, Kosha, Lemmers, Richard J L F, Reyaz, Alisha, Mishra, Rinkle, Töpf, Ana, Trainor, Christina I, Steyn, Elizabeth C, Mahungu, Amokelani C, van der Vliet, Patrick J, Ceylan, Ahmet Cevdet, Hiz, A Semra, Çavdarlı, Büşranur, Semerci Gündüz, C Nur, Ceylan, Gülay Güleç, Nagappa, Madhu, Tallapaka, Karthik B, Govindaraj, Periyasamy, van der Maarel, Silvère M, Narayanappa, Gayathri, Nandeesh, Bevinahalli N, Wa Somwe, Somwe, Bearden, David R, Kvalsund, Michelle P, Ramdharry, Gita M, Oktay, Yavuz, Yiş, Uluç, Topaloğlu, Haluk, Sarkozy, Anna, Bugiardini, Enrico, Henning, Franclo, Wilmshurst, Jo M, Heckmann, Jeannine M, McFarland, Robert, Taylor, Robert W, Smuts, Izelle, van der Westhuizen, Francois H, Sobreira, Claudia Ferreira da Rosa, Tomaselli, Pedro J, Marques, Jr, Wilson, Bhatia, Rohit, Dalal, Ashwin, Srivastava, M V Padma, Yareeda, Sireesha, Nalini, Atchayaram, Vishnu, Venugopalan Y, Thangaraj, Kumarasamy, Straub, Volker, Horvath, Rita, Chinnery, Patrick F, Pitceathly, Robert D S, Muntoni, Francesco, Houlden, Henry, Vandrovcova, Jana, Reilly, Mary M, Hanna, Michael G

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Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples by Wijngaard, Robin, Demidov, German, O'Gorman, Luke, Corominas-Galbany, Jordi, Yaldiz, Burcu, Steyaert, Wouter, de Boer, Elke, Vissers, Lisenka E L M, Kamsteeg, Erik-Jan, Pfundt, Rolph, Swinkels, Hilde, den Ouden, Amber, Te Paske, Iris B A W, de Voer, Richarda M, Faivre, Laurence, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Vitobello, Antonio, Chevarin, Martin, Straub, Volker, Töpf, Ana, van der Kooi, Anneke J, Magrinelli, Francesca, Rocca, Clarissa, Hanna, Michael G, Vandrovcova, Jana, Ossowski, Stephan, Laurie, Steven, Gilissen, Christian

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Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples by Wijngaard, Robin, Demidov, German, O'Gorman, Luke, Corominas-Galbany, Jordi, Yaldiz, Burcu, Steyaert, Wouter, de Boer, Elke, Vissers, Lisenka E L M, Kamsteeg, Erik-Jan, Pfundt, Rolph, Swinkels, Hilde, den Ouden, Amber, Te Paske, Iris B A W, de Voer, Richarda M, Faivre, Laurence, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Vitobello, Antonio, Chevarin, Martin, Straub, Volker, Töpf, Ana, van der Kooi, Anneke J, Magrinelli, Francesca, Rocca, Clarissa, Hanna, Michael G, Vandrovcova, Jana, Ossowski, Stephan, Laurie, Steven, Gilissen, Christian

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P158 Heterozygous SPTAN1 frameshift mutations cause distal myopathy with neurogenic features by De Winter, J., Van de Vondel, L., Bonne, G., Stojkovic, T., Elouej, S., Grandi, F., Smeriglio, P., Palmio, J., Johari, M., Hackman, P., Savarese, M., Udd, B., Meyer, A., Nicolau, S., Flanigan, K., Waldrop, M., Longman, C., Diaz-Manera, J., Töpf, A., Baets, J.

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