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Francis, David I., Stark, Zornitza, Krzesinski, Emma I., Vasudevan, Anand, Oertel, Ralph, Petrovic, Vida, Boys, Amber, Wei, Vivian, Burgess, Trent, Dun, Karen, Oliver, Karen L., Baxter, Anne, Scheffer, Ingrid E., Hackett, Anna, Ayres, S, Lunke, S, Kalitsis, P, Wall, M, Tan, Tiong Yang, Murali, Krithika, Gallacher, Lyndon, Amor, David J., Goel, Himanshu, Downie, Lilian, Stutterd, Chloe A.. Nature Publishing Group; 2023. Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability.
Dudding-Byth, Tracy, Baxter, Anne, Kleefstra, Tjitske, Ratwatte, Seshika, Riveros, Carlos, Brain, Steve, Lovell, Brian C., Holliday, Elizabeth G., Hackett, Anna, O'Donnell, Sheridan, White, Susan M., Attia, John, Brunner, Han, de Vries, Bert, Koolen, David. BioMed Central; 2017. Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability.
Rafehi, Haloom, Szmulewicz, David J., Barcina, Maria Garcia, Breen, David P., Chancellor, Andrew M., Cremer, Phillip D., Delatycki, Martin B., Fogel, Brent L., Hackett, Anna, Halmagyi, G. Michael, Kapetanovic, Solange, Lang, Anthony, Bennett, Mark F., Mossman, Stuart, Mu, Weiyi, Patrikios, Peter, Perlman, Susan L., Rosemergy, Ian, Storey, Elsdon, Watson, Shaun R. D., Wilson, Michael A., Zee, David S., Valle, David, Sobreira, Nara L. M., Amor, David J., Bahlo, Melanie, Lockhart, Paul J., Pope, Kate, Smith, Katherine R., Gillies, Greta, Diakumis, Peter, Dolzhenko, Egor, Eberle, Michael A.. Cell Press; 2019. Bioinformatics-based identification of expanded repeats:a non-reference intronic pentamer expansion in RFC1 causes CANVAS.
Hocking, Darren R., Birch, Rachael C., Trollor, Julian N., Bui, Quang M., Menant, Jasmine C., Lord, Stephen R., Georgiou-Karistianis, Nellie, Godler, David E., Wen, Wei, Hackett, Anna, Rogers, Carolyn. Elsevier; 2017. Cerebellar volume mediates the relationship between FMR1 mRNA levels and voluntary step initiation in males with the premutation.
Jensen, Lars R., Chen, Wei, van Esch, Hilde, Chelly, Jamel, de Brouwer , Arjan P. M., Hackett, Anna, van der Haar , Sigrun, Henn, Wolfram, Gecz, Jozef, Riess, Olaf, Bonin, Michael, Reinhardt, Richard, Moser, Bettina, Ropers, Hans-Hilger, Kuss, Andreas W., Lipkowitz, Bettina, Schroeder, Christopher, Musante, Luciana, Tzschach, Andreas, Kalscheuer, Vera M., Meloni, Ilaria, Raynaud, Martine. Nature Publishing Group; 2011. Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.
Jansen, Sandra, Hoischen, Alexander, Van Bon, Bregje W., Claahsen-Van Der Grinten, Hedi L., Gecz, Jozef, Gilissen, Christian, Grillo, Lucia, Hackett, Anna, Kleefstra, Tjitske, Koolen, David, Kvarnung, Malin, Larsen, Martin J., Coe, Bradley P., Marcelis, Carlo, McKenzie, Fiona, Monin, Marie-Lorraine, Nava, Caroline, Schuurs-Hoeijmakers, Janneke H., Pfundt, Rolph, Steehouwer, Marlos, Stevens, Servi J.C., Stumpel, Connie T., Vansenne, Fleur, Carvill, Gemma L., Vinci, Mirella, Van De Vorst, Maartje, Vries, Petra D., Witherspoon, Kali, Veltman, Joris A., Brunner, Han G., Mefford, Heather C., Romano, Corrado, Vissers, Lisenka E.L.M., Eichler, Evan E., Van Esch, Hilde, De Vries, Bert B.A., Bosch, Danielle G.M., Andersen, Ulla A., Baker, Carl, Bauters, Marijke, Bernier, Raphael A.. Nature Publishing Group; 2018. A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.
Rujirabanjerd, Sinitdhorn, Nelson, John, Futreal, P. Andrew, Stratton, Michael R., Gecz, Jozef, Tarpey, Patrick S., Hackett, Anna, Edkins, Sarah, Raymond, F. Lucy, Schwartz, Charles E., Turner, Gillian, Iwase, Shigeki, Shi, Yang. Nature Publishing Group; 2010. Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.
Field, Michael J., Kumar, Raman, Gardner, Alison E., Sullivan, Patricia, Ha, Thuong T., Schwartz, Charles E., Cowley, Mark J., Dinger, Marcel E., Palmer, Elizabeth E., Christie, Louise, Shaw, Marie, Roscioli, Tony, Hackett, Anna, Gecz, Jozef, Corbett, MA, Kayumi, Sayaka, Shoubridge, Cheryl A., Ewans, Lisa J., Ivancevic, Atma M., Dudding-Byth, Tracy, Carroll, Renée, Kroes, Thessa. John Wiley & Sons; 2021. Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability.
Hackett, Anna, Tarpey, Patrick S., Tolmie, John, Yates, John R. W., Turner, Gillian, WIlson, Meredith, Futreal, Andrew P., Corbett, Mark, Shaw, Marie, Gecz, Jozef, Raymond, F. Lucy, Stratton, Micahel R., Licata, Andrea, Schwartz, Charles E., Abidi, Fatima E., Cox, James, Whibley, Annabel, Boyle, Jackie, Rogers, Carolyn, Grigg, John, Partington, Michael, Stevenson, Roger E.. Nature Publishing Group; 2010. CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.
Froyen, Guy, Corbett, Mark, Chelly, Jamel, Sanlaville, Damien, van Bokhoven, Hans, Ropers, Hans-Hilger, Laumonnier, Frederic, Ranieri, Enzo, Schwartz, Charles E., Abidi, Fatima, Tarpey, Patrick S., Futreal, P. Andrew, Vandewalle, Joke, Whibley, Annabel, Raymond, F. Lucy, Stratton, Michael R., Fryns, Jean-Pierre, Scott, Rodney, Peippo, Maarit, Sipponen, Marjatta, Partington, Michael, Mowat, David, Field, Michael, Jarvela, Irma, Hackett, Anna, Marynen, Peter, Turner, Gillian, Gécz, Jozef, Lawrence, Owen, Meldrum, Cliff, Bauters, Marijke, Govaerts, Karen, Vandeleur, Lucianne, Van Esch, Hilde. Elsevier; 2008. Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.
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. Nature Publishing Group; 2016. A non-coding variant in the 5ʹ UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability.
Tarpey, Patrick S., Smith, Raffaella, Stephens, Phil, Blow, Matt, Greenman, Chris, Xue, Yali, Tyler-Smith, Chris, Thompson, Deborah, Gray, Kristian, Andrews, Jenny, Barthorpe, Syd, Buck, Gemma, Pleasance, Erin, Hackett, Anna, Whibley, Annabel, Edkins, Sarah, Hardy, Claire, O'Meara, Sarah, Latimer, Calli, Dicks, Ed, Menzies, Andrew. Nature Publishing Group; 2009. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
Corbett, Mark A., Dudding-Byth, Tracy, Friend, Kathryn L., Crawford, Jo, Jackson, Graeme, Vandeleur, Lucianne, Hackett, Anna, Tarpey, Patrick, Stratton, Michael R., Turner, Gillian, Gécz, Jozef, Field, Michael, Crock, Patricia A., Botta, Elena, Christie, Louise M., Nardo, Tiziana, Caligiuri, Giuseppina, Hobson, Lynne, Boyle, Jackie, Mansour, Albert. BMJ Group; 2015. A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.