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Paleomagnetic constraint of the age and duration of the Taupo Eruption, New Zealand Hasegawa, Takeshi; Greve, Annika; Gravley, Darren M.; Kusu, Chie; Kaneda, Yasuaki; Shibata, Shohei; Okada, Makoto; Kosik, Szabolcs; Mochizuki, Nobutatsu; Turner, Gillian Share Save
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Mid- to late Pliocene (3.3-2.6 Ma) global sea-level fluctuations recorded on a continental shelf transect, Whanganui Basin, New Zealand Grant, G. R.; Sefton, J. P.; Patterson, M. O.; Naish, T. R.; Dunbar, G. B.; Hayward, B. W.; Morgans, H. E. G.; Alloway, B. V.; Seward, D.; Tapia, C. A.; Prebble, J. G.; Kamp, P. J. J.; McKay, R.; Ohneiser, C.; Turner, G. M. Share Save
Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy Ewans, Lisa J.; Field, Michael; Zhu, Ying; Turner, Gillian; Leffler, Melanie; Dinger, Marcel E.; Cowley, Mark J.; Buckley, Michael F.; Scheffer, Ingrid E.; Jackson, Matilda R.; Roscioli, Tony; Shoubridge, Cheryl Share Save
A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability Kumar, Raman; Ha, Thuong; Pham, Duyen; Shaw, Marie; Mangelsdorf, Marie; Friend, Kathryn L.; Hobson, Lynne; Turner, Gillian; Boyle, Jackie; Field, Michael; Hackett, Anna; Corbett, Mark; Gecz, Jozef Share Save
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes Hu, H.; Haas, S. A.; Chelly, J.; Van Esch, H.; Raynaud, M.; de Brouwer, A. P. M.; Weinert, S.; Froyen, G.; Frints, S. G. M.; Laumonnier, F.; Zemojtel, T.; Love, M. I.; Richard, H.; Emde, A-K; Bienek, M.; Jensen, C.; Hambrock, M.; Fischer, U.; Langnick, C.; Feldkamp, M.; Wissink-Lindhout, W.; Lebrun, N.; Castelnau, L.; Rucci, J.; Montjean, R.; Dorseuil, O.; Billuart, P.; Stuhlmann, T.; Shaw, M.; Corbett, M. A.; Gardner, A.; Willis-Owen, S.; Tan, C.; Friend, K. L.; Belet, S.; van Roozendaal, K. E. P.; Jimenez-Pocquet, M.; Moizard, M-P; Ronce, N.; Sun, R.; O'Keeffe, S.; Chenna, R.; Van Boemmel, A.; Goeke, J.; Hackett, A.; Field, M.; Christie, L.; Boyle, J.; Haan, E.; Nelson, J.; Turner, G.; Baynam, G.; Gillessen-Kaesbach, G.; Mueller, U.; Steinberger, D.; Budny, B.; Badura-Stronka, M.; Latos-Bielenska, A.; Ousager, L. B.; Wieacker, P.; Criado, G. Rodriguez; Bondeson, M-L; Anneren, G.; Dufke, A.; Cohen, M.; Van Maldergem, L.; Vincent-Delorme, C.; Echenne, B.; Simon-Bouy, B.; Kleefstra, T.; Willemsen, M.; Fryns, J-P; Devriendt, K.; Ullmann, R.; Vingron, M.; Wrogemann, K.; Wienker, T. F.; Tzschach, A.; van Bokhoven, H.; Gecz, J.; Jentsch, T. J.; Chen, W.; Ropers, H-H; Kalscheuer, V. M. Share Save
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A Corbett, Mark A.; Dudding-Byth, Tracy; Crock, Patricia A.; Botta, Elena; Christie, Louise M.; Nardo, Tiziana; Caligiuri, Giuseppina; Hobson, Lynne; Boyle, Jackie; Mansour, Albert; Friend, Kathryn L.; Crawford, Jo; Jackson, Graeme; Vandeleur, Lucianne; Hackett, Anna; Tarpey, Patrick; Stratton, Michael R.; Turner, Gillian; Gecz, Jozef; Field, Michael Share Save
Deriving a long paleoseismic record from a shallow-water Holocene basin next to the Alpine fault, New Zealand Clark, K. J.; Cochran, U. A.; Berryman, K. R.; Biasi, G.; Langridge, R.; Villamor, P.; Bartholomew, T.; Litchfield, N.; Pantosti, D.; Marco, S.; Van Dissen, R.; Turner, G.; Hemphill-Haley, M. Share Save
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation (vol 18, pg 330, 2010) Rujirabanjerd, Sinitdhorn; Nelson, John; Tarpey, Patrick S.; Hackett, Anna; Edkins, Sarah; Raymond, F. Lucy; Schwartz, Charles E.; Turner, Gillian; Iwase, Shigeki; Shi, Yang; Futreal, P. Andrew; Stratton, Michael R.; Gecz, Jozef Share Save
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Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability Whibley, Annabel C.; Plagnol, Vincent; Tarpey, Patrick S.; Abidi, Fatima; Fullston, Tod; Choma, Maja K.; Boucher, Catherine A.; Shepherd, Lorraine; Willatt, Lionel; Parkin, Georgina; Smith, Raffaella; Futreal, P. Andrew; Shaw, Marie; Boyle, Jackie; Licata, Andrea; Skinner, Cindy; Stevenson, Roger E.; Turner, Gillian; Field, Michael; Hackett, Anna; Schwartz, Charles E.; Gecz, Jozef; Stratton, Michael R.; Raymond, F. Lucy Share Save
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Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks Kerzendorfer, Claudia; Whibley, Annabel; Carpenter, Gillian; Outwin, Emily; Chiang, Shih-Chieh; Turner, Gillian; Schwartz, Charles; El-Khamisy, Sherif; Raymond, F. Lucy; O'Driscoll, Mark Share Save
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes Hackett, Anna; Tarpey, Patrick S.; Licata, Andrea; Cox, James; Whibley, Annabel; Boyle, Jackie; Rogers, Carolyn; Grigg, John; Partington, Michael; Stevenson, Roger E.; Tolmie, John; Yates, John R. W.; Turner, Gillian; Wilson, Meredith; Futreal, Andrew P.; Corbett, Mark; Shaw, Marie; Gecz, Jozef; Raymond, F. Lucy; Stratton, Michael R.; Schwartz, Charles E.; Abidi, Fatima E. Share Save
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Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation Rujirabanjerd, Sinitdhorn; Nelson, John; Tarpey, Patrick S.; Hackett, Anna; Edkins, Sarah; Raymond, F. Lucy; Schwartz, Charles E.; Turner, Gillian; Iwase, Shigeki; Shi, Yang; Futreal, P. Andrew; Stratton, Michael R.; Gecz, Jozef Share Save
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