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American journal of human genetics, ISSN 0002-9297, 11/2016, Volume 99, Issue 5, pp. 1086 - 1105
Journal Article
by Oates, Emily C and Jones, Kristi J and Donkervoort, Sandra and Charlton, Amanda and Brammah, Susan and Smith, John E and Ware, James S and Yau, Kyle S and Swanson, Lindsay C and Whiffin, Nicola and Peduto, Anthony J and Bournazos, Adam and Waddell, Leigh B and Farrar, Michelle A and Sampaio, Hugo A and Teoh, Hooi Ling and Lamont, Phillipa J and Mowat, David and Fitzsimons, Robin B and Corbett, Alastair J and Ryan, Monique M and O'Grady, Gina L and Sandaradura, Sarah A and Ghaoui, Roula and Joshi, Himanshu and Marshall, Jamie L and Nolan, Melinda A and Kaur, Simranpreet and Punetha, Jaya and Töpf, Ana and Harris, Elizabeth and Bakshi, Madhura and Genetti, Casie A and Marttila, Minttu and Werlauff, Ulla and Streichenberger, Nathalie and Pestronk, Alan and Mazanti, Ingrid and Pinner, Jason R and Vuillerot, Carole and Grosmann, Carla and Camacho, Ana and Mohassel, Payam and Leach, Meganne E and Foley, A. Reghan and Bharucha‐Goebel, Diana and Collins, James and Connolly, Anne M and Gilbreath, Heather R and Iannaccone, Susan T and Castro, Diana and Cummings, Beryl B and Webster, Richard I and Lazaro, Leïla and Vissing, John and Coppens, Sandra and Deconinck, Nicolas and Luk, Ho‐Ming and Thomas, Neil H and Foulds, Nicola C and Illingworth, Marjorie A and Ellard, Sian and McLean, Catriona A and Phadke, Rahul and Ravenscroft, Gianina and Witting, Nanna and Hackman, Peter and Richard, Isabelle and Cooper, Sandra T and Kamsteeg, Erik‐Jan and Hoffman, Eric P and Bushby, Kate and Straub, Volker and Udd, Bjarne and Ferreiro, Ana and North, Kathryn N and Clarke, Nigel F and Lek, Monkol and Beggs, Alan H and Bönnemann, Carsten G and MacArthur, Daniel G and Granzier, Henk and Davis, Mark R and Laing, Nigel G
Annals of neurology, ISSN 1531-8249, 07/2018, Volume 83, Issue 6, pp. 1105 - 1124
Journal Article
Science translational medicine, ISSN 1946-6242, 04/2017, Volume 9, Issue 386, pp. eaal5209 - eaal5209
Journal Article
Acta neuropathologica, ISSN 1432-0533, 12/2016, Volume 133, Issue 4, pp. 517 - 533
Journal Article
Annals of neurology, ISSN 0364-5134, 06/2016, Volume 79, Issue 6, pp. 959 - 969
Journal Article
Nature (London), ISSN 1476-4687, 08/2011, Volume 477, Issue 7363, pp. 211 - 215
Journal Article